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syndrome"," wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome"," wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome"," wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation"," wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Chromosomal Anomaly","Nephrology","Glaucoma"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Ophthalmology","Nephrology","Endocrine","Obstetrics / Gynecology","Urologist","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":21232,"name":"11p15.4 microduplication syndrome","encodedName":"11p154-microduplication-syndrome","synonyms":["dup(11)p(15.4)"," trisomy 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myelocytic leukaemia without maturation"," m1 acute myelocytic leukemia"," m1 acute myelocytic leukemia without maturation"," m1 acute myelogenous leukaemia"," m1 acute myelogenous leukaemia without maturation"," m1 acute myelogenous leukemia"," m1 acute myelogenous leukemia without maturation"," m1 acute myeloid leukaemia"," m1 acute myeloid leukaemia without maturation"," m1 acute myeloid leukemia"," m1 acute myeloid leukemia without maturation"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":["Myeloid hemopathy"],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":12757,"name":"Acute myeloid leukemia","encodedName":"acute-myeloid-leukemia","synonyms":["acute granulocytic leukaemia"," acute granulocytic leukemia"," acute myeloblastic leukaemia"," acute myeloblastic leukemia"," acute myelocytic leukaemia"," acute myelocytic leukemia"," acute myelogenous leukaemia"," acute myelogenous leukemia"," acute myelogenous leukemias"," acute myeloid 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leukemia"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":["Myeloid hemopathy"],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":13233,"name":"Acute necrotizing encephalitis","encodedName":"acute-necrotizing-encephalitis","synonyms":["acute necrotizing viral encephalitis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":17257,"name":"Acute necrotizing encephalopathy of childhood","encodedName":"acute-necrotizing-encephalopathy-of-childhood","synonyms":["anec"," isolated acute necrotizing encephalopathy"," isolated ane"],"tagsDiseaseCategory":["Infectious Disease","Neurology"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Neurology","Pediatrics"],"tagsCause":[]},{"id":11907,"name":"Acute panmyelosis with myelofibrosis","encodedName":"acute-panmyelosis-with-myelofibrosis","synonyms":["acute (malignant) myelofibrosis"," acute (malignant) myelosclerosis"," acute myelodysplasia with myelofibrosis"," acute myelofibrosis"," acute myelosclerosis"," acute panmyelosis"," apmf"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":["Myeloid hemopathy"],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":2183,"name":"Acute posterior multifocal placoid pigment epitheliopathy","encodedName":"acute-posterior-multifocal-placoid-pigment-epitheliopathy","synonyms":["acute multifocal placoid pigment epitheliopathy"," amppe - acute multifocal placoid pigment epitheliopathy"," epitheliopathy, acute posterior multifocal placoid pigment"," pigment epitheliopathy, disseminated retinitis and retinochoroiditis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Vascular Medicine"],"tagsCause":[]},{"id":538,"name":"Acute promyelocytic leukemia","encodedName":"acute-promyelocytic-leukemia","synonyms":["acute myeloblastic leukaemia 3"," acute myeloblastic leukaemia type 3"," acute myeloblastic leukemia 3"," acute myeloblastic leukemia type 3"," acute myeloid leukaemia 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malformation"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9169,"name":"ADan amyloidosis","encodedName":"adan-amyloidosis","synonyms":["cerebellar ataxia, cataract, deafness, and dementia or psychosis"," cerebral amyloid angiopathy, itm2b-related, 2"," cerebral amyloid angiopathy, itm2b-related, type 2"," familial danish dementia"," familial dementia danish type"," familial dementia, danish type"," fdd"," heredopathia ophthalmootoencephalica"," hooe"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Rheumatology","Psychiatry","Vascular Neurology","Vascular Medicine"],"tagsCause":[]},{"id":10277,"name":"Adducted thumbs-arthrogryposis syndrome, Christian type","encodedName":"adducted-thumbs-arthrogryposis-syndrome-christian-type","synonyms":["adducted thumbs 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kinase"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":547,"name":"Adenosine monophosphate deaminase deficiency","encodedName":"adenosine-monophosphate-deaminase-deficiency","synonyms":["amp deaminase deficiency"," deficiency of adenosine monophosphate deaminase"," deficiency of adenylic acid deaminase"," deficiency of amp aminase"," deficiency of amp deaminase"," myoadenylate deaminase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":548,"name":"Adenosine triphosphatase deficiency, anemia due to","encodedName":"adenosine-triphosphatase-deficiency-anemia-due-to","synonyms":["adenosine triphosphatase deficiency 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carcinoma"],"tagsDiseaseCategory":["Cancer","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Endocrine","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":5751,"name":"Adrenal gland cancer","encodedName":"adrenal-gland-cancer","synonyms":["adrenal cancer"," adrenal gland malignancy"," cancer of adrenal gland"," malignant adrenal gland neoplasm"," malignant adrenal gland tumor"," malignant adrenal gland tumour"," malignant adrenal neoplasm"," malignant adrenal tumor"," malignant adrenal tumour"," malignant neoplasm of adrenal gland"," malignant neoplasm of the adrenal gland"," malignant tumor of adrenal gland"," malignant tumor of the adrenal gland"," malignant tumour of adrenal gland"," malignant tumour of the adrenal gland"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":5755,"name":"Adrenal medulla cancer","encodedName":"adrenal-medulla-cancer","synonyms":["cancer of adrenal medulla"," malignant adrenal medulla 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carcinoma"," hepatocellular carcinoma of adults"],"tagsDiseaseCategory":["Cancer","Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Gastroenterology"],"tagsCause":[]},{"id":10973,"name":"Adult neuronal ceroid lipofuscinosis","encodedName":"adult-neuronal-ceroid-lipofuscinosis","synonyms":["adult ncl"," adult-type amaurotic idiocy"," amaurotic idiocy adult type"," amaurotic idiocy late familial"," ancl"," kufs disease"," kufs type neuronal ceroid lipofuscinosis"," kufs' disease"," late familial amaurotic idiocy"," neuronal ceroid lipofuscinosis of adults"],"tagsDiseaseCategory":["Genetics","Lysosomal"],"tagsAccount":["Lysosomal"],"tagsSpecialist":["Genetics"],"tagsCause":[]},{"id":108,"name":"Adult polyglucosan body disease","encodedName":"adult-polyglucosan-body-disease","synonyms":["apbd"," apbn"," polyglucosan body disease adult form"," polyglucosan body disease, adult form"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"tagsAccount":["Peripheral Neuropathy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Gastroenterology","Neuromuscular medicine"],"tagsCause":[]},{"id":10898,"name":"Adult pure red cell aplasia","encodedName":"adult-pure-red-cell-aplasia","synonyms":["adult pure red-cell aplasia"," primary acquired prca"," primary acquired pure red cell aplasia"," pure red-cell aplasia of adults"],"tagsDiseaseCategory":["Hematology"],"tagsAccount":[],"tagsSpecialist":["Hematology"],"tagsCause":[]},{"id":384,"name":"ADULT syndrome","encodedName":"adult-syndrome","synonyms":["acro-dermato-ungual-lacrimal-tooth syndrome"," acro-dermo-ungual-lacrimal-tooth syndrome (adult syndrome)"," acrodermatounguallacrimaltooth syndrome"," adult (acro-dermato-ungual-lacrimal-tooth) syndrome"," pigment anomaly-ectrodactyly-hypodontia syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Congenital limb 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syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":764,"name":"Arachnodactyly-intellectual disability-dysmorphism syndrome","encodedName":"arachnodactyly-intellectual-disability-dysmorphism-syndrome","synonyms":["arachnodactyly and intellectual disability with facial dysmorphism syndrome"," de die-smulders-vles-fryns syndrome"," de die, smulders, vles, fryns syndrome"," die smulders vles fryns syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17,"name":"Arachnoid cyst","encodedName":"arachnoid-cyst","spanishId":13430,"spanishName":"quistes-aracnoideos","synonyms":["arachnoid cysts"," fluid-filled sac located in membrane surrounding 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argentine"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":5840,"name":"Arginase deficiency","encodedName":"arginase-deficiency","spanishId":13271,"spanishName":"deficiencia-de-arginasa","synonyms":["arg1 deficiency"," arg1-gene related arginase deficiency"," argi deficiency"," arginase 1-gene related arginase deficiency"," argininemia"," deficiency of arginase"," deficiency of canavanase"," hyperargininemia"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":10323,"name":"Arginine:glycine amidinotransferase deficiency","encodedName":"arginineglycine-amidinotransferase-deficiency","synonyms":["agat deficiency"," ccds3"," cerebral creatine deficiency syndrome 3"," cerebral creatine deficiency syndrome type 3"," creatine deficiency syndrome due to agat deficiency"," creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency"," disorder of glycine amidinotransferase activity"," gatm deficiency"," glycine amidinotransferase activity disease"," l-arginine:glycine amidinotransferase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":5843,"name":"Argininosuccinate lyase deficiency","encodedName":"argininosuccinate-lyase-deficiency","synonyms":["argininosuccinase deficiency"," argininosuccinatelyase deficiency"," argininosuccinic acid lyase deficiency"," argininosuccinic acidemia"," argininosuccinic aciduria"," arginosuccinase deficiency"," asa deficiency"," asal deficiency"," asl deficiency"," asl-gene related argininosuccinate lyase deficiency"," deficiency of argininosuccinate lyase"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of 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syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Infertility","Pituitary deficiency"],"tagsSpecialist":["Genetics","Ophthalmology","Endocrine","Obstetrics / Gynecology","Otolaryngology","Urologist","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":5595,"name":"Arrhythmogenic cardiomyopathy with wooly hair and keratoderma","encodedName":"arrhythmogenic-cardiomyopathy-with-wooly-hair-and-keratoderma","synonyms":["arrhythmogenic cardiomyopathy with woolly hair and keratoderma"," carvajal syndrome"," dcwhk"," dilated cardiomyopathy with woolly hair and keratoderma"," dilated cardiomyopathy with wooly hair and keratoderma"," keratoderma with woolly hair type ii"," keratoderma with wooly hair type ii"," kwwh type ii"," palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"," palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair"," woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome"," woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"," wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome"," wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome"," wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Cardiomyopathy","Ectodermal dysplasia"],"tagsSpecialist":["Genetics","Cardiology","Dermatology","Odontology","Pediatrics"],"tagsCause":[]},{"id":5847,"name":"Arrhythmogenic right ventricular cardiomyopathy","encodedName":"arrhythmogenic-right-ventricular-cardiomyopathy","synonyms":["arrhythmogenic cardiomyopathy"," arrhythmogenic right ventricular dysplasia"," arrhythmogenic right ventricular dysplasia/cardiomyopathy"," arrhythmogenic rvd"," arvc"," arvc cardiomyopathy"," arvd"," cardiomyopathy, arvc"," right ventricular dysplasia"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Pediatrics"],"tagsCause":[]},{"id":8380,"name":"Arterial calcification of infancy","encodedName":"arterial-calcification-of-infancy","synonyms":["generalised arterial calcification of infancy"," generalized arterial calcification of infancy"," idiopathic infantile arterial calcification"," idiopathic obliterative arteriopathy"," infantile arteriosclerosis"," occlusive infantile arteriopathy"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":774,"name":"Arterial tortuosity syndrome","encodedName":"arterial-tortuosity-syndrome","spanishId":13231,"spanishName":"sindrome-de-tortuosidad-arterial","synonyms":["ators"," ats"],"tagsDiseaseCategory":["Genetics","Gastroenterology","Dermatology","Congenital 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arthrogryposis"],"tagsDiseaseCategory":["Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Neuromuscular medicine"],"tagsCause":[]},{"id":777,"name":"Arthrogryposis multiplex congenita","encodedName":"arthrogryposis-multiplex-congenita","spanishId":12902,"spanishName":"artrogriposis-multiple-congenita","synonyms":["amc"," amc - arthrogryposis multiplex congenita"," arthrogryposis multiplex"," arthrogryposis, congenital"," arthromyodysplasia congenita"," congenital arthromyodysplasia"," congenital multiple arthrogryposis"," fibrous ankylosis of multiple joints"," guerin-stern syndrome"," guérin-stern syndrome"," multiple congenital arthrogryposis"," multiple congenital contractures"," myodysplasia"," myodystrophia fetalis deformans"," otto syndrome"," rocher-sheldon syndrome"," rossi syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":790,"name":"Arthrogryposis multiplex congenita 2, neurogenic type","encodedName":"arthrogryposis-multiplex-congenita-2-neurogenic-type","synonyms":["amc neurogenic type"," amc, neurogenic type"," amc2"," amcn"," arthrogryposis multiplex congenita neurogenic type"," neurogenic arthrogryposis multiplex congenita"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":792,"name":"Arthrogryposis multiplex congenita-whistling face syndrome","encodedName":"arthrogryposis-multiplex-congenita-whistling-face-syndrome","synonyms":["arthrogryposis multiplex congenita and whistling face syndrome"," arthrogryposis multiplex congenita whistling face"," illium syndrome"," illum syndrome"," lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":794,"name":"Arthrogryposis with renal dysfunction and cholestasis syndrome","encodedName":"arthrogryposis-with-renal-dysfunction-and-cholestasis-syndrome","synonyms":["arc (arthrogryposis, renal dysfunction, cholestasis) syndrome"," arc syndrome"," arthrogryposis-renal dysfunction-cholestasis"," arthrogryposis-renal dysfunction-cholestasis syndrome"," arthrogryposis, renal dysfunction and cholestasis (arc) syndrome"," arthrogryposis, renal dysfunction, and cholestasis"],"tagsDiseaseCategory":["Genetics","Nephrology","Gastroenterology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Nephrology","Dermatology","Ichthyosis","Congenital limb malformation"],"tagsSpecialist":["Genetics","Nephrology","Gastroenterology","Dermatology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4047,"name":"Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome","encodedName":"arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome","synonyms":["arthrogryposis multiple congenita, ophthalmoplegia, ptosis"," arthrogryposis with oculomotor limitation and electroretinal abnormalities"," arthrogryposis with oculomotor limitation and electroretinal anomaly"," arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"," arthrogryposis, distal, type 5"," arthrogryposis, distal, type iib"," distal arthrogryposis type 5"," distal arthrogryposis type iib"," distal arthrogryposis with ophthalmoplegia"," oculomelic amyoplasia"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb 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atrophy with respiratory distress type 1"," spinal muscular atrophy, diaphragmatic"," spinal muscular atrophy, distal, autosomal recessive, type 1"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":10133,"name":"Autosomal recessive distal spinal muscular atrophy 2","encodedName":"autosomal-recessive-distal-spinal-muscular-atrophy-2","synonyms":["autosomal recessive distal spinal muscular atrophy type 2"," dhmnj"," distal hereditary motor neuropathy jerash type"," distal hereditary motor neuropathy, jerash type"," dsma2"," hereditary motor neuropathy,  jerash type"," motor neuropathy, distal, jerash type"," neuronopathy, distal hereditary motor, jerash type"," neuropathy, distal hereditary motor, autosomal recessive 2"," neuropathy, distal hereditary motor, jerash type"," spinal muscular atrophy jerash type"," spinal muscular atrophy, distal, autosomal recessive, type 2"," spinal muscular atrophy, jerash type"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1902,"name":"Autosomal recessive DOPA responsive dystonia","encodedName":"autosomal-recessive-dopa-responsive-dystonia","synonyms":["autosomal recessive dopa-responsive dystonia"," autosomal recessive infantile parkinsonism"," dopa-responsive dystonia, autosomal recessive"," dyt-th"," dyt5b"," segawa syndrome, autosomal recessive"," segawa syndrome, recessive"," th-deficient dopa-responsive dystonia"," tyrosine hydroxylase-deficient dopa-responsive dystonia"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Dystonia"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":18605,"name":"Autosomal recessive early-onset Parkinson 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dysplasia, autosomal recessive"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Ectodermal dysplasia"],"tagsSpecialist":["Genetics","Ophthalmology","Dermatology","Odontology","Pediatrics"],"tagsCause":[]},{"id":16977,"name":"Autosomal recessive hypophosphatemic bone disease","encodedName":"autosomal-recessive-hypophosphatemic-bone-disease","synonyms":["hereditary hypophosphatemic rickets with hypercalciuria"," hhrh"," hhrh - hereditary hypophosphatemic rickets with hypercalciuria"," hypercalciuric hypophosphatemic rickets"," hypercalciuric rickets"," hypophosphatemic hypercalciuric rickets"," hypophosphatemic rickets with hypercalciuria"],"tagsDiseaseCategory":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Endocrine","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17320,"name":"Autosomal recessive hypophosphatemic vitamin D refractory 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hypercalcemia disease"],"tagsDiseaseCategory":["Genetics","Nephrology","Endocrine"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"tagsCause":[]},{"id":24699,"name":"Autosomal recessive inherited pseudoxanthoma elasticum","encodedName":"autosomal-recessive-inherited-pseudoxanthoma-elasticum","synonyms":["ar inherited pseudoxanthoma elasticum"," gronblad-strandberg syndrome"," gronblad-strandberg-touraine syndrome"," pseudoxanthoma elasticum"," pxe"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Dermatology","Congenital Abnormality"],"tagsAccount":["Nephrology","Dermatology","Retinal","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Ophthalmology","Rheumatology","Nephrology","Dermatology","Orthopedics","Retinal","Pediatrics"],"tagsCause":[]},{"id":12452,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease","encodedName":"autosomal-recessive-intermediate-charcot-marie-tooth-disease","synonyms":["intermediate charcot-marie-tooth disease, autosomal recessive"," ri-cmt"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":9642,"name":"Autosomal recessive juvenile Parkinson disease 2","encodedName":"autosomal-recessive-juvenile-parkinson-disease-2","synonyms":["autosomal recessive juvenile parkinson disease type 2"," juvenile parkinsonism"," parkin type of early-onset parkinson disease"," parkin type of juvenile parkinson disease"," parkinson disease autosomal recessive, early onset"," parkinson disease, juvenile, autosomal recessive"," parkinson disease, juvenile, type 2"," parkinsonism, early onset, with diurnal fluctuation"," prkn young-onset parkinson disease"," young-onset parkinson disease caused by mutation in prkn"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":8367,"name":"Autosomal recessive Kenny-Caffey syndrome","encodedName":"autosomal-recessive-kenny-caffey-syndrome","synonyms":["kcs1"," kenny-caffey syndrome type 1"," kenny-caffey syndrome, autosomal recessive"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":2946,"name":"Autosomal recessive keratitis-ichthyosis-deafness syndrome","encodedName":"autosomal-recessive-keratitis-ichthyosis-deafness-syndrome","synonyms":["autosomal recessive kid (keratitis, ichthyosis, deafness) syndrome"," desmons syndrome"," ichthyosiform erythroderma, corneal involvement, and hearing loss"," kid syndrome, autosomal recessive"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":21378,"name":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome","encodedName":"autosomal-recessive-leukoencephalopathy-ischemic-stroke-retinitis-pigmentosa-syndrome","synonyms":["autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Retinal","Pediatrics"],"tagsCause":[]},{"id":1057,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2A","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2a","spanishId":13365,"spanishName":"distrofia-muscular-de-cinturas-autosomica-recesiva-tipo-2a","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2a"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3"," calpain-3 deficiency limb girdle muscular dystrophy type 2a"," calpain-3-related lgmd r1"," calpain-3-related limb-girdle muscular dystrophy r1"," calpainopathy"," capn3 autosomal recessive limb-girdle muscular dystrophy"," leyden-moebius muscular dystrophy"," leyden-möbius muscular dystrophy"," lgmd type 2a"," lgmd2a"," lgmdr1"," limb-girdle muscular dystrophy due to calpain deficiency"," limb-girdle muscular dystrophy type 2a"," limb-girdle muscular dystrophy, type 2a"," muscular dystrophy, limb-girdle, autosomal recessive 1"," muscular dystrophy, limb-girdle, type 2a"," muscular dystrophy, limb-girdle, type 2a, amish"," muscular dystrophy, pelvofemoral"," pelvofemoral muscular dystrophy"," primary calpainopathy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":8574,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2B","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2b","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2b"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in dysf"," dysf autosomal recessive limb-girdle muscular dystrophy"," dysferlin-related lgmd r2"," dysferlin-related limb-girdle muscular dystrophy r2"," lgmd due to dysferlin deficiency"," lgmd type 2b"," lgmd2b"," lgmd3"," lgmdr2"," limb girdle muscular dystrophy due to dysferlin deficiency"," limb-girdle muscular dystrophy due to dysferlin deficiency"," limb-girdle muscular dystrophy type 2b"," limb-girdle muscular dystrophy type 3"," limb-girdle muscular dystrophy, type 2b"," muscular dystrophy, limb-girdle, autosomal recessive 2"," muscular dystrophy, limb-girdle, type 3"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":2429,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2C","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2c","synonyms":["autosomal recessive duchenne-like muscular dystrophy type 1"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcg"," deficiency of sarcoglycan gamma"," dmda1"," gamma-sarcoglycan-related lgmd r5"," gamma-sarcoglycan-related limb-girdle muscular dystrophy r5"," gamma-sarcoglycanopathy"," lgmd due to gamma-sarcoglycan deficiency"," lgmd type 2c"," lgmd2c"," lgmdr5"," limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2c"," maghrebian myopathy"," muscular dystrophy, duchenne-like"," muscular dystrophy, limb-girdle, autosomal recessive 5"," muscular dystrophy, limb-girdle, type 2c"," scarmd"," severe childhood autosomal recessive muscular dystrophy north african type"," sgcg autosomal recessive limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":438,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2D","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2d","synonyms":["adhalinopathy, primary"," alpha-sarcoglycan-related lgmd r3"," alpha-sarcoglycan-related limb-girdle muscular dystrophy r3"," alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d)"," autosomal recessive limb girdle muscular dystrophy type 2d"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca"," dmda2"," duchenne-like autosomal recessive muscular dystrophy type 2"," duchenne-like autosomal recessive muscular dystrophy, type 2"," lgmd due to alpha-sarcoglycan deficiency"," lgmd type 2d"," lgmd2d"," lgmdr3"," limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2d"," muscular dystrophy, limb-girdle, autosomal recessive 3"," muscular dystrophy, limb-girdle, type 2d"," primary adhalinopathy"," sgca autosomal recessive limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3851,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2E","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2e","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2e"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb"," beta-sarcoglycan-related lgmd r4"," beta-sarcoglycan-related limb-girdle muscular dystrophy r4"," lgmd due to beta-sarcoglycan deficiency"," lgmd type 2e"," lgmd2e"," lgmdr4"," limb girdle muscular dystrophy due to beta-sarcoglycan deficiency"," limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2e"," muscular dystrophy, limb-girdle, autosomal recessive 4"," muscular dystrophy, limb-girdle, type 2e"," sgcb autosomal recessive limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":8573,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2F","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2f","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2f"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd"," delta-sarcoglycan-related lgmd r6"," delta-sarcoglycan-related limb-girdle muscular dystrophy r6"," lgmd due to delta-sarcoglycan deficiency"," lgmd type 2f"," lgmd2f"," lgmdr6"," limb girdle muscular dystrophy due to delta-sarcoglycan deficiency"," limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2f"," muscular dystrophy limb-girdle with delta-sarcoglyan deficiency"," muscular dystrophy, limb-girdle, autosomal recessive 6"," sgcd autosomal recessive limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":10471,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2G","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2g","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2g"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap"," lgmd due to telethonin deficiency"," lgmd type 2g"," lgmd2g"," lgmdr7"," limb girdle muscular dystrophy due to telethonin deficiency"," limb-girdle muscular dystrophy due to telethonin deficiency"," limb-girdle muscular dystrophy type 2g"," limb-girdle muscular dystrophy, type 2g"," muscular dystrophy, limb-girdle, autosomal recessive 7"," muscular dystrophy, limb-girdle, type 2g"," tcap autosomal recessive limb-girdle muscular dystrophy"," telethonin-related lgmd r7"," telethonin-related limb-girdle muscular dystrophy r7"," telethoninopathy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12533,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2I","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2i"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp"," fkrp autosomal recessive limb-girdle muscular dystrophy"," fkrp-related lgmd r9"," fkrp-related limb-girdle muscular dystrophy r9"," lgmd due to fkrp deficiency"," lgmd type 2i"," lgmd-fkrp related"," lgmd2i"," limb girdle muscular dystrophy due to deficiency of fukutin related protein"," limb-girdle muscular dystrophy due to fkrp deficiency"," limb-girdle muscular dystrophy type 2i"," mddgc5"," muscular dystrophy limb-girdle type 2i"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 5"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c5"," muscular dystrophy-dystroglycanopathy limb-girdle frkp-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related"," muscular dystrophy, limb-girdle, type 2i"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12534,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2J","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2j","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2j"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn"," lgmd type 2j"," lgmd2j"," lgmdr10"," limb-girdle muscular dystrophy 2j titin gene mutation"," limb-girdle muscular dystrophy type 2j"," limb-girdle muscular dystrophy, type 2j"," muscular dystrophy, limb-girdle, autosomal recessive 10"," muscular dystrophy, limb-girdle, type 2j"," titin-related lgmd r10"," titin-related limb-girdle muscular dystrophy r10"," ttn autosomal recessive limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12535,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2K","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2k","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2k"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt1"," lgmd type 2k"," lgmd-pomt1 related"," lgmd2k"," limb girdle muscular dystrophy with intellectual disability syndrome"," limb-girdle muscular dystrophy type 2k"," limb-girdle muscular dystrophy-intellectual disability syndrome"," mddgc1"," muscular dystrophy limb-girdle type 2k"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 1"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 1"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1"," muscular dystrophy, limb-girdle, type 2k"," pomt1 autosomal recessive limb-girdle muscular dystrophy"," pomt1-related lgmd r11"," pomt1-related limb-girdle muscular dystrophy r11"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12536,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2L","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2l","synonyms":["ano5 autosomal recessive limb-girdle muscular dystrophy"," anoctamin-5-related lgmd r12"," anoctamin-5-related limb-girdle muscular dystrophy r12"," autosomal recessive limb girdle muscular dystrophy type 2l"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in ano5"," lgmd type 2l"," lgmd2l"," lgmdr12"," limb-girdle muscular dystrophy type 2l"," limb-girdle muscular dystrophy, type 2l"," muscular dystrophy, limb-girdle, autosomal recessive 12"," muscular dystrophy, limb-girdle, type 2l"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12538,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2M","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2m","synonyms":["autosomal recessive lgmd type 2m"," autosomal recessive limb girdle muscular dystrophy type 2m"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn"," fktn autosomal recessive limb-girdle muscular dystrophy"," fukutin-related lgmd r13"," fukutin-related limb-girdle muscular dystrophy r13"," lgmd type 2m"," lgmd-fktn related"," lgmd2m"," mddgc4"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4"," muscular dystrophy, limb-girdle, type 2m"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12539,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2N","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2n","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2n"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2"," lgmd type 2n"," lgmd-pomt2 related"," lgmd2n"," limb-girdle muscular dystrophy type 2n"," mddgc2"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2"," muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related"," pomt2 autosomal recessive limb-girdle muscular dystrophy"," pomt2-related lgmd r14"," pomt2-related limb-girdle muscular dystrophy r14"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12540,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2O","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2o","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2o"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1"," lgmd type 2o"," lgmd-pomgnt1 related"," lgmd2o"," limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation"," limb-girdle muscular dystrophy 2o pomgnt1 gene mutation"," limb-girdle muscular dystrophy type 2o"," limb-girdle muscular dystrophy type 3c"," mddgc3"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c3"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3"," muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related"," pomgnt1 autosomal recessive limb-girdle muscular dystrophy"," pomgnt1-related lgmd r15"," pomgnt1-related limb-girdle muscular dystrophy r15"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12541,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2P","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2p","synonyms":["alpha-dystroglycan-related lgmd r16"," alpha-dystroglycan-related limb-girdle muscular dystrophy r16"," autosomal recessive limb girdle muscular dystrophy type 2p"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in dag1"," dag1 autosomal recessive limb-girdle muscular dystrophy"," lgmd type 2p"," lgmd2p"," limb-girdle muscular dystrophy type 2p"," limb-girdle muscular dystrophy type 9c"," mddgc9"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c9"," muscular dystrophy-dystroglycanopathy limb-girdle dag1-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related"," muscular dystrophy, limb-girdle, type 2p"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12542,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2Q","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2q","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2q"," autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency"," lgmd type 2q"," lgmd2q"," lgmdr17"," limb-girdle muscular dystrophy type 2q"," muscular dystrophy, limb-girdle, autosomal recessive 17"," muscular dystrophy, limb-girdle, type 2q"," plectin-related lgmd r17"," plectin-related limb-girdle muscular dystrophy r17"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17869,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2R1","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2r1","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2z"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1"," autosomal recessive limb-girdle muscular dystrophy type 2z"," lgmd type 2z"," lgmd2z"," lgmdr21"," limb girdle muscular dystrophy type 2z"," limb-girdle muscular dystrophy type 2z"," muscular dystrophy, limb-girdle, autosomal recessive 21"," muscular dystrophy, limb-girdle, type 2z"," poglut1 autosomal recessive limb-girdle muscular dystrophy"," poglut1-related lgmd r21"," poglut1-related limb girdle muscular dystrophy r21"," poglut1-related limb-girdle muscular dystrophy r21"," protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":12544,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2T","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2t"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in gmppb"," gmppb autosomal recessive limb-girdle muscular dystrophy"," gmppb-related lgmd r19"," gmppb-related limb-girdle muscular dystrophy r19"," lgmd type 2t"," lgmd-gmppb related"," lgmd2t"," limb-girdle muscular dystrophy type 2t"," limb-girdle muscular dystrophy-dystroglycanopathy, type c14"," mddgc14"," muscular dystrophy limb-girdle type 2t"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c14"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14"," muscular dystrophy-dystroglycanopathy limb-girdle gmppb-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related"," muscular dystrophy, limb-girdle, type 2t"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17519,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2U","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u","synonyms":["autosomal recessive limb girdle muscular dystrophy due to ispd deficiency"," autosomal recessive limb girdle muscular dystrophy type 2u"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd"," autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency"," ispd autosomal recessive limb-girdle muscular dystrophy"," ispd-related lgmd r20"," ispd-related limb-girdle muscular dystrophy r20"," lgmd type 2u"," lgmd2u"," lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u"," limb-girdle muscular dystrophy type 2u"," mddgc7"," muscular dystrophy limb-girdle type 2u"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c7"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7"," muscular dystrophy, limb-girdle, type 2u"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17834,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2W","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2w","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2w"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in lims2"," lgmd2w"," lim zinc finger domain containing 2-related limb girdle muscular dystrophy"," limb girdle muscular dystrophy type 2w"," lims2 autosomal recessive limb-girdle muscular dystrophy"," lims2-related limb girdle muscular dystrophy"," mdrcmtt"," muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue"," muscular dystrophy, limb-girdle, type 2w"],"tagsDiseaseCategory":["Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Neuromuscular medicine"],"tagsCause":[]},{"id":17847,"name":"Autosomal recessive limb-girdle muscular dystrophy type 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Dystrophy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Clinical Cardiac Electrophysiology","Neuromuscular medicine"],"tagsCause":[]},{"id":17708,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2Y","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2y","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2y"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1"," autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency"," autosomal recessive muscular dystrophy due to lap1b deficiency"," autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency"," lgmd type 2y"," lgmd2y"," mrrsdc"," muscular dystrophy with progressive weakness, distal contracture and rigid spine"," muscular dystrophy with progressive weakness, distal contractures and rigid spine"," muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"," muscular dystrophy, limb-girdle, type 2y"," tor1aip1 autosomal recessive limb-girdle muscular dystrophy"," tor1aip1-related lgmd"," tor1aip1-related limb-girdle muscular dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12543,"name":"Autosomal recessive limb-girdle muscular dystrophy type R18","encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-r18","synonyms":["autosomal recessive limb girdle muscular dystrophy type 2s"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in trappc11"," autosomal recessive limb-girdle muscular dystrophy type 2s"," lgmd type 2s"," lgmd2s"," lgmdr18"," limb-girdle muscular dystrophy type 2s"," limb-girdle muscular dystrophy, type 2s"," muscular dystrophy, limb-girdle, autosomal recessive 18"," muscular dystrophy, limb-girdle, type 2s"," trappc11 autosomal recessive limb-girdle muscular dystrophy"," trappc11-related lgmd r18"," trappc11-related limb-girdle muscular dystrophy r18"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":7111,"name":"Autosomal recessive multiple pterygium syndrome","encodedName":"autosomal-recessive-multiple-pterygium-syndrome","synonyms":["autosomal recessive non-lethal multiple pterygium syndrome"," escobar syndrome"," escobar variant multiple pterygium syndrome"," evmps"," multiple pterygium syndrome, autosomal recessive"," multiple pterygium syndrome, escobar variant"," pterygium colli syndrome"," pterygium syndrome"," pterygium universale"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17447,"name":"Autosomal recessive myogenic arthrogryposis multiplex congenita","encodedName":"autosomal-recessive-myogenic-arthrogryposis-multiplex-congenita","synonyms":["autosomal recessive myogenic amc"," syne1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita"," syne1-related amc"," syne1-related arthrogryposis multiplex congenita"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1697,"name":"Autosomal recessive nonsyndromic hearing loss 1A","encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-1a","synonyms":["connexin 26 deafness"," deafness nonsyndromic, connexin 26 linked"," deafness, autosomal recessive 1a"," deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant"," deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant"," dfnb 1 nonsyndromic hearing loss and deafness"," dfnb1a"," gjb2-related autosomal recessive nonsyndromic hearing loss"," gjb6-related dfnb 1 nonsyndromic hearing loss and deafness"," nonsyndromic hearing loss and deafness, dfnb1"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9935,"name":"Autosomal recessive nonsyndromic hearing loss 47","encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-47","synonyms":["autosomal recessive nonsyndromic deafness 47"," deafness, autosomal recessive 47"," deafness, neurosensory, autosomal recessive 47"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9918,"name":"Autosomal recessive nonsyndromic hearing loss 51","encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-51","synonyms":["autosomal recessive nonsyndromic deafness 51"," deafness, autosomal recessive 51"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9919,"name":"Autosomal recessive nonsyndromic hearing loss 55","encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-55","synonyms":["autosomal recessive nonsyndromic deafness 55"," deafness, autosomal recessive 55"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":22588,"name":"Autosomal recessive nonsyndromic hearing loss 9","encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-9","synonyms":["auditory neuropathy, autosomal recessive, 1, temperature-sensitive"," deafness, autosomal recessive 9"," neurosensory nonsyndromic recessive deafness 9"," otof-related hearing loss"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":4076,"name":"Autosomal recessive omodysplasia","encodedName":"autosomal-recessive-omodysplasia","synonyms":["micromelic dysplasia-dislocation of radius 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malignant osteopetrosis"," autosomal recessive osteopetrosis (disease)"," infantile malignant osteopetrosis"," optb"," osteopetrosis (disease), autosomal recessive"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":2579,"name":"Autosomal recessive osteopetrosis 1","encodedName":"autosomal-recessive-osteopetrosis-1","synonyms":["albers-schonberg disease, autosomal recessive"," autosomal recessive albers-schonberg disease"," autosomal recessive malignant osteopetrosis caused by mutation in tcirg1"," autosomal recessive osteopetrosis caused by mutation in tcirg1"," autosomal recessive osteopetrosis type 1"," infantile malignant osteopetrosis 1"," optb1"," osteopetrosis, autosomal recessive type 1"," tcirg1 autosomal recessive malignant osteopetrosis"," tcirg1 autosomal recessive osteopetrosis"," tcirg1-related autosomal recessive osteopetrosis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":4157,"name":"Autosomal recessive osteopetrosis 2","encodedName":"autosomal-recessive-osteopetrosis-2","synonyms":["autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11"," autosomal recessive osteopetrosis caused by mutation in tnfsf11"," autosomal recessive osteopetrosis type 2"," mild autosomal recessive form osteopetrosis"," optb2"," osteoclast-poor osteopetrosis"," osteopetrosis, autosomal recessive type 2"," osteopetrosis, mild autosomal recessive form"," tnfsf11 autosomal recessive malignant osteopetrosis"," tnfsf11 autosomal recessive osteopetrosis"," tnfsf11-related autosomal recessive osteopetrosis"," tnfsf11-related osteopetrosis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":4153,"name":"Autosomal recessive osteopetrosis 5","encodedName":"autosomal-recessive-osteopetrosis-5","synonyms":["autosomal recessive 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dystonia-parkinsonism adult-onset"," dystonia-parkinsonism, adult-onset"," dystonia-parkinsonism, paisan-ruiz type"," hereditary late onset parkinson disease caused by mutation in pla2g6"," park14"," parkinson disease 14"," pla2g6 (phospholipase a2 group vi) related dystonia parkinsonism"," pla2g6 hereditary late onset parkinson disease"," pla2g6-related dystonia-parkinsonism"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Dystonia","Parkinsonism"],"tagsSpecialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"tagsCause":[]},{"id":8378,"name":"Autosomal recessive polycystic kidney disease","encodedName":"autosomal-recessive-polycystic-kidney-disease","synonyms":["ar polycystic kidney disease"," ar-pkd"," arpkd"," arpkd - autosomal recessive polycystic kidney disease"," autosomal recessive infantile polycystic kidney disease"," autosomal recessive polycystic kidney"," infantile polycystic kidney disease"," ipkd - infantile polycystic kidney disease"," polycystic kidney disease, autosomal recessive"," polycystic kidney disease, infantile type"],"tagsDiseaseCategory":["Genetics","Nephrology","Gastroenterology"],"tagsAccount":["Nephrology","Infertility"],"tagsSpecialist":["Genetics","Nephrology","Gastroenterology","Urologist","Pediatrics"],"tagsCause":[]},{"id":17732,"name":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","encodedName":"autosomal-recessive-primary-immunodeficiency-with-defective-spontaneous-natural-killer-cell-cytotoxicity","synonyms":["autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity"," cd16 deficiency"," immunodeficiency 20"," immunodeficiency type 20"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":12117,"name":"Autosomal recessive primary microcephaly","encodedName":"autosomal-recessive-primary-microcephaly","spanishId":12838,"spanishName":"microcefalia-primaria-autosomica-recesiva","synonyms":["mcph"," microcephalia vera"," microcephaly vera"," microcephaly, primary autosomal recessive"," microcephaly, primary, autosomal recessive"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":1191,"name":"Autosomal recessive progressive external ophthalmoplegia","encodedName":"autosomal-recessive-progressive-external-ophthalmoplegia","synonyms":["arpeo"," arpeo- autosomal recessive progressive external ophthalmoplegia"," progressive external ophthalmoplegia, autosomal recessive"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":16568,"name":"Autosomal recessive Robinow syndrome","encodedName":"autosomal-recessive-robinow-syndrome","synonyms":["costovertebral segmentation defect with mesomelia"," costovertebral segmentation defect-mesomelia syndrome"," covesdem syndrome"," robinow syndrome, autosomal recessive"," robinow syndrome, autosomal recessive 1"," ror2-related robinow syndrome"," rrs"," rrs1"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":20658,"name":"Autosomal recessive secondary polycythemia not associated with VHL gene","encodedName":"autosomal-recessive-secondary-polycythemia-not-associated-with-vhl-gene","synonyms":["autosomal recessive secondary erythrocytosis not associated with vhl gene"," autosomal recessive secondary erythrocytosis, non-chuvash type"," autosomal recessive secondary polycythemia, non-chuvash type"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":17698,"name":"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency","encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency","synonyms":["neutropenia, severe congenital, 7, autosomal recessive"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":21747,"name":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-cxcr2-deficiency","synonyms":["autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency"," autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17511,"name":"Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency","encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-g6pc3-deficiency","synonyms":["autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency"," dursun syndrome"," g6pc3 deficiency"," neutropenia, severe congenital 4, autosomal recessive"," pulmonary arterial hypertension, leukopenia, and atrial septal defect"," scn4"," severe congenital neutropenia type 4"," severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"," severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17702,"name":"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency","encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-jagn1-deficiency","synonyms":["severe congenital neutropenia 6, autosomal recessive"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17240,"name":"Autosomal recessive sideroblastic anemia","encodedName":"autosomal-recessive-sideroblastic-anemia","synonyms":["arsa"," congenital sideroblastic anemia"," sideroblastic anemia, autosomal recessive"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":21695,"name":"Autosomal recessive spastic paraplegia type 59","encodedName":"autosomal-recessive-spastic-paraplegia-type-59","synonyms":["spg59"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21696,"name":"Autosomal recessive spastic paraplegia type 60","encodedName":"autosomal-recessive-spastic-paraplegia-type-60","synonyms":["spg60"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21697,"name":"Autosomal recessive spastic paraplegia type 66","encodedName":"autosomal-recessive-spastic-paraplegia-type-66","synonyms":["spg66"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21698,"name":"Autosomal recessive spastic paraplegia type 67","encodedName":"autosomal-recessive-spastic-paraplegia-type-67","synonyms":["spg67"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21699,"name":"Autosomal recessive spastic paraplegia type 69","encodedName":"autosomal-recessive-spastic-paraplegia-type-69","synonyms":["spg69"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21700,"name":"Autosomal recessive spastic paraplegia type 70","encodedName":"autosomal-recessive-spastic-paraplegia-type-70","synonyms":["spastic paraplegia 70, autosomal recessive"," spg70"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":21701,"name":"Autosomal recessive spastic paraplegia type 71","encodedName":"autosomal-recessive-spastic-paraplegia-type-71","synonyms":["spg71"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17892,"name":"Autosomal recessive spastic paraplegia type 76","encodedName":"autosomal-recessive-spastic-paraplegia-type-76","synonyms":["autosomal recessive complex spastic paraplegia caused by mutation in capn1"," autosomal recessive spastic paraplegia 76"," capn1 autosomal recessive complex spastic paraplegia"," hereditary spastic paraplegia type 76"," spastic paraplegia 76, autosomal recessive"," spg76"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":17952,"name":"Autosomal recessive spastic paraplegia type 78","encodedName":"autosomal-recessive-spastic-paraplegia-type-78","synonyms":["atp13a2 hereditary spastic paraplegia"," hereditary spastic paraplegia caused by mutation in atp13a2"," spastic paraplegia 78, autosomal recessive"," spastic paraplegia 78, autosomal recessive"," spg78"," spg78"," spg78 - autosomal recessive spastic paraplegia type 78"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17314,"name":"Autosomal recessive spinocerebellar ataxia 10","encodedName":"autosomal-recessive-spinocerebellar-ataxia-10","synonyms":["adult-onset autosomal recessive cerebellar ataxia"," ano10 autosomal recessive cerebellar ataxia"," autosomal recessive cerebellar ataxia caused by mutation in ano10"," autosomal recessive spinocerebellar ataxia type 10"," scar10"," scar10 - autosomal recessive spinocerebellar ataxia type 10"," spinocerebellar ataxia, autosomal recessive type 10"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Ataxia"],"tagsSpecialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":17312,"name":"Autosomal recessive spinocerebellar ataxia 11","encodedName":"autosomal-recessive-spinocerebellar-ataxia-11","synonyms":["autosomal recessive cerebellar ataxia-psychomotor delay syndrome"," autosomal recessive cerebellar ataxia, psychomotor delay syndrome"," autosomal recessive spinocerebellar ataxia type 11"," autosomal recessive syndromic cerebellar ataxia caused by mutation in syt14"," scar11"," spinocerebellar ataxia, autosomal recessive type 11"," syt14 autosomal recessive syndromic cerebellar ataxia"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Ataxia"],"tagsSpecialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17313,"name":"Autosomal recessive spinocerebellar ataxia 12","encodedName":"autosomal-recessive-spinocerebellar-ataxia-12","synonyms":["autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox"," autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox"," autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency"," autosomal recessive cerebellar ataxia, 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exstrophy of urinary bladder"," exstrophy of urinary bladder sequence"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Urologist","Pediatrics"],"tagsCause":[]},{"id":24298,"name":"Blast phase chronic myelogenous leukemia, BCR-ABL1 positive","encodedName":"blast-phase-chronic-myelogenous-leukemia-bcr-abl1-positive","synonyms":["blast crisis"," blast crisis stage of chronic myeloid leukemia"," blast phase chronic granulocytic leukaemia"," blast phase chronic granulocytic leukemia"," blast phase chronic myelocytic leukaemia"," blast phase chronic myelocytic leukemia"," blast phase chronic myelogenous leukaemia"," blast phase chronic myelogenous leukemia"," blast phase chronic myeloid leukaemia"," blast phase chronic myeloid leukemia"," blast phase cml"," blastic phase chronic granulocytic leukaemia"," blastic phase chronic granulocytic leukemia"," blastic phase chronic myelocytic leukaemia"," blastic phase chronic myelocytic leukemia"," blastic phase chronic myelogenous leukaemia"," blastic phase chronic myelogenous leukemia"," blastic phase chronic myeloid leukaemia"," blastic phase chronic myeloid leukemia"," blastic phase cml"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":304,"name":"Blau syndrome","encodedName":"blau-syndrome","synonyms":["arthrocutaneouveal granulomatosis"," blaus"," early-onset sarcoidosis"," eos"," granulomatosis, familial juvenile systemic"," granulomatosis, familial, blau type"," granulomatous inflammatory arthritis, dermatitis, and uveitis, familial"," jabs syndrome"," paediatric granulomatous arthritis"," sarcoidosis, early-onset"],"tagsDiseaseCategory":["Genetics","Pulmonology","Dermatology"],"tagsAccount":["Dermatology","Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Pulmonology","Ophthalmology","Rheumatology","Immunology","Dermatology","Anterior segment of 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deficiency"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":["Pituitary deficiency"],"tagsSpecialist":["Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":8535,"name":"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","encodedName":"central-hypoventilation-syndrome-congenital-1-with-or-without-hirschsprung-disease","spanishId":13493,"spanishName":"sindrome-de-hipoventilacion-congenita-central","synonyms":["autonomic control, congenital failure of"," cchs"," cchs1"," central congenital hypoventilation syndrome"," central hypoventilation syndrome, congenital, 1"," central hypoventilation syndrome, congenital, 1, with or without hirschsprung"," congenital central alveolar hypoventilation syndrome"," congenital central hypoventilation"," congenital central hypoventilation syndrome"," congenital ondine curse"," ondine curse"," ondine curse, congenital"," ondine 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areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"," cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality","Mitochondrial"],"tagsAccount":["Mitochondrial","Ataxia"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Otolaryngology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":1189,"name":"Cerebellar ataxia-ectodermal dysplasia syndrome","encodedName":"cerebellar-ataxia-ectodermal-dysplasia-syndrome","synonyms":["cerebellar ataxia and ectodermal dysplasia"," cerebellar ataxia co-occurrent with ectodermal dysplasia"," ectodermal dysplasia and cerebellar ataxia"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Ectodermal dysplasia"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":3314,"name":"Cerebellar ataxia-hypogonadism 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Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12432,"name":"Charcot-Marie-Tooth disease axonal type 2L","encodedName":"charcot-marie-tooth-disease-axonal-type-2l","synonyms":["autosomal dominant axonal charcot-marie-tooth disease type 2l"," autosomal dominant charcot-marie-tooth disease type 2l"," charcot-marie-tooth disease type 2 caused by mutation in hspb8"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2l"," charcot-marie-tooth neuropathy axonal type 2l"," charcot-marie-tooth neuropathy type 2l"," charcot-marie-tooth neuropathy, axonal, type 2l"," cmt2l"," hspb8 charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12429,"name":"Charcot-Marie-Tooth disease axonal type 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disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17751,"name":"Charcot-Marie-Tooth disease axonal type 2S","encodedName":"charcot-marie-tooth-disease-axonal-type-2s","synonyms":["autosomal recessive axonal charcot-marie-tooth type 2s"," charcot-marie-tooth disease caused by mutation in ighmbp2"," charcot-marie-tooth disease type 2s"," charcot-marie-tooth disease, axonal, autosomal recessive, type 2s"," charcot-marie-tooth neuropathy type 2s"," charcot-marie-tooth neuropathy, type 2s"," cmt2s"," ighmbp2 charcot-marie-tooth disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":18653,"name":"Charcot-Marie-Tooth disease axonal type 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charcot-marie-tooth disease, axonal, autosomal dominant, type 2u"," charcot-marie-tooth neuropathy type 2u"," charcot-marie-tooth neuropathy, type 2u"," cmt2u"," mars charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":17777,"name":"Charcot-Marie-Tooth disease axonal type 2V","encodedName":"charcot-marie-tooth-disease-axonal-type-2v","synonyms":["autosomal dominant axonal charcot-marie-tooth disease type 2v"," autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation"," autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation"," autosomal dominant charcot-marie-tooth disease type 2v"," charcot-marie-tooth disease caused by mutation in naglu"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2v"," charcot-marie-tooth neuropathy type 2v"," charcot-marie-tooth neuropathy, type 2v"," cmt2v"," hereditary adult onset painful axonal polyneuropathy"," hereditary adult-onset painful axonal polyneuropathy"," naglu charcot-marie-tooth disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17830,"name":"Charcot-Marie-Tooth disease axonal type 2X","encodedName":"charcot-marie-tooth-disease-axonal-type-2x","synonyms":["arcmt2x"," autosomal recessive axonal charcot-marie-tooth disease type 2x"," autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation"," autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation"," autosomal recessive charcot-marie-tooth disease type 2x"," charcot-marie-tooth disease caused by mutation in spg11"," charcot-marie-tooth disease, axonal, autosomal recessive, type 2x"," 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charcot-marie-tooth neuropathy type 2z"," charcot-marie-tooth neuropathy, type 2z"," cmt2z"," morc2 charcot-marie-tooth disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12438,"name":"Charcot-Marie-Tooth disease dominant intermediate B","encodedName":"charcot-marie-tooth-disease-dominant-intermediate-b","synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type b"," charcot-marie-tooth disease caused by mutation in dnm2"," charcot-marie-tooth disease dominant intermediate 1"," charcot-marie-tooth disease dominant intermediate i"," charcot-marie-tooth disease dominant intermediate type b"," charcot-marie-tooth disease, axonal type 2m"," charcot-marie-tooth disease, dominant intermediate type b"," charcot-marie-tooth neuropathy dominant intermediate b"," charcot-marie-tooth neuropathy, dominant intermediate b"," cmt di1"," cmtdi1"," cmtdib"," di-cmtb"," dnm2 charcot-marie-tooth disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12439,"name":"Charcot-Marie-Tooth disease dominant intermediate C","encodedName":"charcot-marie-tooth-disease-dominant-intermediate-c","synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type c"," charcot-marie-tooth disease caused by mutation in yars"," charcot-marie-tooth disease dominant intermediate type c"," charcot-marie-tooth disease, dominant intermediate type c"," charcot-marie-tooth neuropathy dominant intermediate c"," charcot-marie-tooth neuropathy, dominant intermediate c"," cmtdic"," di-cmtc"," yars charcot-marie-tooth disease"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular 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intermediate type f"," cmtdif"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12453,"name":"Charcot-Marie-Tooth disease recessive intermediate A","encodedName":"charcot-marie-tooth-disease-recessive-intermediate-a","synonyms":["autosomal recessive intermediate charcot-marie-tooth disease type a"," charcot-marie-tooth disease caused by mutation in gdap1"," charcot-marie-tooth disease recessive intermediate type a"," charcot-marie-tooth disease, recessive intermediate type a"," charcot-marie-tooth neuropathy recessive intermediate a"," charcot-marie-tooth neuropathy, recessive intermediate a"," cmtria"," gdap1 charcot-marie-tooth disease"," ri-cmt type a"," ri-cmta"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular 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charcot-marie-tooth disease, type ib"," charcot-marie-tooth neuropathy type 1b"," charcot-marie-tooth neuropathy, type 1b"," cmt1b"," hereditary motor and sensory neuropathy 1b"," hereditary motor and sensory neuropathy i"," hereditary motor and sensory neuropathy ib"," hmsn ib"," hmsn1b"," mpz charcot-marie-tooth disease type 1"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1247,"name":"Charcot-Marie-Tooth disease type 1C","encodedName":"charcot-marie-tooth-disease-type-1c","synonyms":["charcot-marie-tooth disease type 1 caused by mutation in litaf"," charcot-marie-tooth disease, demyelinating, type 1c"," charcot-marie-tooth disease, type 1c"," charcot-marie-tooth disease, type ic"," charcot-marie-tooth neuropathy type 1c"," charcot-marie-tooth neuropathy, type 1c"," cmt slow nerve conduction type c"," cmt, slow nerve conduction type c"," cmt1c"," hmsn ic"," hmsn1c"," litaf charcot-marie-tooth disease type 1"," neuropathy hereditary motor and sensory type 1c"," neuropathy, hereditary motor and sensory, type ic"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9189,"name":"Charcot-Marie-Tooth disease type 1D","encodedName":"charcot-marie-tooth-disease-type-1d","synonyms":["charcot-marie-tooth disease type 1 caused by mutation in egr2"," charcot-marie-tooth disease type id"," charcot-marie-tooth disease, demyelinating, type 1d"," charcot-marie-tooth disease, type 1d"," charcot-marie-tooth neuropathy type 1d"," charcot-marie-tooth neuropathy, type 1d"," cmt1d"," egr2 charcot-marie-tooth disease type 1"," hereditary motor and sensory neuropathy 1d"," hmsn id"," hmsn1d"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9190,"name":"Charcot-Marie-Tooth disease type 1E","encodedName":"charcot-marie-tooth-disease-type-1e","synonyms":["autosomal dominant charcot-marie-tooth neuropathy and deafness"," charcot-marie-tooth disease and deafness"," charcot-marie-tooth disease demyelinating type 1e"," charcot-marie-tooth disease-deafness"," charcot-marie-tooth disease-deafness syndrome"," charcot-marie-tooth disease-hearing loss syndrome"," charcot-marie-tooth disease, demyelinating, type 1e"," charcot-marie-tooth disease, type 1e"," charcot-marie-tooth neuropathy and deafness, autosomal dominant"," charcot-marie-tooth neuropathy type 1e"," cmt1e"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neuromuscular 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neuropathy type 2b"," cmt2b"," hereditary motor and sensory neuropathy iib"," hereditary motor and sensory nueropathy iib"," hmsn iib"," hmsn2b"," rab7a charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17153,"name":"Charcot-Marie-Tooth disease type 2B5","encodedName":"charcot-marie-tooth-disease-type-2b5","synonyms":["ar-cmt2b5"," autosomal recessive charcot-marie-tooth disease type 2b5"," seoan due to nefl deficiency"," severe early-onset axonal neuropathy due to light neurofilament subunit deficiency"," severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency"," severe early-onset axonal neuropathy due to nefl deficiency"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1251,"name":"Charcot-Marie-Tooth disease type 2D","encodedName":"charcot-marie-tooth-disease-type-2d","synonyms":["autosomal dominant charcot-marie-tooth disease type 2d"," charcot-marie-tooth disease neuronal type 2d"," charcot-marie-tooth disease type 2 caused by mutation in gars"," charcot-marie-tooth disease, axonal, type 2d"," charcot-marie-tooth disease, neuronal, type 2d"," charcot-marie-tooth disease, type 2d"," charcot-marie-tooth neuropathy type 2d"," cmt2d"," gars charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9193,"name":"Charcot-Marie-Tooth disease type 2E","encodedName":"charcot-marie-tooth-disease-type-2e","synonyms":["autosomal dominant charcot-marie-tooth disease type 2e"," charcot-marie-tooth disease type 2 caused by mutation in nefl"," 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2J","encodedName":"charcot-marie-tooth-disease-type-2j","synonyms":["autosomal dominant charcot-marie-tooth disease type 2j"," charcot-marie-tooth disease type 2 with hearing loss and pupillary abnormalities"," charcot-marie-tooth disease, axonal, type 2j"," charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities"," charcot-marie-tooth disease, type 2j"," charcot-marie-tooth neuropathy type 2j"," charcot-marie-tooth neuropathy, type 2j"," cmt2j"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":12451,"name":"Charcot-Marie-Tooth disease type 2R","encodedName":"charcot-marie-tooth-disease-type-2r","synonyms":["autosomal recessive axonal charcot-marie-tooth disease type 2r"," charcot-marie-tooth disease type 2 caused by mutation in trim2"," charcot-marie-tooth disease, axonal, autosomal recessive, type 2r"," charcot-marie-tooth disease, axonal, type 2r"," charcot-marie-tooth disease, type 2r"," charcot-marie-tooth neuropathy type 2r"," charcot-marie-tooth neuropathy, type 2r"," cmt2r"," trim2 charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17909,"name":"Charcot-Marie-Tooth disease type 2T","encodedName":"charcot-marie-tooth-disease-type-2t","synonyms":["ar-cmt2t"," autosomal recessive axonal charcot-marie-tooth disease type 2t"," cmt2t"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":17714,"name":"Charcot-Marie-Tooth disease type 2Y","encodedName":"charcot-marie-tooth-disease-type-2y","synonyms":["autosomal dominant axonal charcot-marie-tooth type 2y"," autosomal dominant charcot-marie-tooth disease type 2 due to vcp (valosin containing protein) mutation"," autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation"," autosomal dominant charcot-marie-tooth disease type 2y"," charcot-marie-tooth disease type 2 caused by mutation in vcp"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2y"," charcot-marie-tooth disease, axonal, type 2y"," charcot-marie-tooth disease, type 2y"," charcot-marie-tooth neuropathy type 2y"," charcot-marie-tooth neuropathy, type 2y"," cmt2 due to vcp mutation"," cmt2y"," vcp charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12440,"name":"Charcot-Marie-Tooth disease type 4","encodedName":"charcot-marie-tooth-disease-type-4","spanishId":12944,"spanishName":"enfermedad-de-charcot-marie-tooth-tipo-4","synonyms":["ar-cmt1"," autosomal recessive demyelinating charcot-marie-tooth"," charcot-marie-tooth disease, type iv"," charcot-marie-tooth, type 4"," cmt4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1252,"name":"Charcot-Marie-Tooth disease type 4A","encodedName":"charcot-marie-tooth-disease-type-4a","synonyms":["autosomal recessive demyelinating charcot-marie-tooth disease type 4a"," charcot-marie-tooth disease type 4 caused by mutation in gdap1"," charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a"," charcot-marie-tooth neuropathy type 4a"," cmt4a"," gdap1 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1253,"name":"Charcot-Marie-Tooth disease type 4B1","encodedName":"charcot-marie-tooth-disease-type-4b1","synonyms":["autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1"," charcot-marie-tooth disease type 4 caused by mutation in mtmr2"," charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1"," charcot-marie-tooth disease, demyelinating, type 4b1"," charcot-marie-tooth disease, type 4b"," charcot-marie-tooth neuropathy type 4b1"," charcot-marie-tooth neuropathy type 4b1 (cmt4b1)"," cmt4b1"," mtmr2 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9200,"name":"Charcot-Marie-Tooth disease type 4B2","encodedName":"charcot-marie-tooth-disease-type-4b2","synonyms":["autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b2"," charcot-marie-tooth disease type 4 caused by mutation in sbf2"," charcot-marie-tooth disease, demyelinating, type 4b2"," charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2"," charcot-marie-tooth neuropathy type 4b2"," charcot-marie-tooth neuropathy type 4b2 (cmt4b2)"," cmt 4b2"," cmt4b2"," sbf2 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17578,"name":"Charcot-Marie-Tooth disease type 4B3","encodedName":"charcot-marie-tooth-disease-type-4b3","synonyms":["charcot-marie-tooth disease type 4 caused by mutation in sbf1"," charcot-marie-tooth disease with focally folded myelin"," charcot-marie-tooth disease, demyelinating, type 4b3"," charcot-marie-tooth neuropathy type 4b3"," charcot-marie-tooth neuropathy type 4b3 (cmt4b3)"," cmt4b3"," sbf1 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9201,"name":"Charcot-Marie-Tooth disease type 4C","encodedName":"charcot-marie-tooth-disease-type-4c","synonyms":["autosomal recessive demyelinating charcot-marie-tooth disease type 4c"," charcot-marie-tooth disease type 4 caused by mutation in sh3tc2"," charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c"," charcot-marie-tooth disease, demyelinating, type 4c"," charcot-marie-tooth neuropathy type 4c"," charcot-marie-tooth neuropathy type 4c (cmt4c)"," cmt 4c"," cmt4c"," sh3tc2 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3973,"name":"Charcot-Marie-Tooth disease type 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4E","encodedName":"charcot-marie-tooth-disease-type-4e","synonyms":["autosomal recessive congenital hypomyelinating neuropathy"," autosomal recessive congenital hypomyelinating or amyelinating neuropathy"," charcot-marie-tooth disease, demyelinating, type 4e"," charcot-marie-tooth neuropathy type 4e"," chn1"," cmt4e"," congenital hypomyelinating neuropathy 1, autosomal recessive"," congenital hypomyelination"," hypomyelinating neuropathy, congenital, 1"," hypomyelination, severe congenital"," neuropathy, congenital hypomyelinating, 1"," neuropathy, congenital hypomyelination"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12441,"name":"Charcot-Marie-Tooth disease type 4F","encodedName":"charcot-marie-tooth-disease-type-4f","synonyms":["charcot-marie-tooth disease type 4 caused by mutation in prx"," charcot-marie-tooth disease, demyelinating, 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type"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12442,"name":"Charcot-Marie-Tooth disease type 4H","encodedName":"charcot-marie-tooth-disease-type-4h","synonyms":["autosomal recessive charcot-marie-tooth disease type 4h"," autosomal recessive demyelinating charcot-marie-tooth disease type 4h"," charcot-marie-tooth disease type 4 caused by mutation in fgd4"," charcot-marie-tooth disease, autosomal recessive, type 4h"," charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h"," charcot-marie-tooth disease, demyelinating, type 4h"," charcot-marie-tooth neuropathy type 4h"," charcot-marie-tooth neuropathy, type 4h"," cmt4h"," fgd4 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":12443,"name":"Charcot-Marie-Tooth disease type 4J","encodedName":"charcot-marie-tooth-disease-type-4j","synonyms":["autosomal recessive charcot-marie-tooth disease type 4j"," charcot-marie-tooth disease type 4 caused by mutation in fig4"," charcot-marie-tooth disease, autosomal recessive, type 4j"," charcot-marie-tooth disease, demyelinating, type 4j"," charcot-marie-tooth neuropathy type 4j"," cmt4j"," fig4 charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17616,"name":"Charcot-Marie-Tooth disease type 4K","encodedName":"charcot-marie-tooth-disease-type-4k","synonyms":["autosomal recessive demyelinating charcot-marie-tooth disease type 4k"," autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k"," charcot-marie-tooth disease type 4 caused by mutation in surf1"," charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k"," charcot-marie-tooth disease, demyelinating, type 4k"," charcot-marie-tooth disease, type 4k"," charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k"," cmt4k"," surf1 charcot-marie-tooth disease type 4"," surf1-related charcot-marie-tooth disease type 4"," surf1-related cmt4"," surf1-related severe demyelinating charcot-marie-tooth disease"," surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9208,"name":"Charcot-Marie-Tooth disease type 5","encodedName":"charcot-marie-tooth-disease-type-5","synonyms":["charcot-marie-tooth disease with pyramidal features, autosomal dominant"," charcot-marie-tooth disease-pyramidal features syndrome"," charcot-marie-tooth disease, pyramidal features syndrome"," charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant"," cmt with pyramidal features"," hereditary motor and sensory neuropathy 5"," hereditary motor and sensory neuropathy type 5"," hereditary motor and sensory neuropathy type v"," hereditary motor and sensory neuropathy v"," hereditary motor and sensory neuropathy with pyramidal features"," hereditary sensory-motor neuropathy type v"," hmsn 5"," hmsn v"," peroneal muscular atrophy with pyramidal features, autosomal dominant"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":12444,"name":"Charcot-Marie-Tooth disease type X","encodedName":"charcot-marie-tooth-disease-type-x","synonyms":["cmtx"," cowck"," x-linked charcot-marie-tooth disease"," x-linked hereditary motor and sensory neuropathy"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine"],"tagsCause":[]},{"id":1258,"name":"Charcot-Marie-Tooth disease X-linked dominant 1","encodedName":"charcot-marie-tooth-disease-x-linked-dominant-1","synonyms":["charcot marie tooth disease x-linked 1"," charcot-marie-tooth disease type x caused by mutation in gjb1"," charcot-marie-tooth disease x-linked dominant type 1"," charcot-marie-tooth disease, x-linked dominant, 1"," charcot-marie-tooth disease, x-linked dominant, type 1"," charcot-marie-tooth disease, x-linked, 1"," charcot-marie-tooth neuropathy x type 1"," charcot-marie-tooth neuropathy x-linked dominant 1"," charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant"," charcot-marie-tooth neuropathy, x-linked, 1"," charcot-marie-tooth peroneal muscular atrophy, 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6"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1243,"name":"Charcot-Marie-Tooth disease X-linked recessive 2","encodedName":"charcot-marie-tooth-disease-x-linked-recessive-2","synonyms":["charcot marie tooth disease x-linked recessive 2"," charcot-marie-tooth disease x-linked recessive type 2"," charcot-marie-tooth disease, x-linked recessive, 2"," charcot-marie-tooth neuropathy x type 2"," charcot-marie-tooth neuropathy x-linked recessive 2"," charcot-marie-tooth neuropathy, x-linked recessive, 2"," charcot-marie-tooth neuropathy, x-linked recessive, 2, x-linked recessive"," cmtx 2"," cmtx2"," x-linked charcot-marie-tooth disease type 2"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1244,"name":"Charcot-Marie-Tooth disease X-linked recessive 3","encodedName":"charcot-marie-tooth-disease-x-linked-recessive-3","synonyms":["charcot marie tooth disease x-linked recessive 3"," charcot-marie-tooth disease x-linked recessive type 3"," charcot-marie-tooth disease, x-linked recessive, 3"," charcot-marie-tooth neuropathy x type 3"," charcot-marie-tooth neuropathy x-linked recessive 3"," charcot-marie-tooth neuropathy, x-linked recessive, 3"," charcot-marie-tooth neuropathy, x-linked recessive, 3, x-linked recessive"," cmt3x"," cmtx 3"," cmtx3"," x-linked charcot-marie-tooth disease type 3"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1240,"name":"Charcot-Marie-Tooth disease X-linked recessive 4","encodedName":"charcot-marie-tooth-disease-x-linked-recessive-4","synonyms":["axonal motor sensory neuropathy with deafness and intellectual disability"," charcot-marie-tooth disease with deafness and intellectual disability"," charcot-marie-tooth disease x-linked recessive type 4"," charcot-marie-tooth disease, x-linked recessive, 4"," charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia"," charcot-marie-tooth neuropathy x type 4"," cmt4x"," cmtx 4"," cmtx4"," cowchock syndrome"," cowchock syndrome, x-linked recessive"," cowck"," nadmr"," namsd"," x-linked charcot-marie-tooth disease type 4"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":114,"name":"Charcot-Marie-Tooth disease X-linked recessive 5","encodedName":"charcot-marie-tooth-disease-x-linked-recessive-5","synonyms":["charcot-marie-tooth disease x-linked recessive type 5"," charcot-marie-tooth disease, x-linked recessive, 5"," charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive"," charcot-marie-tooth disease, x-linked recessive, type 5"," charcot-marie-tooth neuropathy x type 5"," charcot-marie-tooth neuropathy x-linked recessive 5"," charcot-marie-tooth neuropathy, x-linked recessive, 5"," cmt5x"," cmtx5"," familial opticoacoustic nerve degeneration and polyneuropathy"," optic atrophy, neural deafness, and distal neurogenic amyotrophy"," optic atrophy, polyneuropathy, and deafness"," optic atrophy, sensorineural hearing loss and polyneuropathy"," prps1-related charcot-marie-tooth neuropathy x type 5"," rosenberg chutorian syndrome"," rosenberg-chutorian syndrome"," x-linked charcot-marie-tooth disease type 5"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":16786,"name":"Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","encodedName":"charcot-marie-tooth-disease-hearing-loss-intellectual-disability-syndrome","synonyms":["charcot-marie-tooth disease-deafness-intellectual disability syndrome"," cmt-deafness-intellectual disability syndrome"," deafness with charcot-marie-tooth disease"," hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers"," hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres"," hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17959,"name":"Charcot-Marie-tooth disease, axonal, type 2DD","encodedName":"charcot-marie-tooth-disease-axonal-type-2dd","synonyms":["atp1a1 (atpase na+/k+ transporting subunit alpha 1) related autosomal dominant charcot-marie-tooth disease type 2"," atp1a1-related autosomal dominant charcot-marie-tooth disease type 2"," atp1a1-related cmt2"," autosomal dominant charcot-marie-tooth disease type 2dd"," charcot-marie-tooth neuropathy, type 2dd"," cmt2dd"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular 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hmsn1a"," microduplication 17p12"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly","Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":29,"name":"CHARGE syndrome","encodedName":"charge-syndrome","synonyms":["charge"," charge (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome"," charge association"," charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies"," coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome"," coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome"," coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies"," coloboma, heart defects, choanal atresia, retardation of growth and 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thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":23523,"name":"Childhood ependymoma","encodedName":"childhood-ependymoma","synonyms":["ependymoma of childhood"," paediatric ependymoma"," pediatric ependymoma"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":23883,"name":"Childhood germ cell brain tumor","encodedName":"childhood-germ-cell-brain-tumor","synonyms":["brain germ cell tumor"," brain germ cell tumour"," childhood brain germ cell neoplasm"," childhood brain germ cell tumor"," childhood brain germ cell tumour"," childhood germ cell brain neoplasm"," germ cell neoplasm of childhood brain"," germ cell neoplasm of paediatric brain"," germ cell neoplasm of pediatric brain"," germ cell neoplasm of the childhood brain"," germ cell neoplasm of the paediatric brain"," 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(disease)"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":91,"name":"Childhood malignant melanoma","encodedName":"childhood-malignant-melanoma","synonyms":["childhood melanoma"," childhood melanoma (disease)"," melanoma (disease) of childhood"," paediatric melanoma (disease)"," pediatric melanoma (disease)"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9350,"name":"Childhood medulloblastoma","encodedName":"childhood-medulloblastoma","synonyms":["medulloblastoma of childhood"," paediatric medulloblastoma"," pediatric medulloblastoma"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":10541,"name":"Childhood onset GLUT1 deficiency syndrome 2","encodedName":"childhood-onset-glut1-deficiency-syndrome-2","synonyms":["childhood onset glut1 deficiency syndrome type 2"," dystonia 18"," dyt18"," glut1 deficiency syndrome 2"," glut1 deficiency syndrome 2, 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congenital disorder of glycosylation"," cog5-cdg"," component of oligomeric golgi complex 5 congenital disorder of glycosylation"," congenital disorder of glycosylation type 2i"," congenital disorder of glycosylation type iii"," congenital disorder of glycosylation, type iii"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10944,"name":"COG6-congenital disorder of glycosylation","encodedName":"cog6-congenital-disorder-of-glycosylation","synonyms":["cdg iil"," cdg syndrome type iil"," cdg-iil"," cdg2l"," cog6-cdg"," cog6-cgd"," cog6-cgd - component of oligomeric golgi complex 6-congenital disorder of glycosylation"," component of oligomeric golgi complex 6-congenital disorder of glycosylation"," congenital disorder of glycosylation type 2l"," congenital disorder of glycosylation type iil"," congenital disorder of glycosylation, type iil"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":9842,"name":"COG7 congenital disorder of glycosylation","encodedName":"cog7-congenital-disorder-of-glycosylation","synonyms":["carbohydrate deficient glycoprotein syndrome type iie"," cdg iie"," cdg syndrome type iie"," cdg-iie"," cdg2e"," cog7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation"," cog7-cdg"," cog7-cdg (cdg-iie)"," cog7-congenital disorder of glycosylation"," component of oligomeric golgi complex 7 congenital disorder of glycosylation"," congenital disorder of glycosylation type 2e"," congenital disorder of glycosylation type iie"," congenital disorder of glycosylation, type iie"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology","Epilepsy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Dermatology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":12411,"name":"COG8-congenital disorder of glycosylation","encodedName":"cog8-congenital-disorder-of-glycosylation","synonyms":["carbohydrate deficient glycoprotein syndrome type iih"," cdg iih"," cdg syndrome type iih"," cdg-iih"," cdg2h"," cog8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation"," cog8 congenital disorder of glycosylation"," cog8-cdg"," cog8-cdg (cdg-iih)"," component of oligomeric golgi complex 8 congenital disorder of glycosylation"," congenital disorder of glycosylation type 2h"," congenital disorder of glycosylation type iih"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":1421,"name":"Cogan syndrome","encodedName":"cogan-syndrome","synonyms":["cogan's syndrome"," diffuse interstitual keratitis"," oculovestibuloauditory syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Ophthalmology","Rheumatology","Otolaryngology","Anterior segment of Eye","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":6125,"name":"Cogan-Reese syndrome","encodedName":"cogan-reese-syndrome","synonyms":["iris nevus syndrome"," nodular unilateral glaucoma"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology"],"tagsCause":[]},{"id":12845,"name":"Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome","encodedName":"cognitive-impairment-coarse-facies-heart-defects-obesity-pulmonary-involvement-short-stature-skeletal-dysplasia-syndrome","synonyms":["chops syndrome"," cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"," cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia"," cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Neurology","Endocrine","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":6126,"name":"Cohen syndrome","encodedName":"cohen-syndrome","spanishId":13730,"spanishName":"sindrome-de-cohen","synonyms":["coh1"," cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness"," pepper syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":["Retinal","Primary Immune 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syndrome"," sohar-crisponi syndrome"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1611,"name":"Cold-induced sweating syndrome 1","encodedName":"cold-induced-sweating-syndrome-1","synonyms":["ciss1"," cold-induced sweating syndrome type 1"," crisponi/cold-induced sweating syndrome 1"," crlf1-related cold-induced sweating syndrome including crisponi syndrome"," muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1425,"name":"Cole-Carpenter syndrome","encodedName":"cole-carpenter-syndrome","synonyms":["bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"," bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome"," cole carpenter syndrome"," cole-carpenter dysplasia"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":12705,"name":"Collagen 6-related myopathy","encodedName":"collagen-6-related-myopathy","synonyms":["collagen vi-related dystrophy"," collagen vi-related muscle disorder"," collagen vi-related muscular dystrophy"," collagen vi-related myopathy"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9573,"name":"Collecting duct carcinoma","encodedName":"collecting-duct-carcinoma","synonyms":["bdc"," bellini carcinoma"," bellini duct carcinoma"," carcinoma of collecting duct of renal tubule"," carcinoma of collecting ducts of bellini"," carcinoma of kidney collecting duct"," carcinoma of renal collecting duct"," carcinoma of the collecting ducts of bellini"," carcinoma of the kidney collecting duct"," carcinoma of the renal collecting duct"," cdc"," collecting duct carcinoma of kidney"," collecting duct of renal tubule carcinoma"," collecting duct renal cancer"," collecting duct renal cell carcinoma"," kidney collecting duct carcinoma"," renal carcinoma, collecting duct type"," renal collecting duct carcinoma"],"tagsDiseaseCategory":["Cancer","Nephrology"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Cancer - Oncologist","Nephrology"],"tagsCause":[]},{"id":16875,"name":"Coloboma of choroid and retina","encodedName":"coloboma-of-choroid-and-retina","synonyms":[""],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal"],"tagsCause":[]},{"id":1436,"name":"Coloboma of macula","encodedName":"coloboma-of-macula","synonyms":["agenesis of macula"," coloboma of the macula"," congenital coloboma of macula lutea"," hereditary macular coloboma (subtype)"," macular coloboma"," macular pseudocoloboma"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal"],"tagsCause":[]},{"id":1437,"name":"Coloboma of macula-brachydactyly type B syndrome","encodedName":"coloboma-of-macula-brachydactyly-type-b-syndrome","synonyms":["apical dystrophy"," coloboma of macula with brachydactyly type b syndrome"," sorsby syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"tagsCause":[]},{"id":1438,"name":"Coloboma of optic nerve","encodedName":"coloboma-of-optic-nerve","synonyms":["coloboma of optic disc"," coloboma of optic nerve (disease)"," coloboma of optic papilla"," congenital coloboma of optic disc"," congenital coloboma of the optic nerve"," congenital optic disc coloboma"," optic disc coloboma"," optic nerve coloboma"," optic nerve head pits, bilateral congenital"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Neuro-Ophthalmology"],"tagsCause":[]},{"id":17844,"name":"Colobomatous macrophthalmia-microcornea syndrome","encodedName":"colobomatous-macrophthalmia-microcornea-syndrome","synonyms":["colobomatous macrophthalmia with microcornea syndrome"," macom (macrophthalmia colobomatous with microcornea) syndrome"," macom syndrome"," macrophthalmia, colobomatous, with microcornea"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":17575,"name":"Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome","encodedName":"colobomatous-microphthalmia-obesity-hypogenitalism-intellectual-disability-syndrome","synonyms":["colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Endocrine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17707,"name":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome","encodedName":"colobomatous-microphthalmia-rhizomelic-dysplasia-syndrome","synonyms":["mcsks"," microphthalmia-coloboma-rhizomelic skeletal dysplasia"," microphthalmia, syndromic type 14"," microphthalmia/coloboma and skeletal dysplasia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17719,"name":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","encodedName":"colobomatous-optic-disc-macular-atrophy-chorioretinopathy-syndrome","synonyms":["colobomatous optic disc, macular atrophy, chorioretinopathy syndrome"," odrmd"," optic disc anomalies with retinal and/or macular dystrophy"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":7248,"name":"Colonic pseudo-obstruction","encodedName":"colonic-pseudo-obstruction","synonyms":["primary chronic pseudo-obstruction of colon"," pseudo-obstruction of colon"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":19042,"name":"Colorado tick fever","encodedName":"colorado-tick-fever","synonyms":["american mountain fever"," american mountain tick fever"," colorado tick encephalitis"," colorado tick fever virus caused disease or disorder"," colorado tick fever virus disease or disorder"," colorado tick fever virus infectious disease"," colorado tick-borne disease"," ctf - colorado tick fever"," mountain fever"," mountain tick fever"," tick fever, american mountain"],"tagsDiseaseCategory":["Infectious Disease","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Infectious Disease","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":16639,"name":"Combined deficiency of factor V and factor VIII","encodedName":"combined-deficiency-of-factor-v-and-factor-viii","synonyms":["combined deficiency of factor v and factor type viii"," f5f8d"," factor v and factor viii combined deficiency"," familial multiple coagulation factor deficiency"," fv and fviii combined deficiency"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":3953,"name":"Combined deficiency of sialidase AND beta galactosidase","encodedName":"combined-deficiency-of-sialidase-and-beta-galactosidase","synonyms":["cathepsin a deficiency"," combined deficiency of neuroaminidase and beta galactosidase"," galactosialidosis"," goldberg syndrome"," gsl"," gsl - galactosialidosis"," neuraminidase deficiency with beta-galactosidase deficiency"," neuraminidase/beta-galactosidase expression"," ppca deficiency"," protective protein deficiency"," protective protein/cathepsin a deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"tagsAccount":["Lysosomal","Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Retinal","Pediatrics"],"tagsCause":[]},{"id":17046,"name":"Combined immunodeficiency due to CD3gamma deficiency","encodedName":"combined-immunodeficiency-due-to-cd3gamma-deficiency","synonyms":["cd3 deficiency"," cd3-gamma deficiency"," cd3gamma deficiency"," imd17"," immunodeficiency 17"," immunodeficiency 17, cd3 gamma deficient"," immunodeficiency type 17"," scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17048,"name":"Combined immunodeficiency due to CRAC channel dysfunction","encodedName":"combined-immunodeficiency-due-to-crac-channel-dysfunction","synonyms":["combined immunodeficiency due to calcium release activated calcium channel dysfunction"," combined immunodeficiency due to crac (calcium release activated calcium) channel dysfunction"," immune dysfunction due to t-cell inactivation due to calcium entry defect"," immune dysfunction with t-cell inactivation due to calcium entry defect"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17696,"name":"Combined immunodeficiency due to CTPS1 deficiency","encodedName":"combined-immunodeficiency-due-to-ctps1-deficiency","synonyms":["ctps1-related combined immunodeficiency"," immunodeficiency 24"," immunodeficiency type 24"," scid due to ctps1 deficiency"," severe combined immunodeficiency due to ctps1 deficiency"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":2816,"name":"Combined immunodeficiency due to DOCK8 deficiency","encodedName":"combined-immunodeficiency-due-to-dock8-deficiency","synonyms":["cid due to dock8 deficiency"," combined immunodeficiency due to dedicator of cytokinesis 8 deficiency"," combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency"," dedicator of cytokinesis 8 deficiency"," dock8 deficiency"," dock8 immunodeficiency syndrome"," hies autosomal recessive"," hies2"," hyper-ige recurrent infection syndrome 2, autosomal recessive"," hyper-ige recurrent infection syndrome, autosomal recessive"," hyper-ige syndrome 2, autosomal recessive, with recurrent infections"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune 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deficiency","encodedName":"combined-immunodeficiency-due-to-lrba-deficiency","spanishId":13570,"spanishName":"deficiencia-de-lrba","synonyms":["cid due to lrba deficiency"," combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency"," common variable immunodeficiency 8, with autoimmunity"],"tagsDiseaseCategory":["Genetics","Endocrine","Gastroenterology"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Endocrine","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":17647,"name":"Combined immunodeficiency due to MALT1 deficiency","encodedName":"combined-immunodeficiency-due-to-malt1-deficiency","synonyms":["immunodeficiency 12"," immunodeficiency type 12"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":17939,"name":"Combined immunodeficiency due to moesin 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deficiency","encodedName":"combined-immunodeficiency-due-to-ox40-deficiency","synonyms":["combined immunodeficiency with childhood-onset kaposi sarcoma"," combined immunodeficiency with impaired immunity to hhv-8"," combined immunodeficiency with impaired immunity to human herpes virus 8"," immunodeficiency 16"," immunodeficiency type 16"," ox40 deficiency"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":13712,"name":"Combined immunodeficiency due to partial RAG1 deficiency","encodedName":"combined-immunodeficiency-due-to-partial-rag1-deficiency","synonyms":["cid due to partial rag1 deficiency"," cid with expansion of gamma delta t cells"," combined immunodeficiency with expansion of gamma delta t cells"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune 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disease","encodedName":"danon-disease","spanishId":12318,"spanishName":"enfermedad-de-danon","synonyms":["antopol disease"," danon disease, x-linked dominant"," glycogen storage disease due to lamp-2 deficiency"," glycogen storage disease due to lysosomal associated membrane protein 2 deficiency"," glycogen storage disease type iib"," glycogenosis due to lamp-2 deficiency"," gsd due to lamp-2 deficiency"," gsd iib"," lamp2 lysosomal glycogen storage disease"," lysosomal glycogen storage disease caused by mutation in lamp2"," lysosomal glycogen storage disease with normal acid maltase activity"," lysosomal glycogen storage disease without acid maltase deficiency"," pseudoglycogenosis ii"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"tagsAccount":["Lysosomal","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":27375,"name":"DCTN1-related neurodegeneration","encodedName":"dctn1-related-neurodegeneration","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":17899,"name":"DDX41-related hematologic malignancy predisposition syndrome","encodedName":"ddx41-related-hematologic-malignancy-predisposition-syndrome","synonyms":["ddx41 hereditary neoplastic syndrome"," hereditary neoplastic syndrome caused by mutation in ddx41"," mplpf"," myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics"],"tagsCause":[]},{"id":49,"name":"De Barsy syndrome","encodedName":"de-barsy-syndrome","synonyms":["autosomal recessive cutis laxa type iii"," cutis laxa-corneal clouding-intellectual disability syndrome"," cutis laxa-corneal clouding-oligophrenia syndrome"," de barsey syndrome"," de barsey-moens-dierckx syndrome"," progeroid syndrome of de barsey"," progeroid syndrome, de barsy type"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology","Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Ophthalmology","Rheumatology","Gastroenterology","Dermatology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10109,"name":"De Lange syndrome","encodedName":"de-lange-syndrome","spanishId":13537,"spanishName":"sindrome-de-cornelia-de-lange","synonyms":["amsterdam dwarf"," brachmann de lange syndrome"," brachmann-de lange syndrome"," bruck-de lange syndrome"," cdl"," cdls"," cornelia de lange syndrome"," degenerative amstelodamensis typus"," degenerative amsterodamensis typus"," typus degenerativus amstelodamensis"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Ophthalmology","Gastroenterology","Orthopedics","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":8276,"name":"DE SANCTIS-CACCHIONE SYNDROME","encodedName":"de-sanctis-cacchione-syndrome","synonyms":["de sanctis cacchione syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":5535,"name":"Deaf blind hypopigmentation syndrome, Yemenite type","encodedName":"deaf-blind-hypopigmentation-syndrome-yemenite-type","synonyms":["deaf blind hypopigmentation syndrome yemenite type"," warburg thomsen syndrome"," warburg-thomsen syndrome"," yemenite deaf-blind hypopigmentation syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Ophthalmology","Dermatology","Otolaryngology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":8331,"name":"Deafness dystonia syndrome","encodedName":"deafness-dystonia-syndrome","synonyms":["ddon syndrome"," deafness dystonia optic atrophy syndrome"," deafness dystonia optic neuronopathy syndrome"," deafness dystonia optic neuronopathy syndrome (ddon)"," deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency"," deafness-dystonia syndrome"," deafness-dystonia-optic atrophy syndrome"," deafness-dystonia-optic neuronopathy syndrome"," dystonia deafness syndrome"," dystonia-deafness syndrome, x-linked"," hearing loss-dystonia-optic neuronopathy syndrome"," mohr-tranebjaerg syndrome"," mohr-tranebjaerg syndrome, x-linked recessive"," mts"," nerve deafness optic nerve atrophy, and dementia"," opticoacoustic nerve atrophy with dementia"," opticoacustic nerve atrophy with dementia"," syndrome of opticoacoustic nerve atrophy with dementia"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10707,"name":"Deafness with labyrinthine aplasia, microtia, and microdontia","encodedName":"deafness-with-labyrinthine-aplasia-microtia-and-microdontia","synonyms":["congenital deafness with inner ear agenesis, microtia, and microdontia"," congenital deafness with labyrinthine aplasia, microtia and microdontia"," deafness with lamm"," deafness, congenital with inner ear agenesis, microtia, and microdontia"," deafness, congenital, with labyrinthine aplasia, microtia, and microdontia"," hearing loss with labyrinthine aplasia, microtia, and microdontia"," lamm syndrome"," microdontia-type i microtia-deafness syndrome"," microdontia-type i microtia-hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":1686,"name":"Deafness-craniofacial syndrome","encodedName":"deafness-craniofacial-syndrome","synonyms":["deafness craniofacial syndrome"," hearing loss-craniofacial syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":1684,"name":"Deafness-ear malformation-facial palsy syndrome","encodedName":"deafness-ear-malformation-facial-palsy-syndrome","synonyms":["deafness, conductive stapedial, with ear malformation and facial palsy"," hearing loss-ear malformation-facial palsy syndrome"," sellars-beighton syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":17230,"name":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","encodedName":"deafness-encephaloneuropathy-obesity-valvulopathy-syndrome","synonyms":["coenzyme q10 deficiency, primary, type 2"," hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"," pdss1-related coenzyme q10 deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":1688,"name":"Deafness-epiphyseal dysplasia-short stature syndrome","encodedName":"deafness-epiphyseal-dysplasia-short-stature-syndrome","synonyms":["chitty hall baraitser syndrome"," chitty-hall-baraitser syndrome"," deafness with epiphyseal dysplasia and short stature syndrome"," growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction"," hearing loss-epiphyseal dysplasia-short stature syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":4303,"name":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","encodedName":"deafness-genital-anomalies-metacarpal-and-metatarsal-synostosis-syndrome","synonyms":["deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome"," hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome"," pfeiffer kapferer syndrome"," pfeiffer-kapferer syndrome"," sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Urologist","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":1691,"name":"Deafness-hypogonadism syndrome","encodedName":"deafness-hypogonadism-syndrome","synonyms":["deafness and hypogonadism syndrome"," dhs"," hearing loss-hypogonadism syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality"],"tagsAccount":["Infertility"],"tagsSpecialist":["Genetics","Endocrine","Otolaryngology","Urologist","Pediatrics"],"tagsCause":[]},{"id":11911,"name":"Deafness-infertility syndrome","encodedName":"deafness-infertility-syndrome","synonyms":["chromosome 15q15.3 deletion syndrome"," deafness and male infertility"," deafness infertility syndrome"," dis"," hearing loss-infertility syndrome"," sensorineural deafness and male infertility"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly","Infertility"],"tagsSpecialist":["Genetics","Otolaryngology","Urologist","Pediatrics"],"tagsCause":[]},{"id":16750,"name":"Deafness-intellectual disability, Martin-Probst type syndrome","encodedName":"deafness-intellectual-disability-martin-probst-type-syndrome","synonyms":["deafness and intellectual disability martin probst type syndrome"," deafness-intellectual disability syndrome, martin-probst type"," hearing loss-intellectual disability syndrome, martin-probst type"," intellectual disability, x-linked, syndromic, martin-probst type"," martin probst syndrome"," martin-probst syndrome"," martin-probst syndrome, x-linked recessive"," x-linked deafness and intellectual disability syndrome"," x-linked deafness-intellectual disability syndrome syndrome"," x-linked hearing loss-intellectual disability syndrome syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":13030,"name":"Deafness-lymphedema-leukemia syndrome","encodedName":"deafness-lymphedema-leukemia-syndrome","synonyms":["deafness - lymphedema - leukemia syndrome"," emberger syndrome"," lymphedema, primary, with myelodysplasia"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Vascular Medicine"],"tagsCause":[]},{"id":1698,"name":"Deafness-oligodontia syndrome","encodedName":"deafness-oligodontia-syndrome","synonyms":["autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia"," congenital profound sensorineural deafness and oligodontia"," deafness and oligodontia syndrome"," hearing loss-oligodontia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Odontology","Pediatrics"],"tagsCause":[]},{"id":2568,"name":"Deafness-small bowel diverticulosis-neuropathy syndrome","encodedName":"deafness-small-bowel-diverticulosis-neuropathy-syndrome","synonyms":["deafness, small bowel diverticulosis, neuropathy syndrome"," groll hirschowitz syndrome"," groll-hirschowitz syndrome"," hearing loss-small bowel diverticulosis-neuropathy syndrome"," nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":1705,"name":"Deafness-vitiligo-achalasia syndrome","encodedName":"deafness-vitiligo-achalasia-syndrome","synonyms":["deafness, congenital, with vitiligo and achalasia"," hearing loss-vitiligo-achalasia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":11903,"name":"Decreased circulating level of specific antibody","encodedName":"decreased-circulating-level-of-specific-antibody","synonyms":["abnormal specific antibody response"," decreased specific antibody in blood"," immunodeficiency due to selective anti-polysaccharide antibody deficiency"," specific anti-polysaccharide antibody deficiency"," specific antibody deficiency"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":21631,"name":"Deep dermatophytosis","encodedName":"deep-dermatophytosis","synonyms":["deep seated dermatophytosis"," dermatophytic granuloma"," dermatophytic mycetoma"," dermatophytosis profunda"," disseminated granulomatous dermatophytosis"," granuloma trichophyticum"," tinea profunda"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":17353,"name":"Deficiency in anterior pituitary function - variable immunodeficiency syndrome","encodedName":"deficiency-in-anterior-pituitary-function-variable-immunodeficiency-syndrome","synonyms":["david (deficiency in anterior pituitary function, variable immunodeficiency) syndrome"," david syndrome"," deficiency in anterior pituitary function-variable immunodeficiency syndrome"," deficiency in anterior pituitary function, variable immunodeficiency syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":["Primary Immune Deficiencies","Pituitary deficiency"],"tagsSpecialist":["Genetics","Immunology","Endocrine","Pediatrics"],"tagsCause":[]},{"id":10322,"name":"Deficiency of 2-methylbutyryl-CoA dehydrogenase","encodedName":"deficiency-of-2-methylbutyryl-coa-dehydrogenase","synonyms":["2-methylbutyric aciduria"," 2-methylbutyryl glycinuria"," 2-methylbutyryl-coa dehydrogenase deficiency"," 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease"," 2-methylbutyrylglycinuria"," acadsb"," acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase"," acyl-coa dehydrogenase, short/branched chain deficiency"," butyryl-coa dehydrogenase deficiency"," deficiency of 2-methylbutyryl-coenzyme a dehydrogenase"," developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency"," sbcad deficiency"," short branched-chain acyl-coa dehydrogenase deficiency"," short/branched-chain acyl-coa dehydrogenase deficiency"," short/branched-chain acyl-coa dehydrogenase deficiency disease"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":21319,"name":"Deficiency of 3-hydroxyacyl-CoA dehydrogenase","encodedName":"deficiency-of-3-hydroxyacyl-coa-dehydrogenase","synonyms":["3-hydroxyacyl-coa dehydrogenase deficiency"," 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"," deficiency of beta-hydroxyacyl dehydrogenase"," deficiency of beta-keto-reductase"," hadh deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics"],"tagsCause":[]},{"id":872,"name":"Deficiency of acetyl-CoA acetyltransferase","encodedName":"deficiency-of-acetyl-coa-acetyltransferase","synonyms":["2-methyl-3-hydroxybutyricacidemia"," 3-ketothiolase deficiency"," 3-methylhydroxybutyric acidemia"," 3-oxothiolase deficiency"," acetoacetyl-coa thiolase deficiency"," alpha methylacetoacetic aciduria"," alpha-methyl-acetoacetyl-coa thiolase deficiency"," alpha-methylacetoacetic aciduria"," alpha-methylacetoaceticaciduria"," beta-ketothiolase deficiency"," bkt"," deficiency of acetoacetyl-coa thiolase"," deficiency of acetyl-coenzyme a acetyltransferase"," ketothiolase deficiency"," mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated"," mitochondrial acetoacetyl-coa thiolase deficiency"," mitochondrial acetoacetyl-coenzyme a thiolase deficiency"," peroxisomal thiolase deficiency"," t2 deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":12383,"name":"Deficiency of adenosine deaminase 2","encodedName":"deficiency-of-adenosine-deaminase-2","synonyms":["ada2 deficiency"," adenosine deaminase 2 deficiency"," childhood-onset polyarteritis nodosa"," dada2"," polyarteritis nodosa, childhood-onset"," polyarteritis nodosa, childhoood-onset"," vasculitis due to ada2 deficiency"," vasculitis due to dada2"," vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Rheumatology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":6968,"name":"Deficiency of alpha-mannosidase","encodedName":"deficiency-of-alpha-mannosidase","synonyms":["alpha-d-mannosidosis"," alpha-mannosidase deficiency"," alpha-mannosidosis"," lysosomal alpha-d-mannosidase deficiency"," mannosidosis, alpha-, types i and ii"," mansa"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"tagsAccount":["Lysosomal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":770,"name":"Deficiency of aromatic-L-amino-acid decarboxylase","encodedName":"deficiency-of-aromatic-l-amino-acid-decarboxylase","synonyms":["aadc deficiency"," aromatic amino acid decarboxylase deficiency"," aromatic l-amino acid decarboxylase deficiency"," aromatic l-amino-acid decarboxylase deficiency"," ddc deficiency"," deficiency of dopa decarboxylase"," deficiency of hydroxytryptophan decarboxylase"," deficiency of tryptophan decarboxylase"," dopa decarboxylase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":16669,"name":"Deficiency of beta-ureidopropionase","encodedName":"deficiency-of-beta-ureidopropionase","synonyms":["beta-alanine synthase deficiency"," beta-ureidopropionase deficiency"," upb1d"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":1874,"name":"Deficiency of bisphosphoglycerate mutase","encodedName":"deficiency-of-bisphosphoglycerate-mutase","synonyms":["bpgm deficiency"," deficiency of bisphosphoglycerate synthase"," deficiency of diphosphoglycerate mutase"," deficiency of glycerate phosphomutase"," diphosphoglycerate mutase deficiency of erythrocyte"," diphosphoglycerate phosphatase deficiency"," dpgm deficiency"," erythrocytosis, familial, 8"," hemolytic anemia due to diphosphoglycerate mutase deficiency"],"tagsDiseaseCategory":["Genetics","Hematology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":4822,"name":"Deficiency of butyryl-CoA dehydrogenase","encodedName":"deficiency-of-butyryl-coa-dehydrogenase","synonyms":["acads - short chain acyl-coenzyme a dehydrogenase deficiency"," acads deficiency"," acadsd"," acyl-coa dehydrogenase, short-chain deficiency"," acyl-coa dehydrogenase, short-chain, deficiency of"," butyryl-coa dehydrogenase deficiency"," deficiency of butyryl dehydrogenase"," deficiency of unsaturated acyl-coa reductase"," scad"," scad - short chain acyl-coa dehydrogenase deficiency"," scad deficiency"," scad deficiency, mild"," scadd"," scadh deficiency"," short chain acyl coa dehydrogenase deficiency"," short chain acyl-coa dehydrogenase deficiency"," short chain acyl-coenzyme a dehydrogenase deficiency"," short-chain acyl-coa dehydrogenase deficiency (scad)"," short-chain acyl-coenzyme a dehydrogenase deficiency (scad)"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":7482,"name":"Deficiency of butyrylcholinesterase","encodedName":"deficiency-of-butyrylcholinesterase","synonyms":["acholinesterasemia"," apnea, postanesthetic, susceptibility to, due to bche deficiency"," bche, silent 1"," bched"," butyrylcholinesterase deficiency"," deficiency of benzoylcholinesterase"," deficiency of butyrylcholine esterase"," pseudocholinesterase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":9499,"name":"Deficiency of ferroxidase","encodedName":"deficiency-of-ferroxidase","synonyms":["acep"," aceruloplasminaemia"," aceruloplasminemia"," ceruloplasmin deficiency"," deficiency of ceruloplasmin"," familial apoceruloplasmin deficiency"," hereditary ceruloplasmin deficiency"," hypoceruloplasminemia, hereditary"," neurodegeneration with brain iron accumulation 10"],"tagsDiseaseCategory":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Hematology","Retinal"],"tagsCause":[]},{"id":2422,"name":"Deficiency of galactokinase","encodedName":"deficiency-of-galactokinase","synonyms":["galactokinase deficiency"," galactokinase deficiency galactosemia"," galactokinase deficiency with cataracts"," galactosemia - galactokinase deficiency"," galactosemia ii"," galactosemia type 2"," galk (galactokinase) deficiency"," galk deficiency"," galk-d"],"tagsDiseaseCategory":["Genetics","Nephrology","Inborn Errors of Metabolism"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":2578,"name":"Deficiency of guanidinoacetate methyltransferase","encodedName":"deficiency-of-guanidinoacetate-methyltransferase","synonyms":["ccds2"," cerebral creatine deficiency syndrome 2"," cerebral creatine deficiency syndrome type 2"," disorder of guanidinoacetate n-methyltransferase activity"," gamt deficiency"," guanidinoacetate methyltransferase deficiency"," guanidinoacetate n-methyltransferase activity disease"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16675,"name":"Deficiency of hyaluronoglucosaminidase","encodedName":"deficiency-of-hyaluronoglucosaminidase","synonyms":["deficiency of hyaluronidase"," hyaluronidase deficiency"," mps ix"," mps9"," mpsix"," mucopolysaccharidosis type 9"," mucopolysaccharidosis type ix"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"tagsAccount":["Lysosomal","Craniofacial Anomalies","Glaucoma"],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":8387,"name":"Deficiency of hydroxymethylglutaryl-CoA lyase","encodedName":"deficiency-of-hydroxymethylglutaryl-coa-lyase","synonyms":["3-hydroxy-3-methylglutaric aciduria"," 3-hydroxy-3-methylglutaryl-coa lyase deficiency"," 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency"," 3-oh 3-methyl glutaric aciduria"," defect in leucine metabolism"," hmg-coa lyase deficiency"," hmgcl deficiency"," hmgcld"," hydroxymethylglutaric aciduria"," hydroxymethylglutaryl-coa lyase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":10223,"name":"Deficiency of isobutyryl-CoA dehydrogenase","encodedName":"deficiency-of-isobutyryl-coa-dehydrogenase","spanishId":12191,"spanishName":"deficiencia-de-isobutiril-coa-deshidrogenasa","synonyms":["acad8 deficiency"," acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase"," acyl-coa dehydrogenase family, member 8, deficiency of"," deficiency of isobutyryl-coenzyme a dehydrogenase"," ibd deficiency"," isobutyric aciduria"," isobutyryl-coa dehydrogenase deficiency"," isobutyryl-coa dehydrogenase deficiency disease"," isobutyryl-coenzyme a dehydrogenase deficiency disease"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":["Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Pediatrics"],"tagsCause":[]},{"id":3371,"name":"Deficiency of malonyl-CoA decarboxylase","encodedName":"deficiency-of-malonyl-coa-decarboxylase","synonyms":["deficiency of malonyl-coenzyme a decarboxylase"," malonic aciduria"," malonyl-coa decarboxylase deficiency"," mcd deficiency"," mlycd-gene related malonic aciduria"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":21315,"name":"Deficiency of mevalonate kinase","encodedName":"deficiency-of-mevalonate-kinase","synonyms":["mevalonate kinase deficiency"," mkd"],"tagsDiseaseCategory":["Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Rheumatology","Dermatology","Pediatrics"],"tagsCause":[]},{"id":17747,"name":"Deficiency of ribose-5-phosphate isomerase","encodedName":"deficiency-of-ribose-5-phosphate-isomerase","synonyms":["deficiency of phosphopentosisomerase"," deficiency of phosphoriboisomerase"," ribose 5-phosphate isomerase deficiency"," ribose-5-p isomerase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of 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deficiency"," steroid 11-beta-monooxygenase deficiency"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":1469,"name":"Deficiency of steroid 17-alpha-monooxygenase","encodedName":"deficiency-of-steroid-17-alpha-monooxygenase","synonyms":["17 alpha-hydroxylase deficiency"," 17-alpha-hydroxylase deficiency"," 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia"," 17-alpha-hydroxylase/17,20-lyase deficiency"," adrenal hyperplasia v"," adrenogenital disorder due to 17-alpha-hydroxylase deficiency"," cah - 17-alpha-hydroxysteroid dehydrogenase deficiency"," cah - 17-hydroxylase deficiency"," cah due to 17-alpha-hydroxylase deficiency"," combined 17-hydroxylase/17,20-lyase deficiency"," congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"," congenital adrenal hyperplasia type 5"," 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dgi-iii"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Odontology","Pediatrics"],"tagsCause":[]},{"id":18909,"name":"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome","encodedName":"dentinogenesis-imperfecta-short-stature-hearing-loss-intellectual-disability-syndrome","synonyms":["dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"," dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Odontology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":1917,"name":"Dermatitis herpetiformis, familial","encodedName":"dermatitis-herpetiformis-familial","synonyms":["dh"," hereditary dermatitis 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Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":5674,"name":"Double Y syndrome","encodedName":"double-y-syndrome","spanishId":12242,"spanishName":"sindrome-47-xyy","synonyms":["47,xyy"," 47,xyy syndrome"," disomy y"," double y"," xyy karyotype"," xyy syndrome"," y disomy"," yy syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":9775,"name":"Dowling-Degos disease","encodedName":"dowling-degos-disease","synonyms":["dark dot disease"," dowling-degos disease type 1"," reticular pigment anomaly of flexures"],"tagsDiseaseCategory":["Genetics","Dermatology","Inborn Errors of Metabolism"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":1912,"name":"Doyne honeycomb retinal 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myophosphorylase deficiency glycogenosis"," pygm deficiency"," pygm glycogen storage disease"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":6529,"name":"Glycogen storage disease, type VI","encodedName":"glycogen-storage-disease-type-vi","synonyms":["glycogen storage disease caused by mutation in pygl"," glycogen storage disease due to liver glycogen phosphorylase deficiency"," glycogen storage disease type 6"," glycogen storage disease type 6, due to phosphorylation"," glycogen storage disease type vi"," glycogen storage disease vi"," glycogenosis due to liver glycogen phosphorylase deficiency"," glycogenosis type 6"," glycogenosis type vi"," gsd due to liver glycogen phosphorylase deficiency"," gsd type 6"," gsd type vi"," gsd vi"," gsd6"," hepatic glycogen phosphorylase deficiency"," hepatic phosphorylase deficiency"," 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late-infantile gm1 gangliosidosis"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"tagsAccount":["Lysosomal","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Epilepsy","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":2431,"name":"GM1 gangliosidosis type 3","encodedName":"gm1-gangliosidosis-type-3","synonyms":["adult gm1 gangliosidosis"," adult-onset gm1 gangliosidosis"," gangliosidosis, generalized gm1, adult type"," gangliosidosis, generalized gm1, chronic type"," gangliosidosis, generalized gm1, type 3"," gangliosidosis, generalized gm1, type iii"," gm1 gangliosidosis type iii"," gm1-gangliosidosis, type iii"," type 3 (adult) gm1 gangliosidosis"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"tagsAccount":["Lysosomal","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Epilepsy","Neurodevelopmental 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tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":6554,"name":"Guillain-Barre syndrome","encodedName":"guillain-barre-syndrome","spanishId":12899,"spanishName":"sindrome-de-guillain-barre","synonyms":["acute postinfectious polyneuropathy"," gbs"," guillain barre syndrome"," guillain barré syndrome"," guillain-barre-strohl syndrome"," guillain-barré syndrome"," guillain-barré-strohl syndrome"," landry-guillain-barre syndrome"," landry-guillain-barre-strohl syndrome"," landry-guillain-barré syndrome"," landry's ascending paralysis"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Neurology","Pediatrics"],"tagsCause":[]},{"id":4470,"name":"Guttmacher syndrome","encodedName":"guttmacher-syndrome","synonyms":["preaxial deficiency-postaxial 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Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pulmonology","Neurology","Ophthalmology","Gastroenterology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":44,"name":"Haim-Munk syndrome","encodedName":"haim-munk-syndrome","spanishId":12612,"spanishName":"sindrome-de-haim-munk","synonyms":["cochin jewish disorder"," haim munk syndrome"," hms"," keratosis palmoplantaris with periodontopathia and onychogryposis"," keratosis palmoplantaris with periodontopathia and onychogryposis syndrome"," keratosis palmoplantaris-periodontopathia-onychogryposis syndrome"," palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome"," palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Odontology","Pediatrics"],"tagsCause":[]},{"id":6560,"name":"Hairy cell 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syndrome"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Rheumatology","Nephrology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":2586,"name":"Hall-Riggs syndrome","encodedName":"hall-riggs-syndrome","synonyms":["hall riggs syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":288,"name":"Hallermann-Streiff syndrome","encodedName":"hallermann-streiff-syndrome","spanishId":13678,"spanishName":"sindrome-de-hallermann-streiff","synonyms":["franc'ois dyscephalic syndrome"," francois dyscephalic syndrome"," françois dyscephalic syndrome"," hallerman - streiff syndrome"," hallermann syndrome"," hallermann's syndrome"," hss"," oculomandibulodyscephaly with hypotrichosis syndrome"," oculomandibulofacial syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Ectodermal dysplasia"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3118,"name":"Hallux varus-preaxial polysyndactyly syndrome","encodedName":"hallux-varus-preaxial-polysyndactyly-syndrome","synonyms":["hallux varus and preaxial polysyndactyly"," hallux varus, preaxial polysyndactyly syndrome"," kleiner holmes syndrome"," kleiner-holmes syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":2594,"name":"Hand-foot-genital syndrome","encodedName":"hand-foot-genital-syndrome","synonyms":["hand-foot-uterus syndrome"," hfg"," hfg syndrome"," hfgs"," hfu syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"tagsCause":[]},{"id":69,"name":"Hantavirus pulmonary syndrome","encodedName":"hantavirus-pulmonary-syndrome","synonyms":[""],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease"],"tagsCause":[]},{"id":17915,"name":"Harel-Yoon syndrome","encodedName":"harel-yoon-syndrome","synonyms":["harel yoon syndrome"," harel-yoon syndrome"," hayos"," hayos"," ocular anomalies-axonal neuropathy-developmental delay syndrome"," ocular anomalies, axonal neuropathy, developmental delay syndrome"," optic atrophy-peripheral neuropathy-developmental delay syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral 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anemia"," sickle cell disease"," sickle cell syndrome"," sickle cell-hemoglobin ss disease"," sickle-cell/hb-c disease without crisis"," sickling disorder due to haemoglobin s"," sickling disorder due to hemoglobin s"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Hematology"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Neurology","Rheumatology","Nephrology","Hematology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":18788,"name":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","encodedName":"hearing-loss-familial-salivary-gland-insensitivity-to-aldosterone-syndrome","synonyms":["tungland-bellman syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":4166,"name":"Heart defect - tongue hamartoma - polysyndactyly syndrome","encodedName":"heart-defect-tongue-hamartoma-polysyndactyly-syndrome","synonyms":["congenital 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hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas"," parathyroid adenoma with cystic changes"],"tagsDiseaseCategory":["Cancer","Genetics","Nephrology","Endocrine"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Nephrology","Endocrine","Pediatrics"],"tagsCause":[]},{"id":21199,"name":"Hyperphalangy","encodedName":"hyperphalangy","synonyms":["supernumerary phalanges"," supernumerary phalanx"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics"],"tagsCause":[]},{"id":17950,"name":"Hyperphenylalaninemia due to DNAJC12 deficiency","encodedName":"hyperphenylalaninemia-due-to-dnajc12-deficiency","synonyms":["hyperphenylalaninemia, mild, non-bh4-deficient"," non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of 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hypertelorism-microtia-clefting syndrome"," hypertelorism-microtia-facial clefting syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":143,"name":"Hypertrichosis cubiti-short stature syndrome","encodedName":"hypertrichosis-cubiti-short-stature-syndrome","synonyms":["elbow hypertrichosis"," hairy elbow"," hairy elbow syndrome"," hairy elbows"," hairy elbows syndrome"," hypertrichosis cubiti"," macdermot-patton-williams syndrome"," pilosity of elbow"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Ectodermal dysplasia"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":2865,"name":"Hypertrichosis lanuginosa congenita","encodedName":"hypertrichosis-lanuginosa-congenita","synonyms":["congenital hypertrichosis 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mutation"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":10917,"name":"Hypomyelinating leukodystrophy 6","encodedName":"hypomyelinating-leukodystrophy-6","synonyms":["h-abc"," h-abc - hypomyelination, atrophy of basal ganglia and cerebellum"," habc"," hld6"," hypomyelinating leukodystrophy type 6"," hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum"," hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum"," hypomyelination with atrophy of basal ganglia and cerebellum"," hypomyelination with atrophy of basal ganglia and cerebellum syndrome"," leukodystrophy, hypomyelinating, type 6"," leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum"," tubb4a-associated leukodystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":17734,"name":"Hypomyelinating leukodystrophy 9","encodedName":"hypomyelinating-leukodystrophy-9","synonyms":["arginyl-trna synthetase 1-related autosomal recessive hypomyelinating leukodystrophy"," hld9"," hypomyelinating leukodystrophy type 9"," leukodystrophy caused by mutation in rars"," leukodystrophy, hypomyelinating, type 9"," rars leukodystrophy"," rars-related autosomal recessive hypomyelinating leukodystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":11980,"name":"Hypomyelination and Congenital Cataract","encodedName":"hypomyelination-and-congenital-cataract","synonyms":["fam126a leukodystrophy"," hcc - hypomyelination and 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hypoparathyroidism, deafness, and renal anomalies syndrome"," hypoparathyroidism, sensorineural deafness, and renal disease"," hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome"],"tagsDiseaseCategory":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly","Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Endocrine","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":9334,"name":"Hypopharynx cancer","encodedName":"hypopharynx-cancer","synonyms":["hypopharyngeal cancer"," hypopharynx pharynx cancer"," hypural pharynx cancer"," malignant hypopharyngeal neoplasm"," malignant hypopharyngeal tumor"," malignant hypopharyngeal tumour"," malignant neoplasm of hypopharynx"," malignant neoplasm of ill-defined sites within the lip and oral cavity"," malignant neoplasm of laryngopharynx"," malignant neoplasm of other specified hypopharyngeal site"," malignant neoplasm of other specified sites of hypopharynx"," malignant 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disability, Goldblatt type syndrome","encodedName":"hypospadias-intellectual-disability-goldblatt-type-syndrome","synonyms":["goldblatt wallis syndrome"," goldblatt-wallis syndrome"," hypospadias intellectual deficit goldblatt type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Urologist","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":19084,"name":"Hypothalamic hamartomas with gelastic seizures","encodedName":"hypothalamic-hamartomas-with-gelastic-seizures","synonyms":["gelastic seizures with hypothalamic hamartoma"," gs-hh - gelastic seizures with hypothalamic hamartoma"," hypothalamic hamartoma with gelastic seizure"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy"],"tagsCause":[]},{"id":20562,"name":"Hypothyroidism due to deficient transcription factors involved in pituitary 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generalized"," trh (thyrotropin-releasing hormone) resistance syndrome"," trh resistance syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":16950,"name":"Hypotonia with lactic acidemia and hyperammonemia","encodedName":"hypotonia-with-lactic-acidemia-and-hyperammonemia","synonyms":["combined oxidative phosphorylation defect type 5"," combined oxidative phosphorylation deficiency caused by mutation in mrps22"," combined oxidative phosphorylation deficiency type 5"," coxpd5"," coxpd5 - combined oxidative phosphorylation defect 5"," mrps22 combined oxidative phosphorylation deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":16725,"name":"Hypotonia-failure to thrive-microcephaly syndrome","encodedName":"hypotonia-failure-to-thrive-microcephaly-syndrome","synonyms":["deficiency of leukotriene c4 synthase"," hypotonia with failure to thrive and microcephaly syndrome"," leukotriene c4 synthase deficiency"," ltc4 synthase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":17609,"name":"Hypotonia, infantile, with psychomotor retardation and characteristic facies","encodedName":"hypotonia-infantile-with-psychomotor-retardation-and-characteristic-facies","synonyms":["hypotonia-speech impairment-severe cognitive delay syndrome"," hypotonia, speech impairment, severe cognitive delay syndrome"," ihprf"," ihprf (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome"," ihprf syndrome"," infantile hypotonia-psychomotor retardation-characteristic facies syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital 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hypotrichosis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9170,"name":"Hypotrichosis simplex","encodedName":"hypotrichosis-simplex","synonyms":["hereditary hypotrichosis simplex"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":16789,"name":"Hypotrichosis simplex of the scalp","encodedName":"hypotrichosis-simplex-of-the-scalp","synonyms":["hereditary hypotrichosis simplex of the scalp"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":21504,"name":"Hypotrichosis-deafness syndrome","encodedName":"hypotrichosis-deafness-syndrome","synonyms":["hypotrichosis and deafness syndrome"," hypotrichosis-hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital 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cell"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9330,"name":"Malignant germ cell tumor of ovary","encodedName":"malignant-germ-cell-tumor-of-ovary","synonyms":["malignant germ cell neoplasm of ovary"," malignant germ cell neoplasm of the ovary"," malignant germ cell tumor of the ovary"," malignant germ cell tumour of the ovary"," malignant ovarian germ cell neoplasm"," malignant ovarian germ cell tumor"," malignant ovarian germ cell tumour"," mogct"," ovarian germ cell cancer"," ovary malignant germ cell tumor"," ovary malignant germ cell tumour"],"tagsDiseaseCategory":["Cancer","Urogenital Disorders"],"tagsAccount":["Rare gynecological tumor"],"tagsSpecialist":["Cancer - Oncologist","Obstetrics / Gynecology","Rare gynecological tumor","Pediatrics"],"tagsCause":[]},{"id":6964,"name":"Malignant hyperthermia of anesthesia","encodedName":"malignant-hyperthermia-of-anesthesia","synonyms":["anaesthesia related hyperthermia"," anesthesia 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lymphoma"," diffuse large b cell lymphoma"," diffuse large b cell malignant lymphoma"," diffuse large b-cell lymphoma"," diffuse large b-cell malignant lymphoma"," diffuse large cleaved cell malignant lymphoma"," diffuse large noncleaved cell malignant lymphoma"," diffuse malignant lymphoma - histiocytic"," diffuse malignant lymphoma - large cell"," diffuse non-hodgkin lymphoma, large cell"," diffuse non-hodgkin's lymphoma, large cell"," dlbcl"," dlbcl - diffuse large b cell lymphoma"," histiocytic diffuse malignant lymphoma"," histiocytic malignant lymphoma"," large b-cell malignant lymphoma"," large cell malignant lymphoma"," large cleaved cell and noncleaved cell malignant lymphoma"," large cleaved cell malignant lymphoma"," large noncleaved cell malignant lymphoma"," lymphoma, diffuse large b cell, non hodgkins"," malignant lymphoma - large cell cleaved and non-cleaved"," noncleaved malignant lymphoma"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":12919,"name":"Malignant migrating partial seizures of infancy","encodedName":"malignant-migrating-partial-seizures-of-infancy","synonyms":["malignant migrating focal seizures of infancy"," malignant migrating partial epilepsy of infancy"," malignant migrating partial seizures in infancy"," migrating partial epilepsy of infancy"," migrating partial seizures in infancy"," migrating partial seizures of infancy"," mmpei"," mmpsi"," mpei"," mpsi"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":10872,"name":"Malignant peripheral nerve sheath tumor","encodedName":"malignant-peripheral-nerve-sheath-tumor","synonyms":["malig. periph. nerve sheath tum."," malignant neoplasm of peripheral nerve sheath"," malignant neoplasm of the 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malignant germ cell neoplasm of the pineal gland"," malignant germ cell neoplasm of the pineal parenchyma"," malignant germ cell tumor of pineal gland"," malignant germ cell tumor of pineal parenchyma"," malignant germ cell tumor of the pineal gland"," malignant germ cell tumor of the pineal parenchyma"," malignant germ cell tumour of pineal gland"," malignant germ cell tumour of pineal parenchyma"," malignant germ cell tumour of the pineal gland"," malignant germ cell tumour of the pineal parenchyma"," malignant pineal area germ cell tumor"," malignant pineal area germ cell tumour"," malignant pineal gland germ cell neoplasm"," malignant pineal gland germ cell tumor"," malignant pineal gland germ cell tumour"," malignant pineal parenchymal germ cell neoplasm"," malignant pineal parenchymal germ cell tumor"," malignant pineal parenchymal germ cell tumour"," malignant pineal region germ cell neoplasm"," malignant pineal region germ cell tumor"," malignant pineal region germ cell tumour"," pineal germ cell neoplasm, malignant"," pineal germ cell tumor"," pineal germ cell tumour"," pineal region germ cell tumor"," pineal region germ cell tumour"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":24150,"name":"Malignant pleural mesothelioma","encodedName":"malignant-pleural-mesothelioma","synonyms":["malignant mesothelioma of pleura"," malignant mesothelioma of the pleura"," pleural diffuse malignant mesothelioma"," pleural malignant mesothelioma"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":5495,"name":"Malignant Sertoli-Leydig cell tumor of ovary","encodedName":"malignant-sertoli-leydig-cell-tumor-of-ovary","synonyms":["malignant ovarian sertoli-leydig cell tumor"," malignant ovarian sertoli-leydig cell tumour"," malignant sertoli-leydig cell tumor of the ovary"," ovarian malignant sertoli-leydig cell tumor"," ovarian malignant sertoli-leydig cell tumour"," ovarian sertoli-leydig cell cancer"," ovarian sertoli-leydig cell tumor, malignant"," primary malignant sertoli-leydig cell tumor of ovary"," virilizing ovarian tumor"," virilizing ovarian tumour"],"tagsDiseaseCategory":["Cancer","Urogenital Disorders"],"tagsAccount":["Rare gynecological tumor"],"tagsSpecialist":["Cancer - Oncologist","Obstetrics / Gynecology","Rare gynecological tumor","Pediatrics"],"tagsCause":[]},{"id":9385,"name":"Malignant tumor of small intestine","encodedName":"malignant-tumor-of-small-intestine","synonyms":["cancer of small intestine"," malignant neoplasm of small bowel"," malignant neoplasm of small intestine"," malignant neoplasm of the small bowel"," malignant neoplasm of the small intestine"," malignant neoplasms of the small intestine"," malignant small bowel neoplasm"," malignant small bowel tumor"," malignant small bowel tumour"," malignant small intestinal neoplasm"," malignant small intestine neoplasm"," malignant small intestine tumor"," malignant small intestine tumour"," malignant tumor of small bowel"," malignant tumor of the small bowel"," malignant tumor of the small intestine"," malignant tumour of small bowel"," malignant tumour of small intestine"," malignant tumour of the small bowel"," malignant tumour of the small intestine"," small bowel tumors"," small intestine cancer"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":17180,"name":"Mammary-digital-nail syndrome","encodedName":"mammary-digital-nail-syndrome","synonyms":["mammary digital nail syndrome"," mdn (mammary digital nail) syndrome"," mdn syndrome"," mdns"," onycho-digito-mammary syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"tagsCause":[]},{"id":12417,"name":"MAN1B1-congenital disorder of 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large lower jaw"," large mandible"," lower jaw excess"," lower jaw hyperplasia"," macromandible"," malocclusion, angle class iii"," mandible prognathism"," mandibular excess"," mandibular hyperplasia"," mandibular macrognathia"," mandibular prognathism"," prognathia"," prognathism"," prominent chin"," prominent jaw"," prominent lower jaw"," prominent mandible"," protrusive chin"," protrusive occlusion"," relative mandibular prognathism"," undershot jaw"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":11893,"name":"Mandibuloacral dysplasia","encodedName":"mandibuloacral-dysplasia","synonyms":["craniomandibular dermatodysostosis"," familial mandibuloacral dysplasia"," mad"," mada"," mandibuloacral dysostosis"," mandibuloacral dysplasia with lipodystrophy"],"tagsDiseaseCategory":["Genetics","Endocrine","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Ophthalmology","Endocrine","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":3374,"name":"Mandibuloacral dysplasia with type A lipodystrophy","encodedName":"mandibuloacral-dysplasia-with-type-a-lipodystrophy","synonyms":["lipodystrophy, type a, associated with mandibuloacral dysplasia"," mada"," mandibuloacral dysostosis co-occurrent with type a lipodystrophy"],"tagsDiseaseCategory":["Genetics","Endocrine","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Ophthalmology","Endocrine","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":9989,"name":"Mandibuloacral dysplasia with type B lipodystrophy","encodedName":"mandibuloacral-dysplasia-with-type-b-lipodystrophy","synonyms":["lipodystrophy, type b, associated with mandibuloacral dysplasia"," madb"," mandibuloacral dysostosis co-occurrent with type b lipodystrophy"],"tagsDiseaseCategory":["Genetics","Endocrine","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Ophthalmology","Endocrine","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":17758,"name":"Mandibulofacial dysostosis with alopecia","encodedName":"mandibulofacial-dysostosis-with-alopecia","synonyms":["mfda"," mfda - mandibulofacial dysostosis with alopecia"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Dermatology","Orthopedics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":17547,"name":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","encodedName":"mandibulofacial-dysostosis-macroblepharon-macrostomia-syndrome","synonyms":["macroblepharon-ectropion-hypertelorism-macrostomia syndrome"," macroblepharon, ectropion, hypertelorism, and macrostomia"," mandibulofacial dysostosis with macroblepharon and macrostomia"," verloes-lesenfants syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":10056,"name":"Mandibulofacial dysostosis-microcephaly syndrome","encodedName":"mandibulofacial-dysostosis-microcephaly-syndrome","synonyms":["mandibulofacial dysostosis with microcephaly"," mandibulofacial dysostosis, guion-almeida type"," mfdga"," mfdm syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":8216,"name":"Mansonelliasis","encodedName":"mansonelliasis","synonyms":["acanthocheilonema perstans infection"," acanthocheilonemiasis"," dipetalonema infection"," dipetalonema infections"," dipetalonema infectious disease"," dipetalonemiasis"," infection by dipetalonema"," infection by dipetalonema perstans"," infection by dipetalonema perstans (disorder) [ambiguous]"," mansonella perstans"," mansonella perstans caused disease or disorder"," mansonella perstans infections"," mansonellosis"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":6969,"name":"Mantle cell lymphoma","encodedName":"mantle-cell-lymphoma","synonyms":["classical mantle cell lymphoma"," lcm"," mantle zone lymphoma"," mcl"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":3228,"name":"Maple syrup urine disease","encodedName":"maple-syrup-urine-disease","synonyms":["bckd - branched-chain 2-ketoacid dehydrogenase deficiency"," bckd deficiency"," bckdh deficiency"," branched chain ketoacid dehydrogenase deficiency"," branched chain ketoaciduria"," branched-chain 2-ketoacid dehydrogenase deficiency"," branched-chain alpha-keto acid dehydrogenase deficiency"," branched-chain ketoaciduria"," ketoacid decarboxylase deficiency"," ketoacidaemia"," ketoacidemia"," msud"," msud - maple syrup urine disease"," oxo-acid decarboxylase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9444,"name":"Marburg virus disease","encodedName":"marburg-virus-disease","synonyms":["green monkey disease"," marburg disease"," marburg hemorrhagic fever"," mhf"," vervet monkey disease"," viral hemorrhagic fever, marburg"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":6971,"name":"Marchiafava-Bignami 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disease"," marfan's syndrome"," mfs"," mfs1"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Rheumatology","Orthopedics","Anterior segment of Eye","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":3388,"name":"Marfanoid habitus-autosomal recessive intellectual disability syndrome","encodedName":"marfanoid-habitus-autosomal-recessive-intellectual-disability-syndrome","synonyms":["fragoso-cantú syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":21368,"name":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","encodedName":"marfanoid-habitus-inguinal-hernia-advanced-bone-age-syndrome","synonyms":["marfanoid habitus, inguinal hernia, advanced bone age syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":13237,"name":"Marginal zone lymphoma","encodedName":"marginal-zone-lymphoma","synonyms":["lymphoma of marginal zone b cell"," marginal zone b cell lymphoma"," marginal zone b-cell lymphoma"," mzbcl"," mzl"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Hematology"],"tagsCause":[]},{"id":3390,"name":"Marie Unna syndrome","encodedName":"marie-unna-syndrome","synonyms":["hr hypotrichosis"," hypotrichosis caused by mutation in hr"," hypotrichosis, marie unna type"," marie unna congenital hypotrichosis"," marie unna hereditary hypotrichosis"," muhh"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":8341,"name":"Marinesco-Sjögren 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Eye","Pediatrics"],"tagsCause":[]},{"id":6985,"name":"Marshall-Smith syndrome","encodedName":"marshall-smith-syndrome","synonyms":["accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"," accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome"," mrshss"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3406,"name":"Martsolf syndrome 1","encodedName":"martsolf-syndrome-1","synonyms":["cataract-intellectual disability-hypogonadism syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Infertility","Pituitary deficiency"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Endocrine","Obstetrics / Gynecology","Urologist","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":6986,"name":"MASA syndrome","encodedName":"masa-syndrome","synonyms":["gareis-mason syndrome"," hereditary spastic paraplegia 1"," intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome"," intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome"," masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome"," masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia)"," masa syndrome, x-linked recessive"," mental retardation, adducted thumbs, shuffling gait, aphasia syndrome"," spastic paraplegia 1, x-linked"," spastic paraplegia, x-linked"," x-linked complicated hereditary spastic paraplegia type 1"," x-linked corpus callosum agenesis"," x-linked spastic paraplegia 1"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":8489,"name":"MASS syndrome","encodedName":"mass-syndrome","synonyms":["mass phenotype"," octd"," overlap connective tissue disease"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3407,"name":"Massa casaer ceulemans syndrome","encodedName":"massa-casaer-ceulemans-syndrome","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":12981,"name":"Mast cell activation syndrome","encodedName":"mast-cell-activation-syndrome","synonyms":["disorder of mast cell activation"," macs"," mast cell activation disease"," mcad - mast cell activation disorder"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":16939,"name":"Mast syndrome","encodedName":"mast-syndrome","synonyms":["autosomal recessive spastic paraplegia 21"," autosomal recessive spastic paraplegia type 21"," hereditary spastic paraplegia 21"," spastic paraplegia 21, autosomal recessive"," spg21"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":6987,"name":"Mastocytosis","encodedName":"mastocytosis","spanishId":13476,"spanishName":"mastocitosis","synonyms":["mast cell disease"," mast cell hyperplasia"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Hematology","Pediatrics"],"tagsCause":[]},{"id":2856,"name":"Maternal hyperthermia induced birth defects","encodedName":"maternal-hyperthermia-induced-birth-defects","synonyms":["birth defect due to maternal hyperthermia"," maternal hyperthermia induced birth defect"," maternal hyperthermia-induced birth defects"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial 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1","encodedName":"maternal-uniparental-disomy-of-chromosome-1","synonyms":["maternal uniparental disomy of chromosome type 1"," upd(1)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19382,"name":"Maternal uniparental disomy of chromosome 13","encodedName":"maternal-uniparental-disomy-of-chromosome-13","synonyms":["maternal uniparental disomy of chromosome type 13"," upd(13)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics"],"tagsCause":[]},{"id":19336,"name":"Maternal uniparental disomy of chromosome 16","encodedName":"maternal-uniparental-disomy-of-chromosome-16","synonyms":["maternal uniparental disomy of chromosome type 16"," upd(16)mat"],"tagsDiseaseCategory":["Genetics","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":19331,"name":"Maternal uniparental disomy of chromosome 2","encodedName":"maternal-uniparental-disomy-of-chromosome-2","synonyms":["maternal uniparental disomy of chromosome type 2"," upd(2)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":16849,"name":"Maternal uniparental disomy of chromosome 20","encodedName":"maternal-uniparental-disomy-of-chromosome-20","synonyms":["maternal uniparental disomy of chromosome type 20"," maternal upd(20)"," maternal upd20 (uniparental disomy of chromosome 20)"," mulchandani-bhoj-conlin syndrome"," uniparental disomy, maternal, chromosome 20"," upd(20)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19337,"name":"Maternal uniparental disomy of chromosome 21","encodedName":"maternal-uniparental-disomy-of-chromosome-21","synonyms":["maternal uniparental disomy of chromosome type 21"," upd(21)mat"," upd(21)mat - maternal uniparental disomy of chromosome 21"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics"],"tagsCause":[]},{"id":19338,"name":"Maternal uniparental disomy of chromosome 22","encodedName":"maternal-uniparental-disomy-of-chromosome-22","synonyms":["maternal uniparental disomy of chromosome type 22"," upd(22)mat"," upd(22)mat - maternal uniparental disomy of chromosome 22"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19332,"name":"Maternal uniparental disomy of chromosome 4","encodedName":"maternal-uniparental-disomy-of-chromosome-4","synonyms":["maternal uniparental disomy of chromosome type 4"," upd(4)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19333,"name":"Maternal uniparental disomy of chromosome 6","encodedName":"maternal-uniparental-disomy-of-chromosome-6","synonyms":["maternal uniparental disomy of chromosome type 6"," upd(6)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19335,"name":"Maternal uniparental disomy of chromosome 9","encodedName":"maternal-uniparental-disomy-of-chromosome-9","synonyms":["maternal uniparental disomy of chromosome type 9"," upd(9)mat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":20783,"name":"Maternal uniparental disomy of chromosome X","encodedName":"maternal-uniparental-disomy-of-chromosome-x","synonyms":["maternal uniparental disomy of chromosome type x"," upd(x)mat"," upd(x)mat - maternal uniparental disomy of chromosome x"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":18719,"name":"Maternally-inherited cardiomyopathy and hearing loss","encodedName":"maternally-inherited-cardiomyopathy-and-hearing-loss","synonyms":["maternally inherited cardiomyopathy and deafness"," maternally inherited cardiomyopathy and hearing loss syndrome"," maternally-inherited cardiomyopathy and deafness"," mitochondrial dna-related cardiomyopathy and hearing loss"," mtdna-related cardiomyopathy and deafness"," mtdna-related cardiomyopathy and hearing loss"," trna-lys-related cardiomyopathy-hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Pediatrics"],"tagsCause":[]},{"id":3671,"name":"Maternally-inherited Leigh syndrome","encodedName":"maternally-inherited-leigh-syndrome","synonyms":["maternally inherited infantile subacute necrotizing encephalopathy"," maternally inherited leigh disease"," maternally inherited leigh syndrome"," maternally-inherited infantile subacute necrotizing encephalopathy"," maternally-inherited leigh disease"," mils"," mitochondrial dna-associated leigh syndrome"," mtdna-associated leigh syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":20767,"name":"Maternally-inherited mitochondrial dystonia","encodedName":"maternally-inherited-mitochondrial-dystonia","synonyms":["maternally inherited mitochondrial dystonia"," mitochondrial dna-related dystonia"," mtdna-related dystonia"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":21433,"name":"Maternally-inherited spastic paraplegia","encodedName":"maternally-inherited-spastic-paraplegia","synonyms":["maternally-inherited spg"," mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial spastic paraplegia"," mt-atp6-related mitochondrial spastic paraplegia"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Hereditary Spastic Paraplegia"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":713,"name":"Matthew-Wood syndrome","encodedName":"matthew-wood-syndrome","synonyms":["anophthalmia with pulmonary hypoplasia syndrome"," anophthalmia-pulmonary hypoplasia syndrome"," anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm"," anophthalmia/microphthalmia and pulmonary hypoplasia"," matthew wood syndrome"," mcops9"," microphthalmia syndromic type 9"," microphthalmia, syndromic type 9"," pdac syndrome"," pulmonary agenesis, microphthalmia, and diaphragmatic defect"," pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome"," spear syndrome"," syndromic microphthalmia type 9"],"tagsDiseaseCategory":["Genetics","Pulmonology","Neurology","Gastroenterology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Pulmonology","Neurology","Ophthalmology","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":7368,"name":"Mature T-cell and NK-cell non-Hodgkin lymphoma","encodedName":"mature-t-cell-and-nk-cell-non-hodgkin-lymphoma","synonyms":["mature t-and nk-cell lymphoma"," mature t-cell and nk-cell lymphoma"," mature t-cell and nk-cell non-hodgkin's lymphoma"," mature t-cell lymphoma"," mature t-cell non-hodgkin's lymphoma"," ptcl"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3697,"name":"Maturity-onset diabetes of the young","encodedName":"maturity-onset-diabetes-of-the-young","synonyms":["mason-type diabetes"," maturity onset diabetes mellitus in young"," maturity onset diabetes of the young"," maturity-onset diabetes of the young (disease)"," mody"," mody - maturity onset diabetes of young"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":4737,"name":"Mayer Rokitansky Kuster Hauser syndrome type 1","encodedName":"mayer-rokitansky-kuster-hauser-syndrome-type-1","synonyms":["mayer rokitansky küster hauser syndrome type 1"," mayer-rokitansky-kuster-hauser syndrome type 1"," mayer-rokitansky-küster-hauser syndrome type 1"," mrkh"," mrkh (mayer rokitansky küster hauser) syndrome type 1"," mrkh syndrome type 1"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology","Infertility"],"tagsSpecialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":5445,"name":"Mayer-Rokitansky-Kuster-Hauser syndrome","encodedName":"mayer-rokitansky-kuster-hauser-syndrome","synonyms":["cauv"," congenital absence of uterus and vagina"," mayer rokitansky küster hauser syndrome"," mayer-rokitansky-küster-hauser syndrome"," mrkh"," mrkh syndrome"," mullerian aplasia/dysgenesis"," rokitansky kuster hauser syndrome"," rokitansky sequence"," rokitansky syndrome"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology","Infertility"],"tagsSpecialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":5513,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","encodedName":"mayer-rokitansky-kster-hauser-syndrome-type-2","synonyms":["atypical mrkh (mayer rokitansky kuster hauser) syndrome"," atypical mrkh syndrome"," klippel-feil deformity, conductive deafness, and absent vagina"," mayer-rokitansky-kuster-hauser syndrome, type ii"," mrkh syndrome type 2"," mrkh, type ii"," mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"," mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome"," mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies"," murcs association"," müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"],"tagsDiseaseCategory":["Genetics","Nephrology","Gastroenterology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology","Infertility"],"tagsSpecialist":["Genetics","Nephrology","Gastroenterology","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":18853,"name":"Mazabraud syndrome","encodedName":"mazabraud-syndrome","synonyms":["fibrous dysplasia of bone with intramuscular myxoma"," fibrous dysplasia with intramuscular myxoma"," myxoma with fibrous dysplasia"],"tagsDiseaseCategory":["Cancer","Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics","Orthopedics"],"tagsCause":[]},{"id":6995,"name":"McCune-Albright syndrome","encodedName":"mccune-albright-syndrome","spanishId":11861,"spanishName":"sindrome-de-mccune-albright","synonyms":["albright syndrome"," albright's disease"," albright's syndrome"," gonadotropin-independent female-limited sexual precocity"," mas"," mccune albright syndrome"," mccune-albright syndrome, somatic, mosaic"],"tagsDiseaseCategory":["Genetics","Endocrine","Dermatology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Endocrine","Dermatology","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"tagsCause":[]},{"id":3424,"name":"McDonough syndrome","encodedName":"mcdonough-syndrome","synonyms":[""],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3427,"name":"McKusick-Kaufman syndrome","encodedName":"mckusick-kaufman-syndrome","synonyms":["hydrometrocolpos syndrome"," hydrometrocolpos-postaxial polydactyly syndrome"," hydrometrocolpos, postaxial polydactyly, and congenital heart malformation"," kaufman-mckusick syndrome"," mckusick kaufman syndrome"," mkks"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":10731,"name":"McLeod neuroacanthocytosis syndrome","encodedName":"mcleod-neuroacanthocytosis-syndrome","synonyms":["blood group deletion syndrome"," mclds"," mcleod phenotype"," mcleod syndrome"," mcleod syndrome with or without chronic granulomatous disease"," mls"," neuroacanthocytosis, mcleod type"," x-linked mcleod syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Hematology"],"tagsAccount":["Epilepsy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Psychiatry","Hematology","Epilepsy"],"tagsCause":[]},{"id":3432,"name":"Meacham syndrome","encodedName":"meacham-syndrome","synonyms":["meacham winn culler syndrome"," meacham-winn-culler syndrome"," rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":8743,"name":"Meckel syndrome, type 2","encodedName":"meckel-syndrome-type-2","synonyms":["meckel syndrome caused by mutation in tmem216"," meckel-gruber syndrome, type 2"," mks2"," mks2-related meckel syndrome"," tmem216 meckel syndrome"," tmem216-related meckel syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":8744,"name":"Meckel syndrome, type 3","encodedName":"meckel-syndrome-type-3","synonyms":["meckel syndrome caused by mutation in tmem67"," meckel-gruber syndrome, type 3"," mks3"," tmem67 meckel syndrome"," tmem67-related meckel syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3436,"name":"Meckel-Gruber syndrome","encodedName":"meckel-gruber-syndrome","synonyms":["dysencephalia splachnocystica"," dysencephalia splanchnocystica"," gruber syndrome"," meckel syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Nephrology","Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Nephrology","Gastroenterology","Orthopedics","Otolaryngology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":10494,"name":"Meconium aspiration syndrome","encodedName":"meconium-aspiration-syndrome","synonyms":["mas"," mas - meconium aspiration syndrome"," meconium aspiration"," neonatal aspiration of meconium"],"tagsDiseaseCategory":["Pulmonology"],"tagsAccount":[],"tagsSpecialist":["Pulmonology","Pediatrics"],"tagsCause":[]},{"id":10910,"name":"Medial condensing osteitis of the clavicle","encodedName":"medial-condensing-osteitis-of-the-clavicle","synonyms":["condensing osteitis of the clavicle"," condensing osteitis of the medial clavicle"," medial condensing osteitis of clavicle"," osteitis condensans of medial clavicle"," osteitis condensans of the clavicle"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Rheumatology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":19966,"name":"Median cleft of the upper lip and maxilla","encodedName":"median-cleft-of-the-upper-lip-and-maxilla","synonyms":["median cleft lip and cleft of alveolar process of maxilla"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Otolaryngology"],"tagsCause":[]},{"id":3440,"name":"Median nodule of the upper lip","encodedName":"median-nodule-of-the-upper-lip","synonyms":["lip, median nodule of upper"," median nodule of upper lip"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":8258,"name":"Mediastinal yolk sac tumor","encodedName":"mediastinal-yolk-sac-tumor","synonyms":["endodermal sinus neoplasm of mediastinum"," endodermal sinus neoplasm of the mediastinum"," endodermal sinus tumor of mediastinum"," endodermal sinus tumor of the mediastinum"," endodermal sinus tumour of mediastinum"," endodermal sinus tumour of the mediastinum"," mediastinal endodermal sinus neoplasm"," mediastinal endodermal sinus tumor"," mediastinal endodermal sinus tumour"," mediastinal yolk sac neoplasm"," mediastinal yolk sac tumour"," mediastinum yolk sac tumor"," mediastinum yolk sac tumour"," yolk sac neoplasm of mediastinum"," yolk sac neoplasm of the mediastinum"," yolk sac tumor of mediastinum"," yolk sac tumor of the mediastinum"," yolk sac tumour of mediastinum"," yolk sac tumour of the mediastinum"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":21598,"name":"Medich giant platelet syndrome","encodedName":"medich-giant-platelet-syndrome","synonyms":["medich macrothrombocytopenia"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":540,"name":"Medium-chain acyl-coenzyme A dehydrogenase deficiency","encodedName":"medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency","synonyms":["acadm (acyl-coa dehydrogenase medium chain) deficiency"," acadm deficiency"," acadm-gene related medium-chain acyl-coenzyme a dehydrogenase deficiency"," acadmd"," acyl-coa dehydrogenase, medium chain, deficiency of"," acyl-coa dehydrogenase, medium-chain deficiency"," carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency"," mcad"," mcad - medium chain acyl-coa dehydrogenase deficiency"," mcad deficiency"," mcadd"," mcadh deficiency"," medium chain acyl-coa dehydrogenase deficiency"," medium chain acyl-coenzyme a dehydrogenase deficiency"," medium-chain acyl-coa dehydrogenase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":17072,"name":"MEDNIK syndrome","encodedName":"mednik-syndrome","synonyms":["erythrokeratodermia variabilis 3"," erythrokeratodermia variabilis kamouraska type"," erythrokeratodermia variabilis, kamouraska type"," intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome"," intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"," intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"," intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome"," mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology","Ichthyosis"],"tagsSpecialist":["Genetics","Neurology","Dermatology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":232,"name":"Medullary sponge kidney","encodedName":"medullary-sponge-kidney","synonyms":["cacchi-ricci disease"," msk"," precalicial canalicular ectasia"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Pediatrics"],"tagsCause":[]},{"id":7004,"name":"Medullary thyroid carcinoma","encodedName":"medullary-thyroid-carcinoma","synonyms":["c cell carcinoma"," c cell neuroendocrine neoplasm"," carcinoma of parafollicular cell"," carcinoma, c-cell, malignant"," medullary carcinoma"," medullary carcinoma of the thyroid"," medullary carcinoma of the thyroid gland"," medullary carcinoma of thyroid"," medullary carcinoma of thyroid gland"," medullary thyroid cancer"," medullary thyroid gland carcinoma"," mtc"," mtc - medullary thyroid carcinoma"," parafollicular cell carcinoma"," thyroid gland medullary cancer"," thyroid gland medullary carcinoma"," thyroid gland neuroendocrine carcinoma"," thyroid medullary carcinoma"," ultimobranchial thyroid tumor"," ultimobranchial thyroid tumour"],"tagsDiseaseCategory":["Cancer","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Endocrine"],"tagsCause":[]},{"id":7005,"name":"Medulloblastoma","encodedName":"medulloblastoma","synonyms":["brain medulloblastoma"," cerebellar medulloblastoma"," cerebellum embryonal neoplasm"," mdb"," mdb - medulloblastoma"," medulloblastoma predisposition syndrome"," medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation"," medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation"," medulloblastoma, malignant"," medulloblastoma, somatic"," medulloblastoma, sufu-related"," medulloblastomas"],"tagsDiseaseCategory":["Cancer","Neurology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Neurology","Pediatrics"],"tagsCause":[]},{"id":9688,"name":"Meesmann corneal dystrophy","encodedName":"meesmann-corneal-dystrophy","synonyms":["juvenile epithelial corneal dystrophy"," juvenile epithelial of meesmann corneal dystrophy"," juvenile hereditary epithelial dystrophy"," juvenile hereditary epithelial dystrophy of meesmann"," mecd"," meesman's corneal dystrophy"," meesman's epithelial corneal dystrophy"," stocker-holt dystrophy"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":10317,"name":"Megaconial type congenital muscular dystrophy","encodedName":"megaconial-type-congenital-muscular-dystrophy","synonyms":["chkb-related muscle diseases"," congenital megaconial myopathy"," congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"," congenital muscular dystrophy with mitochondrial structural abnormalities"," mdcmc"," megaconial congenital muscular dystrophy"," muscular dystrophy, congenital, with mitochondrial structural abnormalities"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3445,"name":"Megalencephalic leukoencephalopathy with subcortical cysts","encodedName":"megalencephalic-leukoencephalopathy-with-subcortical-cysts","synonyms":["infantile leukoencephalopathy and megalencephaly"," leukoencephalopathy with swelling and cysts"," megalencephalic leukodystrophy"," megalencephalic leukoencephalopathy with subcortical cysts type 1"," megalencephaly-cystic leukodystrophy syndrome"," mlc"," vacuolating leukoencephalopathy"," vacuolating megalencephalic leukoencephalopathy with subcortical cysts"," van der knaap disease"," van der knaap syndrome"," van der knapp disease"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":6950,"name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","encodedName":"megalencephaly-capillary-malformation-polymicrogyria-syndrome","synonyms":["m-cm - macrocephaly capillary malformation"," macrocephaly-capillary malformation"," macrocephaly-capillary malformation syndrome"," macrocephaly-capillary malformation syndrome (m-cm, mcap)"," macrocephaly-cutis marmorata telangiectatica congenita"," macrocephaly-cutis marmorata telangiectatica congenita syndrome"," mcap"," mcap - megalencephaly capillary malformation"," mcm"," mcmtc"," megalencephaly capillary malformation"," megalencephaly cutis marmorata telangiectatica congenita"," megalencephaly-capillary malformation"," megalencephaly-capillary malformation (mcap) syndrome"," megalencephaly-capillary malformation syndrome"," megalencephaly-capillary malformation syndrome  (mcap syndrome)"," megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"," megalencephaly-cutis marmorata telangiectatica congenita syndrome"," megalencephaly, capillary malformation, polymicrogyria syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Endocrine","Dermatology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10341,"name":"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","encodedName":"megalencephaly-polymicrogyria-postaxial-polydactyly-hydrocephalus-syndrome","synonyms":["meg-pmg-megacc syndrome"," megalencephaly-polymicrogyria- polydactyly- hydrocephalus (mpph) syndrome"," megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome"," mpph (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome"," mpph syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17805,"name":"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome","encodedName":"megalencephaly-severe-kyphoscoliosis-overgrowth-syndrome","synonyms":["megalencephaly, severe kyphoscoliosis, overgrowth syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9210,"name":"Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness","encodedName":"megaloblastic-anemia-thiamine-responsive-with-diabetes-mellitus-and-sensorineural-deafness","synonyms":["rogers syndrome"," thiamine metabolism dysfunction syndrome 1"," thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)"," thiamine-responsive anaemia syndrome"," thiamine-responsive anemia syndrome"," thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness"," thiamine-responsive megaloblastic anemia syndrome"," thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"," thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss"," thiamine-responsive myelodysplasia"," thmd1"," trma"],"tagsDiseaseCategory":["Genetics","Endocrine","Hematology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Hematology","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":3448,"name":"Megalocornea-intellectual disability syndrome","encodedName":"megalocornea-intellectual-disability-syndrome","synonyms":["megalocornea intellectual disability syndrome"," megalocornea with intellectual disability syndrome"," mmr (megalocornea, mental retardation) syndrome"," mmr syndrome"," neuhauser syndrome"," neuhäuser syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":12199,"name":"MEGF10-related myopathy","encodedName":"megf10-related-myopathy","synonyms":["cmyo10a"," congenital myopathy 10a, severe variant"," early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"," early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome"," emardd"," emardd (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome"," megf10 myopathy"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9178,"name":"MEHMO syndrome","encodedName":"mehmo-syndrome","synonyms":["intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity"," intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome"," intellectual disability, x-linked, syndromic 20"," intellectual disability, x-linked, syndromic 25"," intellectual disability, x-linked, syndromic, borck type"," intellectual disability, x-linked, syndromic, borck type"," mrxsbrk"," mehmo"," mehmo (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome"," mehmo syndrome, x-linked recessive"," mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome"," mrxs20"," mrxs25"," 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dysplasia","encodedName":"metatropic-dysplasia","synonyms":["metatropic dwarf"," metatropic dwarfism"," metatropic dwarfism syndrome"," metatropic dysplasia group"," metatropic dysplasia i"," metatropic dysplasia, nonlethal dominant"," mtd"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":3909,"name":"Methemoglobin reductase deficiency","encodedName":"methemoglobin-reductase-deficiency","synonyms":["nadph-dependent methemoglobin reductase deficiency"," tpnh-methemoglobin reductase deficiency"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3577,"name":"Methylcobalamin deficiency type cblG","encodedName":"methylcobalamin-deficiency-type-cblg","synonyms":["functional methionine synthase deficiency type cblg"," hmag"," homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type"," homocystinuria-megaloblastic anemia, cblg complementation type"," homocystinuria-megaloblastic anemia, cblg type"],"tagsDiseaseCategory":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Hematology","Pediatrics"],"tagsCause":[]},{"id":10954,"name":"Methylcrotonyl-CoA carboxylase deficiency","encodedName":"methylcrotonyl-coa-carboxylase-deficiency","synonyms":["3 methylcrotonylglycinuria"," 3-mcc deficiency"," 3-methylcrotonyl-coa carboxylase deficiency"," 3-methylcrotonylglycinuria"," 3mcc deficiency"," beta-methylcrotonylglycinuria, type 1"," bmcc deficiency"," deficiency of methylcrotonoyl-coa carboxylase"," mcc deficiency"," mccd"," methylcrotonyl-coenzyme a carboxylase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":17322,"name":"Methylmalonate semialdehyde dehydrogenase 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deficiency","encodedName":"methylmalonic-acidemia-due-to-methylmalonyl-coa-epimerase-deficiency","synonyms":["deficiency of methylmalonyl-coa epimerase"," deficiency of methylmalonyl-coa racemase"," deficiency of methylmalonyl-coenzyme a epimerase"," deficiency of methylmalonyl-coenzyme a racemase"," mcee deficiency"," mcee-related methylmalonic acidemia"," methylmalonic acidemia due to methylmalonyl-coa racemase deficiency"," methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency"," methylmalonic aciduria due to methylmalonyl-coa racemase deficiency"," methylmalonic aciduria iii"," methylmalonyl-coa racemase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":16481,"name":"Methylmalonic acidemia due to transcobalamin receptor defect","encodedName":"methylmalonic-acidemia-due-to-transcobalamin-receptor-defect","synonyms":["cd320 methylmalonic acidemia"," matr"," 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Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Hematology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3586,"name":"Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency","encodedName":"methylmalonic-aciduria-due-to-methylmalonyl-coa-mutase-deficiency","synonyms":["mamm"," methylmalonic acidemia due to methylmalonyl-coa mutase deficiency"," methylmalonic aciduria mut type"," methylmalonic aciduria, mut type"," methylmalonyl-coa mutase deficiency"," methylmalonyl-coenzyme a mutase deficiency"," mut-related methylmalonic acidemia"," vitamin b12-unresponsive methylmalonic acidemia"," vitamin b12-unresponsive methylmalonic aciduria"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Inborn Errors of Metabolism"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Neurology","Nephrology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3588,"name":"Mevalonic aciduria","encodedName":"mevalonic-aciduria","synonyms":["complete mevalonate kinase deficiency"," hids"," hyperimmunoglobulin d with periodic fever syndrome"," meva"," mevalonicaciduria"," mkd"," mva"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Rheumatology","Dermatology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9828,"name":"MGAT2-congenital disorder of glycosylation","encodedName":"mgat2-congenital-disorder-of-glycosylation","synonyms":["alkuraya syndrome"," carbohydrate deficient glycoprotein syndrome type 2a"," carbohydrate deficient glycoprotein syndrome type iia"," carbohydrate-deficient glycoprotein syndrome type ii"," cdg - carbohydrate-deficient glycoprotein syndrome type ii"," cdg iia"," cdg syndrome type iia"," cdg-iia"," cdg2a"," congenital disorder of glycosylation type 2a"," congenital disorder of glycosylation type iia"," congenital disorder of glycosylation, type iia"," mgat2-cdg"," mgat2-cdg - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation"," mgat2-cdg (cdg-iia)"," n-acetylglucosaminyl transferase ii deficiency"," n-acetylglucosaminyltransferase 2 deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9548,"name":"MHC class I deficiency","encodedName":"mhc-class-i-deficiency","synonyms":["bare lymphocyte syndrome type 1"," bare lymphocyte syndrome type i"," bls, type i"," blsi"," hla class i deficiency"," immunodeficiency by defective expression of hla (human leukocyte antigen) class 1"," immunodeficiency by defective expression of hla class 1"," immunodeficiency by defective expression of hla class type 1"," immunodeficiency by defective expression of human leukocyte antigen class 1"," immunodeficiency by defective expression of human leukocyte antigen class i"," immunodeficiency by defective expression of major histocompatibility complex class i"," immunodeficiency by defective expression of mhc class i"," major histocompatibility complex class i deficiency"," mhc (major histocompatibility complex) class i deficiency"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Pediatrics"],"tagsCause":[]},{"id":824,"name":"MHC class II deficiency","encodedName":"mhc-class-ii-deficiency","synonyms":["bare lymphocyte syndrome"," bare lymphocyte syndrome 2"," bare lymphocyte syndrome type 2"," bare lymphocyte syndrome, type ii, complementation group a"," bls 2"," bls, type ii"," hla class 2-negative scid"," hla class 2-negative severe combined immunodeficiency"," immunodeficiency by defective expression of hla class type 2"," immunodeficiency by defective expression of mhc class ii"," major histocompatibility complex class ii expression deficiency"," mhc class ii expression deficiency"," scid due to absent class ii hla antigens"," scid, hla class 2-negative"," scid, hla class ii-negative"," severe combined immunodeficiency, hla class ii negative"],"tagsDiseaseCategory":["Genetics","Gastroenterology"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":3589,"name":"Michelin-tire baby","encodedName":"michelin-tire-baby","spanishId":13642,"spanishName":"pliegues-circulares-de-la-piel-tipo-kunze","synonyms":["ccsf"," circumferential skin creases, kunze type"," congenital circumferential skin folds"," cscsc"," kunze-riehm syndrome"," lipomatous hypertrophy"," michelin tire baby syndrome"," multiple benign circumferential skin creases on limbs"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17855,"name":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant","encodedName":"microangiopathy-and-leukoencephalopathy-pontine-autosomal-dominant","synonyms":["dementia, hereditary multi-infarct, swedish type"," padmal"," padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy"," pontine autosomal dominant microangiopathy with leukoencephalopathy"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine"],"tagsCause":[]},{"id":3596,"name":"Microbrachycephaly-ptosis-cleft lip syndrome","encodedName":"microbrachycephaly-ptosis-cleft-lip-syndrome","synonyms":["richieri costa-guion almeida-ramos syndrome"," richieri-costa/guion-almeida syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16736,"name":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type","encodedName":"microcephalic-osteodysplastic-dysplasia-saul-wilson-type","synonyms":["microcephalic osteodysplastic dysplasia"," microcephalic osteodysplastic dysplasia saul wilson type"," saul-wilson syndrome"," swils"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9844,"name":"Microcephalic osteodysplastic primordial dwarfism type II","encodedName":"microcephalic-osteodysplastic-primordial-dwarfism-type-ii","synonyms":["majewski osteodysplastic primordial dwarfism type ii"," microcephalic osteodysplastic primordial dwarfism with tooth abnormalities"," mopd (microcephalic osteodysplastic primordial dwarfism) type ii"," mopd ii"," mopd type ii"," mopd2"," osteodysplastic primordial dwarfism type ii"," osteodysplastic primordial dwarfism, type ii"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":5120,"name":"Microcephalic osteodysplastic primordial dwarfism types I and III","encodedName":"microcephalic-osteodysplastic-primordial-dwarfism-types-i-and-iii","synonyms":["microcephalic osteodysplastic primordial dwarfism taybi linder type"," microcephalic osteodysplastic primordial dwarfism, taybi-linder type"," mopd types i and iii"," primordial microcephalic dwarfism crachami type"," primordial microcephalic dwarfism, crachami type"," taybi linder syndrome"," taybi-linder syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Glaucoma"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17841,"name":"Microcephalic primordial dwarfism due to RTTN deficiency","encodedName":"microcephalic-primordial-dwarfism-due-to-rttn-deficiency","synonyms":["microcephalic cortical malformations-short stature due to rttn deficiency"," microcephalic cortical malformations, short stature due to rotatin deficiency"," microcephalic cortical malformations, short stature due to rttn (rotatin) deficiency"," microcephalic cortical malformations, short stature due to rttn deficiency"," microcephaly, short stature, and polymicrogyria"," microcephaly, short stature, and polymicrogyria with or without seizures"," mssp"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17498,"name":"Microcephalic primordial dwarfism due to ZNF335 deficiency","encodedName":"microcephalic-primordial-dwarfism-due-to-znf335-deficiency","synonyms":["microcephalic primordial dwarfism, walsh type"," primary autosomal recessive microcephaly 10"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17468,"name":"Microcephalic primordial dwarfism, Alazami type","encodedName":"microcephalic-primordial-dwarfism-alazami-type","synonyms":["alazami syndrome"," facial dysmorphism, intellectual disability, and primordial dwarfism"," microcephalic primordial dwarfism alazami type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3602,"name":"Microcephalic primordial dwarfism, Toriello type","encodedName":"microcephalic-primordial-dwarfism-toriello-type","synonyms":["microcephalic primordial dwarfism and cataracts"," microcephalic primordial dwarfism of toriello type"," microcephalic primordial dwarfism toriello type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3609,"name":"Microcephalus cardiomyopathy syndrome","encodedName":"microcephalus-cardiomyopathy-syndrome","synonyms":["microcephaly cardiomyopathy"," microcephaly cardiomyopathy syndrome"," microcephaly with cardiomyopathy"," microcephaly-cardiomyopathy syndrome"," severe microcephaly and self-limiting dilated cardiomyopathy"," winship viljoen leary syndrome"," winship-viljoen-leary syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":15366,"name":"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations","encodedName":"microcephaly-2-primary-autosomal-recessive-with-or-without-cortical-malformations","synonyms":["microcephaly 2, primary, autosomal recessive, with cortical malformations"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Neurodevelopmental disabilities"],"tagsCause":[]},{"id":15441,"name":"Microcephaly 5, primary, autosomal recessive","encodedName":"microcephaly-5-primary-autosomal-recessive","synonyms":["aspm autosomal recessive primary microcephaly"," autosomal recessive primary microcephaly caused by mutation in aspm"," mcph5"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Neurodevelopmental disabilities"],"tagsCause":[]},{"id":3611,"name":"Microcephaly and chorioretinopathy","encodedName":"microcephaly-and-chorioretinopathy","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Neurodevelopmental disabilities"],"tagsCause":[]},{"id":3628,"name":"Microcephaly micropenis convulsions","encodedName":"microcephaly-micropenis-convulsions","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Epilepsy","Neuro-Ophthalmology"],"tagsCause":[]},{"id":3622,"name":"Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability","encodedName":"microcephaly-with-or-without-chorioretinopathy-lymphedema-or-intellectual-disability","synonyms":["kif11-associated disorder"," lymphedema and retinal folds with ficrocephaly and microphthalmos"," lymphedema, microcephaly and chorioretinopathy syndrome"," lymphedema, microcephaly, chorioretinopathy syndrome"," microcephaly lymphedema chorioretinal dysplasia"," microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"," microcephaly-lymphedema-chorioretinopathy syndrome"," microcephaly, lymphedema, chorioretinal dysplasia syndrome"," mlcrd"," mlcrd syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Retinal","Vascular Neurology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3604,"name":"Microcephaly-albinism-digital anomalies syndrome","encodedName":"microcephaly-albinism-digital-anomalies-syndrome","synonyms":["castro gago pombo novo syndrome"," castro gago-pombo-novo syndrome"," microcephalus with albinism and digital anomaly syndrome"," microcephaly with albinism and digital anomaly syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":5490,"name":"Microcephaly-brachydactyly-kyphoscoliosis syndrome","encodedName":"microcephaly-brachydactyly-kyphoscoliosis-syndrome","synonyms":["microcephalus with brachydactyly and kyphoscoliosis syndrome"," microcephaly with brachydactyly and kyphoscoliosis syndrome"," viljoen kallis voges syndrome"," viljoen-kallis-voges syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3607,"name":"Microcephaly-brain defect-spasticity-hypernatremia syndrome","encodedName":"microcephaly-brain-defect-spasticity-hypernatremia-syndrome","synonyms":["franek bocker kahlen syndrome"," franek-bocker-kahlen syndrome"," microcephalus, brain defect, spasticity, hypernatremia syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17354,"name":"Microcephaly-capillary malformation syndrome","encodedName":"microcephaly-capillary-malformation-syndrome","synonyms":["mic-cap syndrome"," mic-cm syndrome"," miccap"," microcephaly-cutaneous capillary malformation syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":2098,"name":"Microcephaly-cardiac defect-lung malsegmentation syndrome","encodedName":"microcephaly-cardiac-defect-lung-malsegmentation-syndrome","synonyms":["ellis yale winter syndrome"," ellis-yale-winter syndrome"," microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis"," microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Pediatrics"],"tagsCause":[]},{"id":17502,"name":"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome","encodedName":"microcephaly-cerebellar-hypoplasia-cardiac-conduction-defect-syndrome","synonyms":["microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome"," microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"," microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome"," microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome"," zaki gleeson syndrome"," zaki-gleeson syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3610,"name":"Microcephaly-cervical spine fusion anomalies syndrome","encodedName":"microcephaly-cervical-spine-fusion-anomalies-syndrome","synonyms":["microcephalus co-occurrent with cervical spine fusion anomaly"," microcephaly with cervical spine fusion anomalies"," microcephaly with cervical spine fusion anomaly"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":8623,"name":"Microcephaly-cleft palate syndrome","encodedName":"microcephaly-cleft-palate-syndrome","synonyms":["halal syndrome"," microcephalus cleft palate syndrome"," microcephaly cleft palate syndrome"," microcephaly-cleft palate-abnormal retinal pigmentation syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":21762,"name":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","encodedName":"microcephaly-complex-motor-and-sensory-axonal-neuropathy-syndrome","synonyms":["microcephalus, complex motor and sensory axonal neuropathy syndrome"," microcephaly, complex motor and sensory axonal neuropathy syndrome"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":17886,"name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","encodedName":"microcephaly-congenital-cataract-psoriasiform-dermatitis-syndrome","synonyms":["mccpd"," microcephaly, congenital cataract, and psoriasiform dermatitis"," microcephaly, congenital cataract, psoriasiform dermatitis syndrome"," sc4mol deficiency"," smo (sterol-c4-methyl oxidase) deficiency"," smo deficiency"," sterol-c4-methyl oxidase deficiency"],"tagsDiseaseCategory":["Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":230,"name":"Microcephaly-deafness-intellectual disability syndrome","encodedName":"microcephaly-deafness-intellectual-disability-syndrome","synonyms":["kawashima tsuji syndrome"," kawashima-tsuji syndrome"," microcephaly with deafness and intellectual disability syndrome"," microcephaly-hearing loss-intellectual disability syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17116,"name":"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","encodedName":"microcephaly-facio-cardio-skeletal-syndrome-hadziselimovic-type","synonyms":["hadziselimovic syndrome"," microcephalus facio-cardio-skeletal syndrome hadziselimovic type"," microcephaly faciocardioskeletal syndrome"," microcephaly-faciocardioskeletal syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":3615,"name":"Microcephaly-glomerulonephritis-marfanoid habitus syndrome","encodedName":"microcephaly-glomerulonephritis-marfanoid-habitus-syndrome","synonyms":["marfanoid habitus with microcephaly and glomerulonephritis"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17804,"name":"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","encodedName":"microcephaly-intellectual-disability-sensorineural-hearing-loss-epilepsy-abnormal-muscle-tone-syndrome","synonyms":["microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome"," microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome"," microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome"," nedhsb"," neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3627,"name":"Microcephaly-microcornea syndrome, Seemanova type","encodedName":"microcephaly-microcornea-syndrome-seemanova-type","synonyms":["microcephalus microcornea syndrome of seemanova 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normal intelligence immunodeficiency and lymphoreticular malignancies"," microcephaly-immunodeficiency-lymphoid malignancy syndrome"," microcephaly-immunodeficiency-lymphoreticuloma syndrome"," nbs"," nbs - nijmegen breakage syndrome"," nijmegen breakage syndrome"," nonsyndromal microcephaly autosomal recessive with normal intelligence"," seemanova syndrome"," seemanova syndrome 2"," seemanova syndrome ii"," seemanova syndrome type 2"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Immunology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10933,"name":"Microcephaly, seizures, and developmental delay","encodedName":"microcephaly-seizures-and-developmental-delay","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Epilepsy","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":3637,"name":"Microcornea-glaucoma-absent frontal sinuses syndrome","encodedName":"microcornea-glaucoma-absent-frontal-sinuses-syndrome","synonyms":[""],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Glaucoma"],"tagsSpecialist":["Genetics","Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":17593,"name":"Microcornea-myopic chorioretinal atrophy","encodedName":"microcornea-myopic-chorioretinal-atrophy","synonyms":["microcornea-myopic chorioretinal atrophy-telecanthus syndrome"," microcornea, myopic chorioretinal atrophy, and telecanthus"," mmcat syndrome"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"tagsCause":[]},{"id":10938,"name":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","encodedName":"microcornea-posterior-megalolenticonus-persistent-fetal-vasculature-coloboma-syndrome","synonyms":["microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome"," mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome"," mppc syndrome"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Ophthalmology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":10438,"name":"Microcystic adnexal carcinoma","encodedName":"microcystic-adnexal-carcinoma","synonyms":["eccrine epithelioma"," eccrine epithelioma of skin"," malignant syringoma"," microcystic adnexal carcinoma of skin"," sclerosing sweat duct carcinoma"," syringoid eccrine carcinoma"," syringoma, malignant"," syringomatous carcinoma"," syringomatous sweat duct carcinoma"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":13020,"name":"Microcystic lymphatic malformation","encodedName":"microcystic-lymphatic-malformation","synonyms":["capillary lymphatic malformation"," cutaneous lymphangioma circumscriptum"," microcystic infiltrating lymphatic malformation"," microcystic lymphangioma"," superficial lymphangioma"," superficial lymphatic malformation"],"tagsDiseaseCategory":["Cancer","Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Otolaryngology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":12360,"name":"Microcytic anemia with liver iron overload","encodedName":"microcytic-anemia-with-liver-iron-overload","synonyms":["anemia, hypochromic microcytic, with iron overload 1"," anemia, hypochromic microcytic, with iron overload type 1"],"tagsDiseaseCategory":["Genetics","Hematology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":3638,"name":"Microdontia hypodontia short 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Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17850,"name":"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","encodedName":"micrognathia-recurrent-infections-behavioral-abnormalities-mild-intellectual-disability-syndrome","synonyms":["autosomal dominant intellectual disability 44"," intellectual developmental disorder, autosomal dominant 44, with microcephaly"," mebas"," mercer-ba syndrome"," mrd44"," trio-related intellectual disability"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16555,"name":"Microlissencephaly","encodedName":"microlissencephaly","synonyms":["lissencephaly type iii"," micro-lissencephaly"," type 3 lissencephaly"," type iii lissencephaly"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":18840,"name":"Microlissencephaly-micromelia syndrome","encodedName":"microlissencephaly-micromelia-syndrome","synonyms":["basel vanagaite sirota syndrome"," basel-vanagaite-sirota syndrome"," microlissencephaly micromelia syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3650,"name":"Microphthalmia microtia fetal akinesia","encodedName":"microphthalmia-microtia-fetal-akinesia","synonyms":["microphthalmia-microtia-fetal akinesia syndrome"," microphthalmia, microtia, fetal akinesia syndrome"," thomas jewett raines syndrome"," thomas-jewett-raines syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":3645,"name":"Microphthalmia with brain and digit anomalies","encodedName":"microphthalmia-with-brain-and-digit-anomalies","synonyms":["bakrania ragge syndrome"," bakrania-ragge syndrome"," mcops6"," microphthalmia and pituitary anomalies"," microphthalmia with brain and digit anomaly"," microphthalmia, syndromic 6"," microphthalmia, syndromic type 6"," syndromic microphthalmia type 6"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":722,"name":"Microphthalmia with limb anomalies","encodedName":"microphthalmia-with-limb-anomalies","synonyms":["anophthalmia-syndactyly"," anophthalmia-syndactyly syndrome"," anophthalmia-waardenburg syndrome"," anophthalmos with limb anomalies"," anophthalmos-limb anomalies syndrome"," microphthalmia and limb anomalies"," mla"," oas"," ophthalmo-acromelic syndrome"," ophthalmoacromelic syndrome"," syndactyly-anophthalmos syndrome"," waardenburg anophthalmia syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9292,"name":"Microphthalmia-brain atrophy syndrome","encodedName":"microphthalmia-brain-atrophy-syndrome","synonyms":["mcops10"," microphthalmia and brain atrophy"," microphthalmia with brain atrophy syndrome"," moba syndrome"," syndromic microphthalmia type 10"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9610,"name":"Microphthalmia, isolated, with cataract 1","encodedName":"microphthalmia-isolated-with-cataract-1","synonyms":["mcopct1"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3644,"name":"Microphthalmia, isolated, with coloboma","encodedName":"microphthalmia-isolated-with-coloboma","synonyms":["colobomatous microphthalmia"," mac"," microphthalmia with colobomatous cyst"," microphthalmia-anophthalmia-coloboma syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":13235,"name":"Microphthalmia, syndromic 12","encodedName":"microphthalmia-syndromic-12","synonyms":["mcops12"," microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects"," microphthalmia, syndromic type 12"," rarb syndromic microphthalmia"," syndromic microphthalmia caused by mutation in rarb"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3652,"name":"Microscopic polyangiitis","encodedName":"microscopic-polyangiitis","synonyms":["micropolyangiitis"," microscopic polyarteritis"," mpa"," mpa - microscopic polyangiitis"],"tagsDiseaseCategory":["Pulmonology","Neurology","Nephrology"],"tagsAccount":["Nephrology","Peripheral Neuropathy"],"tagsSpecialist":["Pulmonology","Neurology","Rheumatology","Nephrology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":5481,"name":"Microspherophakia-metaphyseal dysplasia syndrome","encodedName":"microspherophakia-metaphyseal-dysplasia-syndrome","synonyms":["microspherophakia-metaphyseal dysplasia"," verloes-van maldergem-de marneffe syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":3655,"name":"Microsporidiosis","encodedName":"microsporidiosis","synonyms":["infection by microspora"," infection by microsporea"," infection by microsporida"," infection by microsporidia"," infection caused by microspora"," infection caused by microsporidia"," microsporidia caused disease or disorder"," microsporidia disease or disorder"," microsporidia infection"," microsporidia infectious disease"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":431,"name":"Microtia-Anotia","encodedName":"microtia-anotia","synonyms":["congenital microtias"," m-a"," microtia"," microtia, congenital"," microtias, congenital"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":10300,"name":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","encodedName":"microtia-eye-coloboma-imperforation-of-the-nasolacrimal-duct-syndrome","synonyms":["balikova-vermeesch syndrome"," microtia with nasolacrimal duct imperforation and eye coloboma"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye"],"tagsCause":[]},{"id":21142,"name":"Microtriplication 11q24.1","encodedName":"microtriplication-11q241","synonyms":["tetrasomy 11q24.1"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":19971,"name":"Midline cervical cleft","encodedName":"midline-cervical-cleft","synonyms":["midline brainstem cleft"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Otolaryngology"],"tagsCause":[]},{"id":18756,"name":"Midline cleft of lower lip","encodedName":"midline-cleft-of-lower-lip","synonyms":["median cleft lip/mandibule"," median cleft lower facial stage"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":3524,"name":"Mietens syndrome","encodedName":"mietens-syndrome","synonyms":["intellectual disability, mietens-weber type"," mietens-weber syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3617,"name":"Mikati-Najjar-Sahli syndrome","encodedName":"mikati-najjar-sahli-syndrome","synonyms":["microcephalus, hypergonadotropic hypogonadism, short stature syndrome"," microcephaly-hypergonadotropic hypogonadism-short stature syndrome"," mikati najjar sahli syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":["Infertility"],"tagsSpecialist":["Genetics","Endocrine","Urologist","Pediatrics"],"tagsCause":[]},{"id":10324,"name":"Mild phenylketonuria","encodedName":"mild-phenylketonuria","synonyms":["mild pku"," mpku"," variant phenylketonuria"," variant pku"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3669,"name":"Miller Dieker syndrome","encodedName":"miller-dieker-syndrome","synonyms":["lissencephaly due to 17p13.3 deletion"," lissencephaly syndrome, miller-dieker"," mdls"," miller-dieker lissencephaly syndrome"," miller-dieker syndrome"," monosomy 17p13.3"," telomeric deletion 17p"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3668,"name":"Miller Fisher syndrome","encodedName":"miller-fisher-syndrome","synonyms":["cranial variant of gbs"," cranial variant of guillain-barre syndrome"," cranial variant of guillain-barré syndrome"," fisher syndrome"," fisher's syndrome"," guillain barre syndrome, miller fisher variant"," guillain-barre syndrome, miller fisher variant"," miller fisher variant of guillain barre syndrome"," miller-fisher syndrome"," miller-fisher variant of guillain-barre syndrome"," ophthalmoplegia, ataxia and areflexia syndrome"," ophthalmoplegia, ataxia, areflexia syndrome"," syndrome, fisher"," syndrome, miller fisher"," syndrome, miller-fisher"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Neurology","Pediatrics"],"tagsCause":[]},{"id":8410,"name":"Miller syndrome","encodedName":"miller-syndrome","synonyms":["acrofacial dysostosis, genee-wiedemann type"," acrofacial dysostosis, genee-wiedmann type"," genee-wiedemann acrofacial dysostosis"," genee-wiedemann syndrome"," mandibulfacial dysostosis with postaxial limb anomalies"," mandibulofacial dysostosis with postaxial limb anomalies"," poads"," postaxial acrodysostosis"," postaxial acrofacial dysostosis"," postaxial acrofacial dysostosis syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Ophthalmology","Orthopedics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":13108,"name":"MIRAGE syndrome","encodedName":"mirage-syndrome","synonyms":["mirage"," mirage (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome"," myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome"," myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"," myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome"," myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy"," myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Urologist","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10177,"name":"Mirizzi syndrome","encodedName":"mirizzi-syndrome","synonyms":["extrinsic biliary compression syndrome"," mirizzi's syndrome"],"tagsDiseaseCategory":["Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Gastroenterology"],"tagsCause":[]},{"id":18784,"name":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","encodedName":"mirror-polydactyly-vertebral-segmentation-limbs-defects-syndrome","synonyms":["mirror polydactyly, vertebral segmentation and limb defect syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":420,"name":"Mismatch repair cancer syndrome 1","encodedName":"mismatch-repair-cancer-syndrome-1","synonyms":["brain tumor-polyposis syndrome 1"," btp1 syndrome"," childhood cancer syndrome"," mismatch repair deficiency"," mlh1-related constitutional mismatch repair deficiency syndrome"," mmr deficiency"," mmrcs1"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":3908,"name":"Mitochondrial complex I deficiency","encodedName":"mitochondrial-complex-i-deficiency","synonyms":["complex 1 mitochondrial respiratory chain deficiency"," complex i deficiency"," isolated complex i deficiency"," isolated mitochondrial respiratory chain complex i deficiency"," isolated nadh-coenzyme q reductase deficiency"," isolated nadh-coq reductase deficiency"," isolated nadh-ubiquinone reductase deficiency"," mitochondrial respiratory chain complex i deficiency"," nadh - nicotinamide adenine dinucleotide coenzyme q reductase deficiency"," nadh coenzyme q reductase deficiency"," nadh:q(1) oxidoreductase deficiency"," nicotinamide adenine dinucleotide coenzyme q reductase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":5053,"name":"Mitochondrial complex II deficiency, nuclear type 1","encodedName":"mitochondrial-complex-ii-deficiency-nuclear-type-1","synonyms":["isolated mitochondrial respiratory chain complex ii deficiency"," isolated succinate dehydrogenase deficiency"," isolated succinate-coenzyme q reductase deficiency"," isolated succinate-coq reductase deficiency"," isolated succinate-ubiquinone reductase deficiency"," mitochondrial complex ii deficiency"," mitochondrial respiratory chain complex ii deficiency"," mitochondrial respiratory chain complex ii deficiency, sdha-related"," mitochondrial respiratory chain complex ii deficiency, sdhaf1-related"," succinate coq reductase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":8295,"name":"Mitochondrial complex III deficiency","encodedName":"mitochondrial-complex-iii-deficiency","synonyms":["deficiency of isolated coq cytochrome c reductase"," deficiency of mitochondrial complex iii"," deficiency of ubiquinone cytochrome c oxidoreductase"," isolated coenzyme q-cytochrome c reductase deficiency"," isolated complex iii deficiency"," isolated coq-cytochrome c reductase deficiency"," isolated mitochondrial respiratory chain complex iii deficiency"," isolated ubiquinone-cytochrome c reductase deficiency"," mc3dn1"," mitochondrial respiratory chain complex iii deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":48,"name":"Mitochondrial complex IV deficiency, nuclear-type","encodedName":"mitochondrial-complex-iv-deficiency-nuclear-type","synonyms":["cytochrome c oxidase deficiency"," cytochrome-c oxidase deficiency"," cytochrome-c oxidase deficiency disease"," isolated cox (cytochrome c oxidase) deficiency"," isolated cox deficiency"," isolated cytochrome c oxidase deficiency"," isolated mitochondrial respiratory chain complex iv deficiency"," mitochondrial complex 4 deficiency"," mitochondrial complex iv deficiency"," mitochondrial respiratory complex iv deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":16561,"name":"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2","encodedName":"mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2","synonyms":["encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency"," mc5dn2"," mitochondrial complex v (atp synthase) deficiency, tmem70 type"," mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency"," mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency"," mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency"," neonatal mitochondrial encephalocardiomyopathy due to atp synthase deficiency"," nuclear-encoded atpase deficiency, tmem70-related"," tmem70-related mitochondrial encephalo-cardio-myopathy"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17518,"name":"Mitochondrial DNA deletion syndrome with progressive myopathy","encodedName":"mitochondrial-dna-deletion-syndrome-with-progressive-myopathy","synonyms":["dna2-related mitochondrial dna deletion syndrome"," mitochondrial dna deletion syndrome with limb-girdle weakness"," mtdna deletion syndrome with limb-girdle weakness"," mtdna deletion syndrome with progressive myopathy"," progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6"," progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6"," progressive external ophthalmoplegia, autosomal dominant 6"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":13643,"name":"Mitochondrial DNA depletion syndrome","encodedName":"mitochondrial-dna-depletion-syndrome","synonyms":["depletion of mitochondrial deoxyribonucleic acid"," depletion of mitochondrial dna"," mitochondrial dna depletion"," mtdna depletion syndrome"],"tagsDiseaseCategory":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":17517,"name":"Mitochondrial DNA depletion syndrome 11","encodedName":"mitochondrial-dna-depletion-syndrome-11","synonyms":["mgme1 mitochondrial dna depletion syndrome"," mitochondrial dna depletion syndrome caused by mutation in mgme1"," mitochondrial dna depletion syndrome type 11"," mitochondrial dna maintenance syndrome due to mgme1 deficiency"," mtdna maintenance syndrome due to mgme1 deficiency"," mtdps11"," peo-myopathy-emaciation syndrome"," progressive external ophthalmoplegia-myopathy-emaciation syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":13298,"name":"Mitochondrial DNA depletion syndrome 13","encodedName":"mitochondrial-dna-depletion-syndrome-13","synonyms":["f-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form"," fbxl4 (f-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy"," fbxl4 mitochondrial dna depletion syndrome"," fbxl4-related early onset mitochondrial encephalopathy"," fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome"," mitochondrial dna depletion syndrome 13 (encephalomyopathic type)"," mitochondrial dna depletion syndrome 13 encephalomyopathic type"," mitochondrial dna depletion syndrome caused by mutation in fbxl4"," mitochondrial dna depletion syndrome type 13"," mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"," mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":13644,"name":"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","encodedName":"mitochondrial-dna-depletion-syndrome-3-hepatocerebral-type","synonyms":["dguok mitochondrial dna depletion syndrome"," dguok-related mitochondrial dna depletion syndrome, hepatocerebral form"," mitochondrial dna depletion syndrome 3"," mitochondrial dna depletion syndrome caused by mutation in dguok"," mitochondrial dna depletion syndrome type 3"],"tagsDiseaseCategory":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":3972,"name":"Mitochondrial DNA depletion syndrome 6 (hepatocerebral 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Metabolism","Mitochondrial"],"tagsAccount":["Nephrology","Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":17228,"name":"Mitochondrial DNA depletion syndrome, myopathic form","encodedName":"mitochondrial-dna-depletion-syndrome-myopathic-form","synonyms":["mitochondrial dna depletion myopathy, tk2-related"," mitochondrial dna depletion syndrome 2 (myopathic type)"," mitochondrial dna depletion syndrome 2 myopathic type"," mitochondrial dna depletion syndrome type 2"," mtdna depletion syndrome, myopathic form"," mtdps2"," tk2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form"," tk2-related mitochondrial dna depletion myopathy"," tk2-related mitochondrial dna depletion syndrome myopathic form"," tk2-related mitochondrial dna depletion syndrome, myopathic form"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17428,"name":"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","encodedName":"mitochondrial-hypertrophic-cardiomyopathy-with-lactic-acidosis-due-to-mto1-deficiency","synonyms":["cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis"," combined oxidative phosphorylation defect type 10"," combined oxidative phosphorylation deficiency 10"," combined oxidative phosphorylation deficiency caused by mutation in mto1"," combined oxidative phosphorylation deficiency type 10"," coxpd10"," coxpd10 - combined oxidative phosphorylation defect type 10"," mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency"," mto1 combined oxidative phosphorylation deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Pediatrics"],"tagsCause":[]},{"id":3881,"name":"Mitochondrial myopathy with diabetes","encodedName":"mitochondrial-myopathy-with-diabetes","synonyms":["mitochondrial myopathy, lipid type"," myopathy and diabetes mellitus"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Endocrine","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17227,"name":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","encodedName":"mitochondrial-myopathy-with-reversible-cytochrome-c-oxidase-deficiency","synonyms":["benign cox deficiency"," cox deficiency myopathy, infantile, transient"," infantile reversible cytochrome c oxidase deficiency myopathy"," mitochondrial 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syndrome"," myopathy, mitochondrial, and ataxia"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Ataxia"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3682,"name":"Mitochondrial myopathy-lactic acidosis-deafness syndrome","encodedName":"mitochondrial-myopathy-lactic-acidosis-deafness-syndrome","synonyms":["mitochondrial myopathy with lactic acidosis"," mitochondrial myopathy-lactic acidosis-hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Neurology","Otolaryngology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9920,"name":"Mitochondrial neurogastrointestinal 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deficiency","encodedName":"mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency","synonyms":["pxmd-echs1"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":3684,"name":"Mitochondrial trifunctional protein deficiency","encodedName":"mitochondrial-trifunctional-protein-deficiency","synonyms":["human trifunctional protein deficiency"," tfp deficiency"," tfpd"," trifunctional enzyme deficiency"," trifunctional protein deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3685,"name":"Mitral atresia disorder","encodedName":"mitral-atresia-disorder","synonyms":["congenital atresia of mitral valve"," congenital mitral valve atresia"," ma - mitral atresia"," mitral atresia"," mitral valve atresia"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Cardiology","Congenital Heart Disease"],"tagsCause":[]},{"id":7051,"name":"Mixed connective tissue disease","encodedName":"mixed-connective-tissue-disease","synonyms":["connective tissue disease overlap syndrome"," mctd"," mctd - mixed connective tissue disease"," mixed collagen vascular disease"," sharp syndrome"," sharp's syndrome"],"tagsDiseaseCategory":["Pulmonology","Neurology","Nephrology"],"tagsAccount":["Nephrology","Peripheral Neuropathy"],"tagsSpecialist":["Pulmonology","Neurology","Rheumatology","Nephrology","Pediatrics"],"tagsCause":[]},{"id":8374,"name":"Mixed dust pneumoconiosis","encodedName":"mixed-dust-pneumoconiosis","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":2539,"name":"Mixed gonadal dysgenesis","encodedName":"mixed-gonadal-dysgenesis","synonyms":["45, x/46, xy mosaicism"," mosaicism 45, x"," 46, xy"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":21439,"name":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","encodedName":"mixed-sclerosing-bone-dystrophy-with-extra-skeletal-manifestations","synonyms":["mixed sclerosing bone dystrophy with extra-skeletal manifestation"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17653,"name":"Miyoshi muscular dystrophy 3","encodedName":"miyoshi-muscular-dystrophy-3","synonyms":["distal anoctaminopathy"," miyoshi muscular dystrophy type 3"," miyoshi myopathy 3"," mmd3"," mmd3 - miyoshi muscular dystrophy type 3"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9676,"name":"Miyoshi myopathy","encodedName":"miyoshi-myopathy","spanishId":13576,"spanishName":"miopatia-de-miyoshi","synonyms":["miyoshi distal myopathy"," miyoshi muscular dystrophy"," mm"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":17916,"name":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","encodedName":"mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2","synonyms":["membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2"," mme-related autosomal dominant cmt2"," mme-related autosomal dominant hereditary motor and sensory neuropathy type 2"],"tagsDiseaseCategory":["Cancer","Genetics","Neurology","Dermatology"],"tagsAccount":["Dermatology","Peripheral Neuropathy"],"tagsSpecialist":["Cancer - 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type"," moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine","Urogenital Disorders"],"tagsAccount":["Infertility","Pituitary deficiency"],"tagsSpecialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":10767,"name":"MOGS-congenital disorder of glycosylation","encodedName":"mogs-congenital-disorder-of-glycosylation","synonyms":["carbohydrate deficient glycoprotein syndrome type iib"," cdg 2b"," cdg iib"," cdg syndrome type iib"," cdg-iib"," cdg2b"," congenital disorder of glycosylation type 2b"," congenital disorder of glycosylation type iib"," glucosidase 1 deficiency"," glucosidase i deficiency"," mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation"," mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation"," mogs-cdg"," mogs-cdg (cdg-iib)"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"tagsAccount":["Primary Immune Deficiencies","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Immunology","Gastroenterology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":3701,"name":"Mohr syndrome","encodedName":"mohr-syndrome","synonyms":["ofd ii - orofacial-digital syndrome ii"," ofd syndrome type ii"," ofd2"," ofds ii"," oral-facial-digital syndrome type 2"," oral-facial-digital syndrome, type ii"," orofacial-digital syndrome ii"," orofaciodigital syndrome ii"," orofaciodigital syndrome type 2"," orofaciodigital syndrome type ii"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":178,"name":"MOMO syndrome","encodedName":"momo-syndrome","synonyms":["macrocephaly-obesity-mental disability-ocular abnormalities syndrome"," macrocephaly, obesity, mental disability, ocular abnormality syndrome"," macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"," macrosomia, obesity, macrocephaly, and ocular abnormalities"," momo (macrocephaly, obesity, mental disability, ocular abnormality) syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":93,"name":"Monilethrix","encodedName":"monilethrix","synonyms":["beaded hair"," congenital beaded hair"," moniliform hair syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":7034,"name":"Monoclonal gammopathy of undetermined significance","encodedName":"monoclonal-gammopathy-of-undetermined-significance","spanishId":12572,"spanishName":"gamapatia-monoclonal-de-significado-incierto","synonyms":["asymptomatic monoclonal gammopathy"," benign monoclonal gammopathy"," mgus"," mgus - monoclonal gammopathy of uncertain significance"," mgus - monoclonal gammopathy of undetermined significance"," monoclonal gammopathy of uncertain significance"," monoclonal gammopathy of undetermined significance (mgus)"," monoclonal gammopathy of undetermined significance (morphologic abnormality)"," monoclonal gammopathy of unknown significance"," monoclonal gammopathy, benign"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":12980,"name":"Monoclonal mast cell activation syndrome","encodedName":"monoclonal-mast-cell-activation-syndrome","synonyms":["monoclonal mcad"," monoclonal mcad (mast cell activation disorder)"," primary mast cell activation syndrome"," primary mcas"],"tagsDiseaseCategory":["Cancer","Hematology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Hematology","Pediatrics"],"tagsCause":[]},{"id":10934,"name":"Monocytopenia with susceptibility to infections","encodedName":"monocytopenia-with-susceptibility-to-infections","spanishId":12345,"spanishName":"sindrome-de-monomac","synonyms":["combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection"," combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections"," combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections"," dendritic cell, monocyte, b and nk lymphoid deficiency"," dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency"," immunodeficiency 21"," immunodeficiency type 21"," monocyte-b natural killer dendritic cell deficiency syndrome"," monocyte-b-natural killer-dendritic cell deficiency syndrome"," monocytopenia and mycobacterial infection syndrome"," monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia"," monomac"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Immunology"],"tagsCause":[]},{"id":9697,"name":"Monomelic amyotrophy","encodedName":"monomelic-amyotrophy","synonyms":["benign focal amyotrophy"," hirayama disease"," jmadue"," juvenile muscular atrophy of distal upper extremity"," juvenile muscular atrophy of the distal upper limb"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":[],"tagsSpecialist":["Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":4886,"name":"Mononen-Karnes-Senac syndrome","encodedName":"mononen-karnes-senac-syndrome","synonyms":["brachydactyly, mononen type"," mononen type brachydactyly"," short and abducted thumbs and great toes"," skeletal dysplasia-brachydactyly syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":7056,"name":"Mononeuritis multiplex","encodedName":"mononeuritis-multiplex","synonyms":["multiple mononeuropathy"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Neuromuscular medicine"],"tagsCause":[]},{"id":16847,"name":"Monosomy 13q34","encodedName":"monosomy-13q34","synonyms":["del(13)(q34)"," distal deletion 13q34"," monosomy 13q34 syndrome"," monosomy type 13q34"," subtelomeric deletion 13q34"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":10860,"name":"Monosomy 21","encodedName":"monosomy-21","synonyms":["21q deletion syndrome"," 21q- syndrome"," monosomy type 21"," partial 21q monosomy"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":19324,"name":"Monosomy 22","encodedName":"monosomy-22","synonyms":["del(22)"," deletion 22"," monosomy 22 syndrome"," monosomy type 22"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":18934,"name":"Monosomy 9q22.3","encodedName":"monosomy-9q223","synonyms":["9q22.3 deletion syndrome"," 9q22.3 microdeletion"," microdeletion 9q22.3"," monosomy 9q22.3 syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":9690,"name":"Morbus Kienboeck","encodedName":"morbus-kienboeck","synonyms":["aseptic necrosis of the lunate bone"," bilateral kienbock's disease"," keinbock disease"," keinbock's disease"," kienbock disease"," kienboeck's disease"," kienböck disease"," kienböck's disease"," lunatomalacia"," osteochondritis of the lunate bone"," osteochondrosis of the lunate bone"," progressive avascular necrosis of lunate"," progressive avascular necrosis of the lunate bone"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Rheumatology","Orthopedics"],"tagsCause":[]},{"id":10121,"name":"MORM syndrome","encodedName":"morm-syndrome","synonyms":["intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome"," intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome"," mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome"," mental retardation, truncal obesity, retinal dystrophy, and micropenis"," morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Endocrine","Retinal","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":13354,"name":"Morning glory syndrome","encodedName":"morning-glory-syndrome","spanishId":13357,"spanishName":"sindrome-morning-glory","synonyms":["ectasic coloboma"," morning glory anomaly"," morning glory disc anomaly"," morning glory disk anomaly"," morning glory optic disc"," volubilis syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":12562,"name":"Morquio syndrome","encodedName":"morquio-syndrome","synonyms":["atypical chondrodystrophy"," brailsford-morquio syndrome"," chondro-osteodystrophy"," chondrodystrophia tarda"," deficiency of chondroitinsulphatase"," eccentro-osteochondrodysplasia"," eccentrochondrodysplasia"," eccentroosteochondrodysplasia"," 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protein-losing enteropathy-hepatic fibrosis syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17255,"name":"MRCS syndrome","encodedName":"mrcs-syndrome","synonyms":["microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"," microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome"," mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":10671,"name":"Mucoepidermoid carcinoma","encodedName":"mucoepidermoid-carcinoma","synonyms":["mec"," mucoepidermoid carcinoma (morphologic abnormality)"," mucoepidermoid tumor"," mucoepidermoid 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mucopolysaccharidosis type ih/s"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"tagsAccount":["Lysosomal","Craniofacial Anomalies","Cardiomyopathy","Glaucoma"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Ophthalmology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":12561,"name":"Mucopolysaccharidosis, MPS-I-S","encodedName":"mucopolysaccharidosis-mps-i-s","synonyms":["l-iduronidase deficiency, scheie type"," mps 1-s - mucopolysaccharidosis type i-s"," mps i s"," mps v"," mps1s"," mpsis"," mucopolysaccharidosis type 1s"," mucopolysaccharidosis type i mild form"," mucopolysaccharidosis type i-s"," mucopolysaccharidosis type is"," mucopolysaccharidosis type v"," scheie disease mps type 1s"," scheie syndrome"," scheie's syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital 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mnkes"," muenke nonsyndromic coronal craniosynostosis"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":6821,"name":"Muir-Torré syndrome","encodedName":"muir-torr-syndrome","synonyms":["cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas"," mlh1-related muir-torre syndrome"," mrtes"," msh2-related muir-torre syndrome"," muir-torre syndrome"," multiple keratoacanthoma, muir-torre type"," torre-muir syndrome"," torré-muir syndrome"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":95,"name":"Mulibrey nanism syndrome","encodedName":"mulibrey-nanism-syndrome","synonyms":["mul"," mulibrey dwarfism"," mulibrey growth disorder"," mulibrey nanism"," muscle-liver-brain-eye nanism"," muscle, liver, brain, eye nanism syndrome"," perheentupa syndrome"," pericardial constriction and growth failure"," pericardial constriction-growth failure syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":7100,"name":"Mullerian aplasia","encodedName":"mullerian-aplasia","synonyms":["aplasia of müllerian ducts"," aplasia of the mullerian ducts"," aplasia of the müllerian ducts"," mullerian duct failure"," müllerian aplasia"," müllerian duct failure"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":17195,"name":"Mullerian aplasia and hyperandrogenism","encodedName":"mullerian-aplasia-and-hyperandrogenism","synonyms":["mullerian duct failure and hyperandrogenism"," müllerian aplasia and hyperandrogenism"," müllerian duct failure and hyperandrogenism"," wnt4 deficiency"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":5430,"name":"Mullerian derivatives-lymphangiectasia-polydactyly syndrome","encodedName":"mullerian-derivatives-lymphangiectasia-polydactyly-syndrome","synonyms":["müllerian derivatives-lymphangiectasia-polydactyly syndrome"," urioste syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Urologist","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":2908,"name":"Mullerian duct anomalies-limb anomalies syndrome","encodedName":"mullerian-duct-anomalies-limb-anomalies-syndrome","synonyms":["hypomelia with mullerian duct anomalies"," limb uterus syndrome"," müllerian duct anomalies-limb anomalies syndrome"," severe upper limb hypoplasia and mullerian duct anomalies"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":3818,"name":"Multicentric carpo-tarsal osteolysis with or without nephropathy","encodedName":"multicentric-carpo-tarsal-osteolysis-with-or-without-nephropathy","synonyms":["carnevale canun mendoza syndrome"," idiopathic multicentric osteolysis with or without nephropathy"," multicentric carpotarsal osteolysis syndrome"," multicentric carpotarsal osteolysis with or without nephropathy"," multicentric osteolysis of carpal bones and nephropathy"," multicentric osteolysis, autosomal dominant"," osteolysis, hereditary, of carpal bones with or without nephropathy"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17610,"name":"Multicentric osteolysis nodulosis arthropathy spectrum","encodedName":"multicentric-osteolysis-nodulosis-arthropathy-spectrum","synonyms":["mona (multicentric osteolysis nodulosis arthropathy) spectrum"," mona spectrum"," multicentric osteolysis-nodulosis-arthropathy spectrum"," nao syndrome"," nodulosis-arthropathy-osteolysis syndrome"," torg-winchester syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":13743,"name":"Multicentric osteolysis, nodulosis, and arthropathy","encodedName":"multicentric-osteolysis-nodulosis-and-arthropathy","synonyms":["al-aqeel sewairi syndrome"," mona"," mona, mmp2-related"," multicentric osteolysis, nodulosis and arthropathy, mmp2-related"," osteolysis, hereditary multicentric"," torg syndrome"," winchester-torg syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":7103,"name":"Multicentric reticulohistiocytosis","encodedName":"multicentric-reticulohistiocytosis","synonyms":["giant cell histiocytomatosis"," lipoid dermatoarthritis"," nicolau-balus syndrome"],"tagsDiseaseCategory":["Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Rheumatology","Dermatology"],"tagsCause":[]},{"id":18748,"name":"Multicystic kidney dysplasia","encodedName":"multicystic-kidney-dysplasia","synonyms":["mcdk"," mckd - multicystic kidney disease"," multicystic dysplastic kidney"," multicystic kidneys"," multicystic renal dysplasia"],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Nephrology","Pediatrics"],"tagsCause":[]},{"id":1235,"name":"Multifocal atrial tachycardia","encodedName":"multifocal-atrial-tachycardia","synonyms":["chaotic atrial 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angiomatosis, thrombocytopenia syndrome"," dkfzp434l132"," malt1 wt allele"," mlt"," mlt - multifocal lymphangioendotheliomatosis with thrombocytopenia"," mlt1"," mucosa associated lymphoid tissue lymphoma translocation gene 1 wt allele"," multifocal lymphangioendotheliomatosis with thrombocytopenia"," multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome"],"tagsDiseaseCategory":["Cancer","Hematology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Hematology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":11011,"name":"Multifocal motor neuropathy","encodedName":"multifocal-motor-neuropathy","synonyms":["mmn"," mmn - motor neuropathy with multiple conduction block"," mmncb"," motor neuropathy with multiple conduction block"," multifocal motor neuropathy with conduction block"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Neurology","Neuromuscular 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syndrome","encodedName":"multinodular-goiter-cystic-kidney-polydactyly-syndrome","synonyms":["daneman davy mancer syndrome"," daneman-davy-mancer syndrome"," mng/crd/da"," multinodular goiter, cystic kidney, polydactyly syndrome"," multinodular goiter/cystic renal disease/digital anomalies"," thyroid-renal-digital anomalies"," thyroid, renal, digital anomaly syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":17922,"name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","encodedName":"multinucleated-neurons-anhydramnios-renal-dysplasia-cerebellar-hypoplasia-hydranencephaly-syndrome","synonyms":["hydranencephaly with renal aplasia-dysplasia"," march syndrome"," multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Neurology","Nephrology","Urologist","Pediatrics"],"tagsCause":[]},{"id":6523,"name":"Multiple acyl-CoA dehydrogenase deficiency","encodedName":"multiple-acyl-coa-dehydrogenase-deficiency","synonyms":["electron transfer flavoprotein deficiency"," electron transfer flavoprotein ubiquinone oxidoreductase deficiency"," ethylmalonic-adipicaciduria"," ga 2"," ga ii"," glutaric acidemia type 2"," glutaric acidemia type ii"," glutaric acidemia, type 2"," glutaric aciduria type 2"," glutaric aciduria type ii"," glutaric aciduria, type 2"," mad - multiple acyl-coa dehydrogenase deficiency"," mad deficiency"," madd"," madd - multiple acyl-coa dehydrogenase deficiency"," multiple acyl coenzyme a dehydrogenase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of 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disabilities","Pediatrics"],"tagsCause":[]},{"id":7035,"name":"Multiple congenital exostosis","encodedName":"multiple-congenital-exostosis","synonyms":["bessel-hagen disease"," diaphyseal aclasia"," exostoses, multiple"," ext"," hereditary multiple exostoses"," hereditary multiple exostosis"," hereditary multiple osteochondromas"," multiple cartilaginous exostoses"," multiple exostoses"," multiple exostoses type i"," multiple exostosis syndromes"," multiple ostechondromas"," multiple osteochondromas"," multiple osteochondromatosis"," osteochondromatosis"," osteochondromatosis syndrome"," osteochondromatosis syndrome (disorder) [ambiguous]"],"tagsDiseaseCategory":["Cancer","Genetics","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":16600,"name":"Multiple cutaneous and mucosal venous 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tumasia"],"tagsDiseaseCategory":["Cancer","Genetics","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":4881,"name":"Multiple endocrine neoplasia type 2A","encodedName":"multiple-endocrine-neoplasia-type-2a","synonyms":["mea type 2a"," mea type ii"," men (multiple endocrine neoplasia) type 2a"," men 2a"," men type 2a"," men type ii"," men-2a syndrome"," men2a"," men2a - multiple endocrine neoplasia type 2a"," multiple endocrine adenomatosis type 2a"," multiple endocrine adenomatosis type ii"," multiple endocrine adenomatosis, type ii"," multiple endocrine neoplasia ii"," multiple endocrine neoplasia iia"," multiple endocrine neoplasia type ii"," multiple endocrine neoplasia, type ii"," multiple endocrine neoplasia, type iia"," pheochromocytoma and amyloid producing medullary thyroid carcinoma"," ret-related multiple endocrine neoplasia type 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wagenmann-froboese syndrome"],"tagsDiseaseCategory":["Cancer","Genetics","Endocrine","Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics","Endocrine","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":17275,"name":"Multiple endocrine neoplasia type 4","encodedName":"multiple-endocrine-neoplasia-type-4","synonyms":["cdkn1b multiple endocrine neoplasia"," men (multiple endocrine neoplasia) 4 syndrome"," men4"," multiple endocrine neoplasia caused by mutation in cdkn1b"," multiple endocrine neoplasia, type iv"],"tagsDiseaseCategory":["Cancer","Genetics","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Genetics","Endocrine"],"tagsCause":[]},{"id":3829,"name":"Multiple endocrine neoplasia, type 1","encodedName":"multiple-endocrine-neoplasia-type-1","synonyms":["endocrine adenomatosis multiple"," mea i"," mea type 1"," mea type i"," mea, type 1"," men 1"," men 1 - multiple endocrine neoplasia syndrome type 1"," men 1 syndrome"," 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radial defect"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4034,"name":"Oculocerebral hypopigmentation syndrome of Preus","encodedName":"oculocerebral-hypopigmentation-syndrome-of-preus","synonyms":["oculocerebral hypopigmentation syndrome of preus type"," oculocerebral hypopigmentation syndrome, preus type"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Odontology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":106,"name":"Oculocerebrocutaneous syndrome","encodedName":"oculocerebrocutaneous-syndrome","synonyms":["delleman syndrome"," delleman-oorthuys syndrome"," leichtman-wood-rohn syndrome"," occs"," orbital cyst with cerebral and focal dermal 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pseudohermaphroditism"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Infertility"],"tagsSpecialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"tagsCause":[]},{"id":4229,"name":"Partial atrioventricular canal","encodedName":"partial-atrioventricular-canal","synonyms":["incomplete atrioventricular septal defect"," incomplete avsd"," partial atrioventricular canal defect"," partial atrioventricular septal defect"," partial atrioventricular septal defects"," partial avc defect"," partial avsd"," partial common atrioventricular canal"," partial defect of atrioventricular canal"," pavc"," pavsd"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"],"tagsCause":[]},{"id":16574,"name":"Partial chromosome Y deletion","encodedName":"partial-chromosome-y-deletion","synonyms":["male sterility due to chromosome y deletion"," partial deletion of chromosome y"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly","Infertility"],"tagsSpecialist":["Genetics","Urologist"],"tagsCause":[]},{"id":21707,"name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","encodedName":"partial-corpus-callosum-agenesis-cerebellar-vermis-hypoplasia-with-posterior-fossa-cysts-syndrome","synonyms":["partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":5369,"name":"Partial duplication of the long arm of chromosome X","encodedName":"partial-duplication-of-the-long-arm-of-chromosome-x","synonyms":["partial duplication of chromosome xq"," partial duplication of the long arm of chromosome type x"," partial trisomy of  chromosome xq"," partial trisomy of chromosome xq"," partial trisomy of the long arm of chromosome x"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics"],"tagsCause":[]},{"id":16710,"name":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency","encodedName":"partial-hypoxanthine-guanine-phosphoribosyltransferase-deficiency","synonyms":["gout, hprt-related"," gout, hprt1-related"," hprt deficiency, grade i"," hprt deficiency, partial"," hprt partial deficiency"," hprt-related gout"," hprt-related hyperuricemia"," hprt1 deficiency, partial"," hprt1 partial deficiency"," hyperuricemia, hrpt-related, x-linked recessive"," hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial"," hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency"," hypoxanthine guanine phosphoribosyltransferase deficiency, grade i"," hypoxanthine guanine phosphoribosyltransferase partial deficiency"," kelley-seegmiller syndrome"," partial hgprt deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Hematology","Inborn Errors of Metabolism"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Genetics","Neurology","Nephrology","Hematology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4235,"name":"Partington syndrome","encodedName":"partington-syndrome","synonyms":["mental retardation-dystonic movements-ataxia-seizures syndrome"," partington syndrome, x-linked recessive"," partington x-linked intellectual disability syndrome"," partington-mulley syndrome"," x-linked intellectual deficit-dystonia-dysarthria syndrome"," x-linked intellectual disability-dystonia-dysarthria syndrome"," x-linked russell-silver syndrome"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":8709,"name":"Patella aplasia/hypoplasia","encodedName":"patella-aplasiahypoplasia","synonyms":["absent or hypoplastic patellae"," absent/hypoplastic patella"," absent/small kneecap"," absent/underdeveloped kneecap"," aplasia/hypoplasia of the patella"," aplastic or hypoplastic patellae"," familial absence of the patella"," familial aplasia of the patella (subtype)"," hypoplastic or absent patella"," patella aplasia or hypoplasia"," patella aplasia-hypoplasia"," patellar aplasia/hypoplasia"," ptlah"," small to absent patellae"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17148,"name":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","encodedName":"patent-ductus-arteriosus-bicuspid-aortic-valve-hand-anomalies-syndrome","synonyms":["patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"," patent ductus arteriosus and bicuspid aortic valve with hand anomalies"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Cardiology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":20777,"name":"Paternal 20q13.2q13.3 microdeletion syndrome","encodedName":"paternal-20q132q133-microdeletion-syndrome","synonyms":["paternal 20q13.2-q13.3 microdeletion syndrome"," paternal del(20)(q13.2q13.3)"," paternal monosomy 20q13.2-q13.3"," paternal monosomy 20q13.2q13.3"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":20688,"name":"Paternal uniparental disomy of chromosome 1","encodedName":"paternal-uniparental-disomy-of-chromosome-1","synonyms":["paternal uniparental disomy of chromosome type 1"," upd(1)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19678,"name":"Paternal uniparental disomy of chromosome 13","encodedName":"paternal-uniparental-disomy-of-chromosome-13","synonyms":["paternal uniparental disomy of chromosome type 13"," upd(13)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":5409,"name":"Paternal uniparental disomy of chromosome 14","encodedName":"paternal-uniparental-disomy-of-chromosome-14","synonyms":["kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14"," paternal uniparental disomy of chromosome type 14"," upd(14)pat"," upd14, paternal"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":19343,"name":"Paternal uniparental disomy of chromosome 20","encodedName":"paternal-uniparental-disomy-of-chromosome-20","synonyms":["paternal uniparental disomy of chromosome type 20"," paternal upd(20)"," paternal upd20"," paternal upd20 (uniparental disomy of chromosome 20)"," upd(20)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19344,"name":"Paternal uniparental disomy of chromosome 21","encodedName":"paternal-uniparental-disomy-of-chromosome-21","synonyms":["paternal uniparental disomy of chromosome type 21"," upd(21)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19339,"name":"Paternal uniparental disomy of chromosome 5","encodedName":"paternal-uniparental-disomy-of-chromosome-5","synonyms":["paternal uniparental disomy of chromosome type 5"," upd(5)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19340,"name":"Paternal uniparental disomy of chromosome 6","encodedName":"paternal-uniparental-disomy-of-chromosome-6","synonyms":["paternal uniparental disomy of chromosome type 6"," upd(6)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":19341,"name":"Paternal uniparental disomy of chromosome 7","encodedName":"paternal-uniparental-disomy-of-chromosome-7","synonyms":["paternal uniparental disomy of chromosome type 7"," upd(7)pat"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":20784,"name":"Paternal uniparental disomy of chromosome X","encodedName":"paternal-uniparental-disomy-of-chromosome-x","synonyms":["paternal uniparental disomy of chromosome type x"," upd(x)pat"," upd(x)pat - paternal uniparental disomy of chromosome x"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":9821,"name":"Patterned dystrophy of the retinal pigment epithelium","encodedName":"patterned-dystrophy-of-the-retinal-pigment-epithelium","synonyms":["mdpt1"," pattern dystrophy"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal"],"tagsCause":[]},{"id":17826,"name":"Patterned macular dystrophy 3","encodedName":"patterned-macular-dystrophy-3","synonyms":["macular dystrophy, patterned, 3"," macular dystrophy, patterned, type 3"," mapkapk3 patterned macular dystrophy"," martinique crinkled retinal pigment epitheliopathy"," mcrpe"," mcrpe - martinique crinkled retinal pigment epitheliopathy"," mdpt3"," mdpt3 - patterned macular dystrophy 3"," patterned macular dystrophy caused by mutation in mapkapk3"," patterned macular dystrophy type 3"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal"],"tagsCause":[]},{"id":4260,"name":"Patterson-Stevenson-Fontaine syndrome","encodedName":"patterson-stevenson-fontaine-syndrome","synonyms":["patterson stevenson fontaine syndrome"," patterson-stevenson syndrome"," split foot deformity with mandibulofacial dysostosis syndrome"," split foot deformity-mandibulofacial dysostosis syndrome"," split-foot deformity with ectrodactyly and mandibulofacial dysostosis"," split-foot deformity with mandibulofacial dysostosis"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":17004,"name":"PCWH syndrome","encodedName":"pcwh-syndrome","synonyms":["neurologic waardenburg shah syndrome"," neurologic waardenburg-shah syndrome"," pcwh"," pcwh - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease"," peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-hirschsprung disease-waardenburg syndrome"," peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease"," peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease"," peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease"," waardenburg-shah syndrome, neurologic variant"," ws4 plus"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Dermatology","Congenital Abnormality","Leukodystrophy"],"tagsAccount":["Dermatology","Leukodystrophy","Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Dermatology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":7342,"name":"PDA1","encodedName":"pda1","synonyms":["patent ductus arteriosus 1"," patent ductus arteriosus, susceptibility to"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Congenital Heart Disease","Vascular Medicine"],"tagsCause":[]},{"id":7343,"name":"Pearson syndrome","encodedName":"pearson-syndrome","synonyms":["pearson marrow-pancreas syndrome"," pearson's syndrome"," sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction"],"tagsDiseaseCategory":["Genetics","Endocrine","Gastroenterology","Hematology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial"],"tagsSpecialist":["Genetics","Endocrine","Gastroenterology","Hematology","Pediatrics"],"tagsCause":[]},{"id":374,"name":"Pectus excavatum-macrocephaly-dysplastic nails syndrome","encodedName":"pectus-excavatum-macrocephaly-dysplastic-nails-syndrome","synonyms":["familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails"," pectus excavatum, macrocephaly and dysplastic nails"," zori stalker williams syndrome"," zori-stalker-williams syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":28179,"name":"Pediatric acute-onset neuropsychiatric syndrome","encodedName":"pediatric-acute-onset-neuropsychiatric-syndrome","synonyms":["pans"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":9331,"name":"Pediatric hepatocellular carcinoma","encodedName":"pediatric-hepatocellular-carcinoma","synonyms":["childhood carcinoma of the liver cell"," childhood hepatocellular carcinoma"," childhood-onset hcc"," childhood-onset hcc (hepatocellular carcinoma)"," childhood-onset hepatocellular carcinoma"," paediatric carcinoma of the liver cell"," paediatric hcc"," pediatric carcinoma of the liver cell"," pediatric hcc"," pediatric hcc (hepatocellular carcinoma)"],"tagsDiseaseCategory":["Cancer","Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":10443,"name":"Pediatric multiple sclerosis","encodedName":"pediatric-multiple-sclerosis","synonyms":[""],"tagsDiseaseCategory":["Neurology"],"tagsAccount":[],"tagsSpecialist":["Neurology","Pediatrics"],"tagsCause":[]},{"id":7347,"name":"Peeling skin syndrome","encodedName":"peeling-skin-syndrome","synonyms":["deciduous skin"," familial continuous skin peeling syndrome"," hereditary skin peeling syndrome"," idiopathic deciduous skin"," keratosis exfoliativa congenita"," peeling skin disease"," pss"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology","Ichthyosis"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":17764,"name":"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome","encodedName":"peeling-skin-leukonuchia-acral-punctate-keratoses-cheilitis-knuckle-pads-syndrome","synonyms":["peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"," peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"," peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome"," peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome"," plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome"," plack syndrome"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology","Ichthyosis"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":4264,"name":"PEHO syndrome","encodedName":"peho-syndrome","synonyms":["peho"," peho (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome"," progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"," progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome"," progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy"," progressive encephalopathy-optic atrophy syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Epilepsy","Neuro-Ophthalmology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":16911,"name":"PEHO-like syndrome","encodedName":"peho-like-syndrome","synonyms":["peho syndrome-like"," pehol (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome"," progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Dermatology","Epilepsy","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":9148,"name":"Pelger-Huët anomaly","encodedName":"pelger-hut-anomaly","synonyms":["pelger huet anomaly"," pelger-huet anomaly"," pha"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":12300,"name":"Pelizaeus Merzbacher like disease","encodedName":"pelizaeus-merzbacher-like-disease","synonyms":["pelizaeus-merzbacher-like disease"," pmld"," pmld - pelizaeus merzbacher like disease"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":4265,"name":"Pelizaeus-Merzbacher disease","encodedName":"pelizaeus-merzbacher-disease","spanishId":13086,"spanishName":"enfermedad-de-pelizaeus-merzbacher","synonyms":["diffuse familial brain sclerosis"," hld1"," hypomyelinating leukodystrophy 1"," leukodystrophy, hypomyelinating, 1"," leukodystrophy, sudanophilic"," pelizaeus merzbacher brain sclerosis"," pelizaeus-merzbacher brain sclerosis"," pelizaeus-merzbacher disease, x-linked recessive"," pelizeaus-merzbacher spectrum disorder"," pmd"," sudanophilic leukodystrophy"," sudanophilic leukodystrophy, paelizeus-merzbacher type"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":21073,"name":"Pelizaeus-Merzbacher disease, classic form","encodedName":"pelizaeus-merzbacher-disease-classic-form","synonyms":["classic pmd"," type i classic pelizaeus-merzbacher disease"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17291,"name":"Pelizaeus-Merzbacher disease, connatal form","encodedName":"pelizaeus-merzbacher-disease-connatal-form","synonyms":["connatal pmd"," pelizaeus-merzbacher disease type ii"," severe pmd"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10014,"name":"Pellagra","encodedName":"pellagra","synonyms":["niacin deficiency"," niacin-tryptophan deficiency"],"tagsDiseaseCategory":["Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Dermatology"],"tagsCause":[]},{"id":4267,"name":"Pellagra-like syndrome","encodedName":"pellagra-like-syndrome","synonyms":["pellagra-like rash with neurologic manifestations"," pellagra-like skin rash-neurological manifestations syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":11895,"name":"Pellucid marginal degeneration","encodedName":"pellucid-marginal-degeneration","synonyms":["pellucid marginal corneal degeneration"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Ophthalmology","Anterior segment of Eye"],"tagsCause":[]},{"id":4269,"name":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome","encodedName":"pelvic-dysplasia-arthrogryposis-of-lower-limbs-syndrome","synonyms":["pelvic hypoplasia with lower-limb arthrogryposis"," ray-peterson-scott syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":19045,"name":"Pelvis syndrome","encodedName":"pelvis-syndrome","synonyms":["lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome"," lumbar syndrome"," pelvis (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome"," perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome"," perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome"," perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome"," sacral syndrome"," urorectal septum malformation sequence"],"tagsDiseaseCategory":["Cancer","Genetics","Neurology","Gastroenterology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Gastroenterology","Dermatology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":16611,"name":"Pelvis-shoulder dysplasia","encodedName":"pelvis-shoulder-dysplasia","synonyms":["kosenow syndrome"," pelvis shoulder dysplasia"," scapuloiliac dysostosis"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":1555,"name":"Pelviscapular dysplasia","encodedName":"pelviscapular-dysplasia","synonyms":["cousin syndrome"," familial pelvis-scapular dysplasia"," pelviscapular dysplasia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":26598,"name":"Pemphigoid","encodedName":"pemphigoid","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":7352,"name":"Pemphigus","encodedName":"pemphigus","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":7353,"name":"Pemphigus and fogo selvagem","encodedName":"pemphigus-and-fogo-selvagem","synonyms":["brazilian pemphigus"," brazilian pemphigus foliaceus"," endemic pemphigus foliaceus"," fogo selvagem"," south american pemphigus"," wildfire pemphigus"],"tagsDiseaseCategory":["Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Dermatology","Pediatrics"],"tagsCause":[]},{"id":7354,"name":"Pemphigus foliaceus","encodedName":"pemphigus-foliaceus","synonyms":["pemphigus foliaceous"," pf - pemphigus 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thyroid hormone organification defect ii b"," thyroid hormonogenesis, genetic defect in, 2b"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":4272,"name":"Penile agenesis","encodedName":"penile-agenesis","synonyms":["aphallia"," aphallus"," congenital absence of penis"," penis agenesis"],"tagsDiseaseCategory":["Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Endocrine","Urologist","Pediatrics"],"tagsCause":[]},{"id":9366,"name":"Penile cancer","encodedName":"penile-cancer","synonyms":["ca penis"," cancer of penis"," malignant neoplasm of body of penis"," malignant neoplasm of penis"," malignant neoplasm of the penis"," malignant penile neoplasm"," malignant penile tumor"," malignant penile tumour"," malignant penis neoplasm"," malignant tumor of penis"," malignant tumor of the penis"," malignant tumour of penis"," malignant tumour of the penis"," penile ca"," penis cancer"],"tagsDiseaseCategory":["Cancer","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Urologist"],"tagsCause":[]},{"id":4273,"name":"Penoscrotal transposition","encodedName":"penoscrotal-transposition","synonyms":["congenital penoscrotal transposition"," congenital transposition of the penis"," penoscrotal transposition (disease)"," prepenile scrotum"],"tagsDiseaseCategory":["Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Urologist","Pediatrics"],"tagsCause":[]},{"id":13447,"name":"PENS syndrome","encodedName":"pens-syndrome","spanishId":13448,"spanishName":"sindrome-de-nevus-epidermico-papuloso-con-capas-de-celulas-basales-en-horizonte","synonyms":["papular epidermal nevi with skyline basal cell layers syndrome"," pens (papular epidermal nevi with skyline basal cell layers) 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juvenile onset pernicious anemia"," megaloblastic anemia due to impaired absorption of cobalamin"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":12477,"name":"Peroxisomal single enzyme/protein defect","encodedName":"peroxisomal-single-enzymeprotein-defect","synonyms":[""],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":11890,"name":"Peroxisome biogenesis disorder","encodedName":"peroxisome-biogenesis-disorder","synonyms":["pbd-zsd"," pbd, zss"," peroxisomal biogenesis disorders"," peroxisomal biogenesis disorders, zellweger syndrome spectrum"," peroxisome biogenesis disorder spectrum"," peroxisome biogenesis disorder-zellweger spectrum disorder"," peroxisome biogenesis disorder-zellweger syndrome spectrum"," peroxisome biogenesis disorders, zellweger syndrome spectrum"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of 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system"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"tagsCause":[]},{"id":8435,"name":"Persistent Mullerian duct syndrome","encodedName":"persistent-mullerian-duct-syndrome","synonyms":["female genital ducts in otherwise normal male"," hernia uteri inguinale"," persistent muellerian duct syndrome"," persistent mullerian derivatives"," persistent mullerian duct syndrome, type i"," persistent mullerian duct syndrome, type ii"," persistent mullerian duct syndrome, types i and ii"," persistent müllerian derivatives"," persistent müllerian duct syndrome"," persistent oviduct syndrome"," pmds"," pseudohermaphroditism, male internal"],"tagsDiseaseCategory":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":["Infertility"],"tagsSpecialist":["Genetics","Endocrine","Urologist","Pediatrics"],"tagsCause":[]},{"id":19369,"name":"Persistent placoid 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myositis"," stone man syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Dermatology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":18759,"name":"Progressive non-infectious anterior vertebral fusion","encodedName":"progressive-non-infectious-anterior-vertebral-fusion","synonyms":["copenhagen syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":109,"name":"Progressive osseous heteroplasia","encodedName":"progressive-osseous-heteroplasia","synonyms":["cutaneous ossification"," cutaneous osteosis"," ectopic ossification, familial"," familial ectopic ossification"," miliary osteoma"," osseus heteroplasia, progressive"," osteodermia"," osteoma cutis"," osteomatosis"," osteosis cutis"," poh"," progressive osseus heteroplasia 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retinol dystrophy-iris coloboma-comedogenic acne syndrome"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"tagsCause":[]},{"id":19043,"name":"Progressive rubella panencephalitis","encodedName":"progressive-rubella-panencephalitis","synonyms":["rubella panencephalitis"],"tagsDiseaseCategory":["Infectious Disease","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Infectious Disease","Neurology","Epilepsy","Pediatrics"],"tagsCause":[]},{"id":17779,"name":"Progressive scapulohumeroperoneal distal myopathy","encodedName":"progressive-scapulohumeroperoneal-distal-myopathy","synonyms":["myopathy, scapulohumeroperoneal"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":5783,"name":"Progressive sclerosing poliodystrophy","encodedName":"progressive-sclerosing-poliodystrophy","synonyms":["ahd"," ahs"," alper syndrome"," alper's disease"," alper's syndrome"," alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis"," alpers disease"," alpers huttenlocher disease"," alpers huttenlocher syndrome"," alpers progressive infantile poliodystrophy"," alpers progressive sclerosing poliodystrophy"," alpers syndrome"," alpers-huttenlocher"," alpers-huttenlocher syndrome"," alpers' disease"," alpers' disease or gray-matter degeneration"," gray matter degeneration"," mitochondrial dna depletion syndrome 4a"," mitochondrial dna depletion syndrome 4a (alpers type)"," mitochondrial dna depletion syndrome type 4a"," mtdps4a"," neuronal degeneration of childhood with liver disease, progressive"," poliodystrophy"," progressive neuronal degeneration of childhood with liver disease"," progressive neuronal degeneration with liver cirrhosis"," spongy glioneuronal dystrophy"],"tagsDiseaseCategory":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Gastroenterology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17145,"name":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","encodedName":"progressive-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-syndrome","synonyms":["deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22"," progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome"," progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome"," progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome"," progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"," progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Otolaryngology","Clinical Cardiac Electrophysiology","Pediatrics"],"tagsCause":[]},{"id":17808,"name":"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome","encodedName":"progressive-spondyloepimetaphyseal-dysplasia-short-stature-short-fourth-metatarsals-intellectual-disability-syndrome","synonyms":["progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome"," semdfa"," spondyloepimetaphyseal dysplasia, faden-alkuraya type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":7471,"name":"Progressive supranuclear palsy","encodedName":"progressive-supranuclear-palsy","synonyms":["progressive supranuclear ophthalmoplegia"," psp - progressive supranuclear palsy"," psp syndrome"," steele-richardson-olszewski disease"," steele-richardson-olszewski syndrome"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Neuro-Ophthalmology"],"tagsCause":[]},{"id":10712,"name":"Progressive transformation of germinal centers","encodedName":"progressive-transformation-of-germinal-centers","synonyms":["progressive transformation of germinal centres"," ptgc"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":4508,"name":"Prolactin-producing pituitary gland adenoma","encodedName":"prolactin-producing-pituitary-gland-adenoma","synonyms":["familial prolactinoma"," lactotrope adenoma"," lactotroph adenoma"," lactotroph cell adenoma"," pituitary adenoma, prolactin-secreting"," pituitary gland 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gland"],"tagsDiseaseCategory":["Cancer","Genetics","Endocrine"],"tagsAccount":["Infertility","Pituitary deficiency"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":7473,"name":"Prolidase deficiency","encodedName":"prolidase-deficiency","synonyms":["deficiency of imidodipeptidase"," deficiency of prolidase"," deficiency of proline dipeptidase"," deficiency of xaa-pro dipeptidase"," hyperimidodipeptiduria"," hyperimidodipeptiduria due to proline dipeptidase deficiency"," iminodipeptiduria"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Dermatology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4509,"name":"Proliferating trichilemmal cyst","encodedName":"proliferating-trichilemmal-cyst","synonyms":["pilar cyst"," pilar tumor"," pilar tumour"," 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deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Neurology","Immunology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4610,"name":"Pyknoachondrogenesis","encodedName":"pyknoachondrogenesis","synonyms":["camera syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4611,"name":"Pyknodysostosis","encodedName":"pyknodysostosis","synonyms":["maroteaux-lamy pyknodysostosis syndrome"," maroteaux-lamy syndrome ii"," pycnodysostosis"," stanesco's dysostosis syndrome"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"tagsAccount":["Lysosomal","Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4612,"name":"Pyle metaphyseal 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tropical myositis"," tropical pyomyositis"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Rheumatology","Pediatrics"],"tagsCause":[]},{"id":10730,"name":"Pyridoxal phosphate-responsive seizures","encodedName":"pyridoxal-phosphate-responsive-seizures","synonyms":["epileptic encephalopathy, neonatal, pnpo-related"," p5pd developmental and epileptic encephalopathy"," p5pd-dee - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy"," pnpo deficiency"," pnpo-dee - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy"," pnpo-related neonatal epileptic encephalopathy"," pnpod"," pyridox(am)ine 5’-phosphate oxidase deficiency"," pyridoxal 5-phosphate dependent epilepsy"," pyridoxal phosphate-dependent seizures"," pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy"," pyridoxamine 5-prime-phosphate oxidase deficiency"," pyridoxamine 5'-oxidase deficiency"," pyridoxamine 5'-phosphate deficiency developmental and epileptic encephalopathy"," pyridoxamine 5'-phosphate oxidase deficiency"," pyridoxine 5' phosphate oxidase deficiency"," pyridoxine-5'-phosphate oxidase deficiency"," seizures, pyridoxine-resistant, plp-sensitive"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9298,"name":"Pyridoxine-dependent epilepsy","encodedName":"pyridoxine-dependent-epilepsy","synonyms":["antiquitin deficiency"," epeo4"," epilepsy, early-onset, 4, vitamin b6-dependent"," pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy"," pyridoxine dependency with seizures"," pyridoxine-dependent dee (developmental and epileptic encephalopathy)"," pyridoxine-dependent developmental and epileptic encephalopathy"," pyridoxine-dependent seizures"," vitamin b6-dependent seizures"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4619,"name":"Pyropoikilocytosis, hereditary","encodedName":"pyropoikilocytosis-hereditary","synonyms":["hereditary pyropoikilocytosis"," hpp - hereditary pyropoikilocytosis"," pyropoikilocytosis"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":7512,"name":"Pyruvate carboxylase deficiency","encodedName":"pyruvate-carboxylase-deficiency","synonyms":["ataxia with lactic acidosis ii"," ataxia with lactic acidosis type 2"," ataxia with lactic acidosis type ii"," deficiency of pyruvate carboxylase"," deficiency of pyruvic carboxylase"," leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency"," leigh syndrome due to pc deficiency"," leigh syndrome due to pyruvate carboxylase deficiency"," pc - pyruvate carboxylase deficiency"," pc deficiency"," pyruvate carboxylase deficiency disease"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":7513,"name":"Pyruvate dehydrogenase complex deficiency","encodedName":"pyruvate-dehydrogenase-complex-deficiency","synonyms":["ataxia with lactic acidosis"," ataxia with lactic acidosis 1"," ataxia with lactic acidosis i"," deficiency of alpha-carboxylase"," deficiency of alpha-ketoacid carboxylase"," deficiency of pyruvate decarboxylase"," deficiency of pyruvate dehydrogenase (cytochrome)"," deficiency of pyruvic decarboxylase"," deficiency of pyruvic dehydrogenase"," pdh"," pdh - pyruvate dehydrogenase deficiency"," pdh deficiency"," pdhc"," pyruvate decarboxylase deficiency"," pyruvate dehydrogenase complex deficiency disease"," pyruvate dehydrogenase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":4620,"name":"Pyruvate dehydrogenase E1-alpha deficiency","encodedName":"pyruvate-dehydrogenase-e1-alpha-deficiency","synonyms":["ataxia, intermittent, with abnormal pyruvate metabolism"," ataxia, intermittent, with pyruvate dehydrogenase deficiency"," ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency"," pdhad"," pyruvate dehydrogenase complex e1 component subunit alpha deficiency"," pyruvate dehydrogenase e1-alpha deficiency, x-linked dominant"," x-linked leigh syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":3263,"name":"Pyruvate dehydrogenase E3 deficiency","encodedName":"pyruvate-dehydrogenase-e3-deficiency","synonyms":["congenital infantile lactic acidosis due to lad deficiency"," cytochrome-b reductase deficiency"," deficiency of diaphorase"," deficiency of dihydrolipoamide dehydrogenase"," deficiency of lipoamide reductase (nadh)"," diaphorase deficiency"," dihydrolipoamide dehydrogenase (e3) deficiency"," dihydrolipoamide dehydrogenase deficiency"," dihydrolipoamide dehydrogenase e3 deficiency"," dihydrolipoyl dehydrogenase deficiency"," dld - dihydrolipoamide dehydrogenase deficiency"," dld deficiency"," dldd"," e3 deficiency"," e3-deficient maple syrup urine disease"," lactic acidosis due to lad deficiency"," lipoamide dehydrogenase deficiency"," lipoamide dehydrogenase deficiency, lactic acidosis due to"," maple syrup urine disease with lactic acidosis"," maple syrup urine disease, type iii"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":9888,"name":"Pyruvate dehydrogenase phosphatase deficiency","encodedName":"pyruvate-dehydrogenase-phosphatase-deficiency","synonyms":["lactic acidemia with pyruvate dehydrogenase phosphatase deficiency"," pdh phosphatase deficiency"," pdhpd"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"tagsAccount":["Mitochondrial","Peripheral Neuropathy","Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":7514,"name":"Pyruvate kinase deficiency of red 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pythium insidiosum infection"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":7515,"name":"Q fever","encodedName":"q-fever","synonyms":["abattoir fever"," balkan grippe"," balkan influenza"," coxiella burnetii caused disease or disorder"," coxiella burnetii disease or disorder"," coxiella burnetii infectious disease"," coxiellosis"," infection due to coxiella burnetii"," nine mile fever"," quadrilateral fever"," query fever"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":371,"name":"Qazi Markouizos syndrome","encodedName":"qazi-markouizos-syndrome","synonyms":["dysharmonic skeletal maturation - muscular fiber disproportion"," dysharmonic skeletal maturation - muscular fibre disproportion"," dysharmonic skeletal maturation and muscular fiber disproportion syndrome"," dysharmonic skeletal maturation muscular fibre disproportion"," dysharmonic skeletal maturation-muscular fiber disproportion syndrome"," dysharmonic skeletal maturation-muscular fibre disproportion syndrome"," hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion"," puerto rican infant hypotonia syndrome"," qazi-markouizos syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":8345,"name":"Quebec platelet disorder","encodedName":"quebec-platelet-disorder","synonyms":["bdplt5"," bleeding disorder, platelet-type, 5"," factor v quebec"," platelet-type bleeding disorder 5"," qpd"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology"],"tagsCause":[]},{"id":26395,"name":"RAB18 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abnormalities"],"tagsDiseaseCategory":["Genetics","Endocrine","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Endocrine","Dermatology","Pediatrics"],"tagsCause":[]},{"id":5116,"name":"Radial aplasia-thrombocytopenia syndrome","encodedName":"radial-aplasia-thrombocytopenia-syndrome","synonyms":["1q21.1 susceptibility locus for thrombocytopenia-absent radius (tar) syndrome"," tar"," tar - thrombocytopenia with absent radius syndrome"," tar syndrome"," thrombocytopenia absent radius syndrome"," thrombocytopenia with absent radii (tar) syndrome"," thrombocytopenia with absent radius syndrome"," thrombocytopenia-absent radii syndrome"," thrombocytopenia-absent radius syndrome"],"tagsDiseaseCategory":["Genetics","Hematology","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Hematology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4624,"name":"Radial defect robin 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malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":258,"name":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","encodedName":"radial-hypoplasia-triphalangeal-thumbs-hypospadias-maxillary-diastema-syndrome","synonyms":["radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome"," radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema"," radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema"," schmitt gillenwater kelly syndrome"," schmitt-gillenwater-kelly syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Genetics","Urologist","Pediatrics"],"tagsCause":[]},{"id":8491,"name":"Radiation-induced meningioma","encodedName":"radiation-induced-meningioma","synonyms":[""],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":224,"name":"Radio-renal syndrome","encodedName":"radio-renal-syndrome","synonyms":[""],"tagsDiseaseCategory":["Genetics","Nephrology","Congenital Abnormality"],"tagsAccount":["Nephrology","Congenital limb malformation"],"tagsSpecialist":["Genetics","Nephrology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":16687,"name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","encodedName":"radio-ulnar-synostosis-amegakaryocytic-thrombocytopenia-syndrome","synonyms":["atrus syndrome"," radioulnar synostosis with amegakaryocytic thrombocytopenia"],"tagsDiseaseCategory":["Genetics","Hematology","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Hematology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":10876,"name":"Radioulnar synostosis","encodedName":"radioulnar-synostosis","spanishId":13324,"spanishName":"sinostosis-radiocubital-congenita","synonyms":["congenital radioulnar synostosis"," fused forearm bones"," radioulnar fusion"," radioulnar synostosis (disease)"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":1810,"name":"Radioulnar synostosis-developmental delay-hypotonia syndrome","encodedName":"radioulnar-synostosis-developmental-delay-hypotonia-syndrome","synonyms":["der kaloustian-mcintosh-silver syndrome"," radioulnar synostosis with developmental delay and hypotonia syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":394,"name":"Radioulnar synostosis-microcephaly-scoliosis syndrome","encodedName":"radioulnar-synostosis-microcephaly-scoliosis-syndrome","synonyms":["giuffre-tsukahara syndrome"," giuffré-tsukahara syndrome"," tsukahara syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":13422,"name":"Rahman syndrome","encodedName":"rahman-syndrome","synonyms":["autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation"," autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1-4 mutation"," autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1.4 linker histone, cluster member mutation"," h1-4-related neurodevelopmental disorder"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":7523,"name":"Ramon syndrome","encodedName":"ramon-syndrome","synonyms":["cherubism-gingival fibromatosis-intellectual disability syndrome"," cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Odontology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4636,"name":"Ramos-Arroyo syndrome","encodedName":"ramos-arroyo-syndrome","synonyms":["corneal anesthesia-deafness-intellectual disability syndrome"," corneal anesthesia-hearing loss-intellectual disability syndrome"," corneal anesthesia, deafness, intellectual disability syndrome"," ramos arroyo syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Retinal","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4637,"name":"Rapadilino syndrome","encodedName":"rapadilino-syndrome","synonyms":["rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies","Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":10407,"name":"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation 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hypoventilation, autonomic dysregulation, neural tumors) syndrome"],"tagsDiseaseCategory":["Genetics","Pulmonology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pulmonology","Endocrine","Pediatrics"],"tagsCause":[]},{"id":9557,"name":"Rat-bite fever","encodedName":"rat-bite-fever","synonyms":["rat bite fever"," spirillosis"," streptobacillosis"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":3231,"name":"Ravine syndrome","encodedName":"ravine-syndrome","synonyms":["progressive encephalopathy with severe infantile anorexia"," reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Leukodystrophy"],"tagsAccount":["Leukodystrophy"],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":5693,"name":"Reactive 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cud"," deficiency of plasma-membrane carnitine transporter"," primary carnitine deficiency"," slc22a5-gene related renal carnitine transport defect"," spcd"," systemic carnitine deficiency"," systemic primary carnitine deficiency"," systemic primary carnitine deficiency disease"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":13215,"name":"Renal cell carcinoma","encodedName":"renal-cell-carcinoma","synonyms":["cancer starting in small tubes in kidneys"," hypernephroma"," rcc"," renal carcinoma"," renal cell carcinoma - morphology"," renal cell carcinoma (disease)"],"tagsDiseaseCategory":["Cancer","Nephrology"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Cancer - Oncologist","Nephrology"],"tagsCause":[]},{"id":4106,"name":"Renal coloboma syndrome","encodedName":"renal-coloboma-syndrome","synonyms":["cakut 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arteries"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":18908,"name":"Retinal capillary malformation","encodedName":"retinal-capillary-malformation","synonyms":[""],"tagsDiseaseCategory":["Cancer","Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Retinal"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Ophthalmology","Retinal","Vascular Neurology","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":10650,"name":"Retinal cone dystrophy 4","encodedName":"retinal-cone-dystrophy-4","synonyms":["cacna2d4 cone dystrophy"," cone dystrophy caused by mutation in cacna2d4"," rcd4"," retinal cone dystrophy type 4"],"tagsDiseaseCategory":[],"tagsAccount":["Retinal"],"tagsSpecialist":["Retinal"],"tagsCause":[]},{"id":3196,"name":"Retinal cone dystrophy type 1","encodedName":"retinal-cone-dystrophy-type-1","synonyms":["cone dystrophy autosomal 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abnormalities"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal"],"tagsCause":[]},{"id":17411,"name":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome","encodedName":"retinal-dystrophy-optic-nerve-edema-splenomegaly-anhidrosis-and-migraine-headache-syndrome","synonyms":["optic nerve edema-splenomegaly syndrome"," optic nerve edema, splenomegaly syndrome"," retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"," retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache"," rosah"," rosah syndrome"," splenomegaly, cytopenia, and vision loss"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Neuro-Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":17467,"name":"Retinal macular dystrophy type 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leukoencephalopathy and systemic manifestations"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Rheumatology","Retinal","Vascular Neurology","Vascular Medicine"],"tagsCause":[]},{"id":5694,"name":"Retinitis pigmentosa","encodedName":"retinitis-pigmentosa","synonyms":["rp"," rp - retinitis pigmentosa"," tapetoretinal degeneration"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Retinal","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17903,"name":"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome","encodedName":"retinitis-pigmentosa-hearing-loss-premature-aging-short-stature-facial-dysmorphism-syndrome","synonyms":["retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"," short stature, hearing loss, retinitis pigmentosa, 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stgd1"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":["Retinal"],"tagsSpecialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"tagsCause":[]},{"id":19123,"name":"Severe early-onset axonal neuropathy due to MFN2 deficiency","encodedName":"severe-early-onset-axonal-neuropathy-due-to-mfn2-deficiency","synonyms":["ar-cmt2, ouvrier type"," autosomal recessive charcot-marie-tooth disease ouvrier type"," autosomal recessive charcot-marie-tooth disease, ouvrier type"," seoan due to mfn2 deficiency"," severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency"," severe early-onset axonal neuropathy due to mitofusin 2 deficiency"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Peripheral Neuropathy"],"tagsSpecialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":17746,"name":"Severe early-onset pulmonary alveolar proteinosis due to MARS 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syndrome"],"tagsDiseaseCategory":["Cancer","Dermatology","Hematology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Cancer - Oncologist","Dermatology","Hematology"],"tagsCause":[]},{"id":17744,"name":"SFTPC-related interstitial lung disease","encodedName":"sftpc-related-interstitial-lung-disease","synonyms":["interstitial lung disease due to sp-c deficiency"," interstitial lung disease due to surfactant protein c deficiency"," sftpc-related ild"],"tagsDiseaseCategory":["Genetics","Pulmonology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pulmonology","Pediatrics"],"tagsCause":[]},{"id":27359,"name":"Shashi-Pena syndrome","encodedName":"shashi-pena-syndrome","synonyms":["shapns"," shashi-pena syndrome"," shapns"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":7630,"name":"Sheehan 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gastroenteritis"],"tagsDiseaseCategory":["Infectious Disease"],"tagsAccount":[],"tagsSpecialist":["Infectious Disease","Pediatrics"],"tagsCause":[]},{"id":1502,"name":"Short bowel syndrome","encodedName":"short-bowel-syndrome","spanishId":13306,"spanishName":"sindrome-del-intestino-corto","synonyms":["acquired short bowel syndrome"," post-resection short bowel syndrome"," sbs - short bowel syndrome"," sgs - short gut syndrome"," short gut syndrome"," short intestine syndrome"],"tagsDiseaseCategory":["Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Gastroenterology"],"tagsCause":[]},{"id":1503,"name":"Short femur","encodedName":"short-femur","synonyms":["congenital hypoplasia of femur"," congenital short femur"," femoral agenesis/hypoplasia"," femoral hypoplasia"," femoral intercalary meromelia"," hypoplasia of the femora"," short femurs"," short thighbone"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":18868,"name":"Short fifth metacarpals-insulin resistance syndrome","encodedName":"short-fifth-metacarpals-insulin-resistance-syndrome","synonyms":["short fifth metacarpal insulin resistance syndrome"],"tagsDiseaseCategory":["Genetics","Endocrine"],"tagsAccount":[],"tagsSpecialist":["Genetics","Endocrine","Pediatrics"],"tagsCause":[]},{"id":16650,"name":"Short QT syndrome","encodedName":"short-qt-syndrome","synonyms":["familial short qt syndrome"," genetic short qt syndrome"," sqts"," ventricular arrhythmia associated with short qt syndrome"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"],"tagsCause":[]},{"id":4833,"name":"Short rib-polydactyly syndrome, Majewski type","encodedName":"short-rib-polydactyly-syndrome-majewski-type","synonyms":["short rib-polydactyly syndrome type 2"," srps, type ii"],"tagsDiseaseCategory":["Genetics","Pulmonology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pulmonology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4133,"name":"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans","encodedName":"short-stature-and-advanced-bone-age-with-or-without-early-onset-osteoarthritis-andor-osteochondritis-dissecans","synonyms":["familial osteochondritis dissecans"," od"," osteochondritis dissecans and short stature"," osteochondritis dissecans, short stature, and early-onset osteoarthritis"," ssoaod"],"tagsDiseaseCategory":["Genetics"],"tagsAccount":[],"tagsSpecialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":408,"name":"Short stature due to growth hormone qualitative anomaly","encodedName":"short-stature-due-to-growth-hormone-qualitative-anomaly","synonyms":["biodefective growth hormone"," kowarski syndrome"," pituitary 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Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":2605,"name":"Short stature-craniofacial anomalies-genital hypoplasia syndrome","encodedName":"short-stature-craniofacial-anomalies-genital-hypoplasia-syndrome","synonyms":["haspeslagh fryns muelenaere syndrome"," haspeslagh syndrome"," haspeslagh-fryns-muelenaere syndrome"," short stature with craniofacial anomalies and genital hypoplasia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":4739,"name":"Short stature-heart defect-craniofacial anomalies syndrome","encodedName":"short-stature-heart-defect-craniofacial-anomalies-syndrome","synonyms":["rommen-mueller-sybert syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":17419,"name":"Short stature-onychodysplasia-facial 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stroms"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Nephrology","Retinal"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Nephrology","Gastroenterology","Retinal","Anterior segment of Eye","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":17602,"name":"STT3A-congenital disorder of glycosylation","encodedName":"stt3a-congenital-disorder-of-glycosylation","synonyms":["cdg syndrome type iw"," cdg-iw"," cdg1w"," congenital disorder of glycosylation type 1w"," congenital disorder of glycosylation type iw"," congenital disorder of glycosylation, type iw, autosomal recessive"," stt3a-cdg"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17603,"name":"STT3B-congenital disorder of 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semialdehyde dehydrogenase deficiency"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4774,"name":"Succinyl-CoA acetoacetate transferase deficiency","encodedName":"succinyl-coa-acetoacetate-transferase-deficiency","synonyms":["3-ketoacid coa transferase deficiency"," 3-oxoacid coa transferase deficiency"," ketoacidosis due to scot deficiency"," oxct1 deficiency"," scot deficiency"," scotd"," succinyl coa:3-oxoacid coa transferase deficiency"," succinyl-coa 3-ketoacid transferase deficiency"," succinyl-coa:3-ketoacid coa transferase deficiency"," succinyl-coa:3-ketoacid coa-transferase deficiency"," succinyl-coa:3-oxoacid coa transferase deficiency"," succinyl-coenzyme a acetoacetate transferase deficiency"," thioacyl transferase deficiency"],"tagsDiseaseCategory":["Genetics","Inborn Errors of 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keratoconjunctivitis","encodedName":"superior-limbic-keratoconjunctivitis","synonyms":["slk"," slk - superior limbic keratoconjunctivitis"," superior limbal keratoconjunctivitis"," superior limbic keratitis"," theodore superior limbic keratoconjunctivitis"," theodore syndrome"," theodore's superior limbic keratoconjunctivitis"," theodore's syndrome"," theodores superior limbic keratoconjunctivitis"," theodores syndrome"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":["Ophthalmology","Anterior segment of Eye"],"tagsCause":[]},{"id":7712,"name":"Superior mesenteric artery syndrome","encodedName":"superior-mesenteric-artery-syndrome","spanishId":12871,"spanishName":"sindrome-de-la-arteria-mesenterica-superior","synonyms":["arteriomesenteric compression of third part of duodenum"," smas"," smas - superior mesenteric artery syndrome"," superior mesenteric artery syndromic disease"," syndromic disease of superior mesenteric artery"," wilkie syndrome"],"tagsDiseaseCategory":["Gastroenterology"],"tagsAccount":[],"tagsSpecialist":["Gastroenterology","Vascular Medicine"],"tagsCause":[]},{"id":743,"name":"Supravalvar aortic stenosis","encodedName":"supravalvar-aortic-stenosis","synonyms":["supra-valvular aortic stenosis"," supravalvar aortic stenosis, eisenberg type"," supravalvular aortic stenosis"," supravalvular aortic stenosis (disease)"," svas"," svas - supravalvar aortic stenosis"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Cardiology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":4594,"name":"Supravalvular pulmonary stenosis","encodedName":"supravalvular-pulmonary-stenosis","synonyms":["supravalvar pulmonary stenosis"," supravalvar pulmonnic stenosis"," supravalvular pulmonic stenosis"],"tagsDiseaseCategory":["Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Cardiology","Congenital Heart Disease","Vascular Medicine"],"tagsCause":[]},{"id":17126,"name":"Surfactant metabolism dysfunction, pulmonary, 1","encodedName":"surfactant-metabolism-dysfunction-pulmonary-1","synonyms":["interstitial lung disease due to sp-b dysfunction"," interstitial lung disease due to surfactant protein b deficiency"," interstitial lung disease, nonspecific, due to surfactant protein b deficiency"," neonatal acute respiratory distress due to sp-b deficiency"," neonatal acute respiratory distress due to surfactant protein b deficiency"," pulmonary alveolar proteinosis, congenital, 1"," pulmonary surfactant protein b, deficiency of"," smdp1"," surfactant metabolism dysfunction, pulmonary, type 1"],"tagsDiseaseCategory":["Genetics","Pulmonology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pulmonology","Pediatrics"],"tagsCause":[]},{"id":7713,"name":"Susac syndrome","encodedName":"susac-syndrome","synonyms":["red-m"," retinocochleocerebral vasculopathy"," retinopathy-encephalopathy-deafness associated with microangiopathy"," sicret syndrome"," small infarctions of cochlear, retinal and encephalic tissue"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":["Retinal"],"tagsSpecialist":["Neurology","Ophthalmology","Rheumatology","Retinal","Vascular Medicine","Pediatrics"],"tagsCause":[]},{"id":7716,"name":"Sydenham chorea","encodedName":"sydenham-chorea","synonyms":["chorea minor"," rheumatic chorea"," sydenham's chorea"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":[],"tagsSpecialist":["Neurology","Pediatrics"],"tagsCause":[]},{"id":1680,"name":"Symbrachydactyly of hands and feet","encodedName":"symbrachydactyly-of-hands-and-feet","synonyms":["de smet-fabry-fryns syndrome"," frints de smet fabry fryns syndrome"," symbrachydactyly of the hand and foot"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":334,"name":"Symmetrical dyschromatosis of extremities","encodedName":"symmetrical-dyschromatosis-of-extremities","synonyms":["acropigmentation of dohi"," dsh"," dsh1"," dyschromatosis symmetrica hereditaria"," dyschromatosis symmetrica hereditaria 1"," rad"," reticulate acropigmentation of dohi"," symmetric dyschromatosis of the extremities"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":5070,"name":"Symmetrical thalamic calcifications","encodedName":"symmetrical-thalamic-calcifications","synonyms":["bilateral symmetrical thalamic gliosis"," symmetrical thalamic calcification"],"tagsDiseaseCategory":["Neurology"],"tagsAccount":[],"tagsSpecialist":["Neurology","Pediatrics"],"tagsCause":[]},{"id":5077,"name":"Symphalangism with multiple anomalies of hands and feet","encodedName":"symphalangism-with-multiple-anomalies-of-hands-and-feet","synonyms":["learman syndrome"," symphalangism with multiple anomalies of hands and feet syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":21057,"name":"Symptomatic form of Coffin-Lowry syndrome in female carriers","encodedName":"symptomatic-form-of-coffin-lowry-syndrome-in-female-carriers","synonyms":["symptomatic form of coffin-lowry syndrome in female carrier"],"tagsDiseaseCategory":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Endocrine","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":20350,"name":"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","encodedName":"symptomatic-form-of-muscular-dystrophy-of-duchenne-and-becker-in-female-carriers","synonyms":["symptomatic form of muscular dystrophy of duchenne and becker in female carrier"],"tagsDiseaseCategory":["Genetics","Neurology","Muscular Dystrophy"],"tagsAccount":["Muscular Dystrophy","Cardiomyopathy"],"tagsSpecialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine"],"tagsCause":[]},{"id":5081,"name":"Syndactyly type 1","encodedName":"syndactyly-type-1","synonyms":["chromosome 2q35 duplication syndrome"," syndactyly, type 1, with or without craniosynostosis"," syndactyly, type i"," zygodactyly 2"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":5088,"name":"Syndactyly type 3","encodedName":"syndactyly-type-3","synonyms":["gja1 non-syndromic syndactyly"," non-syndromic syndactyly caused by mutation in gja1"," ring and little finger syndactyly"," sd3"," sdty3"," syndactyly of fingers 4 and 5"," syndactyly of fingers iv and v"," syndactyly, type iii"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":4434,"name":"Syndactyly type 4","encodedName":"syndactyly-type-4","synonyms":["haas type syndactyly"," lmbr1 non-syndromic syndactyly"," non-syndromic syndactyly caused by mutation in lmbr1"," polysyndactyly type haas"," polysyndactyly, haas type"," syndactyly, type iv"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":5089,"name":"Syndactyly type 5","encodedName":"syndactyly-type-5","synonyms":["postaxial syndactyly with metacarpal synostosis"," sd5"," syndactyly with associated metacarpal and metatarsal fusion"," syndactyly with metacarpal and metatarsal fusion"," syndactyly, type v"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":21201,"name":"Syndactyly type 6","encodedName":"syndactyly-type-6","synonyms":["mitten hand"," syndactyly mitten type"," syndactyly, mitten type"," unilateral syndactyly of digits 2-5"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics"],"tagsCause":[]},{"id":3559,"name":"Syndactyly type 8","encodedName":"syndactyly-type-8","synonyms":["fgf16 non-syndromic syndactyly"," fusion of metacarpal 4 and 5"," fusion of metacarpals 4 and 5"," metacarpal 4-5 fusion"," metacarpal 4-5 fusion, x-linked recessive"," metacarpals 4 and 5 fusion"," non-syndromic syndactyly caused by mutation in fgf16"," syndactyly of fingers type 8"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics"],"tagsCause":[]},{"id":17551,"name":"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome","encodedName":"syndactyly-camptodactyly-and-clinodactyly-of-fifth-fingers-bifid-toes-syndrome","synonyms":["camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome"," synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome"," synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome"," syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome"," wahab syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":5090,"name":"Syndactyly-polydactyly-ear lobe syndrome","encodedName":"syndactyly-polydactyly-ear-lobe-syndrome","synonyms":["spel syndrome"," syndactyly-polydactyly-earlobe syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":10295,"name":"Syndactyly-telecanthus-anogenital and renal malformations syndrome","encodedName":"syndactyly-telecanthus-anogenital-and-renal-malformations-syndrome","synonyms":["star"," star (syndactyly, telecanthus, anogenital, renal malformation) syndrome"," star syndrome"," star syndrome, x-linked dominant"," syndactyly with renal and anogenital malformations"," syndactyly, telecanthus, anogenital and renal malformation syndrome"," toe syndactyly, telecanthus, and anogenital and renal malformations"],"tagsDiseaseCategory":["Genetics","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Gastroenterology","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":22262,"name":"Syndromic congenital sodium 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Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":10775,"name":"Syndromic multisystem autoimmune disease due to ITCH deficiency","encodedName":"syndromic-multisystem-autoimmune-disease-due-to-itch-deficiency","synonyms":["autoimmune disease, multisystem, with facial dysmorphism"],"tagsDiseaseCategory":["Genetics","Pulmonology","Neurology","Gastroenterology","Congenital Abnormality"],"tagsAccount":["Primary Immune Deficiencies"],"tagsSpecialist":["Genetics","Pulmonology","Neurology","Rheumatology","Immunology","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16858,"name":"Syndromic orbital border hypoplasia","encodedName":"syndromic-orbital-border-hypoplasia","synonyms":["orbital margin, hypoplasia of"," urrets-zavalia syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Ophthalmology","Pediatrics"],"tagsCause":[]},{"id":17302,"name":"Syndromic recessive X-linked ichthyosis","encodedName":"syndromic-recessive-x-linked-ichthyosis","synonyms":["recessive x-linked ichthyosis with extracutaneous manifestations"," syndrome associated with recessive x-linked ichthyosis"," syndromic rxli"," syndromic x-linked ichthyosis"],"tagsDiseaseCategory":["Genetics","Dermatology"],"tagsAccount":["Dermatology","Ichthyosis"],"tagsSpecialist":["Genetics","Dermatology","Pediatrics"],"tagsCause":[]},{"id":16747,"name":"Syndromic X-linked intellectual disability 12","encodedName":"syndromic-x-linked-intellectual-disability-12","synonyms":["intellectual disability, x-linked, syndromic 12"," syndromic x-linked intellectual disability type 12"," x-linked intellectual disability, wilson type"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17326,"name":"Syndromic X-linked intellectual disability 17","encodedName":"syndromic-x-linked-intellectual-disability-17","synonyms":["intellectual disability-alacrima-achalasia syndrome"," intellectual disability, x-linked, syndromic 17"," mental retardation, x-linked, syndromic 17, x-linked recessive"," syndromic x-linked intellectual disability type 17"," x-linked intellectual disability with alacrima and achalasia"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":17832,"name":"Syndromic X-linked intellectual disability 34","encodedName":"syndromic-x-linked-intellectual-disability-34","synonyms":["intellectual developmental disorder, x-linked syndromic 34"," intellectual disability, x-linked, syndromic 34"," intellectual disability, x-linked, syndromic type 34"," macrocephaly-intellectual disability-left ventricular non compaction syndrome"," mrxs34"," mrxsml"," nono x-linked syndromic intellectual disability"," syndromic x-linked intellectual disability mircsof-langouet type"," syndromic x-linked intellectual disability type 34"," x-linked syndromic intellectual disability caused by mutation in nono"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9156,"name":"Syndromic X-linked intellectual disability 7","encodedName":"syndromic-x-linked-intellectual-disability-7","synonyms":["intellectual disability, x-linked syndromic 7"," mrxs7"," syndromic x-linked intellectual disability type 7"," x-linked intellectual disability ahmad type"," x-linked intellectual disability, ahmad type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities"],"tagsCause":[]},{"id":9157,"name":"Syndromic X-linked intellectual disability Abidi type","encodedName":"syndromic-x-linked-intellectual-disability-abidi-type","synonyms":["intellectual disability, x-linked syndromic, abidi type"," mrxsab"," x-linked intellectual disability, abidi type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16744,"name":"Syndromic X-linked intellectual disability Claes-Jensen type","encodedName":"syndromic-x-linked-intellectual-disability-claes-jensen-type","synonyms":["intellectual developmental disorder, x-linked syndromic, claes-jensen type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic 16"," intellectual developmental disorder, x-linked, syndromic, claes-jensen 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x-linked intellectual disability with epilepsy"," x-linked intellectual disability, hedera type"],"tagsDiseaseCategory":["Genetics","Neurology"],"tagsAccount":["Epilepsy"],"tagsSpecialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":9781,"name":"Syndromic X-linked intellectual disability Lubs type","encodedName":"syndromic-x-linked-intellectual-disability-lubs-type","spanishId":13553,"spanishName":"sindrome-de-duplicacion-de-mecp2","synonyms":["distal duplication xq"," intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic, lubs type"," intellectual disability, x-linked, syndromic, lubs type"," intellectual disability, x-linked, with recurrent respiratory infections"," lubs x-linked intellectual disability syndrome"," mecp2 duplication syndrome"," methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome"," methyl-cytosine phosphate guanine binding protein-2 duplication syndrome"," mrxsl"," proximal xq28 duplication syndrome"," telomeric duplication xq"," x-linked intellectual disability syndrome, lubs type"," x-linked intellectual disability-hypotonia-recurrent infections syndrome"," xq28 (mecp2) duplication"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Chromosomal Anomaly"],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":12669,"name":"Syndromic X-linked intellectual disability Najm type","encodedName":"syndromic-x-linked-intellectual-disability-najm-type","synonyms":["intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, x-linked dominant"," intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia"," intellectual disability and microcephaly with pontine and cerebellar hypoplasia"," intellectual disability, 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type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":4119,"name":"Syndromic X-linked intellectual disability Shashi type","encodedName":"syndromic-x-linked-intellectual-disability-shashi-type","synonyms":["intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic 11"," intellectual disability, x-linked, syndromic 11, shashi type"," mrxs11"," shashi x-linked intellectual disability syndrome"," smrxs"," syndromic x-linked intellectual disability type 11"," x-linked intellectual disability shashi type"," x-linked intellectual disability, shashi type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental 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x-linked intellectual disability siderius type"," x-linked intellectual disability, siderius type"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":5615,"name":"Syndromic X-linked intellectual disability Snyder type","encodedName":"syndromic-x-linked-intellectual-disability-snyder-type","synonyms":["intellectual developmental disorder, x-linked syndromic, snyder-robinson type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic, snyder-robinson type"," intellectual disability, x-linked, snyder-robinson type"," snyder-robinson intellectual disability syndrome"," snyder-robinson syndrome"," snyder-robinson x-linked mental retardation syndrome"," spermine synthase deficiency"," srs"," x-linked intellectual disability snyder type"," x-linked intellectual disability, snyder type"," x-linked mental retardation 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type 2 thanatophoric dysplasia"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":["Craniofacial Anomalies"],"tagsSpecialist":["Genetics","Orthopedics","Pediatrics"],"tagsCause":[]},{"id":2195,"name":"Thickened earlobes-conductive deafness syndrome","encodedName":"thickened-earlobes-conductive-deafness-syndrome","synonyms":["earlobes, thickened, with conductive deafness from incudostapedial abnormalities"," escher-hirt syndrome"," thickened earlobes-conductive hearing loss syndrome"],"tagsDiseaseCategory":["Genetics","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Otolaryngology","Pediatrics"],"tagsCause":[]},{"id":9275,"name":"Thiel-Behnke corneal dystrophy","encodedName":"thiel-behnke-corneal-dystrophy","synonyms":["anterior limiting membrane dystrophy type 2"," anterior limiting membrane dystrophy type ii"," cdb type ii-corneal dystrophy of bowman's membrane, type ii"," cdtb"," corneal dystrophy honeycomb shaped"," corneal dystrophy 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defect"],"tagsDiseaseCategory":["Genetics","Hematology"],"tagsAccount":[],"tagsSpecialist":["Genetics","Hematology","Pediatrics"],"tagsCause":[]},{"id":13041,"name":"Thrombophilia due to protein C deficiency, autosomal recessive","encodedName":"thrombophilia-due-to-protein-c-deficiency-autosomal-recessive","synonyms":["proc deficiency, autosomal recessive"," protein c deficiency, autosomal recessive"," thrombophilia 3 due to protein c deficiency, autosomal recessive"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":10815,"name":"Thrombophilia due to thrombin defect","encodedName":"thrombophilia-due-to-thrombin-defect","synonyms":["factor v r2 mutation thrombophilia"," prothrombin thrombophilia"," prothrombin-related thrombophilia"," prothrombin-related thrombophilia (factor ii)"," thph1"," thrombophilia 1 due to thrombin defect"," thrombophilia due to factor 2 defect"," thrombosis susceptibility"," venous thromboembolism, susceptibility to"," venous thrombosis, protection against"],"tagsDiseaseCategory":[],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":16659,"name":"Thrombotic thrombocytopenic purpura","encodedName":"thrombotic-thrombocytopenic-purpura","synonyms":["moschcowitz disease"," moschcowitz syndrome"," moschcowitz's syndrome"," moschkowitz disease"," moschowitz disease"," moschowitz syndrome"," moschowitz's syndrome"," ttp"," ttp - thrombotic thrombocytopenic purpura"],"tagsDiseaseCategory":["Nephrology","Hematology"],"tagsAccount":["Nephrology"],"tagsSpecialist":["Nephrology","Hematology","Pediatrics"],"tagsCause":[]},{"id":5199,"name":"Thumb deformity-alopecia-pigmentation anomaly syndrome","encodedName":"thumb-deformity-alopecia-pigmentation-anomaly-syndrome","synonyms":["sparse hair-short stature-skin anomalies syndrome"," sparse hair, short stature, skin anomalies syndrome"," thumb deformity and alopecia"," thumb deformity, alopecia, pigmentation anomaly 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tyrsn1"],"tagsDiseaseCategory":["Genetics","Neurology","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"tagsAccount":["Nephrology","Peripheral Neuropathy"],"tagsSpecialist":["Cancer - Oncologist","Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"tagsCause":[]},{"id":3105,"name":"Tyrosinemia type II","encodedName":"tyrosinemia-type-ii","synonyms":["deficiency of tyrosine aminotransferase"," hereditary hypertyrosinemia, type ii"," hypertyrosinemia, oregon type"," hypertyrosinemia, richner-hanhart type"," keratosis palmoplantaris with corneal dystrophy"," keratosis palmoplantaris-corneal dystrophy syndrome"," oculocutaneous tyrosinemia"," oregon type tyrosinemia"," persistent hypertyrosinemia"," richner syndrome"," richner-hanhart syndrome"," tat deficiency"," tat-gene related hypertyrosinemia richner hanhart type"," tyrosine aminotransferase deficiency"," tyrosine transaminase deficiency"," tyrosinemia due to tat deficiency"," tyrosinemia due to tyrosine aminotransferase deficiency"," tyrosinemia type 2"," tyrosinemia without hepatorenal dysfunction"," tyrsn2"],"tagsDiseaseCategory":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism"],"tagsAccount":["Dermatology"],"tagsSpecialist":["Genetics","Neurology","Ophthalmology","Dermatology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":10332,"name":"Tyrosinemia type III","encodedName":"tyrosinemia-type-iii","synonyms":["4-alpha hydroxyphenylpyruvate dioxygenase deficiency"," 4-alpha hydroxyphenylpyruvic acid oxidase deficiency"," 4-hydroxyphenylpyruvate dioxygenase deficiency"," 4-hydroxyphenylpyruvate hydroxylase deficiency"," 4-hydroxyphenylpyruvic acid oxidase deficiency"," hpd-gene related tyrosinemia type iii"," tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency"," tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency"," tyrosinemia due to hpd deficiency"," tyrosinemia type 3"],"tagsDiseaseCategory":["Genetics","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Pediatrics"],"tagsCause":[]},{"id":5392,"name":"UDPglucose-4-epimerase deficiency","encodedName":"udpglucose-4-epimerase-deficiency","synonyms":["epimerase deficiency"," epimerase deficiency galactosemia"," galactose epimerase deficiency"," galactosemia - epimerase deficiency"," galactosemia iii"," galactosemia type 3"," gale (udp-galactose-4-epimerase) deficiency"," gale deficiency"," gale-d"," udp (uridine diphosphate) galactose-4-epimerase deficiency"," udp (uridine diphosphate) glucose-4-epimerase deficiency"," udp-galactose-4-epimerase deficiency"," udpglucose 4-epimerase deficiency disease"," uridine diphosphate galactose-4 epimerase deficiency"," uridine diphosphate galactose-4-epimerase deficiency"," uridine diphosphate glucose-4-epimerase deficiency"],"tagsDiseaseCategory":["Genetics","Nephrology","Gastroenterology","Inborn Errors of 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urethra"," malignant tumour of urethra"," malignant urethra neoplasm"," malignant urethra tumor"," malignant urethra tumour"," malignant urethral neoplasm"," malignant urethral tumor"," malignant urethral tumour"," urethral ca"],"tagsDiseaseCategory":["Cancer"],"tagsAccount":[],"tagsSpecialist":[],"tagsCause":[]},{"id":11923,"name":"Urinary bladder small cell neuroendocrine carcinoma","encodedName":"urinary-bladder-small-cell-neuroendocrine-carcinoma","synonyms":["bladder small cell neuroendocrine cancer"," bladder small cell neuroendocrine carcinoma"," poorly differentiated neuroendocrine carcinoma of the bladder"," sccb"," small cell bladder cancer"," small cell bladder carcinoma"," small cell carcinoma of the bladder"," small cell carcinoma of the urinary bladder"," small cell carcinoma of urinary bladder"," small cell neuroendocrine carcinoma of bladder"," small cell neuroendocrine carcinoma of the urinary bladder"," small cell neuroendocrine carcinoma of urinary bladder"," small cell/neuroendocrine carcinoma of urinary bladder"," urinary bladder small cell carcinoma"],"tagsDiseaseCategory":["Cancer","Endocrine","Urogenital Disorders"],"tagsAccount":[],"tagsSpecialist":["Cancer - Oncologist","Endocrine","Urologist"],"tagsCause":[]},{"id":8539,"name":"Urocanate hydratase deficiency","encodedName":"urocanate-hydratase-deficiency","synonyms":["encephalopathy due to urocanase deficiency"," high urine urocanic acid levels"," urocanase deficiency"," urocanic aciduria"," urocanic aciduria (disease)"," urocd"],"tagsDiseaseCategory":["Genetics","Neurology","Inborn Errors of Metabolism"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Pediatrics"],"tagsCause":[]},{"id":7843,"name":"Usher syndrome","encodedName":"usher-syndrome","spanishId":13248,"spanishName":"sindrome-de-usher","synonyms":["retinitis pigmentosa-hearing loss syndrome"," ush"," usher syndromes"," usher's syndrome"],"tagsDiseaseCategory":["Genetics","Congenital 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zc4h2-associated rare disorders (zard)"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":["Congenital limb malformation"],"tagsSpecialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"tagsCause":[]},{"id":5565,"name":"Wiedemann-Steiner syndrome","encodedName":"wiedemann-steiner-syndrome","synonyms":["growth deficiency and mental retardation with facial dysmorphism"," hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"," hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome"," wdsts"," wiedemann steiner syndrome"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":5569,"name":"Wildervanck syndrome","encodedName":"wildervanck-syndrome","synonyms":["cervico-oculofacial syndrome"," 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dominant"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":16745,"name":"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome","encodedName":"x-linked-intellectual-disability-cubitus-valgus-dysmorphism-syndrome","synonyms":["cubitus valgus with mental retardation and unusual facies, x-linked recessive"],"tagsDiseaseCategory":["Genetics","Neurology","Congenital Abnormality"],"tagsAccount":[],"tagsSpecialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"tagsCause":[]},{"id":19054,"name":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","encodedName":"x-linked-intellectual-disability-epilepsy-progressive-joint-contractures-dysmorphism-syndrome","synonyms":["x-linked intellectual disability and epilepsy with progressive joint contracture and facial 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