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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With D

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* D ercole syndrome
* D trisomy syndrome (formerly) - See Trisomy 13
* D-2-alpha hydroxyglutaric aciduria
* D2HA - See D-2-alpha hydroxyglutaric aciduria
* DA 1 - See Arthrogryposis multiplex congenita distal type 1
* Da silva syndrome - See Agenesis of the corpus callosum
* DA2A - See Freeman Sheldon syndrome
* DA2B - See Arthrogryposis distal type 2B
* DA3 - See Gordon syndrome
* DA6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
* Dacryocystitis osteopoikilosis - See Osteopoikilosis and dacryocystitis
* Daentl Towsend Siegel syndrome
* Dahlberg Borer Newcomer syndrome
* Daish Hardman Lamont syndrome
* Dalmatian hypouricemia - See Renal hypouricemia
* Danbolt-Cross syndrome - See Acrodermatitis enteropathica
* Dancing eyes-dancing feet syndrome
* Dandy-Walker complex
* Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
* Dandy-Walker like malformation with atrioventricular septal defect
* Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis
* Dandy-Walker malformation with facial hemangioma
* Dandy-Walker malformation with mental retardation basal ganglia disease and seizures
* Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy
* Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
* Dandy-Walker malformation with postaxial polydactyly
* Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
* Dandy-Walker syndrome or malformation (type of DW complex) - See Dandy-Walker complex
* Dandy-Walker variant (type of DW complex) - See Dandy-Walker complex
* Dandy-Walker-like malformation with ASD - See Dandy-Walker like malformation with atrioventricular septal defect
* Daneman Davy Mancer syndrome
* Danks Mayne Kozlowski precocious osteodysplasty - See Osteodysplasty precocious of Danks Mayne and Kozlowski
* Danon disease
* Danubian endemic familial nephropathy - See Balkan endemic nephropathy
* Dappled metaphysis syndrome - See Spondyloepimetaphyseal dysplasia Strudwick type
* Darier disease
* Darier White Disease - See Darier disease
* Darier-Gottron disease - See Erythrokeratodermia variabilis et progressiva
* Darier's disease - See Darier disease
* Darrow-Gamble disease - See Congenital chloride diarrhea
* Dauwerse-Peters syndrome
* Davenport Donlan syndrome
* David syndrome - See Intellectual deficit unusual facies talipes hand anomalies
* Davidson disease - See Microvillus inclusion disease
* Davidson's disease - See Microvillus inclusion disease
* Davis Lafer syndrome
* Day blindness, familial - See Hemeralopia, familial
* DAZ - See Y chromosome infertility
* DBA - See Diamond-Blackfan anemia
* DBA2 - See Diamond-Blackfan anemia 2
* DBA3 - See Diamond-Blackfan anemia 3
* D-bifunctional enzyme deficiency - See D-bifunctional protein deficiency
* D-bifunctional protein deficiency
* DBP deficiency - See D-bifunctional protein deficiency
* DBQD - See Desbuquois syndrome
* DBS/FOAR syndrome - See Donnai-Barrow syndrome
* DC - See Subcortical band heterotopia
* DCCD - See Dermochondrocorneal dystrophy of François
* DCM - See Dilated cardiomyopathy
* DCML - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
* DCO - See Leri Weill dyschondrosteosis
* DCS - See Chanarin-Dorfman syndrome
* DcSSc - See Diffuse systemic sclerosis
* DD - See Diastrophic dysplasia
* DDC deficiency - See Aromatic amino acid decarboxylase deficiency
* DDD - See Dense deposit disease
* DDEB, generalized - See Generalized dominant dystrophic epidermolysis bullosa
* DDEB-gen - See Generalized dominant dystrophic epidermolysis bullosa
* DDON syndrome - See Mohr-Tranebjaerg syndrome
* DDP - See Mohr-Tranebjaerg syndrome
* DDRD - See Dyssegmental dysplasia Rolland-Desbuquois type
* DDS - See Mohr-Tranebjaerg syndrome
* DDSH - See Dyssegmental dysplasia Silverman-Handmaker type
* De Barsy syndrome
* De Hauwere-Leroy-Adriaenssens syndrome - See Iris dysplasia hypertelorism deafness
* De Lange syndrome - See Cornelia de Lange syndrome
* De morsier syndrome - See Septo-optic dysplasia
* De novo cryptogenic refractory multifocal febrile status epilepticus - See NORSE
* De Quervain's disease
* De Quervain's syndrome - See De Quervain's disease
* De Quervain's tendinitis - See De Quervain's disease
* De Quervains tenosynovitis - See De Quervain's disease
* De Sanctis-Cacchione syndrome
* De Toni-Fanconi syndrome - See Toni-Fanconi syndrome
* De Vivo disease - See Glucose transporter type 1 deficiency syndrome
* Deafness - nephritis - ano-rectal malformation - See Deafness nephritis anorectal malformation
* Deafness 3 conductive with stapes fixation - See Deafness, X-linked 2
* Deafness and ocular albinism - See Albinism ocular late onset sensorineural deafness
* Deafness and onychodystrophy, dominant form - See Robinson Miller Bensimon syndrome
* Deafness and pili torti, Bjornstad type - See Bjornstad syndrome
* Deafness conductive ptosis skeletal anomalies
* Deafness conductive stapedial ear malformation facial palsy
* Deafness conductive with stapes fixation - See Deafness, X-linked 2
* Deafness congenital with inner ear agenesis microtia and microdontia - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
* Deafness craniofacial syndrome
* Deafness dystonia syndrome - See Mohr-Tranebjaerg syndrome
* Deafness enamel hypoplasia nail defects
* Deafness goiter stippled epiphyses
* Deafness hyperuricemia neurologic ataxia
* Deafness hypogonadism syndrome
* Deafness hypospadias metacarpal and metatarsal syndrome
* Deafness mesenteric diverticula of small bowel neuropathy
* Deafness mixed with perilymphatic gusher - See Deafness, X-linked 2
* Deafness mixed with perilymphatic Gusher, X-linked
* Deafness nephritis anorectal malformation
* Deafness nonsyndromic, Connexin 26 linked - See DFNB1
* Deafness oligodontia syndrome
* Deafness onychodystrophy dominant form
* Deafness onychodystrophy osteodystrophy and mental retardation syndrome
* Deafness optic atrophy syndrome - See Konigsmark Knox Hussels syndrome
* Deafness peripheral neuropathy arterial disease
* Deafness progressive cataract autosomal dominant
* Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency - See Mohr-Tranebjaerg syndrome
* Deafness vitiligo achalasia - See Congenital deafness with vitiligo and achalasia
* Deafness with goiter - See Pendred syndrome
* Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
* Deafness with LAMM - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
* Deafness X-linked, DFN3
* Deafness, autosomal dominant nonsyndromic sensorineural 17
* Deafness, autosomal dominant nonsyndromic sensorineural 22
* Deafness, autosomal dominant nonsyndromic sensorineural 23
* Deafness, autosomal dominant nonsyndromic sensorineural 24
* Deafness, autosomal dominant nonsyndromic sensorineural 3
* Deafness, autosomal dominant nonsyndromic sensorineural 53
* Deafness, autosomal recessive 51
* Deafness, autosomal recessive 55
* Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction - See Chudley-Mccullough syndrome
* Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics - See Nathalie syndrome
* Deafness, congenital, and functional heart disease - See Jervell Lange-Nielsen syndrome
* Deafness, congenital, with keratopachydermia and constrictions of fingers and toes - See Vohwinkel syndrome
* Deafness, epiphyseal dysplasia, short stature
* Deafness, femoral epiphyseal dysplasia, short stature and developmental delay - See Deafness, epiphyseal dysplasia, short stature
* Deafness, isolated, due to mitochondrial transmission
* Deafness, myopia, cataract, saddle nose-Marshall type - See Marshall syndrome
* Deafness, neurosensory nonsyndromic recessive, DFN
* Deafness, neurosensory, autosomal recessive 47
* Deafness, progressive with stapes fixation
* Deafness, sensorineural with pituitary dwarfism - See Pituitary hormone deficiency, combined 3
* Deafness, sensorineural, with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome
* Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts - See Chudley-Mccullough syndrome
* Deafness, skeletal dysplasia, lip granuloma - See Fountain syndrome
* Deafness, X-linked 2
* Deafness, X-linked, DFN
* Deafness-dystonia-optic atrophy syndrome - See Mohr-Tranebjaerg syndrome
* Deafness-dystonia-optic neuronopathy (DDON) syndrome - See Mohr-Tranebjaerg syndrome
* Deafness-infertility syndrome
* Deafness-retinitis pigmentosa syndrome - See Usher syndrome
* Deafness-symphalangism syndrome of Herrmann - See Multiple synostoses syndrome 1
* Deal Barratt Dillon syndrome
* DEB - See Dystrophic epidermolysis bullosa
* Deciduous skin - See Peeling skin syndrome
* Deep gluteal syndrome - See Piriformis syndrome
* Deerfly fever - See Tularemia
* Defect in leucine metabolism - See HMG CoA lyase deficiency
* Defect of enterocyte intrinsic factor receptor - See Imerslund-Grasbeck syndrome
* Defective apolipoprotein B-100
* Deficiency of alpha-glucosidase - See Glycogen storage disease type 2
* Deficiency of C1 esterase inhibitor - See Hereditary angioedema
* Deficiency of GP 2B 3A complex - See Glanzmann thrombasthenia
* Deficiency of interleukin-1 receptor antagonist
* Deficiency of lysosomal alpha-glucosidase - See Glycogen storage disease type 2
* Deficiency of mitochondrial respiratory chain complex4 - See Mitochondrial complex IV deficiency
* Deficiency of platelet glycoprotein 1b - See Giant platelet syndrome
* Deficiency of the aminoacylase-1 enzyme - See Aminoacylase 1 deficiency
* Deficiency of vitamin C - See Scurvy
* DEFN - See Balkan endemic nephropathy
*   Degenerative disc disease - See Intervertebral disc disease
* Degner syndrome - See Orofaciodigital syndrome 13
* Degos disease
* Degos 'en cocarde' erythrokeratoderma
* Degos genodermatosis "en cocardes" - See Degos 'en cocarde' erythrokeratoderma
* Degos syndrome - See Degos disease
* Degos's malignant atrophic papulosis - See Degos disease
* Dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
* Dehydrated hereditary stomatocytosis
* Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
* Dejerine Roussy syndrome - See Central post-stroke pain
* Dejerine-Klumpke palsy - See Klumpke paralysis
* Dejerine-Sottas neuropathy - See Hypertrophic neuropathy of Dejerine-Sottas
* Dejerine-Sottas syndrome - See Hypertrophic neuropathy of Dejerine-Sottas
* Dekaban Arima syndrome - See Joubert syndrome with oculorenal anomalies
* Del Castillo syndrome - See Sertoli cell-only syndrome
* Del(1)(q44) - See 1q44 microdeletion syndrome
* Del(16)(p11.2) - See 16p11.2 deletion syndrome
* Del(16)(q24.3) - See 16q24.3 microdeletion syndrome
* Del(17)(q23.1q23.2) - See 17q23.1q23.2 microdeletion syndrome
* Del(18p) syndrome - See Chromosome 18p deletion syndrome
* Del(19)(p13.12) - See 19p13.12 microdeletion syndrome
* Del(2)(q23.1) - See 2q23.1 microdeletion syndrome
* Del(3p) syndrome - See 3p deletion syndrome
* Del(5)(q14.3) - See 5q14.3 microdeletion syndrome
* Delayed membranous cranial ossification
* Delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids - See Hooft disease
* Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases - See Mehes syndrome
* Deleted in azoospermia - See Y chromosome infertility
* Deletion 10p - See Chromosome 10p deletion
* Deletion 10q - See Chromosome 10q deletion
* Deletion 11p - See Chromosome 11p deletion
* Deletion 11q - See Chromosome 11q deletion
* Deletion 12p - See Chromosome 12p deletion
* Deletion 12q - See Chromosome 12q deletion
* Deletion 13q - See Chromosome 13q deletion
* Deletion 14q - See Chromosome 14q deletion
* Deletion 15q - See Chromosome 15q deletion
* Deletion 16p - See Chromosome 16p deletion
* Deletion 16q - See Chromosome 16q deletion
* Deletion 17p - See Chromosome 17p deletion
* Deletion 17q - See Chromosome 17q deletion
* Deletion 18p syndrome - See Chromosome 18p deletion syndrome
* Deletion 19p - See Chromosome 19p deletion
* Deletion 19q - See Chromosome 19q deletion
* Deletion 1p - See Chromosome 1p deletion
* Deletion 1q - See Chromosome 1q deletion
* Deletion 1q41-q42 - See Chromosome 1q41-q42 deletion syndrome
* Deletion 20p - See Chromosome 20p deletion
* Deletion 20q - See Chromosome 20q deletion
* Deletion 21q - See Chromosome 21q deletion
* Deletion 22q - See Chromosome 22q deletion
* Deletion 22q13.3 syndrome - See 22q13.3 deletion syndrome
* Deletion 2p - See Chromosome 2p deletion
* Deletion 2q - See Chromosome 2q deletion
* Deletion 2q24 - See Chromosome 2q24 microdeletion syndrome
* Deletion 3p - See Chromosome 3p deletion
* Deletion 3p25 - See 3p deletion syndrome
* Deletion 3q - See Chromosome 3q deletion
* Deletion 4p - See Chromosome 4p deletion
* Deletion 4q - See Chromosome 4q deletion
* Deletion 5p - See Chromosome 5p deletion
* Deletion 5q - See Chromosome 5q deletion
* Deletion 6p - See Chromosome 6p deletion
* Deletion 6q - See Chromosome 6q deletion
* Deletion 6q25 - See Chromosome 6q25 microdeletion syndrome
* Deletion 7p - See Chromosome 7p deletion
* Deletion 7q - See Chromosome 7q deletion
* Deletion 8p - See Chromosome 8p deletion
* Deletion 8p23.1 - See Chromosome 8p23.1 deletion
* Deletion 8q - See Chromosome 8q deletion
* Deletion 8q24.1 - See Trichorhinophalangeal syndrome type 2
* Deletion 9p - See Chromosome 9p deletion
* Deletion 9q - See Chromosome 9q deletion
* Deletion of chromosome 11p11.2 - See Potocki-Shaffer syndrome
* Delleman Oorthuys syndrome - See Oculocerebrocutaneous syndrome
* Delleman syndrome - See Oculocerebrocutaneous syndrome
* Delta storage pool disease - See Hermansky-Pudlak syndrome
* Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
* Delta-sarcoglycanopathy
* Dementia familial British
* Dementia multi-infarct - See Binswanger's disease
* Dementia with lobar atrophy and neuronal cytoplasmic inclusions - See Pick's disease
* Dementia, familial Danish
* Dementia, frontotemporal, with parkinsonism - See Frontotemporal dementia
* Dementia, hereditary dysphasic disinhibition - See Frontotemporal dementia, ubiquitin-positive
* Dementia, hereditary multi-infarct type - See CADASIL
* Dementia, prefrontal, with bone cysts - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Dementia, progressive, with lipomembranous polycystic osteodysplasia - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Demodicidosis
* Dendritic cell neoplasm - See Dendritic cell tumor
* Dendritic cell tumor
* Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
* Dengue fever
* Dengue hemorrhagic fever - See Dengue fever
* Dengue shock syndrome - See Dengue fever
* Dennis Fairhurst Moore syndrome
* Dens in dente and palatal invaginations
* Dense deposit disease
* Dent disease 1
* Dent disease 2
* Dental ankylosis - See Ankylosis of teeth
* Dentatorubral-pallidoluysian atrophy
* Dentatorubropallidoluysian atrophy - See Dentatorubral-pallidoluysian atrophy
* Dentin dyspalsia, Shields type 2 - See Dentin dysplasia, coronal
* Dentin dysplasia sclerotic bones
* Dentin dysplasia, coronal
* Dentin dysplasia, type 1
* Dentinogenesis imperfecta 1
* Dentinogenesis imperfecta Shields type 2 - See Dentinogenesis imperfecta 1
* Dentinogenesis imperfecta Shields type 3
* Dentinogenesis imperfecta type 1 - See Dentinogenesis imperfecta 1
* Dentinogenesis imperfecta type III - See Dentinogenesis imperfecta Shields type 3
* Dentinogenesis imperfecta without osteogenesis imperfecta - See Dentinogenesis imperfecta 1
* Dentoleukoencephalopathy - See Leukodystrophy with oligodontia
* Dentoleukoencephalopathy, autosomal recessive - See Leukodystrophy with oligodontia
* Denys-Drash syndrome
* Depersonalization disorder
* Deposition of barium in the lungs - See Baritosis
* Der kaloustian Jarudi Khoury syndrome - See Spinocerebellar degeneration and corneal dystrophy
* Der Kaloustian Mcintosh Silver syndrome
* Dercum disease - See Adiposis dolorosa
* Dercum's disease - See Adiposis dolorosa
* Dermal and ocular lesions, irregular menstrual cycles and altered immune responses - See Yusho Disease
* Dermal eccrine cylindroma
* Dermal necrotizing angiitis - See Cutaneous necrotizing vasculitis
* Dermal Ridges - See Nelson syndrome
* Dermatan sulfate proteoglycan - See Ehlers-Danlos syndrome progeroid type
* Dermatitis herpetiformis - See Duhring Brocq disease
* Dermatitis herpetiformis familial
* Dermatocardioskeletal syndrome Boronne type
* Dermatofibroma
* Dermatofibrosarcoma protuberans
* Dermatofibrosis lenticularis disseminata with osteopoikilosis - See Buschke Ollendorff syndrome
* Dermatofibrosis, disseminated with osteopoikilosis - See Buschke Ollendorff syndrome
* Dermatographia - See Familial dermographism
* Dermatoleukodystrophy
* Dermatomyositis
* Dermatomyositis sine myositis - See Amyopathic dermatomyositis
* Dermatoosteolysis Kirghizian type
* Dermatoosteopoikilosis - See Buschke Ollendorff syndrome
* Dermatopathia pigmentosa reticularis
* Dermatosparaxis - See Ehlers-Danlos syndrome dermatosparaxis type
* Dermatostomatitis, erythema multiforme type - See Erythema multiforme
* Dermochondrocorneal dystrophy - See Dermochondrocorneal dystrophy of François
* Dermochondrocorneal dystrophy of François
* Dermo-distortive urticaria - See Familial dermographism
* Dermographism - See Familial dermographism
* Dermoid cysts, hypothyroidism, cleft palate and hypodontia - See Zadik Barak Levin syndrome
* Dermoids of cornea
* Dermolytic epidermolysis bullosa - See Dystrophic epidermolysis bullosa
* Dermoodontodysplasia
* Dermo-odonto-dysplasia - See Dermoodontodysplasia
* DES - See Dysequilibrium syndrome
* Desbuquois dysplasia - See Desbuquois syndrome
* Desbuquois syndrome
* DESC syndrome - See Febrile infection-related epilepsy syndrome
* Desiccytosis hereditary - See Dehydrated hereditary stomatocytosis
* Desmin related myopathy (former name) - See Myofibrillar myopathy
* Desmin storage myopathy (former name) - See Myofibrillar myopathy
* Desminopathy (type) - See Myofibrillar myopathy
* Desmin-related myopathies with Mallory bodies - See Rigid spine syndrome
* Desmoid disease, hereditary
* Desmoid tumor
* Desmons syndrome - See Ichthyosiform erythroderma, corneal involvement, deafness
* Desmoplastic infantile astrocytoma
* Desmoplastic infantile ganglioglioma
* Desmoplastic small round cell tumor
* Desmoplastic small round-cell tumor - See Desmoplastic small round cell tumor
* Desmosterolosis
* Desquamation of newborn - See Ichthyosis lamellar 1
* DeVaal disease - See Reticular dysgenesis
* Devastating epileptic encephalopathy in school-aged children - See Febrile infection-related epilepsy syndrome
* Developmental delay - hypotonia - extremities hypertrophy - See Grubben de Cock Borghgraef syndrome
* Developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure - See Megarbane Jalkh syndrome
* Developmental dysphasia familial
*   Developmental dysplasia of hip
* Developmental Gerstmann syndrome - See Gerstmann syndrome
* Developmental language disorder - See Developmental dysphasia familial
* Devic disease
* Devic syndrome - See Devic disease
* Devic's neuromyelitis optica - See Devic disease
* Devriendt syndrome
* Dew itch - See Cutaneous larva migrans
* Dexamethasone sensitive hypertension - See Glucocorticoid-remediable aldosteronism
* Dextrocardia
* Dextrocardia bronchiectasis and sinusitis - See Kartagener syndrome
* Dextrocardia with situs inversus
* Dextrocardia with unusual facies and microphthalmia
* Dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation - See Dextrocardia with unusual facies and microphthalmia
* Dextro-looped transposition of the great arteries - See Transposition of the great arteries
* Dfn 3 nonsyndromic hearing loss and deafness - See Deafness, X-linked 2
* DFN3 - See Deafness, X-linked 2
* DFNA 22 - See Deafness, autosomal dominant nonsyndromic sensorineural 22
* DFNA 23 - See Deafness, autosomal dominant nonsyndromic sensorineural 23
* DFNA 24 - See Deafness, autosomal dominant nonsyndromic sensorineural 24
* DFNA17 - See Deafness, autosomal dominant nonsyndromic sensorineural 17
* DFNA3 - See Deafness, autosomal dominant nonsyndromic sensorineural 3
* DFNA53 - See Deafness, autosomal dominant nonsyndromic sensorineural 53
* DFNB1
* DFNB47 - See Deafness, neurosensory, autosomal recessive 47
* DFNB51 - See Deafness, autosomal recessive 51
* DFNB55 - See Deafness, autosomal recessive 55
* DFNX2 - See Deafness, X-linked 2
* DFSP - See Dermatofibrosarcoma protuberans
* D-glycerate dehydrogenase deficiency - See Primary hyperoxaluria type 2
* D-Glycerate kinase deficiency - See D-glycericacidemia
* D-glycericacidemia
* DHAPAT deficiency - See Rhizomelic chondrodysplasia punctata type 2
* DHD - See Doyne honeycomb retinal dystrophy
* DHFR deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
* DHOF - See Focal dermal hypoplasia
* DHPR deficiency - See Dihydropteridine reductase deficiency
* DHRD - See Doyne honeycomb retinal dystrophy
* DHTR deficiency - See Androgen insensitivity syndrome
* Di Guglielmo syndrome - See Acute erythroid leukemia
* Di Guglielmo's syndrome
* DIA - See Desmoplastic infantile astrocytoma
* Diabetes and deafness, maternally inherited - See Maternally inherited diabetes and deafness
* Diabetes and pancreatic exocrine dysfunction - See Maturity-onset diabetes of the young, type 8
* Diabetes hypogonadism deafness mental retardation
* Diabetes in bearded women - See Achard Thiers syndrome
* Diabetes insipidus and mellitus with optic atrophy and deafness - See Wolfram syndrome
* Diabetes insipidus cranial type - See Neurogenic diabetes insipidus
* Diabetes insipidus gestational - See Gestational diabetes insipidus
* Diabetes insipidus nephrogenic - See Nephrogenic diabetes insipidus
* Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
* Diabetes insipidus nephrogenic type 1 - See Nephrogenic diabetes insipidus
* Diabetes insipidus nephrogenic X-linked - See Nephrogenic diabetes insipidus
* Diabetes insipidus neurogenic - See Neurogenic diabetes insipidus
* Diabetes insipidus neurohypophyseal - See Neurogenic diabetes insipidus
* Diabetes mellitus MODY type 1 - See Maturity-onset diabetes of the young, type 1
* Diabetes mellitus MODY type 2 - See Maturity-onset diabetes of the young, type 2
* Diabetes mellitus MODY type 3 - See Maturity-onset diabetes of the young, type 3
* Diabetes mellitus MODY type 4 - See Maturity-onset diabetes of the young, type 4
* Diabetes mellitus MODY type 6 - See Maturity-onset diabetes of the young, type 6
* Diabetes mellitus MODY type 7 - See Maturity-onset diabetes of the young, type 7
* Diabetes mellitus MODY type 8 - See Maturity-onset diabetes of the young, type 8
* Diabetes mellitus MODY type 9 - See Maturity-onset diabetes of the young, type 9
*   Diabetes mellitus type 1
* Diabetes mellitus type II with deafness - See Maternally inherited diabetes and deafness
* Diabetes mellitus, 6q24-related transient neonatal - See Transient neonatal diabetes mellitus
* Diabetes mellitus, Addison's disease, myxedema - See Autoimmune polyglandular syndrome type 2
*   Diabetes mellitus, insulin dependent - See Diabetes mellitus type 1
* Diabetes mellitus, transient neonatal - See Transient neonatal diabetes mellitus
* Diabetes persistent mullerian ducts
* Diabetes-deafness syndrome, maternally transmitted - See Maternally inherited diabetes and deafness
* Diabetes-pancreatic exocrine dysfunction syndrome - See Maturity-onset diabetes of the young, type 8
* Diabetic fibrous breast disease - See Diabetic mastopathy
* Diabetic fibrous mastopathy - See Diabetic mastopathy
* Diabetic mastopathy
* Diabetic-bearded woman syndrome - See Achard Thiers syndrome
* Diacyclothrombopathia 2B 3A - See Glanzmann thrombasthenia
* Dialysis-related amyloidosis - See Amyloidosis Beta2M
* Diamond-Blackfan anemia
* Diamond-Blackfan anemia 2
* Diamond-Blackfan anemia 3
* Dianzani autoimmune lymphoproliferative syndrome
* Dianzani form of autoimmune lymphoproliferative disease - See Dianzani autoimmune lymphoproliferative syndrome
* Diaphorase deficiency - See NADH cytochrome B5 reductase deficiency
* Diaphragmatic agenesis radial aplasia omphalocele
* Diaphragmatic defect limb deficiency skull defect - See Froster-Huch syndrome
* Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria - See Donnai-Barrow syndrome
* Diaphragmatic hernia exomphalos corpus callosum agenesis
* Diaphragmatic hernia upper limb defects
* Diaphragmatic hernia, abnormal face, and distal limb anomalies - See Fryns syndrome
* Diaphyseal dysplasia 1, progressive - See Camurati-Engelmann disease
* Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* Diaphyseal sclerosis, multiple - See Ribbing disease
* DIAR1 - See Congenital chloride diarrhea
* Diarrhea 1, secretory chloride, congenital - See Congenital chloride diarrhea
* Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* Diastematomyelia - See Split cord malformation
* Diastrophic dwarfism - See Diastrophic dysplasia
* Diastrophic dysplasia
* Dibasic aminoaciduria 1
* Dibasic aminoaciduria 2
* Dibasicamino aciduria II - See Lysinuric protein intolerance
* Dicarboxylic aminoaciduria
* Dicarboxylicaminoaciduria - See Dicarboxylic aminoaciduria
* DICER1 syndrome - See DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
* DICER1-related pleuropulmonary blastoma - See DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
* DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
* Dichuchwa - See Bejel
* DIDMOAD - See Wolfram syndrome
* DIDMOAD syndrome - See Wolfram syndrome
* Die Smulders Droog Van Dijk syndrome
* Die Smulders Vles Fryns syndrome
* Diencephalic syndrome
* Dienoyl-CoA reductase deficiency - See 2,4-Dienoyl-CoA reductase deficiency
* Dietary fructose intolerance - See Acquired fructose intolerance
* Dieterich disease - See Dieterich's disease
* Dieterich's disease
* Diethylstilbestrol antenatal infection
* Dieulafoy disease - See Dieulafoy lesion
* Dieulafoy lesion
* Dieulafoy's lesion - See Dieulafoy lesion
*   Diffuse alopecia - See Alopecia areata
* Diffuse astrocytoma
* Diffuse cavernous hemangioma of the rectum
* Diffuse cerebral degeneration in infancy - See Alpers syndrome
* Diffuse cerebral sclerosis of Schilder - See Balo's concentric sclerosis
* Diffuse cutaneous mastocytosis - See Cutaneous mastocytosis
* Diffuse cutaneous systemic scleroderma - See Diffuse scleroderma
* Diffuse cutaneous systemic sclerosis - See Diffuse systemic sclerosis
* Diffuse cystic renal dysplasia - See Renal dysplasia diffuse cystic
* Diffuse dermal angiomatosis
* Diffuse gastric cancer
* Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
*   Diffuse idiopathic skeletal hyperostosis
* Diffuse isolated mesangial sclerosis - See Diffuse mesangial sclerosis
* Diffuse leiomyomatosis in Alport syndrome - See Leiomyomatosis, esophageal and vulval, with nephropathy
* Diffuse Lewy body disease - See Lewy body dementia
* Diffuse mesangial sclerosis
* Diffuse neonatal hemangiomatosis
* Diffuse NEPPK - See Unna-Thost palmoplantar keratoderma
* Diffuse nonepidermolytic palmoplantar keratoderma - See Unna-Thost palmoplantar keratoderma
* Diffuse palmoplantar keratoderma with deafness (subtype) - See Keratoderma palmoplantar deafness
* Diffuse palmoplantar keratoderma, Bothnian type
* Diffuse panbronchiolitis
* Diffuse pigmented villonodular synovitis - See Pigmented villonodular synovitis
* Diffuse scleroderma
* Diffuse systemic sclerosis
* DIG - See Desmoplastic infantile ganglioglioma
* DiGeorge syndrome - See 22q11.2 deletion syndrome
* Digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a - See Vascular hyalinosis
* Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum - See Feingold syndrome
* Digitate dermatosis - See Parapsoriasis
* Digitorenocerebral syndrome
* Digitotalar dysmorphism - See Sallis Beighton syndrome
* Dihydrofolate reductase deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
* Dihydropteridine reductase deficiency
* Dihydropyrimidine dehydrogenase deficiency
* Dihydrotestosterone receptor deficiency - See Androgen insensitivity syndrome
* Dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata type 2
* Dihydroxyadeninuria
* Dilantin Embryopathy - See Fetal hydantoin syndrome
* Dilated cardiomyopathy
* Dilated cardiomyopathy with hypergonadotropic hypogonadism
* Dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
*   Dilutional hyponatremia - See Syndrome of inappropriate antidiuretic hormone
* Dimyelia - See Split cord malformation
* Dincsoy syndrome - See Dincsoy-Salih-Patel syndrome
* Dincsoy-Salih-Patel syndrome
* Dinno Shearer Weisskopf syndrome - See Pseudomarfanism
* Diomedi Bernardi Placidi syndrome
* Dionisi Vici Sabetta Gambarara syndrome - See Vici syndrome
* Dipetalonema infections - See Acanthocheilonemiasis
* Dipetalonemiasis - See Acanthocheilonemiasis
* Diphallia
* Diphallus - See Diphallia
* Diphallus rachischisis imperforate anus
* Diphosphoglycerate mutase deficiency of erythrocyte
* Diphtheria
* Diploid/triploid mixoploidy - See Diploid-triploid mosaicism
* Diploid/triploid mosaicism - See Diploid-triploid mosaicism
* Diploid-triploid mosaicism
* Diplomyelia - See Split cord malformation
* DIPNECH - See Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
* Diprosopia
* Dipsogenic diabetes insipidus
* DIRA - See Deficiency of interleukin-1 receptor antagonist
* Dirofilariasis
* Disaccharide intolerance, 1 - See Congenital sucrase-isomaltase deficiency
* DiSala syndrome - See Warfarin syndrome
*   Discoid lupus - See Lupus
* Disembarkment syndrome - See Mal de debarquement
*   DISH - See Diffuse idiopathic skeletal hyperostosis
*   DISH Forestier's disease - See Diffuse idiopathic skeletal hyperostosis
* Dislocation of the hip dysmorphism - See Collins Pope syndrome
* Disorder of cornification 11 (phytanic acid type) - See Refsum disease
* Disorder of cornification 12 (neutral lipid storage type) - See Chanarin-Dorfman syndrome
* Disorder of isoleucine metabolism - See Tiglic acidemia
* Disorder of sex development intellectual disability - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
* Disorder of valine metabolism - See 3-Hydroxyisobutyric aciduria
*   Disorders of peroxisomal beta-oxidation - See Peroxisome disorders
* Displaced spleen - See Wandering spleen
* Dissecting cellulitis of the scalp
* Disseminated aseptic abscesses - See Corticosteroid-sensitive aseptic abscesses
* Disseminated infection with mycobacterium avium complex
*   Disseminated lupus erythematosus - See Lupus
* Disseminated nonossifying fibromas in association with cafe-au-lait spots - See Fibromatosis multiple non ossifying
* Disseminated sebocystomatosis - See Sebocystomatosis
* Disseminated superficial actinic porokeratosis
* Disseminated superficial actinic porokeratosis 2 - See Porokeratosis, disseminated superficial actinic 2
* Distal 17p13.1 microdeletion syndrome - See Chromosome 17p13.1 deletion syndrome
* Distal 18q- - See Distal chromosome 18q deletion syndrome
* Distal 18q deletion - See Distal chromosome 18q deletion syndrome
* Distal 18q deletion syndrome - See Distal chromosome 18q deletion syndrome
* Distal arthrogryposis Moore Weaver type
* Distal arthrogryposis type 1 - See Arthrogryposis multiplex congenita distal type 1
* Distal arthrogryposis type 3 - See Gordon syndrome
* Distal arthrogryposis type 5
* Distal arthrogryposis type 7 - See Trismus-pseudocamptodactyly syndrome
* Distal arthrogryposis type IIB - See Distal arthrogryposis type 5
* Distal arthrogryposis, type 2 - See Arthrogryposis multiplex congenita, distal type 2
* Distal chromosome 18q deletion syndrome
* Distal Del(17)(p13.1) - See Chromosome 17p13.1 deletion syndrome
* Distal deletion 4p - See Wolf-Hirschhorn syndrome
* Distal monosomy 17q - See Chromosome 17q deletion
* Distal myopathy 2 - See Distal myopathy with vocal cord weakness
* Distal myopathy Markesbery-Griggs type
* Distal myopathy with rimmed vacuoles - See Inclusion body myopathy 2
* Distal myopathy with vocal cord weakness
* Distal myopathy, Swedish type - See Welander distal myopathy, Swedish type
* Distal primary acidosis, familial
* Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch - See Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
* Distichiasis heart congenital anomalies
* Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development - See Sotos syndrome
* Distomatosis
* Disturbance of oral sensitivity - See Impairment of oral perception
* DJS - See Dubin-Johnson syndrome
* DK phocomelia syndrome
* DKC - See Dyskeratosis congenita
* DKCA - See Dyskeratosis congenita autosomal dominant
* DKCB - See Dyskeratosis congenita autosomal recessive
* DKCX - See Dyskeratosis congenita X-linked
* DL-ATS - See Leiomyomatosis, esophageal and vulval, with nephropathy
* DLB - See Lewy body dementia
* DM1 - See Myotonic dystrophy type 1
* DM2 - See Myotonic dystrophy type 2
* DMAC - See Disseminated infection with mycobacterium avium complex
* DMC syndrome - See Dyggve-Melchior-Clausen syndrome
* DMD - See Duchenne muscular dystrophy
* DMDA - See Limb-girdle muscular dystrophy, type 2C
* DMDA1 - See Limb-girdle muscular dystrophy, type 2C
* DMDA2 - See Limb-girdle muscular dystrophy, type 2D
* D-minus hemolytic uremic syndrome (D-HUS)
* DMRV - See Inclusion body myopathy 2
* DMS - See Diffuse mesangial sclerosis
* DMSD - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* DMSMFH - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* DMTN - See Transient neonatal diabetes mellitus
* DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - See Hereditary sensory neuropathy type IE
* DOA - See Dominant optic atrophy
* Dobrow syndrome
* Doc 11 (phytanic acid type) - See Refsum disease
* DOCK8 deficiency - See Autosomal recessive hyper IgE syndrome
* Dolichospondylic dysplasia - See 3M syndrome
* Dominant ano-rectal malformation, nephritis and nerve-deafness - See Deafness nephritis anorectal malformation
* Dominant carpotarsal osteochondromatosis - See Carpotarsal osteochondromatosis
* Dominant cleft palate
* Dominant congenital deafness and progressive optic nerve atrophy - See Konigsmark Knox Hussels syndrome
* Dominant dystrophic epidermolysis bullosa, generalized - See Generalized dominant dystrophic epidermolysis bullosa
* Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis - See Davenport Donlan syndrome
* Dominant ichthyosis vulgaris
* Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis - See Mesomelia-synostoses syndrome
* Dominant optic atrophy
* Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy - See Treft Sanborn Carey syndrome
* Dominant preaxial brachydactyly with hallux varus and thumb abduction - See Brachydactyly preaxial with hallux varus and thumb abduction
* Dominantly inherited blepharoptosis, high myopia, and ectopia lentis - See Blepharoptosis myopia ectopia lentis
* Dominantly inherited bone dysplasia with severe eye involvement - See Verloes Van Maldergem Marneffe syndrome
* Dominantly inherited craniodiaphyseal dysplasia - See Schaefer Stein Oshman syndrome
* Dominantly inherited keratitis - See Keratitis, hereditary
* Dominantly inherited ptosis, strabismus and ectopic pupils - See McPherson Robertson Cammarano syndrome
* Donnai-Barrow syndrome
* Donohue syndrome - See Leprechaunism
* Donovanosis - See Granuloma Inguinale
* DOOR syndrome - See Deafness onychodystrophy osteodystrophy and mental retardation syndrome
* Doose syndrome - See Myoclonic astatic epilepsy
* Dopa decarboxylase deficiency - See Aromatic amino acid decarboxylase deficiency
* DOPA responsive dystonia, autosomal recessive - See Segawa syndrome, autosomal recessive
* Dopamine beta hydroxylase deficiency
* Dopamine beta-hydroxylase deficiency, congenital - See Dopamine beta hydroxylase deficiency
* Dopa-responsive dystonia, autosomal dominant - See Dystonia 5, Dopa-responsive type
* Dorfman Chanarin syndrome - See Chanarin-Dorfman syndrome
* Dosage-sensitive sex reversal
* Double cortex - See Subcortical band heterotopia
* Double cortex syndrome - See Subcortical band heterotopia
* Double discordia
* Double fingernail of fifth finger
*   Double inferior vena cava
*   Double IVC - See Double inferior vena cava
* Double nails on the fifth toe
* Double outlet left ventricle
* Double outlet right ventricle
* Double tachycardia induced by catecholamines - See Catecholaminergic polymorphic ventricular tachycardia
* Double tooth - See Fused mandibular incisors
* Double upper lip, blepharochalasis and enlargement of the thyroid - See Ascher's Syndrome
* Double uterus-hemivagina-renal agenesis
* Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype - See Meacham Winn Culler syndrome
* Dowling-Degos disease
* Dowling-Degos Kitamura disease - See Dowling-Degos disease
* Dowling-Meara type epidermolysis bullosa simplex - See Epidermolysis bullosa simplex, Dowling-Meara type
*   Down syndrome
*   Down's syndrome - See Down syndrome
* Doxorubicin induced cardiomyopathy
* Doyne honeycomb degeneration of retina - See Doyne honeycomb retinal dystrophy
* Doyne honeycomb retinal dystrophy
* DPD deficiency - See Dihydropyrimidine dehydrogenase deficiency
* DPD1 - See Camurati-Engelmann disease
* DPED - See Maturity-onset diabetes of the young, type 8
* D-plus hemolytic uremic syndrome (D+HUS)
* DPR - See Dermatopathia pigmentosa reticularis
* DR syndrome - See Duane-radial ray syndrome
* DRA - See Amyloidosis Beta2M
* Drachtman Weinblatt Sitarz syndrome
* Dracunculiasis
* Drash syndrome - See Denys-Drash syndrome
* Dravet syndrome
* DRD - See Dystonia 5, Dopa-responsive type
* Drifting spleen - See Wandering spleen
* DRPLA - See Dentatorubral-pallidoluysian atrophy
* DRRS - See Duane-radial ray syndrome
* DRS - See Duane syndrome
*   Drug induced dyskinesia
* Drug-induced gigantomastia (subtype) - See Gigantomastia
*   Dry eye syndrome - See Keratoconjunctivitis sicca
* Dry skin, photophobia hyperkeratosis, abnormal fingernails - See Judge Misch Wright syndrome
* DSAP - See Disseminated superficial actinic porokeratosis
* DSAP1 - See Porokeratosis, disseminated superficial actinic 1
* DSAP2 - See Porokeratosis, disseminated superficial actinic 2
* DSH - See Dyschromatosis symmetrica hereditaria 1
* DSH1 - See Dyschromatosis symmetrica hereditaria 1
* DSMA1 - See Spinal muscular atrophy with respiratory distress 1
* DSN - See Hypertrophic neuropathy of Dejerine-Sottas
* DSRCT - See Desmoplastic small round cell tumor
* DSS - See Hypertrophic neuropathy of Dejerine-Sottas
* DSS - See Dosage-sensitive sex reversal
* DTD - See Diastrophic dysplasia
* DTDP2 - See Dentin dysplasia, coronal
* DTGA - See Transposition of the great arteries
* Du pan syndrome - See Fibular hypoplasia and complex brachydactyly
* Duane anomaly - See Duane syndrome
* Duane anomaly mental retardation
* Duane anomaly with radial abnormalities and deafness - See Duane-radial ray syndrome
* Duane retraction syndrome - See Duane syndrome
* Duane retraction syndrome 1 - See Duane syndrome type 1
* Duane retraction syndrome 2 - See Duane syndrome type 2
* Duane retraction syndrome 3 - See Duane syndrome type 3
* Duane syndrome
* Duane syndrome type 1
* Duane syndrome type 2
* Duane syndrome type 3
* Duane-radial ray syndrome
* Dubin-Johnson syndrome
* Dubowitz syndrome
* Duchenne muscular dystrophy
* Duchenne-like autosomal recessive muscular dystrophy, type 2 - See Limb-girdle muscular dystrophy, type 2D
* Duchenne-like muscular dystrophy, autosomal recessive, type 1 - See Limb-girdle muscular dystrophy, type 2C
* DUH - See Dyschromatosis universalis hereditaria
* Duhring Brocq disease
* Duhring's disease - See Duhring Brocq disease
* Duker Weiss Siber syndrome
* Duncan disease - See X-linked lymphoproliferative syndrome
* Duodenal atresia
* Duodenal atresia tetralogy of Fallot
* Duodenal carcinoid syndrome - See Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
* Duodenal stenosis - See Duodenal atresia
* Duodenal ulcer due to antral G-cell hyperfunction
* Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
* Dup(7)(q11.23) - See 7q11.23 duplication syndrome
* Duplication 10p - See Chromosome 10p duplication
* Duplication 10q - See Chromosome 10q duplication
* Duplication 11p - See Chromosome 11p duplication
* Duplication 11q - See Chromosome 11q duplication
* Duplication 12p - See Chromosome 12p duplication
* Duplication 12q - See Chromosome 12q duplication
* Duplication 13q - See Chromosome 13q duplication
* Duplication 14q - See Chromosome 14q duplication
* Duplication 15q - See Chromosome 15q duplication
* Duplication 16p - See Chromosome 16p duplication
* Duplication 16q - See Chromosome 16q duplication
* Duplication 17p - See Chromosome 17p duplication
* Duplication 17p11.2 syndrome - See Potocki-Lupski syndrome
* Duplication 17q - See Chromosome 17q duplication
* Duplication 18p - See Chromosome 18p duplication
* Duplication 18q - See Chromosome 18q duplication
* Duplication 19p - See Chromosome 19p duplication
* Duplication 19q - See Chromosome 19q duplication
* Duplication 1p - See Chromosome 1p duplication
* Duplication 1q - See Chromosome 1q duplication
* Duplication 20p - See Chromosome 20p duplication
* Duplication 20q - See Chromosome 20q duplication
* Duplication 21q - See Chromosome 21q duplication
* Duplication 2p - See Chromosome 2p duplication
* Duplication 2q - See Chromosome 2q duplication
* Duplication 3p - See Chromosome 3p duplication
* Duplication 3q - See Chromosome 3, trisomy 3q
* Duplication 4p - See Chromosome 4p duplication
* Duplication 4q - See Chromosome 4q duplication
* Duplication 5p - See Chromosome 5p duplication
* Duplication 5q - See Chromosome 5q duplication
* Duplication 6p - See Chromosome 6p duplication
* Duplication 6q - See Chromosome 6q duplication
* Duplication 7p - See Chromosome 7p duplication
* Duplication 7q - See Chromosome 7q duplication
* Duplication 8p - See Chromosome 8p duplication
* Duplication 8q - See Chromosome 8q duplication
* Duplication 9p - See Chromosome 9p duplication
* Duplication 9q - See Chromosome 9q duplication
* Duplication of leg mirror foot
* Duplication of the thumb unilateral biphalangeal
* Duplication of urethra
* Duplication Xq - See Chromosome Xq duplication
* Duplication/inversion 15q11 - See Isodicentric chromosome 15 syndrome
* Dupont Sellier Chochillon syndrome
* Dupuytren subungual exostosis
* DURS1 - See Duane syndrome type 1
* DURS2 - See Duane syndrome type 2
* Dutch-Kentucky syndrome - See Trismus-pseudocamptodactyly syndrome
* DW complex - See Dandy-Walker complex
*   Dwarfism
* Dwarfism bluish sclerae
* Dwarfism deafness retinitis pigmentosa
* Dwarfism familial with muscle spasms
* Dwarfism lethal type advanced bone age
* Dwarfism Levi type
* Dwarfism Levi's type - See Dwarfism Levi type
* Dwarfism of Sindh - See Isolated growth hormone deficiency type 1B
* Dwarfism stiff joint ocular abnormalities
* Dwarfism syndesmodysplasic - See Syndesmodysplasic dwarfism
* Dwarfism tall vertebrae
* Dwarfism thanatophoric - See Thanatophoric dysplasia
* Dwarfism thin bones multiple fractures
* Dwarfism with disproportionately high vertebral bodies - See Dwarfism tall vertebrae
* Dwarfism with short, bowed, rigid limbs and characteristic facies - See Boomerang dysplasia
* Dwarfism, cerebral atrophy and generalized keratosis follicularis - See Keratosis follicularis dwarfism and cerebral atrophy
* Dwarfism, cortical thickening of tubular bones and transient hypocalcemia - See Kenny-Caffey syndrome type 2
* Dwarfism, lean spastic type - See Coffin syndrome 1
* Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
* Dwarfism, mental retardation and eye abnormality
* Dwarfism, proportionate with hip dislocation
* Dwarfism-eczema-peculiar facies syndrome - See Dubowitz syndrome
* Dwarfism-retinal atrophy-deafness syndrome - See Cockayne syndrome
* DWM with postaxial polydactyly - See Dandy-Walker malformation with postaxial polydactyly
* Dyggve-Melchior-Clausen disease - See Dyggve-Melchior-Clausen syndrome
* Dyggve-Melchior-Clausen syndrome
* Dykes Markes Harper syndrome
* Dysautonomia like disorder
* Dysautonomia, familial - See Familial dysautonomia
* Dysbetalipoproteinemia - See Hyperlipidemia type 3
* Dyschondrodysplasia with Hemangiomas - See Maffucci syndrome
* Dyschondroplasia - See Ollier disease
* Dyschondrosteosis - See Leri Weill dyschondrosteosis
* Dyschondrosteosis nephritis
* Dyschondrosteosis, homozygous - See Langer mesomelic dysplasia
* Dyschromatosis symmetrica hereditaria - See Dyschromatosis symmetrica hereditaria 1
* Dyschromatosis symmetrica hereditaria 1
* Dyschromatosis universalis hereditaria
* Dysembryoplastic neuroepithelial tumor
* Dysencephalia splachnocystica - See Meckel syndrome
* Dysequilibrium syndrome
* Dyserythropoietic anemia, and neutrophilic dermatosis - See Majeed syndrome
* Dyserythropoietic anemia, congenital - See Congenital dyserythropoietic anemia
* Dyserythropoietic anemia, congenital type 1 - See Congenital dyserythropoietic anemia type 1
* Dyserythropoietic anemia, congenital type 3 - See Congenital dyserythropoietic anemia type 3
* Dyserythropoietic anemia, HEMPAS type - See Congenital dyserythropoietic anemia type 2
* Dysesthetic Vulvodynia
* Dysferlinopathy
* Dysfibrinogenemia
* Dysfibrinogenemia, familial - See Dysfibrinogenemia
* Dysfunction of the fifth component of complement (C5) - See Leiner disease
* Dysgenesis mesodermalis corneae et sclerae - See Brittle cornea syndrome
* Dysgnathia complex
* Dysharmonic skeletal maturation muscular fibre disproportion - See Qazi Markouizos syndrome
* Dyskeratosis congenita
* Dyskeratosis congenita autosomal dominant
* Dyskeratosis congenita autosomal recessive
* Dyskeratosis congenita Scoggins type - See Dyskeratosis congenita autosomal dominant
* Dyskeratosis congenita X-linked
*   Dyskinesia, drug induced - See Drug induced dyskinesia
* Dyslipoproteinemic corneal dystrophy - See Fish-eye disease
* Dysmorphic facial features and multiple structural abnormalities - See Thakker-Donnai syndrome
* Dysmorphism abnormal vocalization mental retardation
* Dysmorphism arthrogryposis skeletal maturation advanced - See Spondylometaphyseal dysplasia Kozlowski type
* Dysmorphism cleft palate loose skin
* Dysmorphism multiple structural anomalies - See Thakker-Donnai syndrome
* Dysmorphism, corpus callosum agenesis and colobomas - See Temtamy syndrome
* Dysodontogenic epithelial tumor - See Craniopharyngioma
* Dysosteosclerosis
* Dysostosis acral with facial and genital abnormalities
* Dysostosis peripheral
* Dysostosis Stanescu type - See Craniofacial dysostosis with diaphyseal hyperplasia
* Dysphagia sideropenica - See Plummer Vinson syndrome
* Dysplasia cleidocranial - See Cleidocranial dysplasia
* Dysplasia epiphysealis hemimelica
* Dysplasia epiphysealis hemimelica with chondromas and osteochondromas - See Carpotarsal osteochondromatosis
* Dysplasia epiphysealis multiplex - See Fairbank disease
* Dysplasia gigantism syndrome, X-linked - See Simpson-Golabi-Behmel syndrome
* Dysplasia of nails with hypodontia - See Witkop syndrome
* Dysplasia olfactogenitalis of De Morsier (formerly) - See Kallmann syndrome
* Dysplastic cortical hyperostosis
* Dysplastic gangliocytoma of the cerebellum - See Lhermitte-Duclos disease
*   Dysplastic nevus - See Atypical mole syndrome
* Dyspraxia - See Apraxia
* Dysprothrombinemia - See Inherited hypoprothrombinemia
*   Dysraphism - See Neural tube defects
* Dysraphism, cleft lip/palate, limb reduction defects - See Medeira-Dennis-Donnai syndrome
* Dyssegmental dwarfism Rolland-Desbuquois type - See Dyssegmental dysplasia Rolland-Desbuquois type
* Dyssegmental dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker type
* Dyssegmental dysplasia and glaucoma
* Dyssegmental dysplasia Rolland-Desbuquois type
* Dyssegmental dysplasia Silverman-Handmaker type
* Dyssynergia cerebellaris myoclonica
* Dystelephalangy
* Dystonia 1
* Dystonia 1, torsion, autosomal dominant - See Dystonia 1
* Dystonia 10
* Dystonia 11
* Dystonia 12
* Dystonia 13
* Dystonia 13, torsion - See Dystonia 13
* Dystonia 15, myoclonic
* Dystonia 16
* Dystonia 17
* Dystonia 17, torsion, autosomal recessive - See Dystonia 17
* Dystonia 18
* Dystonia 19
* Dystonia 2, torsion, autosomal recessive
* Dystonia 3, torsion, X-linked
* Dystonia 4, torsion, autosomal dominant type
* Dystonia 5 - See Dystonia 5, Dopa-responsive type
* Dystonia 5, Dopa-responsive type
* Dystonia 6, torsion
* Dystonia 7, torsion
* Dystonia 8
* Dystonia familial, with visual failure and striatal lucencies - See Leber hereditary optic neuropathy with dystonia
* Dystonia musculorum deformans 1 - See Dystonia 1
* Dystonia musculorum deformans 4 - See Dystonia 4, torsion, autosomal dominant type
* Dystonia musculorum deformans type 2 - See Dystonia 2, torsion, autosomal recessive
* Dystonia, alcohol responsive - See Dystonia 11
* Dystonia, DOPA responsive, autosomal recessive - See Segawa syndrome, autosomal recessive
* Dystonia, Dopa-responsive, autosomal dominant - See Dystonia 5, Dopa-responsive type
* Dystonia, familial paroxysmal - See Dystonia 10
* Dystonia, juvenile-onset - See Juvenile-onset dystonia
* Dystonia, progressive, with diurnal variation - See Dystonia 5, Dopa-responsive type
* Dystonia-Parkinsonism with diurnal fluctuation - See Dystonia 5, Dopa-responsive type
* Dystonia-Parkinsonism, X-linked - See Dystonia 3, torsion, X-linked
* Dystrophia myotonica - See Myotonic dystrophy
* Dystrophia myotonica type 1 - See Myotonic dystrophy type 1
* Dystrophia myotonica type 2 - See Myotonic dystrophy type 2
* Dystrophia retinae pigmentosa-dysostosis syndrome - See Usher syndrome
* Dystrophic epidermolysis bullosa
* Dystrophic epidermolysis bullosa, autosomal dominant - See Generalized dominant dystrophic epidermolysis bullosa
* Dystrophinopathy
* Dystrophy osseous sclerosing mixed - See MSBD syndrome
* DYT1 - See Dystonia 1
* DYT10 - See Dystonia 10
* DYT11 - See Dystonia 11
* DYT12 - See Dystonia 12
* DYT13 - See Dystonia 13
* DYT15 - See Dystonia 15, myoclonic
* DYT16 - See Dystonia 16
* DYT17 - See Dystonia 17
* DYT18 - See Dystonia 18
* DYT19 - See Dystonia 19
* DYT2 - See Dystonia 2, torsion, autosomal recessive
* DYT3 - See Dystonia 3, torsion, X-linked
* DYT4 - See Dystonia 4, torsion, autosomal dominant type
* DYT5 - See Dystonia 5, Dopa-responsive type
* DYT6 - See Dystonia 6, torsion
* DYT7 - See Dystonia 7, torsion
* DYT8 - See Dystonia 8