Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [D]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• D ercole syndrome
• D trisomy syndrome (formerly) - See Trisomy 13
• D2HA - See D-2-hydroxyglutaric aciduria
• D-2-HGA - See D-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric acidemia - See D-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric aciduria
• Da Silva syndrome - See Intellectual disability - hypoplastic corpus callosum - preauricular tag
• DA1A - See Distal arthrogryposis type 1
• DA2A - See Freeman Sheldon syndrome
• DA2B - See Sheldon-Hall syndrome
• DA3 - See Gordon syndrome
• DA5D - See Distal arthrogryposis
• DA6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Dacryocystitis osteopoikilosis - See Osteopoikilosis and dacryocystitis
• DADA2 - See Adenosine Deaminase 2 deficiency
• Daentl Towsend Siegel syndrome
• Dahlberg Borer Newcomer syndrome
• Daish Hardman Lamont syndrome
• Dalmatian hypouricemia - See Renal hypouricemia
• Danbolt-Cross syndrome - See Acrodermatitis enteropathica
• Dancing eye syndrome - See Opsoclonus-myoclonus syndrome
• Dancing eye-dancing feet syndrome - See Opsoclonus-myoclonus syndrome
• Dandy-Walker complex
• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Dandy-Walker like malformation with atrioventricular septal defect
• Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
• 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
• DAS - See Childhood apraxia of speech
• DAT Deficiency - See Dopamine transporter deficiency syndrome
• Dauwerse-Peters syndrome
• Davenport Donlan syndrome
• Davidson disease - See Microvillus inclusion disease
• Davidson's disease - See Microvillus inclusion disease
• Dawson disease - See Subacute sclerosing panencephalitis
• Dawson Encephalitis - See Subacute sclerosing panencephalitis
• DAZ - See Y chromosome infertility
• DBA - See Diamond-Blackfan anemia
• DBA2 - See Diamond-Blackfan anemia 2
• DBA3 - See Diamond-Blackfan anemia 3
• 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
• DC - See Dyskeratosis congenita
• DCCD - See Dermochondrocorneal dystrophy of François
• DCM - See Dilated cardiomyopathy
• DCM - See Diffuse cutaneous mastocytosis
• DCMA syndrome
• 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 cutaneous systemic sclerosis
• DD - See Diastrophic dysplasia
• DDC deficiency - See Aromatic L-amino acid decarboxylase deficiency
• DDCH - See Deafness, dystonia, and cerebral hypomyelination
• DDD - See Dense deposit disease
• DDEB, generalized - See Dominant dystrophic epidermolysis bullosa
• DDEB, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
• DDEB-gen - See Dominant dystrophic epidermolysis bullosa
• DD-I - See Dentin dysplasia, type 1
• DD-II - See Dentin dysplasia, coronal
• DDOD - See Autosomal dominant deafness-onychodystrophy syndrome
• DDOD syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• DDON syndrome - See Mohr-Tranebjaerg syndrome
• DDOST-CDG - See DDOST-CDG (CDG-Ir)
• DDOST-CDG (CDG-Ir)
• DDP - See Mohr-Tranebjaerg syndrome
• DDRD - See Dyssegmental dysplasia Rolland-Desbuquois type
• DDS - See Mohr-Tranebjaerg syndrome
• DDSH - See Dyssegmental dysplasia Silverman-Handmaker type
• DDX3X-related intellectual disability
• De Barsy syndrome
• De Die-Smulders-Vles-Fryns syndrome - See Arachnodactyly - intellectual disability - dysmorphism
• De la Chapelle dysplasia - See Atelosteogenesis type 2
• De Lange syndrome - See Cornelia de Lange syndrome
• De morsier syndrome - See Septo-optic dysplasia spectrum
• De novo cryptogenic refractory multifocal febrile status epilepticus - See New-onset refractory status epilepticus
• De Quervain tendinopathy - See De Quervain's disease - not a rare disease
• De Quervain's disease - not a rare disease
• De Quervain's syndrome - See De Quervain's disease - not a rare disease
• De Quervain's tendinitis - See De Quervain's disease - not a rare disease
• De Quervain's tendonitis - See De Quervain's disease - not a rare disease
• De Quervains tenosynovitis - See De Quervain's disease - not a rare disease
• De Sanctis-Cacchione syndrome
• De Vivo disease - See Glucose transporter type 1 deficiency syndrome
• DEAF1 autosomal dominant mutations (subtype) - See DEAF1-associated disorders
• DEAF1 autosomal recessive mutations (subtype) - See DEAF1-associated disorders
• DEAF1 mutations - See DEAF1-associated disorders
• DEAF1 related disorders - See DEAF1-associated disorders
• DEAF1-associated disorders
• DEAF1-associated neurodevelopmental disorder - See DEAF1-associated disorders
• Deafness - dystonia - optic neuronopathy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness - nephritis - ano-rectal malformation - See Deafness nephritis anorectal malformation
• Deafness 3 conductive with stapes fixation - See Deafness, X-linked 2
• Deafness and myopia syndrome
• Deafness and ocular albinism - See Albinism ocular late onset sensorineural deafness
• Deafness and onychodystrophy, dominant form - See Autosomal dominant deafness-onychodystrophy 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 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, dystonia, and cerebral hypomyelination
• 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, 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 5 - Another name for X-linked hereditary sensory and autonomic neuropathy with deafness
• Deafness, X-linked, DFN
• Deafness-dystonia-optic atrophy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-dystonia-optic neuronopathy (DDON) syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-dystonia-optic neuronopathy syndrome - See Mohr-Tranebjaerg syndrome
• Deafness-infertility syndrome
• Deafness-lymphedema-leukemia syndrome
• Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome - See DOOR syndrome
• Deafness-onychoosteodystrophy-intellectual disability syndrome - See DOOR syndrome
• Deafness-retinitis pigmentosa syndrome - See Usher syndrome
• Deafness-symphalangism syndrome of Herrmann - See Multiple synostoses syndrome 1
• DEB - See Dystrophic epidermolysis bullosa
• DEB-Pt - See Pretibial epidermolysis bullosa
• Deciduous skin - See Peeling skin syndrome
• dEDS - See Dermatosparaxis Ehlers-Danlos 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 Cytochrome c oxidase deficiency
• Deficiency of N-glycanase 1
• 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 - not a rare disease
• Degner syndrome - See Orofaciodigital syndrome 13
• Degos disease - See Malignant Atrophic Papulosis
• Degos 'en cocarde' erythrokeratoderma - See Erythrokeratoderma ''en cocardes''
• Degos genodermatosis "en cocardes" - See Erythrokeratoderma ''en cocardes''
• Degos's malignant atrophic papulosis - See Malignant Atrophic Papulosis
• Dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Dehydrated hereditary stomatocytosis
• Dejerine Roussy syndrome (former) - See Central pain syndrome
• 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
• 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(10)(q22.3q23.3) - See 10q22.3q23 microdeletion syndrome
• Del(12)(q14) - See 12q14 microdeletion syndrome
• Del(14)(q22q23) - See Frias syndrome
• Del(15)(q11.2) - See 15q11.2 microdeletion
• Del(15)(q24) - See 15q24 microdeletion syndrome
• Del(16)(p11.2) - See 16p11.2 deletion syndrome
• Del(16)(q24.3) - See 16q24.3 microdeletion syndrome
• Del(17)(q11) - See Chromosome 17q11.2 deletion syndrome
• Del(17)(q12) - See 17q12 deletion syndrome
• Del(17)(q23.1q23.2) - See 17q23.1q23.2 microdeletion syndrome
• Del(19)(p13.12) - See 19p13.12 microdeletion syndrome
• Del(2)(p15p16.1) - See 2p15p16.1 microdeletion syndrome
• Del(2)(q23.1) - See 2q23.1 microdeletion syndrome
• Del(2)(q32) - See SATB2-associated syndrome
• Del(2)(q32q33) - See SATB2-associated syndrome
• Del(20)(p12.3) - See 20p12.3 microdeletion syndrome
• Del(3)(q29) - See 3q29 microdeletion syndrome
• Del(3p) syndrome - See Chromosome 3p- syndrome
• Del(5)(q14.3) - See 5q14.3 microdeletion syndrome
• Del(X)(p23) - See Xp22.3 microdeletion syndrome
• Delayed gastric emptying - See Gastroparesis
• 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 10q22.3q23.3 - See 10q22.3q23 microdeletion syndrome
• 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 12q14 - See 12q14 microdeletion syndrome
• 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 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 Chromosome 3p- 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 7q11.23 - See Williams syndrome
• 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 hepatitis - See Hepatitis D
• 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 Behavioral variant of frontotemporal dementia
• 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
• Dengue virus infection - See Dengue fever
• Dens in dente and palatal invaginations
• Dense deposit disease
• Dent disease
• Dent syndrome - See Dent disease
• Dental ankylosis - See Ankylosis of teeth
• Dentate Cerebellar Ataxia - See Dyssynergia cerebellaris myoclonica
• Dentatorubral Atrophy - See Dyssynergia cerebellaris myoclonica
• Dentatorubral-pallidoluysian atrophy
• Dentatorubropallidoluysian atrophy - See Dentatorubral-pallidoluysian atrophy
• Dentin dyspalsia, Shields type 2 - See Dentin dysplasia, coronal
• Dentin dysplasia sclerotic bones
• Dentin dysplasia type I - See Dentin dysplasia, type 1
• Dentin dysplasia type II - See Dentin dysplasia, coronal
• Dentin dysplasia, coronal
• Dentin dysplasia, type 1
• Dentinogenesis imperfecta
• Dentinogenesis imperfecta Shields type 3 - See Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta type 2
• Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta type III - See Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta without osteogenesis imperfecta - See Dentinogenesis imperfecta
• Dentinogenesis imperfecta, Shields type 2 - See Dentinogenesis imperfecta type 2
• Dentinogenesis imperfecta, Shields type 3 - See Dentinogenesis imperfecta type 3
• Dents disease - See Dent disease
• Dent's disease - See Dent disease
• Denys-Drash syndrome
• Deoxyguanosine Kinase Deficiency - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DEPDC5-Related Epilepsy
• Depersonalization disorder - See Depersonalization/derealization disorder
• Depersonalization/derealization 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 Ridges - See Nelson syndrome
• Dermatan sulfate proteoglycan - See Spondylodysplastic Ehlers-Danlos syndrome
• Dermatitis herpetiformis
• Dermatocardioskeletal syndrome Boronne type
• Dermatofibroma - not a rare disease
• 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 Dermatosparaxis Ehlers-Danlos syndrome
• Dermatosparaxis EDS - See Dermatosparaxis Ehlers-Danlos syndrome
• Dermatosparaxis Ehlers-Danlos syndrome
• 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
• DES embryofetopathy - See Diethylstilbestrol syndrome
• DES syndrome - See Diethylstilbestrol 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 disorder, hereditary - See Desmoid tumor
• Desmoid tumor
• Desmoid type fibromatosis - See 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 apraxia of speech - See Childhood apraxia of speech
• 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 - not a rare disease
• Developmental Gerstmann syndrome - See Gerstmann syndrome
• Developmental language disorder - See Developmental dysphasia familial
• Developmental prosopagnosia
• Developmental verbal apraxia - See Childhood apraxia of speech
• Developmental verbal dyspraxia - See Childhood apraxia of speech
• Devic disease - See Neuromyelitis optica
• Devic syndrome - See Neuromyelitis optica
• Devic's neuromyelitis optica - See Neuromyelitis optica
• 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
• Dextrocardia-bronchiectasis-sinusitis syndrome - See Kartagener syndrome
• Dextro-looped transposition of the great arteries - See Transposition of the great arteries
• DF - See Dengue fever
• 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
• DG1O - See DPM3-CDG (CDG-Io)
• DGI-2 - See Dentinogenesis imperfecta type 2
• D-glycerate dehydrogenase deficiency - See Primary hyperoxaluria type 2
• D-Glycerate kinase deficiency - See D-glycericacidemia
• D-glycericacidemia
• DGUOK Deficiency - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• DH - See Dermatitis herpetiformis
• DHAPAT deficiency - See Rhizomelic chondrodysplasia punctata
• DHD - See Doyne honeycomb retinal dystrophy
• DHDDS-CDG
• DHFR deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
• dHMN - Another name for Distal hereditary motor neuropathy
• DHOF - See Focal dermal hypoplasia
• DHPR deficiency - See Dihydropteridine reductase deficiency
• DHRD - See Doyne honeycomb retinal dystrophy
• DHTR deficiency - See Androgen insensitivity syndrome
• DHX30-Related disorder - See Neurodevelopmental disorder with severe motor impairment and absent language
• DHX30-Related neurodevelopmental disorder - See Neurodevelopmental disorder with severe motor impairment and absent language
• Di Guglielmo syndrome - See Acute erythroid leukemia
• Di Guglielmo's syndrome
• di Sala syndrome - See Warfarin syndrome
• DI-2 - See Dentinogenesis imperfecta type 2
• 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
• 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 Central 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 Central diabetes insipidus
• Diabetes insipidus neurohypophyseal - See Central diabetes insipidus
• Diabetes mellitus MODY type 1 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 2 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 3 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 4 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 6 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 7 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 8 - See Maturity-onset diabetes of the young
• Diabetes mellitus MODY type 9 - See Maturity-onset diabetes of the young
• Diabetes mellitus type 1 - not a rare disease
• 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 - not a rare disease
• Diabetes mellitus, insulin-resistant, with acanthosis nigricans - See Insulin-resistant acanthosis nigricans, type A
• 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-hypogonadism-deafness-intellectual disability syndrome - See Woodhouse Sakati syndrome
• Diabetes-pancreatic exocrine dysfunction syndrome - See Maturity-onset diabetes of the young
• 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 flutter
• 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
• Diarrheogenic Islet Cell Tumor - See VIPoma
• Diastematomyelia - See Split spinal 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
• DI-CMTA - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTB - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTC - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTD - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DI-CMTF - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DIDMOAD - See Wolfram syndrome
• DIDMOAD syndrome - See Wolfram syndrome
• Die Smulders Droog Van Dijk syndrome
• Die Smulders Vles Fryns syndrome
• Diencephalic cachexia - See Diencephalic syndrome
• Diencephalic syndrome
• Diencephalic syndrome of childhood - See Diencephalic syndrome
• Diencephalic syndrome of emaciation - See Diencephalic syndrome
• Dienoyl-CoA reductase deficiency - See 2,4-Dienoyl-CoA reductase deficiency
• Dieterich disease - See Dieterich's disease
• Dieterich's disease
• Diethylstilbestrol embryofetopathy - See Diethylstilbestrol syndrome
• Diethylstilbestrol prenatal exposure - See Diethylstilbestrol syndrome
• Diethylstilbestrol syndrome
• Dieulafoy disease - See Dieulafoy lesion
• Dieulafoy lesion
• Dieulafoy's lesion - See Dieulafoy lesion
• Diffuse alopecia - See Alopecia areata - not a rare disease
• Diffuse astrocytoma
• Diffuse cavernous hemangioma of the rectum
• Diffuse cerebral degeneration in infancy - See Alpers syndrome
• Diffuse cerebral sclerosis of Schilder - See Tumefactive multiple sclerosis
• Diffuse cutaneous maculopapulous mastocytosis - See Diffuse cutaneous mastocytosis
• Diffuse cutaneous mastocytosis
• Diffuse cutaneous systemic scleroderma - See Diffuse cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis - See Diffuse cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis
• Diffuse cystic renal dysplasia - See Renal dysplasia diffuse cystic
• Diffuse dermal angiomatosis
• Diffuse erythrodermic palmoplantar keratoderma, Vörner type - See Epidermolytic palmoplantar keratoderma
• Diffuse gastric cancer
• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
• Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Diffuse intrinsic pontine glioma
• Diffuse isolated mesangial sclerosis - See Diffuse mesangial sclerosis
• Diffuse Large B-Cell Lymphoma
• Diffuse leiomyomatosis in Alport syndrome - See Leiomyomatosis, esophageal and vulval, with nephropathy
• Diffuse Lewy body disease - See Lewy body dementia - not a rare disease
• 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 peritoneal leiomyomatosis - See Disseminated peritoneal leiomyomatosis
• Diffuse pigmented villonodular synovitis - See Pigmented villonodular synovitis
• Diffuse uveitis - See Panuveitis
• Diffuse-type GCT - See Pigmented villonodular synovitis
• Diffuse-type giant cell tumor - See Pigmented villonodular synovitis
• DIG - See Desmoplastic infantile ganglioglioma
• DiGeorge syndrome - See 22q11.2 deletion syndrome
• Digestive System Melanoma
• 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 - See DOOR syndrome
• Digitotalar dysmorphism - See Distal arthrogryposis type 1
• Dihydrofolate reductase deficiency - See Megaloblastic anemia due to dihydrofolate reductase deficiency
• Dihydrolipoamide dehydrogenase deficiency
• Dihydropteridine reductase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Dihydropyrimidinuria - See Dihydropyrimidinase deficiency
• Dihydrotestosterone receptor deficiency - See Androgen insensitivity syndrome
• Dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata
• Dihydroxyadeninuria
• Dilantin Embryopathy - See Fetal hydantoin syndrome
• Dilated cardiomyopathy
• Dilated cardiomyopathy with ataxia - See DCMA syndrome
• Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
• Dilated cardiomyopathy-1S - See Familial dilated cardiomyopathy
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Dilutional hyponatremia - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Dimyelia - See Split spinal cord malformation
• Diomedi Bernardi Placidi syndrome
• Dionisi Vici Sabetta Gambarara syndrome - See Vici syndrome
• Dipetalonema infections - See Acanthocheilonemiasis
• Dipetalonemiasis - See Acanthocheilonemiasis
• DIPG - See Diffuse intrinsic pontine glioma
• 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 spinal 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 - not a rare disease
• Disembarkment syndrome - See Mal de debarquement syndrome
• DISH - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• DISH Forestier's disease - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Dislocation of the hip dysmorphism - See Collins Pope syndrome
• Disomy Y - See 47, XYY 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 peroxisomal alpha-, beta- and omega-oxidation
• Disorder of peroxisomal function - See Peroxisome disorders - not a rare disease
• Disorder of sex development intellectual disability - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Disorder of valine metabolism - See 3-Hydroxyisobutyric aciduria
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Disorders of Intracellular Cobalamin Metabolism
• Disorders of peroxisome biogenesis - See Peroxisomal biogenesis disorders
• Disorders with deficiency of a single peroxisomal enzyme
• 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 - not a rare disease
• Disseminated nonossifying fibromas in association with cafe-au-lait spots - See Fibromatosis multiple non ossifying
• Disseminated peritoneal leiomyomatosis
• Disseminated superficial actinic porokeratosis
• Disseminated superficial actinic porokeratosis 2 - See Porokeratosis, disseminated superficial actinic 2
• Dissociative seizures
• 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 3p deletion - See Chromosome 3p- syndrome
• Distal arthrogryposis
• Distal arthrogryposis type 1
• Distal arthrogryposis type 1A (sub-type) - See Distal arthrogryposis type 1
• Distal arthrogryposis type 1B (sub-type) - See Distal arthrogryposis type 1
• Distal arthrogryposis type 2A - See Freeman Sheldon syndrome
• Distal arthrogryposis type 2B - See Sheldon-Hall syndrome
• Distal arthrogryposis type 3 - See Gordon syndrome
• Distal arthrogryposis type 5
• Distal arthrogryposis type 5 without ophthalmoparesis - See Distal arthrogryposis
• Distal arthrogryposis type 5 without ophthalmoplegia - See Distal arthrogryposis
• Distal arthrogryposis type 5D - See Distal arthrogryposis
• Distal arthrogryposis type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Distal arthrogryposis type 7 - See Trismus-pseudocamptodactyly syndrome
• Distal arthrogryposis type 8 - See Distal arthrogryposis
• Distal arthrogryposis type 9 - See Congenital contractural arachnodactyly
• Distal arthrogryposis type IIB - See Distal arthrogryposis type 5
• Distal arthrogryposis type IIB - See Sheldon-Hall syndrome
• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
• Distal arthrogryposis with ophthalmoplegia - See Distal arthrogryposis type 5
• Distal chromosome 18q deletion syndrome
• Distal Del(17)(p13.1) - See Chromosome 17p13.1 deletion syndrome
• Distal deletion 4p - See Wolf-Hirschhorn syndrome
• Distal duplication 16p - See Chromosome 16p13.3 duplication
• Distal hereditary motor neuropathy
• Distal monosomy 17q - See Chromosome 17q deletion
• Distal monosomy 3p - See Chromosome 3p- syndrome
• Distal monosomy 4p - See Wolf-Hirschhorn syndrome
• Distal myopathy 2 - See Distal myopathy with vocal cord weakness
• 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 renal tubular acidosis
• Distal renal tubular acidosis with hemolytic anemia
• Distal spinal muscular atrophy - Another name for Distal hereditary motor neuropathy
• 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
• Distal trisomy 16p - See Chromosome 16p13.3 duplication
• Distichiasis heart congenital anomalies
• Distilbene embryofetopathy - See Diethylstilbestrol syndrome
• 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
• Divided left atrium - See Cor triatriatum sinister
• Divided right atrium - See Cor triatriatum dexter
• DJS - See Dubin-Johnson syndrome
• DK phocomelia syndrome
• DK1 DEFICIENCY - See DOLK-CDG (CDG-Im)
• DK1-CDG - See DOLK-CDG (CDG-Im)
• 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 - not a rare disease
• DLBCL - See Diffuse Large B-Cell Lymphoma
• DLD deficiency - See Dihydrolipoamide dehydrogenase deficiency
• 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
• DNM2-related centronuclear myopathy - See Autosomal dominant centronuclear myopathy
• DNM2-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - See Hereditary sensory and autonomic neuropathy type 1E
• DOA - See Dominant optic atrophy
• Dobrow syndrome
• Doc 11 (phytanic acid type) - See Refsum disease
• DOCK2 Deficiency
• DOCK8 deficiency - See Autosomal recessive hyper IgE syndrome
• DOLICHOL KINASE DEFICIENCY - See DOLK-CDG (CDG-Im)
• Dolichospondylic dysplasia - See 3M syndrome
• Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency - See DPAGT1-CDG (CDG-Ij)
• DOLK-CDG (CDG-Im)
• Dol-P-mannosyltransferase deficiency - See DPM1-CDG (CDG-Ie)
• Dominant ano-rectal malformation, nephritis and nerve-deafness - See Deafness nephritis anorectal malformation
• Dominant carpotarsal osteochondromatosis - See Carpotarsal osteochondromatosis
• Dominant cleft palate
• Dominant dystrophic epidermolysis bullosa
• Dominant dystrophic epidermolysis bullosa, generalized - See Dominant dystrophic epidermolysis bullosa
• Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis - See Davenport Donlan syndrome
• Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis - See Mesomelia-synostoses syndrome
• Dominant optic atrophy
• DOMINANT OPTIC ATROPHY PLUS SYNDROME - See Autosomal dominant optic atrophy plus syndrome
• Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy - See Autosomal dominant optic atrophy plus 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
• DOORS syndrome - See DOOR syndrome
• Doose syndrome - See Epilepsy with myoclonic-atonic seizures
• Dopa decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
• DOPA responsive dystonia, autosomal recessive - See Tyrosine hydroxylase deficiency
• Dopamine beta hydroxylase deficiency
• Dopamine beta-hydroxylase deficiency, congenital - See Dopamine beta hydroxylase deficiency
• Dopamine transporter deficiency syndrome
• Dopa-responsive dystonia
• Dopa-responsive dystonia autosomal dominant Segawa syndrome - See DYT/PARK-GCH1
• DOPA-responsive dystonia, with or without hyperphenylalaninemia - See DYT/PARK-GCH1
• 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 heterozygotes sickling disorder - See Hemoglobinopathy
• Double inferior vena cava - not a rare disease
• Double IVC - See Double inferior vena cava - not a rare disease
• Double nails on the fifth toe
• Double outlet left ventricle
• Double outlet right atrium
• 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 Syndrome
• Double uterus-hemivagina-renal agenesis
• Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype - See Meacham Winn Culler syndrome
• Double Y - See 47, XYY syndrome
• Double Y syndrome - See 47, XYY 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 - not a rare disease
• Down's syndrome - See Down syndrome - not a rare disease
• Doxorubicin induced cardiomyopathy
• Doyne honeycomb degeneration of retina - See Doyne honeycomb retinal dystrophy
• Doyne honeycomb retinal dystrophy
• DPAGT1-CDG - See DPAGT1-CDG (CDG-Ij)
• DPAGT1-CDG (CDG-Ij)
• DPAGT1-CDG (CDG-Ij) - See DPAGT1-CDG (CDG-Ij)
• DPB - See Diffuse panbronchiolitis
• DPD deficiency - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• DPD1 - See Camurati-Engelmann disease
• DPED - See Maturity-onset diabetes of the young
• DPH Deficiency - See Dihydropyrimidinase deficiency
• DPL - See Disseminated peritoneal leiomyomatosis
• D-plus hemolytic uremic syndrome (D+HUS)
• DPM1-CDG - See DPM1-CDG (CDG-Ie)
• DPM1-CDG (CDG-Ie)
• DPM1-CDG (CDG-Ie) - See DPM1-CDG (CDG-Ie)
• DPM2-CDG
• DPM3-CDG - See DPM3-CDG (CDG-Io)
• DPM3-CDG (CDG-Io)
• DPR - See Dermatopathia pigmentosa reticularis
• DPYS Deficiency - See Dihydropyrimidinase deficiency
• DR syndrome - See Duane-radial ray syndrome
• DRA - See Amyloidosis Beta2M
• Drachtman Weinblatt Sitarz syndrome
• Dracunculiasis
• Drash syndrome - See Denys-Drash syndrome
• Dravet syndrome
• DRESS syndrome - See Drug reaction with eosinophilia and systemic symptoms
• Drifting spleen - See Wandering spleen
• DRPLA - See Dentatorubral-pallidoluysian atrophy
• DRRS - See Duane-radial ray syndrome
• DRS - See Duane syndrome
• Drug induced dyskinesia - not a rare disease
• Drug rash with eosinophilia and systemic symptoms - See Drug reaction with eosinophilia and systemic symptoms
• Drug reaction eosinophilic systemic syndrome - See Drug reaction with eosinophilia and systemic symptoms
• Drug reaction with eosinophilia and systemic symptoms
• Drug-induced gigantomastia (subtype) - See Gigantomastia
• Drug-induced localized lipodystrophy (subtype) - See Localized lipodystrophy
• Drug-induced Stevens Johnson syndrome - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Dry eye syndrome - See Keratoconjunctivitis sicca - not a rare disease
• 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
• dSMA - Another name for Distal hereditary motor neuropathy
• 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
• DTDP1 - See Dentin dysplasia, type 1
• DTDP2 - See Dentin dysplasia, coronal
• DTDS - See Dopamine transporter deficiency syndrome
• DTGA - See Transposition of the great arteries
• Du pan syndrome - See Fibular hypoplasia and complex brachydactyly
• Duane anomaly - See Duane syndrome
• 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
• Duarte Galactosemia
• Dubin-Johnson syndrome
• Dubowitz disease - See Spinal muscular atrophy type 2
• 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 - See Dermatitis herpetiformis
• Duhring-Brocq disease - See Dermatitis herpetiformis
• Duhring's disease - See Dermatitis herpetiformis
• Duker Weiss Siber syndrome
• Dunbar syndrome - See Celiac artery compression syndrome
• Duncan disease - See X-linked lymphoproliferative syndrome
• Dunnigan syndrome - See Familial partial lipodystrophy type 2
• Duodenal atresia
• Duodenal atresia tetralogy of Fallot
• 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(16)(p13.11) - See 16p13.11 microduplication syndrome
• Dup(16)(p13.3) - See Chromosome 16p13.3 duplication
• Dup(17)(q12) - See 17q12 duplication
• Dup(17p) - See Chromosome 17p duplication
• Dup(7)(q11.23) - See 7q11.23 duplication syndrome
• Dup(8)(q12) - See 8q12 microduplication syndrome
• Dup(X)(p11.22p11.23) - See Microduplication Xp11.22-p11.23 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 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 3q duplication
• 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 - not a rare disease
• 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 thanatophoric - See Thanatophoric dysplasia
• Dwarfism thin bones multiple fractures
• 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, 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
• DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• DYRK1A Syndrome - See DYRK1A-Related Intellectual Disability Syndrome
• DYRK1A-Related Intellectual Disability 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
• Dysferlinopathy
• Dysfibrinogenemia
• Dysfibrinogenemia, familial - See Dysfibrinogenemia
• 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 - not a rare disease
• Dyskinesia, familial, with facial myokymia - See ADCY5-related dyskinesia
• Dyslipoproteinemic corneal dystrophy - See Fish-eye disease
• Dysmorphic facial features and multiple structural abnormalities - See Thakker-Donnai syndrome
• 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
• Dysmorphism-pectus carinatum-joint laxity syndrome - See Guizar Vasquez Sanchez Manzano syndrome
• Dysodontogenic epithelial tumor - See Craniopharyngioma
• Dysosteosclerosis
• Dysostosis enchondralis metaepiphysaria, Catel-Hempel type - See Schwartz Jampel syndrome
• 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 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
• Dyspraxia - See Apraxia
• Dysprothrombinemia - See Prothrombin deficiency
• Dysraphism - See Neural tube defects - not a rare disease
• 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
• Dyssynergia Cerebellaris Progressiva - See Dyssynergia cerebellaris myoclonica
• Dystelephalangy
• Dystonia 1 - See DYT-TOR1A
• Dystonia 1, torsion, autosomal dominant - See DYT-TOR1A
• Dystonia 10 - See Paroxysmal kinesigenic choreoathetosis
• Dystonia 11 - See Myoclonus-dystonia
• Dystonia 12 - See Rapid-onset dystonia-parkinsonism
• Dystonia 18 - See Paroxysmal exertion-induced dyskinesia
• Dystonia 2, torsion, autosomal recessive
• Dystonia 20, Childhood-Onset - See MEPAN syndrome
• Dystonia 3, torsion, X-linked - See X-linked dystonia-parkinsonism/Lubag
• Dystonia 5 - See Dopa-responsive dystonia
• Dystonia 6 - See DYT-THAP1
• Dystonia familial, with visual failure and striatal lucencies - See Leber hereditary optic neuropathy with dystonia
• Dystonia musculorum deformans 1 - See DYT-TOR1A
• Dystonia musculorum deformans 4 - See DYT-TUBB4A
• Dystonia musculorum deformans type 2 - See Dystonia 2, torsion, autosomal recessive
• Dystonia, alcohol responsive - See Myoclonus-dystonia
• Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities - See MEPAN syndrome
• Dystonia, DOPA responsive, autosomal recessive - See Tyrosine hydroxylase deficiency
• Dystonia, juvenile-onset - See Juvenile-onset dystonia
• Dystonia, progressive, with diurnal variation - See Dopa-responsive dystonia
• Dystonia-11, myoclonic - See Myoclonus-dystonia
• Dystonia-16 - See DYT-PRKRA
• Dystonia-25 - See DYT-GNAL
• Dystonia-28 - See DYT-KMT2B
• Dystonia-Parkinsonism with diurnal fluctuation - See Dopa-responsive dystonia
• DYSTONIA-PARKINSONISM, ADULT-ONSET - See NBIA/DYT/PARK-PLA2G6
• Dystonia-parkinsonism, Paisan-Ruiz type - See NBIA/DYT/PARK-PLA2G6
• Dystonia-Parkinsonism, X-linked - See X-linked dystonia-parkinsonism/Lubag
• Dystroglycanopathy - See Congenital muscular dystrophy
• 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 Dominant dystrophic epidermolysis bullosa
• Dystrophinopathy
• Dystrophy osseous sclerosing mixed - See MSBD syndrome
• DYT/PARK-GCH1
• DYT1 - See DYT-TOR1A
• DYT1 Early-Onset Isolated Dystonia - See DYT-TOR1A
• DYT11 - See Myoclonus-dystonia
• DYT12 - See Rapid-onset dystonia-parkinsonism
• DYT16 - See DYT-PRKRA
• DYT18 - See Paroxysmal exertion-induced dyskinesia
• DYT2 - See Dystonia 2, torsion, autosomal recessive
• DYT25 - See DYT-GNAL
• DYT28 - See DYT-KMT2B
• DYT29 - See MEPAN syndrome
• DYT3 - See X-linked dystonia-parkinsonism/Lubag
• DYT4 - See DYT-TUBB4A
• DYT5 - See Dopa-responsive dystonia
• DYT6 - See DYT-THAP1
• DYT-ATP1A3 - See Rapid-onset dystonia-parkinsonism
• DYT-GCH1 - See DYT/PARK-GCH1
• DYT-GCH1 (subtype) - See Dopa-responsive dystonia
• DYT-GNAL
• DYT-KMT2B
• DYT-MR-1 - See Paroxysomal nonkinesigenic dyskinesia
• DYTOABG - See MEPAN syndrome
• DYT-PRKRA
• DYT-PRRT2 - See Paroxysmal kinesigenic choreoathetosis
• DYT-SGCE - See Myoclonus-dystonia
• DYT-SLC2A1 - See Paroxysmal exertion-induced dyskinesia
• DYT-SPR (subtype) - See Dopa-responsive dystonia
• DYT-TAF1 - See X-linked dystonia-parkinsonism/Lubag
• DYT-TH (subtype) - See Dopa-responsive dystonia
• DYT-THAP1
• DYT-TOR1A
• DYT-TOR1A dystonia - See DYT-TOR1A
• DYT-TUBB4A