- 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
- 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 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 Diffuse cutaneous mastocytosis
- DCM - See Dilated cardiomyopathy
- 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 Toni-Fanconi syndrome - See Fanconi 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 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 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
- 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 (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 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
- Dengue virus infection - See Dengue fever
- Dennis Fairhurst Moore syndrome
- 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 - SeeMegarbane 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
sábado, 26 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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