List of rare diseases-D

NIH genetic and rare disease info

• NIH info on List of rare diseases-D

List of rare diseases-D is a rare disease.

• D ercole syndrome
• D trisomy syndrome (formerly)
• D2HA
• D-2-HGA
• D-2-hydroxyglutaric acidemia
• D-2-hydroxyglutaric aciduria
• Da Silva syndrome
• DA1A
• DA2A
• DA2B
• DA3
• DA5D
• DA6
• Dacryocystitis osteopoikilosis
• DADA2
• Daentl Towsend Siegel syndrome
• Dahlberg Borer Newcomer syndrome
• Daish Hardman Lamont syndrome
• Dalmatian hypouricemia
• Danbolt-Cross syndrome
• Dancing eye syndrome
• Dancing eye-dancing feet syndrome
• Dandy-Walker complex
• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Dandy-Walker like malformation with atrioventricular septal defect
• Dandy-Walker malformation 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)
• Dandy-Walker variant (type of DW complex)
• Dandy-Walker-like malformation with ASD
• Daneman Davy Mancer syndrome
• Danks Mayne Kozlowski precocious osteodysplasty
• Danon disease
• Danubian endemic familial nephropathy
• Dappled metaphysis syndrome
• Darier disease
• Darier White Disease
• Darier-Gottron disease
• Darier's disease
• Darrow-Gamble disease
• DAS
• DAT Deficiency
• Dauwerse-Peters syndrome
• Davenport Donlan syndrome
• Davidson disease
• Davidson's disease
• Dawson disease
• Dawson Encephalitis
• DAZ
• DBA
• DBA2
• DBA3
• D-bifunctional protein deficiency
• DBP deficiency
• DBQD
• DBS/FOAR syndrome
• DC
• DC
• DCCD
• DCM
• DCM
• DCMA syndrome
• DCML
• DCO
• DCS
• DcSSc
• DD
• DDC deficiency
• DDCH
• DDD
• DDEB, generalized
• DDEB, Pasini and Cockayne-Touraine types
• DDEB-gen
• DD-I
• DD-II
• DDOD
• DDOD syndrome
• DDON syndrome
• DDOST-CDG
• DDOST-CDG (CDG-Ir)
• DDP
• DDRD
• DDS
• DDSH
• DDX3X-related intellectual disability
• De Barsy syndrome
• De Die-Smulders-Vles-Fryns syndrome
• De la Chapelle dysplasia
• De Lange syndrome
• De morsier syndrome
• De novo cryptogenic refractory multifocal febrile status epilepticus
• De Quervain tendinopathy- not a rare disease.
• De Quervain's disease- not a rare disease.
• De Quervain's syndrome- not a rare disease.
• De Quervain's tendinitis- not a rare disease.
• De Quervain's tendonitis- not a rare disease.
• De Quervains tenosynovitis- not a rare disease.
• De Sanctis-Cacchione syndrome
• De Toni-Fanconi syndrome
• De Vivo disease
• DEAF1 autosomal dominant mutations (subtype)
• DEAF1 autosomal recessive mutations (subtype)
• DEAF1 mutations
• DEAF1 related disorders
• DEAF1-associated disorders
• DEAF1-associated neurodevelopmental disorder
• Deafness - dystonia - optic neuronopathy syndrome
• Deafness - nephritis - ano-rectal malformation
• Deafness 3 conductive with stapes fixation
• Deafness and myopia syndrome
• Deafness and ocular albinism
• Deafness and onychodystrophy, dominant form
• Deafness and pili torti, Bjornstad type
• Deafness conductive ptosis skeletal anomalies
• Deafness conductive stapedial ear malformation facial palsy
• Deafness conductive with stapes fixation
• Deafness congenital with inner ear agenesis microtia and microdontia
• Deafness craniofacial syndrome
• Deafness dystonia 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
• Deafness mixed with perilymphatic Gusher, X-linked
• Deafness nephritis anorectal malformation
• Deafness nonsyndromic, Connexin 26 linked
• Deafness oligodontia syndrome
• Deafness peripheral neuropathy arterial disease
• Deafness progressive cataract autosomal dominant
• Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency
• Deafness vitiligo achalasia
• Deafness with goiter
• Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
• Deafness with 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
• Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics
• Deafness, congenital, and functional heart disease
• Deafness, congenital, with keratopachydermia and constrictions of fingers and toes
• Deafness, dystonia, and cerebral hypomyelination
• Deafness, epiphyseal dysplasia, short stature
• Deafness, femoral epiphyseal dysplasia, short stature and developmental delay
• Deafness, isolated, due to mitochondrial transmission
• Deafness, myopia, cataract, saddle nose-Marshall type
• Deafness, neurosensory nonsyndromic recessive, DFN
• Deafness, neurosensory, autosomal recessive 47
• Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
• Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts
• Deafness, skeletal dysplasia, lip granuloma
• 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
• Deafness-dystonia-optic neuronopathy (DDON) syndrome
• Deafness-dystonia-optic neuronopathy syndrome
• Deafness-infertility syndrome
• Deafness-lymphedema-leukemia syndrome
• Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
• Deafness-onychoosteodystrophy-intellectual disability syndrome
• Deafness-retinitis pigmentosa syndrome
• Deafness-symphalangism syndrome of Herrmann
• DEB
• DEB-Pt
• Deciduous skin
• dEDS
• Deep gluteal syndrome
• Deerfly fever
• Defect in leucine metabolism
• Defect of enterocyte intrinsic factor receptor
• Defective apolipoprotein B-100
• Deficiency of alpha-glucosidase
• Deficiency of C1 esterase inhibitor
• Deficiency of GP 2B 3A complex
• Deficiency of interleukin-1 receptor antagonist
• Deficiency of lysosomal alpha-glucosidase
• Deficiency of mitochondrial respiratory chain complex4
• Deficiency of N-glycanase 1
• Deficiency of platelet glycoprotein 1b
• Deficiency of the aminoacylase-1 enzyme
• Deficiency of vitamin C
• DEFN
• Degenerative disc disease- not a rare disease.
• Degner syndrome
• Degos disease
• Degos 'en cocarde' erythrokeratoderma
• Degos genodermatosis "en cocardes"
• Degos's malignant atrophic papulosis
• Dehydratase deficiency
• Dehydrated hereditary stomatocytosis
• Dejerine Roussy syndrome (former)
• Dejerine-Klumpke palsy
• Dejerine-Sottas neuropathy
• Dejerine-Sottas syndrome
• Dekaban Arima syndrome
• Dekaban-Arima syndrome
• Del Castillo syndrome
• Del(1)(q44)
• Del(10)(q22.3q23.3)
• Del(12)(q14)
• Del(14)(q22q23)
• Del(15)(q11.2)
• Del(15)(q24)
• Del(16)(p11.2)
• Del(16)(q24.3)
• Del(17)(q11)
• Del(17)(q12)
• Del(17)(q23.1q23.2)
• Del(19)(p13.12)
• Del(2)(p15p16.1)
• Del(2)(q23.1)
• Del(2)(q32)
• Del(2)(q32q33)
• Del(20)(p12.3)
• Del(3)(q29)
• Del(3p) syndrome
• Del(5)(q14.3)
• Del(X)(p23)
• Delayed gastric emptying
• Delayed membranous cranial ossification
• Delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids
• Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases
• Deleted in azoospermia
• Deletion 10p
• Deletion 10q
• Deletion 10q22.3q23.3
• Deletion 11p
• Deletion 11q
• Deletion 12p
• Deletion 12q
• Deletion 12q14
• Deletion 13q
• Deletion 14q
• Deletion 15q
• Deletion 16p
• Deletion 16q
• Deletion 17p
• Deletion 17q
• Deletion 19p
• Deletion 19q
• Deletion 1p
• Deletion 1q
• Deletion 1q41-q42
• Deletion 20p
• Deletion 20q
• Deletion 21q
• Deletion 22q
• Deletion 22q13.3 syndrome
• Deletion 2p
• Deletion 2q
• Deletion 2q24
• Deletion 3p
• Deletion 3p25
• Deletion 3q
• Deletion 4p
• Deletion 4q
• Deletion 5p
• Deletion 5q
• Deletion 6p
• Deletion 6q
• Deletion 6q25
• Deletion 7p
• Deletion 7q
• Deletion 7q11.23
• Deletion 8p
• Deletion 8p23.1
• Deletion 8q
• Deletion 8q24.1
• Deletion 9p
• Deletion 9q
• Deletion of chromosome 11p11.2
• Delleman Oorthuys syndrome
• Delleman syndrome
• Delta hepatitis
• Delta storage pool disease
• Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
• Delta-sarcoglycanopathy
• Dementia familial British
• Dementia multi-infarct
• Dementia with lobar atrophy and neuronal cytoplasmic inclusions
• Dementia, familial Danish
• Dementia, frontotemporal, with parkinsonism
• Dementia, hereditary dysphasic disinhibition
• Dementia, hereditary multi-infarct type
• Dementia, prefrontal, with bone cysts
• Dementia, progressive, with lipomembranous polycystic osteodysplasia
• Demodicidosis
• Dendritic cell neoplasm
• Dendritic cell tumor
• Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Dengue fever
• Dengue hemorrhagic fever
• Dengue shock syndrome
• Dengue virus infection
• Dens in dente and palatal invaginations
• Dense deposit disease
• Dent disease
• Dent syndrome
• Dental ankylosis
• Dentate Cerebellar Ataxia
• Dentatorubral Atrophy
• Dentatorubral-pallidoluysian atrophy
• Dentatorubropallidoluysian atrophy
• Dentin dyspalsia, Shields type 2
• Dentin dysplasia sclerotic bones
• Dentin dysplasia type I
• Dentin dysplasia type II
• Dentin dysplasia, coronal
• Dentin dysplasia, type 1
• Dentinogenesis imperfecta
• Dentinogenesis imperfecta Shields type 3
• Dentinogenesis imperfecta type 2
• Dentinogenesis imperfecta type 3
• Dentinogenesis imperfecta type III
• Dentinogenesis imperfecta without osteogenesis imperfecta
• Dentinogenesis imperfecta, Shields type 2
• Dentinogenesis imperfecta, Shields type 3
• Dents disease
• Dent's disease
• Denys-Drash syndrome
• Deoxyguanosine Kinase Deficiency
• DEPDC5-Related Epilepsy
• Depersonalization disorder
• Depersonalization/derealization disorder
• Deposition of barium in the lungs
• Der kaloustian Jarudi Khoury syndrome
• Der Kaloustian Mcintosh Silver syndrome
• Dercum disease
• Dercum's disease
• Dermal and ocular lesions, irregular menstrual cycles and altered immune responses
• Dermal eccrine cylindroma
• Dermal Ridges
• Dermatan sulfate proteoglycan
• Dermatitis herpetiformis
• Dermatocardioskeletal syndrome Boronne type
• Dermatofibroma- not a rare disease.
• Dermatofibrosarcoma protuberans
• Dermatofibrosis lenticularis disseminata with osteopoikilosis
• Dermatofibrosis, disseminated with osteopoikilosis
• Dermatographia
• Dermatoleukodystrophy
• Dermatomyositis
• Dermatomyositis sine myositis
• Dermatoosteolysis Kirghizian type
• Dermatoosteopoikilosis
• Dermatopathia pigmentosa reticularis
• Dermatosparaxis
• Dermatosparaxis EDS
• Dermatosparaxis Ehlers-Danlos syndrome
• Dermatostomatitis, erythema multiforme type
• Dermochondrocorneal dystrophy
• Dermochondrocorneal dystrophy of François
• Dermo-distortive urticaria
• Dermographism
• Dermoid cysts, hypothyroidism, cleft palate and hypodontia
• Dermoids of cornea
• Dermolytic epidermolysis bullosa
• Dermoodontodysplasia
• Dermo-odonto-dysplasia
• DES
• DES embryofetopathy
• DES syndrome
• Desbuquois dysplasia
• Desbuquois syndrome
• DESC syndrome
• Desiccytosis hereditary
• Desmin related myopathy (former name)
• Desmin storage myopathy (former name)
• Desminopathy (type)
• Desmin-related myopathies with Mallory bodies
• Desmoid disorder, hereditary
• Desmoid tumor
• Desmoid type fibromatosis
• Desmons syndrome
• Desmoplastic infantile astrocytoma
• Desmoplastic infantile ganglioglioma
• Desmoplastic small round cell tumor
• Desmoplastic small round-cell tumor
• Desmosterolosis
• Desquamation of newborn
• DeVaal disease
• Devastating epileptic encephalopathy in school-aged children
• Developmental apraxia of speech
• Developmental delay - hypotonia - extremities hypertrophy
• Developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure
• Developmental dysphasia familial
• Developmental dysplasia of hip- not a rare disease.
• Developmental Gerstmann syndrome
• Developmental language disorder
• Developmental prosopagnosia
• Developmental verbal apraxia
• Developmental verbal dyspraxia
• Devic disease
• Devic syndrome
• Devic's neuromyelitis optica
• Devriendt syndrome
• Dew itch
• Dexamethasone sensitive hypertension
• Dextrocardia
• Dextrocardia bronchiectasis and sinusitis
• Dextrocardia with situs inversus
• Dextrocardia with unusual facies and microphthalmia
• Dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation
• Dextrocardia-bronchiectasis-sinusitis syndrome
• Dextro-looped transposition of the great arteries
• DF
• Dfn 3 nonsyndromic hearing loss and deafness
• DFN3
• DFNA 22
• DFNA 23
• DFNA 24
• DFNA17
• DFNA3
• DFNA53
• DFNB1
• DFNB47
• DFNB51
• DFNB55
• DFNX2
• DFSP
• DG1O
• DGI-2
• D-glycerate dehydrogenase deficiency
• D-Glycerate kinase deficiency
• D-glycericacidemia
• DGUOK Deficiency
• DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
• DH
• DHAPAT deficiency
• DHD
• DHDDS-CDG
• DHFR deficiency
• dHMN - Another name for Distal hereditary motor neuropathy
• DHOF
• DHPR deficiency
• DHRD
• DHTR deficiency
• DHX30-Related disorder
• DHX30-Related neurodevelopmental disorder
• Di Guglielmo syndrome
• Di Guglielmo's syndrome
• di Sala syndrome
• DI-2
• DIA
• Diabetes and deafness, maternally inherited
• Diabetes and pancreatic exocrine dysfunction
• Diabetes in bearded women
• Diabetes insipidus and mellitus with optic atrophy and deafness
• Diabetes insipidus cranial type
• Diabetes insipidus gestational
• Diabetes insipidus nephrogenic
• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
• Diabetes insipidus nephrogenic type 1
• Diabetes insipidus nephrogenic X-linked
• Diabetes insipidus neurogenic
• Diabetes insipidus neurohypophyseal
• Diabetes mellitus MODY type 1
• Diabetes mellitus MODY type 2
• Diabetes mellitus MODY type 3
• Diabetes mellitus MODY type 4
• Diabetes mellitus MODY type 6
• Diabetes mellitus MODY type 7
• Diabetes mellitus MODY type 8
• Diabetes mellitus MODY type 9
• Diabetes mellitus type 1- not a rare disease.
• Diabetes mellitus type II with deafness
• Diabetes mellitus, 6q24-related transient neonatal
• Diabetes mellitus, Addison's disease, myxedema
• Diabetes mellitus, insulin dependent- not a rare disease.
• Diabetes mellitus, insulin-resistant, with acanthosis nigricans
• Diabetes mellitus, transient neonatal
• Diabetes persistent mullerian ducts
• Diabetes-deafness syndrome, maternally transmitted
• Diabetes-hypogonadism-deafness-intellectual disability syndrome
• Diabetes-pancreatic exocrine dysfunction syndrome
• Diabetic fibrous breast disease
• Diabetic fibrous mastopathy
• Diabetic mastopathy
• Diabetic-bearded woman syndrome
• Diacyclothrombopathia 2B 3A
• Dialysis-related amyloidosis
• Diamond-Blackfan anemia
• Diamond-Blackfan anemia 2
• Diamond-Blackfan anemia 3
• Dianzani autoimmune lymphoproliferative syndrome
• Dianzani form of autoimmune lymphoproliferative disease
• Diaphorase deficiency
• Diaphragmatic agenesis radial aplasia omphalocele
• Diaphragmatic defect limb deficiency skull defect
• Diaphragmatic flutter
• Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
• Diaphragmatic hernia exomphalos corpus callosum agenesis
• Diaphragmatic hernia upper limb defects
• Diaphragmatic hernia, abnormal face, and distal limb anomalies
• Diaphyseal dysplasia 1, progressive
• Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• Diaphyseal sclerosis, multiple
• DIAR1
• Diarrhea 1, secretory chloride, congenital
• Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked
• Diarrheogenic Islet Cell Tumor
• Diastematomyelia
• Diastrophic dwarfism
• Diastrophic dysplasia
• Dibasic aminoaciduria 1
• Dibasic aminoaciduria 2
• Dibasicamino aciduria II
• Dicarboxylic aminoaciduria
• Dicarboxylicaminoaciduria
• DICER1 syndrome
• DICER1-related pleuropulmonary blastoma
• DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
• Dichuchwa
• DI-CMTA
• DI-CMTB
• DI-CMTC
• DI-CMTD
• DI-CMTF
• DIDMOAD
• DIDMOAD syndrome
• Die Smulders Droog Van Dijk syndrome
• Die Smulders Vles Fryns syndrome
• Diencephalic cachexia
• Diencephalic syndrome
• Diencephalic syndrome of childhood
• Diencephalic syndrome of emaciation
• Dienoyl-CoA reductase deficiency
• Dieterich disease
• Dieterich's disease
• Diethylstilbestrol embryofetopathy
• Diethylstilbestrol prenatal exposure
• Diethylstilbestrol syndrome
• Dieulafoy disease
• Dieulafoy lesion
• Dieulafoy's lesion
• Diffuse alopecia- not a rare disease.
• Diffuse astrocytoma
• Diffuse cavernous hemangioma of the rectum
• Diffuse cerebral degeneration in infancy
• Diffuse cerebral sclerosis of Schilder
• Diffuse cutaneous maculopapulous mastocytosis
• Diffuse cutaneous mastocytosis
• Diffuse cutaneous systemic scleroderma
• Diffuse cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis
• Diffuse cystic renal dysplasia
• Diffuse dermal angiomatosis
• Diffuse erythrodermic palmoplantar keratoderma, Vörner type
• 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
• Diffuse Large B-Cell Lymphoma
• Diffuse leiomyomatosis in Alport syndrome
• Diffuse Lewy body disease- not a rare disease.
• Diffuse mesangial sclerosis
• Diffuse neonatal hemangiomatosis
• Diffuse NEPPK
• Diffuse nonepidermolytic palmoplantar keratoderma
• Diffuse palmoplantar keratoderma with deafness (subtype)
• Diffuse palmoplantar keratoderma, Bothnian type
• Diffuse panbronchiolitis
• Diffuse peritoneal leiomyomatosis
• Diffuse pigmented villonodular synovitis
• Diffuse uveitis
• Diffuse-type GCT
• Diffuse-type giant cell tumor
• DIG
• DiGeorge syndrome
• Digestive System Melanoma
• Digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a
• Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum
• Digitate dermatosis
• Digitorenocerebral syndrome
• Digitotalar dysmorphism
• Dihydrofolate reductase deficiency
• Dihydrolipoamide dehydrogenase deficiency
• Dihydropteridine reductase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency- not a rare disease.
• Dihydropyrimidinuria
• Dihydrotestosterone receptor deficiency
• Dihydroxyacetonephosphate acyltransferase deficiency
• Dihydroxyadeninuria
• Dilantin Embryopathy
• Dilated cardiomyopathy
• Dilated cardiomyopathy with ataxia
• Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Dilated cardiomyopathy, familial
• Dilated cardiomyopathy-1S
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
• Dilutional hyponatremia- not a rare disease.
• Dimyelia
• Diomedi Bernardi Placidi syndrome
• Dionisi Vici Sabetta Gambarara syndrome
• Dipetalonema infections
• Dipetalonemiasis
• DIPG
• Diphallia
• Diphallus
• Diphallus rachischisis imperforate anus
• Diphosphoglycerate mutase deficiency of erythrocyte
• Diphtheria
• Diploid/triploid mixoploidy
• Diploid/triploid mosaicism
• Diploid-triploid mosaicism
• Diplomyelia
• DIPNECH
• Diprosopia
• Dipsogenic diabetes insipidus
• DIRA
• Dirofilariasis
• Disaccharide intolerance, 1
• DiSala syndrome
• Discoid lupus- not a rare disease.
• Disembarkment syndrome
• DISH- not a rare disease.
• DISH Forestier's disease- not a rare disease.
• Dislocation of the hip dysmorphism
• Disomy Y
• Disorder of cornification 11 (phytanic acid type)
• Disorder of cornification 12 (neutral lipid storage type)
• Disorder of isoleucine metabolism
• Disorder of peroxisomal alpha-, beta- and omega-oxidation
• Disorder of peroxisomal function- not a rare disease.
• Disorder of sex development intellectual disability
• Disorder of valine metabolism
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase
• DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
• Disorders of Intracellular Cobalamin Metabolism
• Disorders of peroxisome biogenesis
• Disorders with deficiency of a single peroxisomal enzyme
• Displaced spleen
• Dissecting cellulitis of the scalp
• Disseminated aseptic abscesses
• Disseminated infection with mycobacterium avium complex
• Disseminated lupus erythematosus- not a rare disease.
• Disseminated nonossifying fibromas in association with cafe-au-lait spots
• Disseminated peritoneal leiomyomatosis
• Disseminated superficial actinic porokeratosis
• Disseminated superficial actinic porokeratosis 2
• Dissociative seizures
• Distal 17p13.1 microdeletion syndrome
• Distal 18q-
• Distal 18q deletion
• Distal 18q deletion syndrome
• Distal 3p deletion
• Distal arthrogryposis
• Distal arthrogryposis type 1
• Distal arthrogryposis type 1A (sub-type)
• Distal arthrogryposis type 1B (sub-type)
• Distal arthrogryposis type 2A
• Distal arthrogryposis type 2B
• Distal arthrogryposis type 3
• Distal arthrogryposis type 5
• Distal arthrogryposis type 5 without ophthalmoparesis
• Distal arthrogryposis type 5 without ophthalmoplegia
• Distal arthrogryposis type 5D
• Distal arthrogryposis type 6
• Distal arthrogryposis type 7
• Distal arthrogryposis type 8
• Distal arthrogryposis type 9
• Distal arthrogryposis type IIB
• Distal arthrogryposis type IIB
• Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
• Distal arthrogryposis with ophthalmoplegia
• Distal chromosome 18q deletion syndrome
• Distal Del(17)(p13.1)
• Distal deletion 4p
• Distal duplication 16p
• Distal hereditary motor neuropathy
• Distal monosomy 17q
• Distal monosomy 3p
• Distal monosomy 4p
• Distal myopathy 2
• Distal myopathy with rimmed vacuoles
• Distal myopathy with vocal cord weakness
• 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
• Distal trisomy 16p
• Distichiasis heart congenital anomalies
• Distilbene embryofetopathy
• Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
• Distomatosis
• Disturbance of oral sensitivity
• Divided left atrium
• Divided right atrium
• DJS
• DK phocomelia syndrome
• DK1 DEFICIENCY
• DK1-CDG
• DKC
• DKCA
• DKCB
• DKCX
• DL-ATS
• DLB- not a rare disease.
• DLBCL
• DLD deficiency
• DM1
• DM2
• DMAC
• DMC syndrome
• DMD
• DMDA
• DMDA1
• DMDA2
• D-minus hemolytic uremic syndrome (D-HUS)
• DMRV
• DMS
• DMSD
• DMSMFH
• DMTN
• DNM2-related centronuclear myopathy
• DNM2-related intermediate Charcot-Marie-Tooth neuropathy
• DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
• DOA
• Dobrow syndrome
• Doc 11 (phytanic acid type)
• DOCK2 Deficiency
• DOCK8 deficiency
• DOLICHOL KINASE DEFICIENCY
• Dolichospondylic dysplasia
• Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
• DOLK-CDG (CDG-Im)
• Dol-P-mannosyltransferase deficiency
• Dominant ano-rectal malformation, nephritis and nerve-deafness
• Dominant carpotarsal osteochondromatosis
• Dominant cleft palate
• Dominant dystrophic epidermolysis bullosa
• Dominant dystrophic epidermolysis bullosa, generalized
• Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis
• Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis
• Dominant optic atrophy
• DOMINANT OPTIC ATROPHY PLUS SYNDROME
• Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy
• Dominant preaxial brachydactyly with hallux varus and thumb abduction
• Dominantly inherited blepharoptosis, high myopia, and ectopia lentis
• Dominantly inherited bone dysplasia with severe eye involvement
• Dominantly inherited craniodiaphyseal dysplasia
• Dominantly inherited keratitis
• Dominantly inherited ptosis, strabismus and ectopic pupils
• Donnai-Barrow syndrome
• Donohue syndrome
• Donovanosis
• DOOR syndrome
• DOORS syndrome
• Doose syndrome
• Dopa decarboxylase deficiency
• DOPA responsive dystonia, autosomal recessive
• Dopamine beta hydroxylase deficiency
• Dopamine beta-hydroxylase deficiency, congenital
• Dopamine transporter deficiency syndrome
• Dopa-responsive dystonia
• Dopa-responsive dystonia autosomal dominant Segawa syndrome
• DOPA-responsive dystonia, with or without hyperphenylalaninemia
• Dorfman Chanarin syndrome
• Dosage-sensitive sex reversal
• Double cortex
• Double cortex syndrome
• Double discordia
• Double fingernail of fifth finger
• Double heterozygotes sickling disorder
• Double inferior vena cava- not a rare disease.
• Double IVC- 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
• Double tooth
• Double upper lip, blepharochalasis and enlargement of the thyroid
• Double uterus-hemivagina-renal agenesis
• Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype
• Double Y
• Double Y syndrome
• Dowling-Degos disease
• Dowling-Degos Kitamura disease
• Dowling-Meara type epidermolysis bullosa simplex
• Down syndrome- not a rare disease.
• Down's syndrome- not a rare disease.
• Doxorubicin induced cardiomyopathy
• Doyne honeycomb degeneration of retina
• Doyne honeycomb retinal dystrophy
• DPAGT1-CDG
• DPAGT1-CDG (CDG-Ij)
• DPAGT1-CDG (CDG-Ij)
• DPB
• DPD deficiency- not a rare disease.
• DPD1
• DPED
• DPH Deficiency
• DPL
• D-plus hemolytic uremic syndrome (D+HUS)
• DPM1-CDG
• DPM1-CDG (CDG-Ie)
• DPM1-CDG (CDG-Ie)
• DPM2-CDG
• DPM3-CDG
• DPM3-CDG (CDG-Io)
• DPR
• DPYS Deficiency
• DR syndrome
• DRA
• Drachtman Weinblatt Sitarz syndrome
• Dracunculiasis
• Drash syndrome
• Dravet syndrome
• DRESS syndrome
• Drifting spleen
• DRPLA
• DRRS
• DRS
• Drug induced dyskinesia- not a rare disease.
• Drug rash with eosinophilia and systemic symptoms
• Drug reaction eosinophilic systemic syndrome
• Drug reaction with eosinophilia and systemic symptoms
• Drug-induced gigantomastia (subtype)
• Drug-induced localized lipodystrophy (subtype)
• Drug-induced Stevens Johnson syndrome
• Dry eye syndrome- not a rare disease.
• Dry skin, photophobia hyperkeratosis, abnormal fingernails
• DSAP
• DSAP1
• DSAP2
• DSH
• DSH1
• dSMA - Another name for Distal hereditary motor neuropathy
• DSMA1
• DSN
• DSRCT
• DSS
• DSS
• DTD
• DTDP1
• DTDP2
• DTDS
• DTGA
• Du pan syndrome
• Duane anomaly
• Duane anomaly with radial abnormalities and deafness
• Duane retraction syndrome
• Duane retraction syndrome 1
• Duane retraction syndrome 2
• Duane retraction syndrome 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
• Dubowitz syndrome
• Duchenne muscular dystrophy
• Duchenne-like autosomal recessive muscular dystrophy, type 2
• Duchenne-like muscular dystrophy, autosomal recessive, type 1
• DUH
• Duhring Brocq disease
• Duhring-Brocq disease
• Duhring's disease
• Duker Weiss Siber syndrome
• Dunbar syndrome
• Duncan disease
• Dunnigan syndrome
• Duodenal atresia
• Duodenal atresia tetralogy of Fallot
• Duodenal carcinoid syndrome
• Duodenal stenosis
• Duodenal ulcer due to antral G-cell hyperfunction
• Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
• Dup(16)(p13.11)
• Dup(16)(p13.3)
• Dup(17)(q12)
• Dup(17p)
• Dup(7)(q11.23)
• Dup(8)(q12)
• Dup(X)(p11.22p11.23)
• Duplication 10p
• Duplication 10q
• Duplication 11p
• Duplication 11q
• Duplication 12p
• Duplication 12q
• Duplication 13q
• Duplication 14q
• Duplication 15q
• Duplication 16p
• Duplication 16q
• Duplication 17p
• Duplication 17p11.2 syndrome
• Duplication 17q
• Duplication 18p
• Duplication 18q
• Duplication 19p
• Duplication 19q
• Duplication 1p
• Duplication 20p
• Duplication 20q
• Duplication 21q
• Duplication 2p
• Duplication 2q
• Duplication 3p
• Duplication 3q
• Duplication 4p
• Duplication 4q
• Duplication 5p
• Duplication 5q
• Duplication 6p
• Duplication 6q
• Duplication 7p
• Duplication 7q
• Duplication 8p
• Duplication 8q
• Duplication 9p
• Duplication 9q
• Duplication of leg mirror foot
• Duplication of the thumb unilateral biphalangeal
• Duplication of urethra
• Duplication Xq
• Duplication/inversion 15q11
• Dupont Sellier Chochillon syndrome
• Dupuytren subungual exostosis
• DURS1
• DURS2
• Dutch-Kentucky syndrome
• DW 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
• Dwarfism of Sindh
• Dwarfism thanatophoric
• Dwarfism thin bones multiple fractures
• Dwarfism with short, bowed, rigid limbs and characteristic facies
• Dwarfism, cerebral atrophy and generalized keratosis follicularis
• Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
• Dwarfism, lean spastic type
• Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
• Dwarfism, proportionate with hip dislocation
• Dwarfism-eczema-peculiar facies syndrome
• Dwarfism-retinal atrophy-deafness syndrome
• DWM with postaxial polydactyly
• Dyggve-Melchior-Clausen disease
• Dyggve-Melchior-Clausen syndrome
• Dykes Markes Harper syndrome
• DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
• DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
• DYRK1A Syndrome
• DYRK1A-Related Intellectual Disability Syndrome
• Dysautonomia like disorder
• Dysautonomia, familial
• Dysbetalipoproteinemia
• Dyschondrodysplasia with Hemangiomas
• Dyschondroplasia
• Dyschondrosteosis
• Dyschondrosteosis nephritis
• Dyschondrosteosis, homozygous
• Dyschromatosis symmetrica hereditaria
• Dyschromatosis symmetrica hereditaria 1
• Dyschromatosis universalis hereditaria
• Dysembryoplastic neuroepithelial tumor
• Dysencephalia splachnocystica
• Dysequilibrium syndrome
• Dyserythropoietic anemia, and neutrophilic dermatosis
• Dyserythropoietic anemia, congenital
• Dyserythropoietic anemia, congenital type 1
• Dyserythropoietic anemia, congenital type 3
• Dyserythropoietic anemia, HEMPAS type
• Dysferlinopathy
• Dysfibrinogenemia
• Dysfibrinogenemia, familial
• Dysgenesis mesodermalis corneae et sclerae
• Dysgnathia complex
• Dysharmonic skeletal maturation muscular fibre disproportion
• Dyskeratosis congenita
• Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita autosomal recessive
• Dyskeratosis congenita Scoggins type
• Dyskeratosis congenita X-linked
• Dyskinesia, drug induced- not a rare disease.
• Dyskinesia, familial, with facial myokymia
• Dyslipoproteinemic corneal dystrophy
• Dysmorphic facial features and multiple structural abnormalities
• Dysmorphism arthrogryposis skeletal maturation advanced
• Dysmorphism cleft palate loose skin
• Dysmorphism multiple structural anomalies
• Dysmorphism, corpus callosum agenesis and colobomas
• Dysmorphism-pectus carinatum-joint laxity syndrome
• Dysodontogenic epithelial tumor
• Dysosteosclerosis
• Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
• Dysostosis peripheral
• Dysostosis Stanescu type
• Dysphagia sideropenica
• Dysplasia cleidocranial
• Dysplasia epiphysealis hemimelica
• Dysplasia epiphysealis hemimelica with chondromas and osteochondromas
• Dysplasia gigantism syndrome, X-linked
• Dysplasia of nails with hypodontia
• Dysplasia olfactogenitalis of De Morsier (formerly)
• Dysplastic cortical hyperostosis
• Dysplastic gangliocytoma of the cerebellum
• Dyspraxia
• Dysprothrombinemia
• Dysraphism- not a rare disease.
• Dysraphism, cleft lip/palate, limb reduction defects
• Dyssegmental dwarfism Rolland-Desbuquois type
• Dyssegmental dwarfism Silverman-Handmaker type
• Dyssegmental dysplasia and glaucoma
• Dyssegmental dysplasia Rolland-Desbuquois type
• Dyssegmental dysplasia Silverman-Handmaker type
• Dyssynergia cerebellaris myoclonica
• Dyssynergia Cerebellaris Progressiva
• Dystelephalangy
• Dystonia 1
• Dystonia 1, torsion, autosomal dominant
• Dystonia 10
• Dystonia 11
• Dystonia 12
• Dystonia 18
• Dystonia 2, torsion, autosomal recessive
• Dystonia 20, Childhood-Onset
• Dystonia 3, torsion, X-linked
• Dystonia 5
• Dystonia 6
• Dystonia familial, with visual failure and striatal lucencies
• Dystonia musculorum deformans 1
• Dystonia musculorum deformans 4
• Dystonia musculorum deformans type 2
• Dystonia, alcohol responsive
• Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities
• Dystonia, DOPA responsive, autosomal recessive
• Dystonia, juvenile-onset
• Dystonia, progressive, with diurnal variation
• Dystonia-11, myoclonic
• Dystonia-16
• Dystonia-25
• Dystonia-28
• Dystonia-Parkinsonism with diurnal fluctuation
• DYSTONIA-PARKINSONISM, ADULT-ONSET
• Dystonia-parkinsonism, Paisan-Ruiz type
• Dystonia-Parkinsonism, X-linked
• Dystroglycanopathy
• Dystrophia myotonica
• Dystrophia myotonica type 1
• Dystrophia myotonica type 2
• Dystrophia retinae pigmentosa-dysostosis syndrome
• Dystrophic epidermolysis bullosa
• Dystrophic epidermolysis bullosa, autosomal dominant
• Dystrophinopathy
• Dystrophy osseous sclerosing mixed
• DYT/PARK-GCH1
• DYT1
• DYT1 Early-Onset Isolated Dystonia
• DYT11
• DYT12
• DYT16
• DYT18
• DYT2
• DYT25
• DYT28
• DYT29
• DYT3
• DYT4
• DYT5
• DYT6
• DYT-ATP1A3
• DYT-GCH1
• DYT-GCH1 (subtype)
• DYT-GNAL
• DYT-KMT2B
• DYT-MR-1
• DYTOABG
• DYT-PRKRA
• DYT-PRRT2
• DYT-SGCE
• DYT-SLC2A1
• DYT-SPR (subtype)
• DYT-TAF1
• DYT-TH (subtype)
• DYT-THAP1
• DYT-TOR1A
• DYT-TOR1A dystonia
• DYT-TUBB4A

NIH genetic and rare disease info

• NIH info on List of rare diseases-D

List of rare diseases-D is a rare disease.