List of rare diseases-D
From WikiMD's Food, Medicine & Wellness Encyclopedia
NIH genetic and rare disease info[edit source]
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[edit source]
List of rare diseases-D is a rare disease.
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