Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.
D 1/4
- 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 Dilated cardiomyopathy
- DCM - See Diffuse cutaneous mastocytosis
- DCMA syndrome
- DCML - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
- DCO - See Leri Weill dyschondrosteosis
- DCS - See Chanarin-Dorfman syndrome
- DcSSc - See Diffuse cutaneous systemic sclerosis
- DD - See Diastrophic dysplasia
- DDC deficiency - See Aromatic L-amino acid decarboxylase deficiency
- DDCH - See Deafness, dystonia, and cerebral hypomyelination
- DDD - See Dense deposit disease
- DDEB, generalized - See Dominant dystrophic epidermolysis bullosa
- DDEB, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
- DDEB-gen - See Dominant dystrophic epidermolysis bullosa
- DD-I - See Dentin dysplasia, type 1
- DD-II - See Dentin dysplasia, coronal
- DDOD - See Autosomal dominant deafness-onychodystrophy syndrome
- DDOD syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
- DDON syndrome - See Mohr-Tranebjaerg syndrome
- DDOST-CDG - See DDOST-CDG (CDG-Ir)
- DDOST-CDG (CDG-Ir)
- DDP - See Mohr-Tranebjaerg syndrome
- DDRD - See Dyssegmental dysplasia Rolland-Desbuquois type
- DDS - See Mohr-Tranebjaerg syndrome
- DDSH - See Dyssegmental dysplasia Silverman-Handmaker type
- DDX3X-related intellectual disability
- De Barsy syndrome
- De Die-Smulders-Vles-Fryns syndrome - See Arachnodactyly - intellectual disability - dysmorphism
- De la Chapelle dysplasia - See Atelosteogenesis type 2
- De Lange syndrome - See Cornelia de Lange syndrome
- De morsier syndrome - See Septo-optic dysplasia spectrum
- De novo cryptogenic refractory multifocal febrile status epilepticus - See New-onset refractory status epilepticus
- De Quervain tendinopathy - See De Quervain's disease - not a rare disease
- De Quervain's disease - not a rare disease
- De Quervain's syndrome - See De Quervain's disease - not a rare disease
- De Quervain's tendinitis - See De Quervain's disease - not a rare disease
- De Quervain's tendonitis - See De Quervain's disease - not a rare disease
- De Quervains tenosynovitis - See De Quervain's disease - not a rare disease
- De Sanctis-Cacchione syndrome
- De 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
.png)
No hay comentarios:
Publicar un comentario