Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program D/3

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





D/3



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.

• Distal myopathy with vocal cord weakness
• Distal myopathy, Swedish type - See Welander distal myopathy, Swedish type
• Distal primary acidosis, familial
• Distal renal tubular acidosis with hemolytic anemia
• Distal spinal muscular atrophy - Another name for Distal hereditary motor neuropathy
• Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch - See Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Distal trisomy 16p - See Chromosome 16p13.3 duplication
• Distichiasis heart congenital anomalies
• Distilbene embryofetopathy - See Diethylstilbestrol syndrome
• Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development - See Sotos syndrome
• Distomatosis
• Disturbance of oral sensitivity - See Impairment of oral perception
• Divided left atrium - See Cor triatriatum sinister
• Divided right atrium - See Cor triatriatum dexter
• DJS - See Dubin-Johnson syndrome
• DK phocomelia syndrome
• DK1 DEFICIENCY - See DOLK-CDG (CDG-Im)
• DK1-CDG - See DOLK-CDG (CDG-Im)
• DKC - See Dyskeratosis congenita
• DKCA - See Dyskeratosis congenita autosomal dominant
• DKCB - See Dyskeratosis congenita autosomal recessive
• DKCX - See Dyskeratosis congenita X-linked
• DL-ATS - See Leiomyomatosis, esophageal and vulval, with nephropathy
• DLB - See Lewy body dementia - not a rare disease
• DLBCL - See Diffuse Large B-Cell Lymphoma
• DLD deficiency - See Dihydrolipoamide dehydrogenase deficiency
• DM1 - See Myotonic dystrophy type 1
• DM2 - See Myotonic dystrophy type 2
• DMAC - See Disseminated infection with mycobacterium avium complex
• DMC syndrome - See Dyggve-Melchior-Clausen syndrome
• DMD - See Duchenne muscular dystrophy
• DMDA - See Limb-girdle muscular dystrophy, type 2C
• DMDA1 - See Limb-girdle muscular dystrophy, type 2C
• DMDA2 - See Limb-girdle muscular dystrophy, type 2D
• D-minus hemolytic uremic syndrome (D-HUS)
• DMRV - See Inclusion body myopathy 2
• DMS - See Diffuse mesangial sclerosis
• DMSD - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• DMSMFH - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• DMTN - See Transient neonatal diabetes mellitus
• DNM2-related centronuclear myopathy - See Autosomal dominant centronuclear myopathy
• DNM2-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
• DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - See Hereditary sensory and autonomic neuropathy type 1E
• DOA - See Dominant optic atrophy
• Dobrow syndrome
• Doc 11 (phytanic acid type) - See Refsum disease
• DOCK2 Deficiency
• DOCK8 deficiency - See Autosomal recessive hyper IgE syndrome
• DOLICHOL KINASE DEFICIENCY - See DOLK-CDG (CDG-Im)
• Dolichospondylic dysplasia - See 3M syndrome
• Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency - See DPAGT1-CDG (CDG-Ij)
• DOLK-CDG (CDG-Im)
• Dol-P-mannosyltransferase deficiency - See DPM1-CDG (CDG-Ie)
• Dominant ano-rectal malformation, nephritis and nerve-deafness - See Deafness nephritis anorectal malformation
• Dominant carpotarsal osteochondromatosis - See Carpotarsal osteochondromatosis
• Dominant cleft palate
• Dominant dystrophic epidermolysis bullosa
• Dominant dystrophic epidermolysis bullosa, generalized - See Dominant dystrophic epidermolysis bullosa
• Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis - See Davenport Donlan syndrome
• Dominant ichthyosis vulgaris
• Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis - SeeMesomelia-synostoses syndrome
• Dominant optic atrophy
• DOMINANT OPTIC ATROPHY PLUS SYNDROME - See Autosomal dominant optic atrophy plus syndrome
• Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy - See Autosomal dominant optic atrophy plus syndrome
• Dominant preaxial brachydactyly with hallux varus and thumb abduction - See Brachydactyly preaxial with hallux varus and thumb abduction
• Dominantly inherited blepharoptosis, high myopia, and ectopia lentis - See Blepharoptosis myopia ectopia lentis
• Dominantly inherited bone dysplasia with severe eye involvement - See Verloes Van Maldergem Marneffe syndrome
• Dominantly inherited craniodiaphyseal dysplasia - See Schaefer Stein Oshman syndrome
• Dominantly inherited keratitis - See Keratitis, hereditary
• Dominantly inherited ptosis, strabismus and ectopic pupils - See McPherson Robertson Cammarano syndrome
• Donnai-Barrow syndrome
• Donohue syndrome - See Leprechaunism
• Donovanosis - See Granuloma Inguinale
• DOOR syndrome
• DOORS syndrome - See DOOR syndrome
• Doose syndrome - See Epilepsy with myoclonic-atonic seizures
• Dopa decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
• DOPA responsive dystonia, autosomal recessive - See Tyrosine hydroxylase deficiency
• Dopamine beta hydroxylase deficiency
• Dopamine beta-hydroxylase deficiency, congenital - See Dopamine beta hydroxylase deficiency
• Dopamine transporter deficiency syndrome
• Dopa-responsive dystonia
• Dopa-responsive dystonia autosomal dominant Segawa syndrome - See DYT/PARK-GCH1
• DOPA-responsive dystonia, with or without hyperphenylalaninemia - See DYT/PARK-GCH1
• Dorfman Chanarin syndrome - See Chanarin-Dorfman syndrome
• Dosage-sensitive sex reversal
• Double cortex - See Subcortical band heterotopia
• Double cortex syndrome - See Subcortical band heterotopia
• Double discordia
• Double fingernail of fifth finger
• Double heterozygotes sickling disorder - See Hemoglobinopathy
• Double inferior vena cava - not a rare disease
• Double IVC - See Double inferior vena cava - not a rare disease
• Double nails on the fifth toe
• Double outlet left ventricle
• Double outlet right atrium
• Double outlet right ventricle
• Double tachycardia induced by catecholamines - See Catecholaminergic polymorphic ventricular tachycardia
• Double tooth - See Fused mandibular incisors
• Double upper lip, blepharochalasis and enlargement of the thyroid - See Ascher Syndrome
• Double uterus-hemivagina-renal agenesis
• Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype - See Meacham Winn Culler syndrome
• Double Y - See 47, XYY syndrome
• Double Y syndrome - See 47, XYY syndrome
• Dowling-Degos disease
• Dowling-Degos Kitamura disease - See Dowling-Degos disease
• Dowling-Meara type epidermolysis bullosa simplex - See Epidermolysis bullosa simplex, Dowling-Meara type
• Down syndrome - not a rare disease
• Down's syndrome - See Down syndrome - not a rare disease
• Doxorubicin induced cardiomyopathy
• Doyne honeycomb degeneration of retina - See Doyne honeycomb retinal dystrophy
• Doyne honeycomb retinal dystrophy
• DPAGT1-CDG - See DPAGT1-CDG (CDG-Ij)
• DPAGT1-CDG (CDG-Ij) - See DPAGT1-CDG (CDG-Ij)
• DPAGT1-CDG (CDG-Ij)
• DPB - See Diffuse panbronchiolitis
• DPD deficiency - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• DPD1 - See Camurati-Engelmann disease
• DPED - See Maturity-onset diabetes of the young
• DPH Deficiency - See Dihydropyrimidinase deficiency
• DPL - See Disseminated peritoneal leiomyomatosis
• D-plus hemolytic uremic syndrome (D+HUS)
• DPM1-CDG - See DPM1-CDG (CDG-Ie)
• DPM1-CDG (CDG-Ie) - See DPM1-CDG (CDG-Ie)
• DPM1-CDG (CDG-Ie)
• DPM2-CDG
• DPM3-CDG - See DPM3-CDG (CDG-Io)
• DPM3-CDG (CDG-Io)
• DPR - See Dermatopathia pigmentosa reticularis
• DPYS Deficiency - See Dihydropyrimidinase deficiency
• DR syndrome - See Duane-radial ray syndrome
• DRA - See Amyloidosis Beta2M
• Drachtman Weinblatt Sitarz syndrome
• Dracunculiasis
• Drash syndrome - See Denys-Drash syndrome
• Dravet syndrome
• DRESS syndrome - See Drug reaction with eosinophilia and systemic symptoms
• Drifting spleen - See Wandering spleen
• DRPLA - See Dentatorubral-pallidoluysian atrophy
• DRRS - See Duane-radial ray syndrome
• DRS - See Duane syndrome
• Drug induced dyskinesia - not a rare disease
• Drug rash with eosinophilia and systemic symptoms - See Drug reaction with eosinophilia and systemic symptoms
• Drug reaction eosinophilic systemic syndrome - See Drug reaction with eosinophilia and systemic symptoms
• Drug reaction with eosinophilia and systemic symptoms
• Drug-induced gigantomastia (subtype) - See Gigantomastia
• Drug-induced localized lipodystrophy (subtype) - See Localized lipodystrophy
• Drug-induced Stevens Johnson syndrome - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Dry eye syndrome - See Keratoconjunctivitis sicca - not a rare disease
• Dry skin, photophobia hyperkeratosis, abnormal fingernails - See Judge Misch Wright syndrome
• DSAP - See Disseminated superficial actinic porokeratosis
• DSAP1 - See Porokeratosis, disseminated superficial actinic 1
• DSAP2 - See Porokeratosis, disseminated superficial actinic 2
• DSH - See Dyschromatosis symmetrica hereditaria 1
• DSH1 - See Dyschromatosis symmetrica hereditaria 1
• dSMA - Another name for Distal hereditary motor neuropathy
• DSMA1 - See Spinal muscular atrophy with respiratory distress 1
• DSN - See Hypertrophic neuropathy of Dejerine-Sottas
• DSRCT - See Desmoplastic small round cell tumor
• DSS - See Dosage-sensitive sex reversal
• DSS - See Hypertrophic neuropathy of Dejerine-Sottas
• DTD - See Diastrophic dysplasia
• DTDP1 - See Dentin dysplasia, type 1
• DTDP2 - See Dentin dysplasia, coronal
• DTDS - See Dopamine transporter deficiency syndrome
• DTGA - See Transposition of the great arteries
• Du pan syndrome - See Fibular hypoplasia and complex brachydactyly
• Duane anomaly - See Duane syndrome
• Duane anomaly with radial abnormalities and deafness - See Duane-radial ray syndrome
• Duane retraction syndrome - See Duane syndrome
• Duane retraction syndrome 1 - See Duane syndrome type 1
• Duane retraction syndrome 2 - See Duane syndrome type 2
• Duane retraction syndrome 3 - See Duane syndrome type 3
• Duane syndrome
• Duane syndrome type 1
• Duane syndrome type 2
• Duane syndrome type 3
• Duane-radial ray syndrome
• Duarte Galactosemia
• Dubin-Johnson syndrome
• Dubowitz disease - See Spinal muscular atrophy type 2
• Dubowitz syndrome
• Duchenne muscular dystrophy
• Duchenne-like autosomal recessive muscular dystrophy, type 2 - See Limb-girdle muscular dystrophy, type 2D
• Duchenne-like muscular dystrophy, autosomal recessive, type 1 - See Limb-girdle muscular dystrophy, type 2C
• DUH - See Dyschromatosis universalis hereditaria
• Duhring Brocq disease - See Dermatitis herpetiformis
• Duhring-Brocq disease - See Dermatitis herpetiformis
• Duhring's disease - See Dermatitis herpetiformis
• Duker Weiss Siber syndrome
• Dunbar syndrome - See Celiac artery compression syndrome
• Duncan disease - See X-linked lymphoproliferative syndrome
• Dunnigan syndrome - See Familial partial lipodystrophy type 2
• Duodenal atresia
• Duodenal atresia tetralogy of Fallot
• Duodenal carcinoid syndrome
• Duodenal stenosis - See Duodenal atresia
• Duodenal ulcer due to antral G-cell hyperfunction
• Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
• Dup(16)(p13.11) - See 16p13.11 microduplication syndrome
• Dup(16)(p13.3) - See Chromosome 16p13.3 duplication
• Dup(17)(q12) - See 17q12 duplication
• Dup(17p) - See Chromosome 17p duplication
• Dup(7)(q11.23) - See 7q11.23 duplication syndrome
• Dup(8)(q12) - See 8q12 microduplication syndrome
• Dup(X)(p11.22p11.23) - See Microduplication Xp11.22-p11.23 syndrome
• Duplication 10p - See Chromosome 10p duplication
• Duplication 10q - See Chromosome 10q duplication
• Duplication 11p - See Chromosome 11p duplication
• Duplication 11q - See Chromosome 11q duplication
• Duplication 12p - See Chromosome 12p duplication
• Duplication 12q - See Chromosome 12q duplication
• Duplication 13q - See Chromosome 13q duplication
• Duplication 14q - See Chromosome 14q duplication
• Duplication 15q - See Chromosome 15q duplication
• Duplication 16p - See Chromosome 16p duplication
• Duplication 16q - See Chromosome 16q duplication
• Duplication 17p - See Chromosome 17p duplication
• Duplication 17p11.2 syndrome - See Potocki-Lupski syndrome
• Duplication 17q - See Chromosome 17q duplication
• Duplication 18p - See Chromosome 18p duplication
• Duplication 18q - See Chromosome 18q duplication
• Duplication 19p - See Chromosome 19p duplication
• Duplication 19q - See Chromosome 19q duplication
• Duplication 1p - See Chromosome 1p duplication
• Duplication 20p - See Chromosome 20p duplication
• Duplication 20q - See Chromosome 20q duplication
• Duplication 21q - See Chromosome 21q duplication
• Duplication 2p - See Chromosome 2p duplication
• Duplication 2q - See Chromosome 2q duplication
• Duplication 3p - See Chromosome 3p duplication
• Duplication 3q - See Chromosome 3q duplication
• Duplication 4p - See Chromosome 4p duplication
• Duplication 4q - See Chromosome 4q duplication
• Duplication 5p - See Chromosome 5p duplication
• Duplication 5q - See Chromosome 5q duplication
• Duplication 6p - See Chromosome 6p duplication
• Duplication 6q - See Chromosome 6q duplication
• Duplication 7p - See Chromosome 7p duplication
• Duplication 7q - See Chromosome 7q duplication
• Duplication 8p - See Chromosome 8p duplication
• Duplication 8q - See Chromosome 8q duplication
• Duplication 9p - See Chromosome 9p duplication
• Duplication 9q - See Chromosome 9q duplication
• Duplication of leg mirror foot
• Duplication of the thumb unilateral biphalangeal
• Duplication of urethra
• Duplication Xq - See Chromosome Xq duplication
• Duplication/inversion 15q11 - See Isodicentric chromosome 15 syndrome
• Dupont Sellier Chochillon syndrome
• Dupuytren subungual exostosis
• DURS1 - See Duane syndrome type 1
• DURS2 - See Duane syndrome type 2
• Dutch-Kentucky syndrome - See Trismus-pseudocamptodactyly syndrome
• DW complex - See Dandy-Walker complex
• Dwarfism - not a rare disease
• Dwarfism bluish sclerae
• Dwarfism deafness retinitis pigmentosa
• Dwarfism familial with muscle spasms
• Dwarfism lethal type advanced bone age
• Dwarfism Levi type
• Dwarfism Levi's type - See Dwarfism Levi type
• Dwarfism of Sindh - See Isolated growth hormone deficiency type 1B
• Dwarfism thanatophoric - See Thanatophoric dysplasia
• Dwarfism thin bones multiple fractures
• Dwarfism with short, bowed, rigid limbs and characteristic facies - See Boomerang dysplasia
• Dwarfism, cerebral atrophy and generalized keratosis follicularis - See Keratosis follicularis dwarfism and cerebral atrophy
• Dwarfism, cortical thickening of tubular bones and transient hypocalcemia - See Kenny-Caffey syndrome type 2
• Dwarfism, lean spastic type - See Coffin syndrome 1
• Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
• Dwarfism, proportionate with hip dislocation
• Dwarfism-eczema-peculiar facies syndrome - See Dubowitz syndrome
• Dwarfism-retinal atrophy-deafness syndrome - See Cockayne syndrome
• DWM with postaxial polydactyly - See Dandy-Walker malformation with postaxial polydactyly
• Dyggve-Melchior-Clausen disease - See Dyggve-Melchior-Clausen syndrome
• Dyggve-Melchior-Clausen syndrome
• Dykes Markes Harper syndrome
• DYRK1A Syndrome - See DYRK1A-Related Intellectual Disability Syndrome
• DYRK1A-Related Intellectual Disability Syndrome
• Dysautonomia like disorder
• Dysautonomia, familial - See Familial dysautonomia
• Dysbetalipoproteinemia - See Hyperlipidemia type 3
• Dyschondrodysplasia with Hemangiomas - See Maffucci syndrome
• Dyschondroplasia - See Ollier disease
• Dyschondrosteosis - See Leri Weill dyschondrosteosis
• Dyschondrosteosis nephritis
• Dyschondrosteosis, homozygous - See Langer mesomelic dysplasia
• Dyschromatosis symmetrica hereditaria - See Dyschromatosis symmetrica hereditaria 1
• Dyschromatosis symmetrica hereditaria 1
• Dyschromatosis universalis hereditaria
• Dysembryoplastic neuroepithelial tumor
• Dysencephalia splachnocystica - See Meckel syndrome
• Dysequilibrium syndrome
• Dyserythropoietic anemia, and neutrophilic dermatosis - See Majeed syndrome
• Dyserythropoietic anemia, congenital - See Congenital dyserythropoietic anemia
• Dyserythropoietic anemia, congenital type 1 - See Congenital dyserythropoietic anemia type 1
• Dyserythropoietic anemia, congenital type 3 - See Congenital dyserythropoietic anemia type 3
• Dyserythropoietic anemia, HEMPAS type - See Congenital dyserythropoietic anemia type 2
• Dysferlinopathy
• Dysfibrinogenemia
• Dysfibrinogenemia, familial - See Dysfibrinogenemia
• Dysfunction of the fifth component of complement (C5) - See Leiner disease
• Dysgenesis mesodermalis corneae et sclerae - See Brittle cornea syndrome
• Dysgnathia complex
• Dysharmonic skeletal maturation muscular fibre disproportion - See Qazi Markouizos syndrome
• Dyskeratosis congenita
• Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita autosomal recessive
• Dyskeratosis congenita Scoggins type - See Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita X-linked
• Dyskinesia, drug induced - See Drug induced dyskinesia - not a rare disease
• Dyskinesia, familial, with facial myokymia - See ADCY5-related dyskinesia
• Dyslipoproteinemic corneal dystrophy - See Fish-eye disease
• Dysmorphic facial features and multiple structural abnormalities - See Thakker-Donnai syndrome
• Dysmorphism arthrogryposis skeletal maturation advanced - See Spondylometaphyseal dysplasia, Kozlowski type
• Dysmorphism cleft palate loose skin
• Dysmorphism multiple structural anomalies - See Thakker-Donnai syndrome
• Dysmorphism, corpus callosum agenesis and colobomas - See Temtamy syndrome
• Dysmorphism-pectus carinatum-joint laxity syndrome - See Guizar Vasquez Sanchez Manzano syndrome
• Dysodontogenic epithelial tumor - See Craniopharyngioma
• Dysosteosclerosis
• Dysostosis acral with facial and genital abnormalities
• Dysostosis enchondralis metaepiphysaria, Catel-Hempel type - See Schwartz Jampel syndrome
• Dysostosis peripheral
• Dysostosis Stanescu type - See Craniofacial dysostosis with diaphyseal hyperplasia
• Dysphagia sideropenica - See Plummer Vinson syndrome
• Dysplasia cleidocranial - See Cleidocranial dysplasia
• Dysplasia epiphysealis hemimelica
• Dysplasia epiphysealis hemimelica with chondromas and osteochondromas - See Carpotarsal osteochondromatosis
• Dysplasia gigantism syndrome, X-linked - See Simpson-Golabi-Behmel syndrome
• Dysplasia of nails with hypodontia - See Witkop syndrome
• Dysplasia olfactogenitalis of De Morsier (formerly) - See Kallmann syndrome
• Dysplastic cortical hyperostosis
• Dysplastic gangliocytoma of the cerebellum - See Lhermitte-Duclos disease
• Dyspraxia - See Apraxia
• Dysprothrombinemia - See Prothrombin deficiency
• Dysraphism - See Neural tube defects - not a rare disease
• Dysraphism, cleft lip/palate, limb reduction defects - See Medeira-Dennis-Donnai syndrome
• Dyssegmental dwarfism Rolland-Desbuquois type - See Dyssegmental dysplasia Rolland-Desbuquois type
• Dyssegmental dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker type
• Dyssegmental dysplasia and glaucoma
• Dyssegmental dysplasia Rolland-Desbuquois type
• Dyssegmental dysplasia Silverman-Handmaker type
• Dyssynergia cerebellaris myoclonica
• Dyssynergia Cerebellaris Progressiva - See Dyssynergia cerebellaris myoclonica
• Dystelephalangy
• Dystonia 1 - See DYT-TOR1A
• Dystonia 1, torsion, autosomal dominant - See DYT-TOR1A
• Dystonia 10 - See Paroxysmal kinesigenic choreoathetosis
• Dystonia 11 - See Myoclonus-dystonia
• Dystonia 12 - See Rapid-onset dystonia-parkinsonism
• Dystonia 18 - See Paroxysmal exertion-induced dyskinesia
• Dystonia 2, torsion, autosomal recessive
• Dystonia 20, Childhood-Onset - See MEPAN syndrome
• Dystonia 3, torsion, X-linked - See X-linked dystonia-parkinsonism/Lubag
• Dystonia 5 - See Dopa-responsive dystonia
• Dystonia 6 - See DYT-THAP1
• Dystonia familial, with visual failure and striatal lucencies - See Leber hereditary optic neuropathy with dystonia
• Dystonia musculorum deformans 1 - See DYT-TOR1A
• Dystonia musculorum deformans 4 - See DYT-TUBB4A
• Dystonia musculorum deformans type 2 - See Dystonia 2, torsion, autosomal recessive
• Dystonia, alcohol responsive - See Myoclonus-dystonia
• Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities - See MEPAN syndrome
• Dystonia, DOPA responsive, autosomal recessive - See Tyrosine hydroxylase deficiency
• Dystonia, juvenile-onset - See Juvenile-onset dystonia
• Dystonia, progressive, with diurnal variation - See Dopa-responsive dystonia
• Dystonia-11, myoclonic - See Myoclonus-dystonia
• Dystonia-16 - See DYT-PRKRA
• Dystonia-25 - See DYT-GNAL
• Dystonia-28 - See DYT-KMT2B
• Dystonia-Parkinsonism with diurnal fluctuation - See Dopa-responsive dystonia
• DYSTONIA-PARKINSONISM, ADULT-ONSET - See NBIA/DYT/PARK-PLA2G6
• Dystonia-parkinsonism, Paisan-Ruiz type - See NBIA/DYT/PARK-PLA2G6
• Dystonia-Parkinsonism, X-linked - See X-linked dystonia-parkinsonism/Lubag
• Dystroglycanopathy - See Congenital muscular dystrophy
• Dystrophia myotonica - See Myotonic dystrophy
• Dystrophia myotonica type 1 - See Myotonic dystrophy type 1
• Dystrophia myotonica type 2 - See Myotonic dystrophy type 2
• Dystrophia retinae pigmentosa-dysostosis syndrome - See Usher syndrome
• Dystrophic epidermolysis bullosa
• Dystrophic epidermolysis bullosa, autosomal dominant - See Dominant dystrophic epidermolysis bullosa
• Dystrophinopathy
• Dystrophy osseous sclerosing mixed - See MSBD syndrome
• DYT/PARK-GCH1
• DYT1 - See DYT-TOR1A
• DYT1 Early-Onset Isolated Dystonia - See DYT-TOR1A
• DYT11 - See Myoclonus-dystonia
• DYT12 - See Rapid-onset dystonia-parkinsonism
• DYT16 - See DYT-PRKRA
• DYT18 - See Paroxysmal exertion-induced dyskinesia
• DYT2 - See Dystonia 2, torsion, autosomal recessive
• DYT25 - See DYT-GNAL
• DYT28 - See DYT-KMT2B
• DYT29 - See MEPAN syndrome
• DYT3 - See X-linked dystonia-parkinsonism/Lubag
• DYT4 - See DYT-TUBB4A
• DYT5 - See Dopa-responsive dystonia
• DYT6 - See DYT-THAP1
• DYT-ATP1A3 - See Rapid-onset dystonia-parkinsonism
• DYT-GCH1 - See DYT/PARK-GCH1
• DYT-GCH1 (subtype) - See Dopa-responsive dystonia
• DYT-GNAL
• DYT-KMT2B
• DYT-MR-1 - See Paroxysomal nonkinesigenic dyskinesia
• DYTOABG - See MEPAN syndrome
• DYT-PRKRA
• DYT-PRRT2 - See Paroxysmal kinesigenic choreoathetosis
• DYT-SGCE - See Myoclonus-dystonia
• DYT-SLC2A1 - See Paroxysmal exertion-induced dyskinesia
• DYT-SPR (subtype) - See Dopa-responsive dystonia
• DYT-TAF1 - See X-linked dystonia-parkinsonism/Lubag
• DYT-TH (subtype) - See Dopa-responsive dystonia
• DYT-THAP1
• DYT-TOR1A
• DYT-TOR1A dystonia - See DYT-TOR1A
• DYT-TUBB4A