Genetic diseases-D

• D-bifunctional protein deficiency
• D-glycerate dehydrogenase deficiency see Primary hyperoxaluria
• DA1 see Distal arthrogryposis type 1
• DA2A see Freeman-Sheldon syndrome
• DA2B see Sheldon-Hall syndrome
• DA9 see Congenital contractural arachnodactyly
• dacryosialoadenopathia atrophicans see Sjögren syndrome
• DACS see Congenital stromal corneal dystrophy
• DADA2 see Adenosine deaminase 2 deficiency
• dairy product intolerance see Lactose intolerance
• Dandy-Walker complex see Dandy-Walker malformation
• Dandy-Walker cyst see Dandy-Walker malformation
• Dandy-Walker deformity see Dandy-Walker malformation
• Dandy-Walker malformation
• Dandy-Walker syndrome see Dandy-Walker malformation
• Danon disease
• Dappled metaphysis syndrome see Spondyloepimetaphyseal dysplasia, Strudwick type
• Darier disease
• Darier's Disease see Darier disease
• Darier-Ferrand tumor see Dermatofibrosarcoma protuberans
• Darier-Hoffmann tumor see Dermatofibrosarcoma protuberans
• Darier-White disease see Darier disease
• dark dot disease see Dowling-Degos disease
• DAT see Alzheimer disease
• Davidson disease see Microvillus inclusion disease
• DBA see Diamond-Blackfan anemia
• DBMD see Duchenne and Becker muscular dystrophy
• DBP deficiency see D-bifunctional protein deficiency
• DBS see Donnai-Barrow syndrome
• DBS/FOAR syndrome see Donnai-Barrow syndrome
• DC syndrome see Subcortical band heterotopia
• DCMA see Dilated cardiomyopathy with ataxia syndrome
• DCMA syndrome see Dilated cardiomyopathy with ataxia syndrome
• DCO see Léri-Weill dyschondrosteosis
• DDC deficiency see Aromatic l-amino acid decarboxylase deficiency
• DDD see Dowling-Degos disease
• DDD see C3 glomerulopathy
• DDD/MPGNII see C3 glomerulopathy
• DDPAC see Frontotemporal dementia with parkinsonism-17
• DDS see Denys-Drash syndrome
• DDU see Vibratory urticaria
• De Grouchy syndrome see Distal 18q deletion syndrome
• De la Chapelle dysplasia see Atelosteogenesis type 2
• de Lange syndrome see Cornelia de Lange syndrome
• De Morsier syndrome see Septo-optic dysplasia
• de Toni-Caffey disease see Caffey disease
• De Vivo disease see GLUT1 deficiency syndrome
• deafness and myopia see Deafness and myopia syndrome
• Deafness and myopia syndrome
• deafness and pili torti, Bjornstad type see Björnstad syndrome
• deafness due to old age see Age-related hearing loss
• deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency see Deafness-dystonia-optic neuronopathy syndrome
• deafness with goiter see Pendred syndrome
• deafness with LAMM see Congenital deafness with labyrinthine aplasia, microtia, and microdontia
• deafness, cochlear, plus see Deafness and myopia syndrome
• deafness, congenital, and functional heart disease see Jervell and Lange-Nielsen syndrome
• deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome see DOORS syndrome
• deafness-dystonia-optic atrophy syndrome see Deafness-dystonia-optic neuronopathy syndrome
• Deafness-dystonia-optic neuronopathy syndrome
• deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
• deafness-infertility syndrome see Sensorineural deafness and male infertility
• deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome see DOORS syndrome
• deafness-onychoosteodystrophy-intellectual disability syndrome see DOORS syndrome
• deafness-retinitis pigmentosa syndrome see Usher syndrome
• debrancher deficiency see Glycogen storage disease type III
• decorin-associated congenital stromal corneal dystrophy see Congenital stromal corneal dystrophy
• deep fibromatosis see Desmoid tumor
• defect of enterocyte intrinsic factor receptor see Imerslund-Gräsbeck syndrome
• defective color vision see Color vision deficiency
• deficiency disease, phenylalanine hydroxylase see Phenylketonuria
• deficiency mutase phosphoglycerate see Phosphoglycerate mutase deficiency
• deficiency of 3-hydroxyacyl-CoA dehydrogenase see 3-hydroxyacyl-CoA dehydrogenase deficiency
• deficiency of 3beta-hydroxysterol delta24-reductase see Desmosterolosis
• deficiency of acyl-CoA dehydrogenase family member 9 see ACAD9 deficiency
• deficiency of ADA2 see Adenosine deaminase 2 deficiency
• Deficiency of alkaline phosphatase see Hypophosphatasia
• deficiency of alpha-glucosidase see Pompe disease
• deficiency of alpha-mannosidase see Alpha-mannosidosis
• deficiency of aromatic-L-amino-acid decarboxylase see Aromatic l-amino acid decarboxylase deficiency
• deficiency of beta-ureidopropionase see Beta-ureidopropionase deficiency
• deficiency of butyryl-CoA dehydrogenase see Short-chain acyl-CoA dehydrogenase deficiency
• deficiency of butyrylcholine esterase see Pseudocholinesterase deficiency
• deficiency of cathepsin A see Galactosialidosis
• deficiency of cytochrome-b5 reductase see Autosomal recessive congenital methemoglobinemia
• deficiency of factor XIII see Factor XIII deficiency
• deficiency of ferroxidase see Aceruloplasminemia
• deficiency of glucose-6-phosphate dehydrogenase see Glucose-6-phosphate dehydrogenase deficiency
• deficiency of glutathione synthase see Glutathione synthetase deficiency
• deficiency of glutathione synthetase see Glutathione synthetase deficiency
• deficiency of glycoprotein complex IIb-IIIa see Glanzmann thrombasthenia
• deficiency of guanidinoacetate methyltransferase see Guanidinoacetate methyltransferase deficiency
• deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
• Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
• deficiency of isobutyryl-CoA dehydrogenase see Isobutyryl-CoA dehydrogenase deficiency
• deficiency of lactate dehydrogenase see Lactate dehydrogenase deficiency
• deficiency of luteinizing hormone-releasing hormone with ataxia see Gordon Holmes syndrome
• deficiency of malonyl-CoA decarboxylase see Malonyl-CoA decarboxylase deficiency
• Deficiency of methionine adenosyltransferase see Hypermethioninemia
• Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-CoA carboxylase deficiency
• deficiency of molybdenum cofactor see Molybdenum cofactor deficiency
• deficiency of monoamine oxidase A see Monoamine oxidase A deficiency
• deficiency of N-acetylglucosamine-phosphate mutase 1 see PGM3-congenital disorder of glycosylation
• deficiency of N-glycanase 1 see NGLY1-congenital disorder of deglycosylation
• deficiency of phosphoglucomutase 3 see PGM3-congenital disorder of glycosylation
• deficiency of phosphotriose isomerase see Triosephosphate isomerase deficiency
• deficiency of platelet fibrinogen receptor see Glanzmann thrombasthenia
• deficiency of platelet glycoprotein 1b see Bernard-Soulier syndrome
• deficiency of steroid 11-beta-monooxygenase see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• deficiency of steroid 17-alpha-monooxygenase see 17 alpha-hydroxylase/17,20-lyase deficiency
• deficiency of the aminoacylase-1 enzyme see Aminoacylase 1 deficiency
• deficiency of the interleukin-36 receptor antagonist see Generalized pustular psoriasis
• deficiency, Laki-Lorand factor see Factor XIII deficiency
• deficient alpha granule syndrome see Gray platelet syndrome
• degenerative joint disease see Osteoarthritis
• degenerative polyarthritis see Osteoarthritis
• degenerative retinoschisis see X-linked juvenile retinoschisis
• del(18q) syndrome see Distal 18q deletion syndrome
• del(18q) syndrome see Proximal 18q deletion syndrome
• del(3p) syndrome see 3p deletion syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• deletion 17p syndrome see Smith-Magenis syndrome
• deletion 17q12 see 17q12 deletion syndrome
• deletion 22q11.2 syndrome see 22q11.2 deletion syndrome
• deletion 22q13 syndrome see 22q13.3 deletion syndrome
• deletion 22q13.3 syndrome see 22q13.3 deletion syndrome
• deletion 2q37 see 2q37 deletion syndrome
• deletion 3p see 3p deletion syndrome
• dementia of the Lewy body type see Dementia with Lewy bodies
• dementia praecox see Schizophrenia
• dementia with amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis
• Dementia with Lewy bodies
• dementia, Lewy body see Dementia with Lewy bodies
• demyelinogenic leukodystrophy see Alexander disease
• dense deposit disease see C3 glomerulopathy
• Dent disease
• Dent's disease see Dent disease
• Dentatorubral-pallidoluysian atrophy
• Dentinogenesis imperfecta
• dento-osseous dysplasia see Cleidocranial dysplasia
• dentoleukoencephalopathy see Pol III-related leukodystrophy
• Dents disease see Dent disease
• Denys-Drash syndrome
• Deoxyguanosine kinase deficiency
• Depression
• depression in a seasonal pattern see Seasonal affective disorder
• depression, bipolar see Bipolar disorder
• depression; seasonal see Seasonal affective disorder
• depressive disorder see Depression
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• Dercum disease see Adiposis dolorosa
• Dercum's disease see Adiposis dolorosa
• Dercum-Vitaut syndrome see Adiposis dolorosa
• dermal eccrine cylindroma see Familial cylindromatosis
• dermatofibrosarcoma see Dermatofibrosarcoma protuberans
• Dermatofibrosarcoma protuberans
• dermatofibrosis disseminata lenticularis see Buschke-Ollendorff syndrome
• dermatofibrosis lenticularis disseminata see Buschke-Ollendorff syndrome
• dermatofibrosis lenticularis disseminata with osteopoikilosis see Buschke-Ollendorff syndrome
• dermatofibrosis, disseminated, with osteopoikilosis see Buschke-Ollendorff syndrome
• dermatolysis see Cutis laxa
• dermatomegaly see Cutis laxa
• dermatoosteopoikilosis see Buschke-Ollendorff syndrome
• dermodistortive urticaria see Vibratory urticaria
• DES-VLDLR see VLDLR-associated cerebellar hypoplasia
• DeSanctis-Cacchione syndrome see Xeroderma pigmentosum
• desmoid fibromatosis see Desmoid tumor
• Desmoid tumor
• Desmosterolosis
• developmental delay-facial dysmorphism syndrome due to MED13L deficiency see MED13L syndrome
• Devic disease see Neuromyelitis optica
• Devic neuromyelitis optica see Neuromyelitis optica
• Devic syndrome see Neuromyelitis optica
• Devic's disease see Neuromyelitis optica
• DFNMYP see Deafness and myopia syndrome
• DFSP see Dermatofibrosarcoma protuberans
• DGI see Dentinogenesis imperfecta
• DGSX see Simpson-Golabi-Behmel syndrome
• DGUOK-related mitochondrial DNA depletion syndrome see Deoxyguanosine kinase deficiency
• DHA crystalline nephropathy see Adenine phosphoribosyltransferase deficiency
• DHMN-V see Distal hereditary motor neuropathy, type V
• DHMN6 see Spinal muscular atrophy with respiratory distress type 1
• DHTR deficiency see Androgen insensitivity syndrome
• diabetes insipidus and mellitus with optic atrophy and deafness see Wolfram syndrome
• diabetes insipidus renalis see Nephrogenic diabetes insipidus
• diabetes insipidus secondary to vasopressin deficiency see Neurohypophyseal diabetes insipidus
• diabetes insipidus, central see Neurohypophyseal diabetes insipidus
• diabetes insipidus, diabetes mellitus, optic atrophy, and deafness see Wolfram syndrome
• diabetes insipidus, nephrogenic see Nephrogenic diabetes insipidus
• diabetes insipidus, neurogenic see Neurohypophyseal diabetes insipidus
• diabetes insipidus, neurohypophyseal see Neurohypophyseal diabetes insipidus
• diabetes insipidus, pituitary see Neurohypophyseal diabetes insipidus
• diabetes mellitus arising in pregnancy see Gestational diabetes
• diabetes mellitus type 1 see Type 1 diabetes
• diabetes mellitus, adult-onset see Type 2 diabetes
• diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• diabetes mellitus, gestational see Gestational diabetes
• diabetes mellitus, insulin-dependent see Type 1 diabetes
• diabetes mellitus, insulin-resistant, with acanthosis nigricans see Type A insulin resistance syndrome
• diabetes mellitus, non-insulin-dependent see Type 2 diabetes
• diabetes mellitus, pregnancy related see Gestational diabetes
• diabetes mellitus, type 1 see Type 1 diabetes
• diabetes mellitus, type 2 see Type 2 diabetes
• diabetes mellitus, type II see Type 2 diabetes
• diabetes mellitus, type II, with deafness see Maternally inherited diabetes and deafness
• diabetes, pregnancy-induced see Gestational diabetes
• diabetes-hypogonadism-deafness-intellectual disability syndrome see Woodhouse-Sakati syndrome
• Diamond-Blackfan anemia
• diaphorase deficiency see Autosomal recessive congenital methemoglobinemia
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
• diaphragmatic spinal muscular atrophy see Spinal muscular atrophy with respiratory distress type 1
• diaphyseal aclasis see Hereditary multiple osteochondromas
• diaphyseal dysplasia see Camurati-Engelmann disease
• diaphyseal dysplasia associated with anemia see Ghosal hematodiaphyseal dysplasia
• diaphyseal hyperostosis see Camurati-Engelmann disease
• diaphyseal osteosclerosis see Camurati-Engelmann disease
• diarrhea, fatal infantile, with trichorrhexis nodosa see Trichohepatoenteric syndrome
• diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• diarrhea, syndromic see Trichohepatoenteric syndrome
• Diastrophic dwarfism see Diastrophic dysplasia
• Diastrophic dysplasia
• DICER1 syndrome
• DICER1-related pleuropulmonary blastoma cancer predisposition syndrome see DICER1 syndrome
• DIDMOAD see Wolfram syndrome
• DIDMOAD syndrome see Wolfram syndrome
• DIDMOADUD see Wolfram syndrome
• diffuse arterial calcifying elastopathy of infancy see Generalized arterial calcification of infancy
• diffuse cerebral sclerosis of Schilder see Alpers-Huttenlocher syndrome
• diffuse globoid body sclerosis see Krabbe disease
• diffuse lentiginosis see Noonan syndrome with multiple lentigines
• diffuse Lewy body disease see Dementia with Lewy bodies
• diffuse myofascial pain syndrome see Fibromyalgia
• DiGeorge syndrome see 22q11.2 deletion syndrome
• digitorenocerebral syndrome see DOORS syndrome
• Dihydrolipoamide dehydrogenase deficiency
• dihydrolipoyl dehydrogenase deficiency see Dihydrolipoamide dehydrogenase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency
• dihydropyrimidinuria see Dihydropyrimidine dehydrogenase deficiency
• dihydropyrimidinuria see Dihydropyrimidinase deficiency
• dihydrotestosterone receptor deficiency see Androgen insensitivity syndrome
• dihydrouracil amidohydrolase deficiency see Dihydropyrimidinase deficiency
• dilated cardiomyopathy 3B see X-linked dilated cardiomyopathy
• Dilated cardiomyopathy with ataxia syndrome
• Dionisi Vici Sabetta Gambarara syndrome see Vici syndrome
• Dionisi-Vici-Sabetta-Gambarara syndrome see Vici syndrome
• DIS see Sensorineural deafness and male infertility
• disaccharide intolerance I see Congenital sucrase-isomaltase deficiency
• discogenic disease see Intervertebral disc disease
• discogenic disorder see Intervertebral disc disease
• disinhibition-dementia-parkinsonism-amytrophy complex see Frontotemporal dementia with parkinsonism-17
• disorder of asparagine metabolism see Asparagine synthetase deficiency
• disorder of intervertebral disc see Intervertebral disc disease
• disorder, migraine see Migraine
• disseminated lupus erythematosus see Systemic lupus erythematosus
• disseminated sclerosis see Multiple sclerosis
• Distal 18q deletion syndrome
• Distal arthrogryposis type 1
• distal arthrogryposis type 2B see Sheldon-Hall syndrome
• distal arthrogryposis, type 2A see Freeman-Sheldon syndrome
• distal arthrogyropsis type 9 see Congenital contractural arachnodactyly
• distal hereditary motor neuronopathy type 5 see Distal hereditary motor neuropathy, type V
• distal hereditary motor neuronopathy type VI see Spinal muscular atrophy with respiratory distress type 1
• distal hereditary motor neuronopathy, type II see Distal hereditary motor neuropathy, type II
• distal hereditary motor neuronopathy, type V see Distal hereditary motor neuropathy, type V
• Distal hereditary motor neuropathy, type II
• Distal hereditary motor neuropathy, type V
• distal median nerve compression see Carpal tunnel syndrome
• distal median nerve entrapment see Carpal tunnel syndrome
• distal monosomy 1p36 see 1p36 deletion syndrome
• distal muscular dystrophy, Miyoshi type see Miyoshi myopathy
• distal myopathy 1 see Laing distal myopathy
• Distal myopathy 2
• Distal myopathy with rimmed vacuoles see Inclusion body myopathy 2
• distal myopathy with vocal cord and pharyngeal signs see Distal myopathy 2
• distal myopathy with vocal cord weakness see Distal myopathy 2
• distal myopathy, Tateyama type see CAV3-related distal myopathy
• distal spinal muscular atrophy type 1 see Spinal muscular atrophy with respiratory distress type 1
• distal spinal muscular atrophy, type V see Distal hereditary motor neuropathy, type V
• distal X-linked AMC see X-linked infantile spinal muscular atrophy
• distichiasis-lymphedema syndrome see Lymphedema-distichiasis syndrome
• DITRA see Generalized pustular psoriasis
• DJS see Dubin-Johnson syndrome
• DK1 deficiency see DOLK-congenital disorder of glycosylation
• DLB see Dementia with Lewy bodies
• DLD deficiency see Dihydrolipoamide dehydrogenase deficiency
• DMD-associated dilated cardiomyopathy see X-linked dilated cardiomyopathy
• DMD-related dilated cardiomyopathy see X-linked dilated cardiomyopathy
• DMRV see Inclusion body myopathy 2
• DNAJC19 defect see Dilated cardiomyopathy with ataxia syndrome
• DNAJC19 defect see Barth syndrome
• DNMT1-complex disorder see Hereditary sensory and autonomic neuropathy type IE
• DNMT1-related dementia, deafness, and sensory neuropathy see Hereditary sensory and autonomic neuropathy type IE
• DNMT3A overgrowth syndrome
• DOA see Optic atrophy type 1
• DOCK8 deficiency see DOCK8 immunodeficiency syndrome
• DOCK8 immunodeficiency syndrome
• dolichol kinase deficiency see DOLK-congenital disorder of glycosylation
• dolichospondylic dysplasia see 3-M syndrome
• DOLK-CDG see DOLK-congenital disorder of glycosylation
• DOLK-congenital disorder of glycosylation
• dominant optic atrophy see Optic atrophy type 1
• Donnai-Barrow syndrome
• Donohue syndrome
• Donohue's syndrome see Donohue syndrome
• DOOR syndrome see DOORS syndrome
• DOORS syndrome
• dopa decarboxylase deficiency see Aromatic l-amino acid decarboxylase deficiency
• Dopa-responsive dystonia
• dopa-responsive dystonia due to sepiapterin reductase deficiency see Sepiapterin reductase deficiency
• Dopamine beta-hydroxylase deficiency
• Dopamine transporter deficiency syndrome
• dopamine β-hydroxylase see Dopamine beta-hydroxylase deficiency
• double cortex syndrome see Subcortical band heterotopia
• Dowling-Degos disease
• Dowling-Degos-Kitamura disease see Dowling-Degos disease
• Down syndrome
• Down's syndrome see Down syndrome
• DPD deficiency see Dihydropyrimidine dehydrogenase deficiency
• DPH deficiency see Dihydropyrimidinase deficiency
• DPR see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• DPYS deficiency see Dihydropyrimidinase deficiency
• Drash syndrome see Denys-Drash syndrome
• DRC syndrome see DOORS syndrome
• DRD see Dopa-responsive dystonia
• DRPLA see Dentatorubral-pallidoluysian atrophy
• DRRS see Duane-radial ray syndrome
• drug-induced Stevens Johnson syndrome see Stevens-Johnson syndrome/toxic epidermal necrolysis
• DSMA1 see Spinal muscular atrophy with respiratory distress type 1
• DSMAV see Distal hereditary motor neuropathy, type V
• DTD see Diastrophic dysplasia
• DTDS see Dopamine transporter deficiency syndrome
• DTM1 see CHMP2B-related frontotemporal dementia
• Duane anomaly, isolated see Isolated Duane retraction syndrome
• Duane retraction syndrome see Isolated Duane retraction syndrome
• Duane syndrome see Isolated Duane retraction syndrome
• Duane's syndrome see Isolated Duane retraction syndrome
• Duane-radial ray syndrome
• Dubin-Johnson syndrome
• Dubin-Sprinz syndrome see Dubin-Johnson syndrome
• Duchenne and Becker muscular dystrophy
• Duchenne/Becker muscular dystrophy see Duchenne and Becker muscular dystrophy
• Duncan disease see X-linked lymphoproliferative disease
• Dunnigan-Kobberling syndrome see Familial partial lipodystrophy
• dup(17)(p11.2p11.2) see Potocki-Lupski syndrome
• dup(7)(q11.23) see 7q11.23 duplication syndrome
• dup15q syndrome see 15q11-q13 duplication syndrome
• duplication 17p11.2 syndrome see Potocki-Lupski syndrome
• duplication/inversion 15q11 see 15q11-q13 duplication syndrome
• Dupuytren contracture
• Dupuytren disease see Dupuytren contracture
• Dupuytren's contracture see Dupuytren contracture
• dwarf, achondroplastic see Achondroplasia
• Dwarf, thanatophoric see Thanatophoric dysplasia
• dwarfism, growth hormone deficiency see Isolated growth hormone deficiency
• dwarfism, pituitary see Isolated growth hormone deficiency
• dwarfism-onychodysplasia see Coffin-Siris syndrome
• dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
• DWM see Dandy-Walker malformation
• DWS see Dandy-Walker malformation
• dyschondroplasia see Ollier disease
• dyschondroplasia and cavernous hemangioma see Maffucci syndrome
• dyschondrosteosis see Léri-Weill dyschondrosteosis
• dyschondrosteosis homozygous see Langer mesomelic dysplasia
• dysencephalia splanchnocystica see Meckel syndrome
• dysequilibrium syndrome-VLDLR see VLDLR-associated cerebellar hypoplasia
• Dyserythropoietic anemia and thrombocytopenia
• dyserythropoietic anemia with thrombocytopenia see Dyserythropoietic anemia and thrombocytopenia
• dysgenesis neuroepithelialis retinae see Leber congenital amaurosis
• dysgnathia complex see Auriculo-condylar syndrome
• Dyskeratosis congenita
• dyslipoproteinemic corneal dystrophy see Fish-eye disease
• dysmyelinating leukodystrophy and spastic paraparesis see Fatty acid hydroxylase-associated neurodegeneration
• dysmyelinogenic leukodystrophy see Alexander disease
• dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
• dysplasia linguofacialis see Oral-facial-digital syndrome
• dysprothrombinemia see Prothrombin deficiency
• dystonia 10 see Familial paroxysmal kinesigenic dyskinesia
• dystonia 11 see Myoclonus-dystonia
• Dystonia 16
• Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
• dystonia 5, dopa-responsive type see Dopa-responsive dystonia
• Dystonia 6
• dystonia musculorum deformans see X-linked dystonia-parkinsonism
• Dystonia musculorum deformans 1 see Early-onset primary dystonia
• Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism
• dystrophia brevicollis congenita see Klippel-Feil syndrome
• dystrophia corneae parenchymatosa congenita see Congenital stromal corneal dystrophy
• dystrophia myotonica see Myotonic dystrophy
• Dystrophic epidermolysis bullosa
• dystrophy, oculopharyngeal muscular see Oculopharyngeal muscular dystrophy
• DYT-PRKRA see Dystonia 16
• DYT1 see Early-onset primary dystonia
• DYT11 see Myoclonus-dystonia
• DYT12 see Rapid-onset dystonia parkinsonism
• DYT16 see Dystonia 16
• DYT3 see X-linked dystonia-parkinsonism
• DYT6 see Dystonia 6
• DYT6 dystonia see Dystonia 6