Genetic diseases-D
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- 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
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