Genetic Conditions: D

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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
• 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's disease
• Davidson disease, see Microvillus inclusion disease
• DBA, see Diamond-Blackfan anemia
• DBH deficiency, see Dopamine beta-hydroxylase deficiency
• 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
• DCD, see Terminal osseous dysplasia
• DCMA, see Dilated cardiomyopathy with ataxia syndrome
• DCMA syndrome, see Dilated cardiomyopathy with ataxia syndrome
• DCO, see Léri-Weill dyschondrosteosis
• DCS, see Chanarin-Dorfman syndrome
• 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 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
• Deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome, see DOORS syndrome
• Deafness-onychoosteodystrophy-intellectual disability syndrome, see DOORS syndrome
• Deafness-retinitis pigmentosa syndrome, see Usher syndrome
• DEB, see Dystrophic epidermolysis bullosa
• Debrancher deficiency, see Glycogen storage disease type III
• Decorin-associated congenital stromal corneal dystrophy, see Congenital stromal corneal dystrophy
• DEE/EE-SWAS, see Epilepsy-aphasia spectrum
• DEE4, see STXBP1 encephalopathy
• Deep fibromatosis, see Desmoid tumor
• Defect of enterocyte intrinsic factor receptor, see Imerslund-Gräsbeck syndrome
• Defective color vision, see Color vision deficiency
• 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 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 Proximal 18q deletion syndrome
• Del(18q) syndrome, see Distal 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
• 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 and epileptic encephalopathy 1
• Developmental and epileptic encephalopathy 4, see STXBP1 encephalopathy
• Developmental and epileptic encephalopathy, type 4, see STXBP1 encephalopathy
• Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep, see Epilepsy-aphasia spectrum
• 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 deficiency , see Deoxyguanosine kinase deficiency
• DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form, 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 Arginine vasopressin resistance
• Diabetes insipidus secondary to vasopressin deficiency, see Arginine vasopressin deficiency
• Diabetes insipidus, central, see Arginine vasopressin deficiency
• Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, see Wolfram syndrome
• Diabetes insipidus, nephrogenic, see Arginine vasopressin resistance
• Diabetes insipidus, neurogenic, see Arginine vasopressin deficiency
• Diabetes insipidus, neurohypophyseal, see Arginine vasopressin deficiency
• Diabetes insipidus, pituitary, see Arginine vasopressin deficiency
• 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
• Digitocutaneous dysplasia, see Terminal osseous dysplasia
• Digitorenocerebral syndrome, see DOORS syndrome
• Dihydrolipoamide dehydrogenase deficiency
• Dihydrolipoyl dehydrogenase deficiency, see Dihydrolipoamide dehydrogenase deficiency
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency
• Dihydropyrimidinuria, see Dihydropyrimidinase deficiency
• Dihydropyrimidinuria, see Dihydropyrimidine dehydrogenase 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 Deafness-infertility syndrome
• 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 10q deletion syndrome, see 10q26 deletion syndrome
• 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 cholangiocarcinoma, see Cholangiocarcinoma
• Distal deletion 10q, see 10q26 deletion syndrome
• 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 10q, see 10q26 deletion 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 or without rimmed vacuoles, see GNE myopathy
• Distal myopathy with rimmed vacuoles, see GNE myopathy
• Distal myopathy with vocal cord and pharyngeal signs, see Distal myopathy 2
• Distal myopathy with vocal cord weakness, see Distal myopathy 2
• Distal myopathy, Nonaka type, see GNE myopathy
• 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
• DLG4-related synaptopathy
• DMD-associated dilated cardiomyopathy, see X-linked dilated cardiomyopathy
• DMD-related dilated cardiomyopathy, see X-linked dilated cardiomyopathy
• DMRV, see GNE myopathy
• DNAJC19 defect, see Barth syndrome
• DNAJC19 defect, see Dilated cardiomyopathy with ataxia 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 deficiency, see Dopamine beta-hydroxylase deficiency
• Dorfman-Chanarin disease, see Chanarin-Dorfman syndrome
• Dorfman-Chanarin syndrome, see Chanarin-Dorfman syndrome
• 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 12, see Rapid-onset dystonia parkinsonism
• 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 isolated 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 isolated dystonia
• DYT11, see Myoclonus-dystonia
• DYT12, see Rapid-onset dystonia parkinsonism
• DYT16, see Dystonia 16
• DYT3, see X-linked dystonia-parkinsonism
• DYT5b, see Tyrosine hydroxylase deficiency
• DYT6, see Dystonia 6
• DYT6 dystonia, see Dystonia 6