Health Conditions - Genetics Home Reference: D-4 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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
• 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 C3 glomerulopathy
• DDD, see Dowling-Degos disease
• 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 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 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, onychodystrophy, osteodystrophy, and mental retardation syndrome, see DOORS syndrome
• Deafness-dystonia 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 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 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 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, Laki-Lorand factor, see factor XIII deficiency
• deficient alpha granule syndrome, see gray platelet syndrome
• degenerative retinoschisis, see X-linked juvenile retinoschisis
• del(18q) syndrome, see 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 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 3p, see 3p deletion syndrome
• dementia praecox, see schizophrenia
• dementia with amyotrophic lateral sclerosis, see amyotrophic lateral sclerosis
• demyelinogenic leukodystrophy, see Alexander disease
• dense deposit disease, see C3 glomerulopathy
• Dent disease
• Dent's disease, see Dent disease
• dentatorubral-pallidoluysian atrophy
• dentinogenesis imperfecta
• dentoleukoencephalopathy, see Pol III-related leukodystrophy
• Dents disease, see Dent disease
• Denys-Drash syndrome
• deoxyguanosine kinase deficiency
• depression, bipolar, see bipolar disorder
• 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 verbal dyspraxia, see FOXP2-related speech and language disorder
• 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 type 1, see type 1 diabetes
• diabetes mellitus, insulin-dependent, see type 1 diabetes
• diabetes mellitus, insulin-resistant, with acanthosis nigricans, see type A insulin resistance syndrome
• diabetes mellitus, type 1, see type 1 diabetes
• diabetes mellitus, type II, with deafness, see maternally inherited diabetes and deafness
• 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
• diarrhea, fatal infantile, with trichorrhexis nodosa, see trichohepatoenteric 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
• 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 dihydropyrimidinase deficiency
• dihydropyrimidinuria, see dihydropyrimidine dehydrogenase deficiency
• dihydrotestosterone receptor deficiency, see androgen insensitivity syndrome
• dihydrouracil amidohydrolase deficiency, see dihydropyrimidinase deficiency
• dilated cardiomyopathy 3B, see DMD-associated dilated cardiomyopathy
• dilated cardiomyopathy with ataxia 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 intervertebral disc, see intervertebral disc disease
• disseminated lupus erythematosus, see systemic lupus erythematosus
• disseminated sclerosis, see multiple sclerosis
• 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 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
• distichiasis-lymphedema syndrome, see lymphedema-distichiasis syndrome
• DJS, see Dubin-Johnson syndrome
• DK1 deficiency, see DOLK-congenital disorder of glycosylation
• DLD deficiency, see dihydrolipoamide dehydrogenase deficiency
• DMD-associated dilated cardiomyopathy
• DMD-related dilated cardiomyopathy, see DMD-associated dilated cardiomyopathy
• DMRV, see inclusion body myopathy 2
• DNAJC19 defect, see dilated cardiomyopathy with ataxia syndrome
• DNAJC19 defect, see Barth syndrome
• DNMT1-related dementia, deafness, and sensory neuropathy, see hereditary sensory and autonomic neuropathy type IE
• DOA, see optic atrophy type 1
• DOCK8 deficiency, see autosomal recessive hyper-IgE syndrome
• DOCK8 immunodeficiency syndrome, see autosomal recessive hyper-IgE 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
• 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
• 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(7)(q11.23), see 7q11.23 duplication syndrome
• duplication/inversion 15q11, see isodicentric chromosome 15 syndrome
• Dupuytren contracture
• Dupuytren's contracture, see Dupuytren contracture
• Dupuytren's disease, 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
• Dysplasia, Spondyloepiphyseal, see X-linked spondyloepiphyseal dysplasia tarda
• dysprothrombinemia, see prothrombin deficiency
• dystonia 10, see familial paroxysmal kinesigenic dyskinesia
• 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
• dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease, see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• dystrophia brevicollis congenita, see Klippel-Feil syndrome
• dystrophia corneae parenchymatosa congenita, see congenital stromal corneal dystrophy
• dystrophia myotonica, see myotonic dystrophy
• dystrophic epidermolysis bullosa
• DYT1, see early-onset primary dystonia
• DYT11, see myoclonus-dystonia
• DYT12, see rapid-onset dystonia parkinsonism
• DYT3, see X-linked dystonia-parkinsonism
• DYT6, see dystonia 6
• DYT6 dystonia, see dystonia 6