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D-glycerate dehydrogenase deficiency see primary hyperoxaluria
DACS see congenital stromal corneal dystrophy
DAF syndrome see Niemann-Pick disease
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Darier disease
DAT see Alzheimer disease
DBA see Diamond-Blackfan anemia
DBMD see Duchenne and Becker muscular dystrophy
DBS see Donnai-Barrow syndrome
DDC deficiency see aromatic l-amino acid decarboxylase deficiency
De la Chapelle dysplasia see atelosteogenesis type 2
De Lange Syndrome see Cornelia de Lange syndrome
De Vivo disease see GLUT1 deficiency syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Deafness with goiter see Pendred syndrome
decorin-associated congenital stromal corneal dystrophy see congenital stromal corneal dystrophy
Deep Vein Thrombosis
3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
Deficiency of alkaline phosphatase see hypophosphatasia
Deficiency of alpha-glucosidase see Pompe disease
deficiency of cathepsin A see galactosialidosis
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 guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
Deficiency of lysosomal alpha-glucosidase see Pompe disease
Deficiency of methionine adenosyltransferase see hypermethioninemia
Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-coenzyme A carboxylase deficiency
Degenerative Nerve Diseases
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
del(4p) syndrome see Wolf-Hirschhorn syndrome
1p36 deletion syndrome
2q37 deletion syndrome
4p Deletion Syndrome see Wolf-Hirschhorn syndrome
5p Deletion Syndrome see cri-du-chat syndrome
11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11q deletion disorder see Jacobsen syndrome
11q deletion syndrome see Jacobsen syndrome
11q23 deletion disorder see Jacobsen syndrome
deletion 17p syndrome see Smith-Magenis syndrome
22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
22q13.3 deletion syndrome
22q13 deletion syndrome see 22q13.3 deletion syndrome
Dementia
demyelinogenic leukodystrophy see Alexander disease
dentatorubral-pallidoluysian atrophy
dentinogenesis imperfecta
Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
dermatolysis see cutis laxa
dermatomegaly see cutis laxa
DES-VLDLR see VLDLR-associated cerebellar hypoplasia
Developmental Disabilities
DGI see dentinogenesis imperfecta
DGSX see Simpson-Golabi-Behmel syndrome
DHMN-V see distal hereditary motor neuropathy, type V
DHTR deficiency see androgen insensitivity syndrome
Diabetes
Diamond-Blackfan anemia
diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
Diaphyseal Aclasis see hereditary multiple exostoses
Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
diaphyseal hyperostosis see Camurati-Engelmann disease
Diarrhea see congenital sucrase-isomaltase deficiency
diastrophic dysplasia
Diffuse Globoid Body Sclerosis see Krabbe disease
DiGeorge Syndrome see 22q11.2 deletion syndrome
Digestive Diseases
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
disaccharide intolerance I see congenital sucrase-isomaltase deficiency
distal hereditary motor neuropathy, type V
distal monosomy 1p36 see 1p36 deletion syndrome
Distal Myopathies
Distal myopathy 1 see Laing distal myopathy
Distal myopathy with rimmed vacuoles see inclusion body myopathy 2
DJS see Dubin-Johnson syndrome
DMRV see inclusion body myopathy 2
DOA see optic atrophy type 1
dolichospondylic dysplasia see 3-M syndrome
dominant optic atrophy see optic atrophy type 1
Donnai-Barrow syndrome
dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
dopamine beta-hydroxylase deficiency
Down syndrome
DRPLA see dentatorubral-pallidoluysian atrophy
DRRS see Duane-radial ray syndrome
DSMAV see distal hereditary motor neuropathy, type V
DTD see diastrophic dysplasia
Duane anomaly, isolated see isolated Duane retraction syndrome
Duane-radial ray syndrome
Duane retraction syndrome see isolated Duane retraction syndrome
Duane syndrome see isolated Duane retraction syndrome
Dubin-Johnson syndrome
Duchenne and Becker muscular dystrophy
Dwarf, achondroplastic see achondroplasia
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
dysequilibrium syndrome-VLDLR see VLDLR-associated cerebellar hypoplasia
Dysgammaglobulinemia see X-linked hyper IgM syndrome
dysmyelinogenic leukodystrophy see Alexander disease
dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
Dysplasia, Spondyloepiphyseal see X-linked spondyloepiphyseal dysplasia tarda
dysprothrombinemia see prothrombin deficiency
Dystonia
Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
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 corneae parenchymatosa congenita see congenital stromal corneal dystrophy
dystrophia myotonica see myotonic dystrophy
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
dystrophic epidermolysis bullosa
DYT1 see early-onset primary dystonia
DYT3 see X-linked dystonia-parkinsonism
DYT11 see myoclonus-dystonia
DYT12 see rapid-onset dystonia parkinsonism


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