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D-glycerate dehydrogenase deficiency see primary hyperoxaluria
D1 Trisomy see trisomy 13
DAF syndrome see Niemann-Pick disease
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Darier disease
DAT see Alzheimer disease
DBMD see Duchenne and Becker muscular dystrophy
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-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Deafness with goiter see Pendred syndrome
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
Deficiency of alkaline phosphatase see hypophosphatasia
Deficiency of alpha-glucosidase see Pompe disease
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
5p Deletion Syndrome see cri-du-chat syndrome
deletion 17p syndrome see Smith-Magenis syndrome
22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
Dementia
demyelinogenic leukodystrophy see Alexander disease
dentinogenesis imperfecta
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
Diaphyseal Aclasis see hereditary multiple exostoses
Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
diaphyseal hyperostosis see Camurati-Engelmann disease
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
distal hereditary motor neuropathy, type V
dolichospondylic dysplasia see 3-M syndrome
dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
Down syndrome
DRRS see Duane-radial ray syndrome
DSMAV see distal hereditary motor neuropathy, type V
DTD see diastrophic dysplasia
Duane-radial ray syndrome
Duchenne and Becker muscular dystrophy
Dwarf, achondroplastic see achondroplasia
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
dysmyelinogenic leukodystrophy see Alexander disease
dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
Dysplasia, Spondyloepiphyseal see X-linked spondyloepiphyseal dysplasia tarda
Dystonia see early-onset primary dystonia
Dystonia musculorum deformans 1 see early-onset primary dystonia
Dystrophia myotonica see myotonic dystrophy
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
dystrophic epidermolysis bullosa
DYT1 see early-onset primary dystonia


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