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Y-Z
D-glycerate dehydrogenase deficiency
see
primary hyperoxaluria
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-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
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
del(4p) syndrome
see
Wolf-Hirschhorn syndrome
4p Deletion Syndrome
see
Wolf-Hirschhorn 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
dentatorubral-pallidoluysian atrophy
dentinogenesis imperfecta
Der(22) syndrome due to 3:1 meiotic disjunction events
see
Emanuel syndrome
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
see
Berardinelli-Seip congenital lipodystrophy
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 Myopathies
Distal myopathy 1
see
Laing distal myopathy
Distal myopathy with rimmed vacuoles
see
inclusion body myopathy 2
DMRV
see
inclusion body myopathy 2
dolichospondylic dysplasia
see
3-M 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-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
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
see
early-onset primary 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 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
Published: January 23, 2009