About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genetic Conditions
>
Browse Conditions
1-9
|
A
|
B
|
C
|
D
|
E
|
F
|
G
|
H
|
I
|
J
|
K
|
L
|
M
|
N
|
O
|
P
|
Q-R
|
S
|
T
|
U
|
V
|
W
|
X
|
Y-Z
D-glycerate dehydrogenase deficiency
see
primary hyperoxaluria
DA1
see
distal arthrogryposis type 1
DA2A
see
Freeman-Sheldon syndrome
DACS
see
congenital stromal corneal dystrophy
DAF syndrome
see
Niemann-Pick disease
dairy product intolerance
see
lactose intolerance
Dandy-Walker syndrome
Danon disease
Dappled metaphysis syndrome
see
spondyloepimetaphyseal dysplasia, Strudwick type
Darier disease
Darier-Ferrand tumor
see
dermatofibrosarcoma protuberans
Darier-Hoffmann tumor
see
dermatofibrosarcoma protuberans
dark dot disease
see
Dowling-Degos disease
DAT
see
Alzheimer disease
DBA
see
Diamond-Blackfan anemia
DBMD
see
Duchenne and Becker muscular dystrophy
DBS
see
Donnai-Barrow syndrome
DCO
see
Léri-Weill dyschondrosteosis
DDC deficiency
see
aromatic l-amino acid decarboxylase deficiency
DDD
see
dense deposit disease
;
Dowling-Degos disease
DDPAC
see
frontotemporal dementia with parkinsonism-17
De la Chapelle dysplasia
see
atelosteogenesis type 2
De Lange Syndrome
see
Cornelia de Lange syndrome
De Morsier syndrome
see
septo-optic dysplasia
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-infertility syndrome
see
sensorineural deafness and male infertility
Deafness-retinitis pigmentosa syndrome
see
Usher syndrome
Deafness with goiter
see
Pendred syndrome
deafness with LAMM
see
congenital deafness with labyrinthine aplasia, microtia, and microdontia
debrancher deficiency
see
glycogen storage disease type III
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 mutase phosphoglycerate
see
phosphoglycerate mutase deficiency
Deficiency of alkaline phosphatase
see
hypophosphatasia
deficiency of alpha-glucosidase
see
Pompe disease
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 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-CoA lyase deficiency
deficiency of hypoxanthine phosphoribosyltransferase
see
Lesch-Nyhan syndrome
deficiency of lactate dehydrogenase
see
lactate dehydrogenase deficiency
Deficiency of methionine adenosyltransferase
see
hypermethioninemia
Deficiency of methylcrotonoyl-CoA carboxylase
see
3-methylcrotonyl-CoA carboxylase deficiency
Degenerative Nerve Diseases
7-Dehydrocholesterol reductase deficiency
see
Smith-Lemli-Opitz syndrome
del(4p) syndrome
see
Wolf-Hirschhorn syndrome
1p36 deletion syndrome
1q21.1 deletion
see
1q21.1 microdeletion
2q37 deletion syndrome
4p deletion syndrome
see
Wolf-Hirschhorn syndrome
5p deletion syndrome
see
cri-du-chat syndrome
9q22.3 deletion
see
9q22.3 microdeletion
9q22 deletion syndrome
see
9q22.3 microdeletion
9q34.3 deletion syndrome
see
Kleefstra 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
15q24 deletion
see
15q24 microdeletion
16p11.2 deletion syndrome
deletion 17p syndrome
see
Smith-Magenis syndrome
17q21.31 deletion syndrome
see
17q21.31 microdeletion 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
dementia with amyotrophic lateral sclerosis
see
amyotrophic lateral sclerosis
demyelinogenic leukodystrophy
see
Alexander disease
dense deposit disease
Dent disease
dentatorubral-pallidoluysian atrophy
dentinogenesis imperfecta
deoxyguanosine kinase deficiency
Der(22) syndrome due to 3:1 meiotic disjunction events
see
Emanuel syndrome
Dercum disease
see
adiposis dolorosa
Dercum-Vitaut syndrome
see
adiposis dolorosa
dermal eccrine cylindroma
see
familial cylindromatosis
dermatofibrosarcoma protuberans
dermatolysis
see
cutis laxa
dermatomegaly
see
cutis laxa
DES-VLDLR
see
VLDLR-associated cerebellar hypoplasia
DeSanctis-Cacchione syndrome
see
xeroderma pigmentosum
Developmental Disabilities
Devic disease
see
neuromyelitis optica
Devic neuromyelitis optica
see
neuromyelitis optica
Devic syndrome
see
neuromyelitis optica
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
Diabetes Insipidus
diabetes insipidus and mellitus with optic atrophy and deafness
see
Wolfram syndrome
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 insipidus renalis
see
nephrogenic diabetes insipidus
diabetes insipidus secondary to vasopressin deficiency
see
neurohypophyseal diabetes insipidus
diabetes mellitus, type II, with deafness
see
maternally inherited diabetes and deafness
Diamond-Blackfan anemia
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 exostoses
Diaphyseal Dysplasia, Progressive
see
Camurati-Engelmann disease
diaphyseal hyperostosis
see
Camurati-Engelmann disease
Diarrhea
see
congenital sucrase-isomaltase deficiency
diastrophic dysplasia
DIDMOAD
see
Wolfram syndrome
diffuse cerebral sclerosis of Schilder
see
Alpers-Huttenlocher syndrome
Diffuse Globoid Body Sclerosis
see
Krabbe disease
diffuse lentiginosis
see
multiple lentigines syndrome
DiGeorge Syndrome
see
22q11.2 deletion syndrome
Digestive Diseases
dihydropyrimidine dehydrogenase deficiency
dihydropyrimidinuria
see
dihydropyrimidine dehydrogenase deficiency
Dihydrotestosterone receptor deficiency
see
androgen insensitivity syndrome
2,8-dihydroxyadenine urolithiasis
see
adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadeninuria
see
adenine phosphoribosyltransferase deficiency
dilated cardiomyopathy 3B
see
DMD-associated dilated cardiomyopathy
DIS
see
sensorineural deafness and male infertility
disaccharide intolerance I
see
congenital sucrase-isomaltase deficiency
disinhibition-dementia-parkinsonism-amytrophy complex
see
frontotemporal dementia with parkinsonism-17
Disorders of Sex Development
distal arthrogryposis type 1
distal arthrogryposis, type 2A
see
Freeman-Sheldon syndrome
distal hereditary motor neuronopathy type VI
see
spinal muscular atrophy with respiratory distress type 1
distal hereditary motor neuropathy, type II
distal hereditary motor neuropathy, type V
distal monosomy 1p36
see
1p36 deletion syndrome
Distal Myopathies
Distal myopathy 1
see
Laing distal myopathy
distal myopathy 2
Distal myopathy with rimmed vacuoles
see
inclusion body myopathy 2
distal spinal muscular atrophy type 1
see
spinal muscular atrophy with respiratory distress type 1
DJS
see
Dubin-Johnson syndrome
DMD-associated dilated cardiomyopathy
DMD-related dilated cardiomyopathy
see
DMD-associated dilated cardiomyopathy
DMRV
see
inclusion body myopathy 2
DNMT1-related dementia, deafness, and sensory neuropathy
see
hereditary sensory and autonomic neuropathy type IE
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
dopa-responsive dystonia
dopa-responsive dystonia due to sepiapterin reductase deficiency
see
sepiapterin reductase deficiency
dopamine beta-hydroxylase deficiency
Dowling-Degos disease
Down syndrome
DPD deficiency
see
dihydropyrimidine dehydrogenase deficiency
DRD
see
dopa-responsive dystonia
DRPLA
see
dentatorubral-pallidoluysian atrophy
DRRS
see
Duane-radial ray syndrome
DSMA1
see
spinal muscular atrophy with respiratory distress type 1
DSMAV
see
distal hereditary motor neuropathy, type V
DTD
see
diastrophic dysplasia
DTM1
see
CHMP2B-related frontotemporal dementia
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
Duncan disease
see
X-linked lymphoproliferative disease
22q11.2 duplication
duplication/inversion 15q11
see
isodicentric chromosome 15 syndrome
dwarf, achondroplastic
see
achondroplasia
Dwarf, thanatophoric
see
thanatophoric dysplasia
Dwarfism
dwarfism, growth hormone deficiency
see
isolated growth hormone deficiency
dwarfism, pituitary
see
isolated growth hormone deficiency
dwarfism-retinal atrophy-deafness syndrome
see
Cockayne syndrome
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
dyserthropoietic anemia with thrombocytopenia
see
dyserythropoietic anemia and thrombocytopenia
dyserythropoietic anemia and thrombocytopenia
Dysgammaglobulinemia
see
X-linked hyper IgM syndrome
dysgenesis neuroepithelialis retinae
see
Leber congenital amaurosis
dysgnathia complex
see
auriculo-condylar syndrome
dyskeratosis congenita
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
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, hypermanganesemia, polycythemia, and chronic liver disease
see
hypermanganesemia with dystonia, polycythemia, and cirrhosis
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
Published: February 11, 2013