MCID: CTR153
MIFTS: 9

Cataract-Deafness-Hypogonadism Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cataract-Deafness-Hypogonadism Syndrome

MalaCards integrated aliases for Cataract-Deafness-Hypogonadism Syndrome:

Name: Cataract-Deafness-Hypogonadism Syndrome 59
Schaap Taylor Baraitser Syndrome 73
Schaap-Taylor-Baraitser Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cataract-deafness-hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1383
UMLS via Orphanet 74 C2931269
ICD10 via Orphanet 34 Q87.8
UMLS 73 C2931269

Summaries for Cataract-Deafness-Hypogonadism Syndrome

MalaCards based summary : Cataract-Deafness-Hypogonadism Syndrome, also known as schaap taylor baraitser syndrome, is related to schaap taylor baraitser syndrome. Affiliated tissues include eye.

Related Diseases for Cataract-Deafness-Hypogonadism Syndrome

Diseases related to Cataract-Deafness-Hypogonadism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schaap taylor baraitser syndrome 12.7

Symptoms & Phenotypes for Cataract-Deafness-Hypogonadism Syndrome

Drugs & Therapeutics for Cataract-Deafness-Hypogonadism Syndrome

Search Clinical Trials , NIH Clinical Center for Cataract-Deafness-Hypogonadism Syndrome

Genetic Tests for Cataract-Deafness-Hypogonadism Syndrome

Anatomical Context for Cataract-Deafness-Hypogonadism Syndrome

MalaCards organs/tissues related to Cataract-Deafness-Hypogonadism Syndrome:

41
Eye

Publications for Cataract-Deafness-Hypogonadism Syndrome

Variations for Cataract-Deafness-Hypogonadism Syndrome

Expression for Cataract-Deafness-Hypogonadism Syndrome

Search GEO for disease gene expression data for Cataract-Deafness-Hypogonadism Syndrome.

Pathways for Cataract-Deafness-Hypogonadism Syndrome

GO Terms for Cataract-Deafness-Hypogonadism Syndrome

Sources for Cataract-Deafness-Hypogonadism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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