MCID: CNG533
MIFTS: 6

Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome

Categories: Eye diseases, Liver diseases, Rare diseases

Aliases & Classifications for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

MalaCards integrated aliases for Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome:

Name: Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 60

Classifications:



External Ids:

Orphanet 60 ORPHA521432

Summaries for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

MalaCards based summary : Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome An important gene associated with Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome is CYP51A1 (Cytochrome P450 Family 51 Subfamily A Member 1). Affiliated tissues include liver and eye.

Related Diseases for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Symptoms & Phenotypes for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Drugs & Therapeutics for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Search Clinical Trials , NIH Clinical Center for Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome

Genetic Tests for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Anatomical Context for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

MalaCards organs/tissues related to Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome:

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Liver, Eye

Publications for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Variations for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Expression for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Search GEO for disease gene expression data for Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome.

Pathways for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

GO Terms for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

Sources for Congenital Cataract-Severe Neonatal Hepatopathy-Global...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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