MCID: CNG533
MIFTS: 5

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 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare hepatic diseases


External Ids:

Orphanet 58 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 eye and liver.

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:

40
Eye, Liver

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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