MCID: GRW022
MIFTS: 4

Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

MalaCards integrated aliases for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome:

Name: Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
growth retardation-mild developmental delay-chronic hepatitis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare hepatic diseases


External Ids:

Orphanet 55 ORPHA391366

Summaries for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

MalaCards based summary : Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome An important gene associated with Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome is SH2B3 (SH2B Adaptor Protein 3). Affiliated tissues include liver.

Related Diseases for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Symptoms & Phenotypes for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Drugs & Therapeutics for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Search Clinical Trials , NIH Clinical Center for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome

Genetic Tests for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Anatomical Context for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

MalaCards organs/tissues related to Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome:

38
Liver

Publications for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Variations for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Expression for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Search GEO for disease gene expression data for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome.

Pathways for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

GO Terms for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

Sources for Growth Retardation-Mild Developmental Delay-Chronic Hepatitis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....