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 58

Characteristics:

Orphanet epidemiological data:

58
growth retardation-mild developmental delay-chronic hepatitis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Orphanet 58 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:

40
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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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