Details of Disease

General Information of Disease (ID: DISB0J5I)

Disease Name Growth retardation-mild developmental delay-chronic hepatitis syndrome
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIS7JDYJ: Gastrointestinal disease
DISB0J5I: Growth retardation-mild developmental delay-chronic hepatitis syndrome
Disease Identifiers
MONDO ID
MONDO_0018317
UMLS CUI
C4751595
MedGen ID
1654119
Orphanet ID
391366
SNOMED CT ID
774204006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SH2B3 TT36N7Z Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SH2B3 OT4ALHBQ Supportive Autosomal recessive [1]
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References

1 Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood. 2013 Oct 3;122(14):2425-32. doi: 10.1182/blood-2013-05-500850. Epub 2013 Aug 1.