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growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
Uniprot Description An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction.
Mondo Term and Equivalent IDs
MONDO:0014911: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Download Data for growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
EFO:0009155
OMIM:617093
Orphanet:541423
UMLS:C4310720
MONDO:0014911
High level summary of knowledge for a disease, including descriptions and datasource references.
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Opens the Target List with this set of targets
Download Data for Recurrent%20staphylococcal%20infections