Osteootohepatoenteric Syndrome

Preferred Label : Osteootohepatoenteric Syndrome;

NCIt synonyms : OOHE; O2HE;

NCIt definition : An exceedingly rare autosomal recessive condition caused by mutation (s) in the UNC45A gene, encoding protein unc-45 homolog A. It is characterized neonatal cholestasis, deafness, and bone fragility.;

NCI Metathesaurus CUI : CL1767541;

Details

Origin ID

C201597;

UMLS CUI

C5543557;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteootohepatoenteric syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- UNC45A Gene [NCIt concept]

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