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Browse result for Osteootohepatoenteric syndrome
※ introduction Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).
Reference
OMIM: Osteootohepatoenteric syndrome
Reference
OMIM: Osteootohepatoenteric syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12754 | Q9H3U1 | 55898 | UNC45A | Protein unc-45 homolog A | Homo sapiens |
