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Repository for the Human Disease Ontology.
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Developmental dysplasia of the hip #1288

Closed sbello closed 5 months ago

sbello commented 5 months ago

In PMID:36067312 the authors report a new mouse model of developmental dysplasia of the hip that corresponds to a human variant in LRP1 associated with the disease.

The paper includes a reference to OMIM:142700 but this is now DDH1 that is associated with a locus on a different chromosome.

OMIM has a phenotypic series PS142700 with 2 entries for this disease. This appears to be a third. I'll ask OMIM to look at the paper and create a new record but in the meantime it would be helpful to have a new term for the general disease.

Term: developmental dysplasia of the hip xref: OMIM:PS142700 child of bone development disease DOID:0080006 definition: A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum PMID:11246461

This would have 2 subtypes from OMIM DDH1, 142700 - locus chromosome 13q22 DDH2, 615612 - locus chromosome 3p21

csbjohnson commented 5 months ago

Hi Sue! Thank you very much for sharing. I added developmental dysplasia of the hip to the DO. We can add the new OMIM record when available.