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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Ullrich congenital muscular dystrophy subtypes #1313

Closed csbjohnson closed 2 months ago

csbjohnson commented 2 months ago

Add subtypes from OMIM PS: https://www.omim.org/phenotypicSeries/PS254090,PS253600

csbjohnson commented 2 months ago

Subtypes have been added. Next: Parent term (DOID:0050558) to be reviewed.

csbjohnson commented 2 months ago

Noticed that subtypes 1B and 1C lack an established inheritance in OMIM. In the inheritance sections however it's mentioned that based on specific families subtype 1B is consistent with autosomal recessive inheritance and subtype 1C autosomal recessive and dominant inheritances.

Determine if it's considered representative enough to state the inheritance of the entire disease.

csbjohnson commented 2 months ago

OMIM xref of the parent term for the subtypes “Ullrich congenital muscular dystrophy”/DOID:005055 shows a different nomenclature showing as “Ullrich congenital muscular dystrophy 1A” (https://www.omim.org/entry/254090) instead of the current nomenclature of the DO as "Ullrich congenital muscular dystrophy" (which is listed as an "alternate name" in the OMIM record.)

Determine if nomenclature update is applicable.