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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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OMIM:619719 #1385

Closed sbello closed 2 weeks ago

sbello commented 2 weeks ago

Please add an entry for OMIM:619719 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS

Mouse model in PMID:37154692

label: intellectual disability and myopathy syndrome Synonym: IDMYS (acronym from OMIM) Synonym: ABCC9-related intellectual disability and myopathy syndrome (PMID:37154692) Synonym: AIMS (acronym from PMID:37154692)

Definition: A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12.

allenbaron commented 2 weeks ago

Thanks for bringing this to our attention and making it a quick one. I wish there was less of a trend toward genes in disease names but I've added AIMS and it's related name because they are commonly used.

It will be in this month's release as DOID:0070600.

sbello commented 2 weeks ago

I think the gene - disease names are somewhat inevitable as we get more and more subtypes where the only/primary distinguishing factor is the gene. At least in this case it is only a synonym.

allenbaron commented 2 weeks ago

True. It's a bit annoying here because it looks like they tacked the gene name onto a brand new disease, not a subtype. There are no other matches in EuropePMC for "intellectual disability and myopathy syndrome" other than this one (PubMed isn't reliable for full phrase searches, so I can't say for sure there).