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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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NTR: syndromic X-linked intellectual developmental disorder brain type #1292

Closed MonikaTomczuk closed 4 months ago

MonikaTomczuk commented 5 months ago

Hi,

Requesting the following term for MGI for J:338313 (https://pubmed.ncbi.nlm.nih.gov/37463454/).

Label: syndromic X-linked intellectual developmental disorder brain type Definition: A syndromic X-linked syndromic intellectual developmental disorder characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, dysmorphic facial features, and variable features such as musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22. Definition ref: https://pubmed.ncbi.nlm.nih.gov/27545675/ Parent DO: DOID:0060309 syndromic X-linked disability Exact synonym: MRXSB ? DbXref: OMIM:300986

Thank you, Monika Tomczuk MGI curator

allenbaron commented 5 months ago

Thanks Monika. I'll work to get this out in the next release.