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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Schinzel-Giedion midface retraction syndrome #1275

Closed sbello closed 6 months ago

sbello commented 7 months ago

Schinzel Giedion syndrome (Orphanet, GARD, and MedLine use this label so I went with this as the primary and the OMIM name as a synonym) Synonym - Schinzel-Giedion midface retraction syndrome, SGS XREFs: OMIM:269150 ORDO:798 GARD https://rarediseases.info.nih.gov/diseases/117/disease MedLine https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/

Mouse model in PMID:37872881

Def: An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12. ref: ORDO:798, PMID:20436468(https://pubmed.ncbi.nlm.nih.gov/20436468/)

allenbaron commented 6 months ago

Thanks Sue! This will be in the December release.