joint laxity, short stature, and myopia Disease Ontology Browser

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Disease Ontology Browser

joint laxity, short stature, and myopia (DOID:0070748)
Alliance: disease page
Synonyms: JLSM
Alt IDs: OMIM:617662, ICD10CM:Q87.5, ORDO:527450, UMLS_CUI:C4540020
Definition: A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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