Search Ontology:
Human Disease

joint laxity, short stature, and myopia

Term ID
DOID:0070748
Synonyms
  • JLSM
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. https://pubmed.ncbi.nlm.nih.gov/28475863/
References
  • GARD:0017963
  • ICD10CM:Q87.5
  • MIM:617662
  • ORDO:527450
  • SNOMEDCT_US_2026_03_01:1217372003
  • UMLS_CUI:C4540020
Ontology
Human Disease   ( DOID:0070748 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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