| Metadata | |
|---|---|
| ID | DOID:0070748 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070748 Copy |
| Name | joint laxity, short stature, and myopia |
| 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/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1217372003 |
| SKOS |
exactMatch ORDO:527450 exactMatch GARD:0017963 exactMatch MIM:617662 exactMatch UMLS_CUI:C4540020 broadMatch ICD10CM:Q87.5 |
| Subsets |
DO_rare_slim |
| Synonyms |
JLSM [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |