OBO ID: DOID:0111454 |
Term Name: | SHORT syndrome | Search Ontology: | |
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Definition: | A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (2) | ||
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Ontology: | Human Disease ( DOID:0111454 ) |
OTHER SHORT syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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