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| Term | chromosome 2q37 deletion syndrome | ID (Ontology) | DOID:0111704 (Human Disease) |
| Definition | A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. | ||
| Also Known As | "2q37 microdeletion syndrome" ; "Albright hereditary osteodystrophy type 3" ; "Albright hereditary osteodystrophy-like syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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chromosomal disease |__chromosomal deletion syndrome |__chromosome 2q37 deletion syndrome |
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| Is a | chromosomal deletion syndrome | ||
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MESH:C538317 MIM:600430 NCI:C129021 ORDO:1001 SNOMEDCT_US_2023_03_01:702357000 UMLS_CUI:C2931817 |
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