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| Term | chromosome 1p36 deletion syndrome | ID (Ontology) | DOID:0060410 (Human Disease) |
| Definition | A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. | ||
| Also Known As | "1p36 deletion syndrome" ; "deletion 1p36" ; "monosomy 1p36" | ||
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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 1p36 deletion syndrome |
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| Is a | chromosomal deletion syndrome | ||
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GARD:6082 MESH:C535362 MIM:607872 NCI:C74983 ORDO:1606 SNOMEDCT_US_2023_03_01:699306003 UMLS_CUI:C1842870 |
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