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| Term | 3p deletion syndrome | ID (Ontology) | DOID:0060417 (Human Disease) |
| Definition | A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. | ||
| Also Known As | "chromosome 3pter-P25 deletion syndrome" ; "distal monosomy 3p" | ||
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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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autosomal genetic disease |__autosomal dominant disease_____ chromosomal disease | |__chromosomal deletion syndrome__| 3p deletion syndrome |
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| Is a |
autosomal dominant disease chromosomal deletion syndrome |
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External Crossreferences & Linkouts
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ICD10CM:Q93.5 MIM:613792 ORDO:1620 |
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