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monosomy 13q34 - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:monosomy 13q34
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Accession:EFO:MONDO:0019902 term browser browse the term
Definition:Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
Synonyms:exact_synonym: Del(13)(q34);   Orphanet:96168;   distal deletion 13q34;   http://identifiers.org/medgen/1631901;   http://identifiers.org/snomedct/766716004;   http://linkedlifedata.com/resource/umls/id/C4707797;   monosomy type 13q34;   subtelomeric deletion 13q34
 alt_id: MONDO:0019902
 xref: GARD:16847;   MEDGEN:1631901;   ORDO:96168;   SCTID:766716004;   UMLS:C4707797

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  experimental factor 0
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          syndromic disease 0
            monosomy 13q34 0
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  experimental factor 0
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            syndrome caused by partial chromosomal deletion 0
              partial deletion of the long arm of chromosome 13 0
                monosomy 13q34 0
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