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Pediatric Terminology
Last uploaded:
January 25, 2013
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Preferred Name | 5p_Partial_Monosomy_Syndrome | |
Synonyms |
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ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#5p_Partial_Monosomy_Syndrome |
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ID |
C34518
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NCI_Definition |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.
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NCI_PT |
Cri du Chat Syndrome
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NICHD_Definition |
_
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prefLabel |
5p_Partial_Monosomy_Syndrome
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Subset_Association1 |
NICHD Pediatric Terminology
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Subset_Association2 |
Neonatal Research Network Terminology
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SYN | ||
subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Chromosome_Abnormality |
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Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/SNOMEDCT/70173007 | SNOMEDCT | LOOM |
http://purl.bioontology.org/ontology/SNMI/D4-02052 | SNMI | LOOM |