Preferred Name |
Complete_Trisomy_21_Syndrome |
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Synonyms |
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ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Complete_Trisomy_21_Syndrome |
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ID |
C101222 |
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NCI_Definition |
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. |
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NCI_PT |
Complete Trisomy 21 Syndrome |
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NICHD_Definition |
_ |
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prefixIRI |
Complete_Trisomy_21_Syndrome |
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prefLabel |
Complete_Trisomy_21_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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