Preferred Name |
Wolf-Hirschhorn Syndrome |
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Synonyms |
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Definitions |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C35528 |
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code |
C35528 |
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Contributing_Source |
Cellosaurus |
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definition |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations. |
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in_subset | ||
label |
Wolf-Hirschhorn Syndrome |
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Legacy Concept Name |
Wolf-Hirschhorn_Syndrome |
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Preferred_Name |
Wolf-Hirschhorn Syndrome |
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prefixIRI |
NCIT:C35528 |
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prefLabel |
Wolf-Hirschhorn Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C1956097 |
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subClassOf |