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loading...| Preferred Name |
Wolf-Hirschhorn Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35528 |
| code |
C35528 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| 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. |
| FULL_SYN |
4p Deletion Syndrome Wolf-Hirschhorn Syndrome |
| label |
Wolf-Hirschhorn Syndrome |
| Legacy Concept Name |
Wolf-Hirschhorn_Syndrome |
| Preferred_Name |
Wolf-Hirschhorn Syndrome |
| prefixIRI |
Thesaurus:C35528 |
| prefLabel |
Wolf-Hirschhorn Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1956097 |
| subClassOf |
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