loading...| Preferred Name |
Prader-Willi Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 |
| ALT_DEFINITION |
A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues. |
| code |
C75463 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. |
| FULL_SYN |
Prader-Labhart-Willi Syndrome Prader-Willi-Labhart Syndrome Prader-Willi Syndrome |
| label |
Prader-Willi Syndrome |
| Legacy Concept Name |
Prader_Willi_Syndrome |
| Preferred_Name |
Prader-Willi Syndrome |
| prefixIRI |
Thesaurus:C75463 |
| prefLabel |
Prader-Willi Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0032897 |
| subClassOf |