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loading...| Preferred Name |
Holoprosencephaly |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988 |
| ALT_DEFINITION |
Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies. |
| code |
C74988 |
| 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 rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. |
| FULL_SYN |
Holoprosencephaly Sequence Holoprosencephaly |
| label |
Holoprosencephaly |
| Legacy Concept Name |
Holoprosencephaly |
| Preferred_Name |
Holoprosencephaly |
| prefixIRI |
Thesaurus:C74988 |
| prefLabel |
Holoprosencephaly |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C4011586 |
| subClassOf |
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