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loading...| Preferred Name |
Jacobsen Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75457 |
| code |
C75457 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia. |
| FULL_SYN |
11q Terminal Deletion Disorder Jacobsen Syndrome |
| label |
Jacobsen Syndrome |
| Legacy Concept Name |
Jacobsen_Syndrome |
| Preferred_Name |
Jacobsen Syndrome |
| prefixIRI |
Thesaurus:C75457 |
| prefLabel |
Jacobsen Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0795841 |
| subClassOf |
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