loading...| Preferred Name |
Bonnevie-Ullrich Syndrome |
|
| Synonyms |
Bonnevie-Ullrich Syndrome |
|
| Definitions |
A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34434 |
|
| code |
C34434 |
|
| DEFINITION |
A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy. |
|
| FULL_SYN |
Bonnevie-Ullrich Syndrome |
|
| label |
Bonnevie-Ullrich Syndrome |
|
| Legacy Concept Name |
Bonnevie-Ullrich_Syndrome |
|
| Preferred_Name |
Bonnevie-Ullrich Syndrome |
|
| prefixIRI |
Thesaurus:C34434 |
|
| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
|
| UMLS_CUI |
C1527168 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0100492 | MONDO | LOOM | |
| http://www.owl-ontologies.com/NPOntology.owl#DOID_5448 | NATPRO | LOOM | |
| http://id.nlm.nih.gov/mesh/D014424 | MDM | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C34434 | BERO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0100492 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10006017 | MEDDRA | LOOM |