loading...| Preferred Name |
Joubert syndrome 14 |
| Synonyms |
JBTS14 TMEM237 Joubert syndrome Joubert syndrome 14 Joubert syndrome type 14 Joubert syndrome caused by mutation in TMEM237 |
| Definitions |
Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0013745 |
| database_cross_reference |
OMIM:614424 DOID:0110983 Orphanet:220497 UMLS:C3280766 |
| definition |
Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. |
| exactMatch | |
| has_exact_synonym |
JBTS14 TMEM237 Joubert syndrome Joubert syndrome 14 Joubert syndrome type 14 Joubert syndrome caused by mutation in TMEM237 |
| id |
MONDO:0013745 |
| label |
Joubert syndrome 14 |
| notation |
MONDO:0013745 |
| prefLabel |
Joubert syndrome 14 |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0022410 http://purl.obolibrary.org/obo/MONDO_0018772 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022410 http://purl.obolibrary.org/obo/MONDO_0018772 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0110983 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/614424 | Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 | LOOM |