loading...| Preferred Name |
Alagille syndrome 2 |
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| Synonyms |
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| Definitions |
(ALGS2): A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_610205 |
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| definition |
(ALGS2): A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:610205 |
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| label |
Alagille syndrome 2 |
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| notation |
OMIM:610205 |
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| prefLabel |
Alagille syndrome 2 |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/610205 | OMIM | LOOM | |
| http://identifiers.org/omim/610205 | REXO | LOOM | |
| http://identifiers.org/omim/610205 | GEXO | LOOM | |
| http://identifiers.org/omim/610205 | RETO | LOOM |