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loading...| Preferred Name |
LEOPARD syndrome 1 |
|
| Synonyms |
LEOPARD1 |
|
| Definitions |
(LEOPARD1) - A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. |
|
| ID |
http://identifiers.org/omim/151100 |
|
| altLabel |
LEOPARD1 |
|
| definition |
(LEOPARD1) - A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. |
|
| id |
OMIM:151100 |
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| notation |
OMIM:151100 |
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| prefLabel |
LEOPARD syndrome 1 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/151100 | REXO | SAME_URI | |
| http://identifiers.org/omim/151100 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0100082 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_151100 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/151100 | OMIM | LOOM | |
| http://identifiers.org/omim/151100 | REXO | LOOM | |
| http://identifiers.org/omim/151100 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0100082 | DOVES | LOOM | |
| http://id.nlm.nih.gov/mesh/D044542 | MDM | LOOM |