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 |
|
notation |
OMIM:151100 |
|
prefLabel |
LEOPARD syndrome 1 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://identifiers.org/omim/151100 | GEXO | 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 | GEXO | 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 |