Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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

http://purl.obolibrary.org/obo/OGMS_0000031

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