loading...| Preferred Name |
Noonan syndrome with multiple lentigines |
|
| Synonyms |
LEOPARD syndrome Progressive cardiomyopathic lentiginosis |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14291 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0175704 MESH:D044542 SNOMEDCT_US_2020_03_01:111306001 OMIM:PS151100 GARD:1100 NCI:C84820 ORDO:500 |
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| has exact synonym |
LEOPARD syndrome Progressive cardiomyopathic lentiginosis Generalized lentiginosis Multiple lentigines syndrome Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Moynahan syndrome Lentiginosis profusa syndrome Gorlin syndrome II |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14291 |
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| imported from | ||
| in_subset | ||
| label |
Noonan syndrome with multiple lentigines |
|
| notation |
DOID:14291 |
|
| prefLabel |
Noonan syndrome with multiple lentigines |
|
| textual definition |
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. |
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| subClassOf |
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