loading...| Preferred Name |
Noonan syndrome with multiple lentigines |
|
| Synonyms |
Moynahan syndrome lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome familial multiple lentigines syndrome generalized lentiginosis LEOPARD syndrome Noonan syndrome with multiple lentigines Gorlin syndrome II lentiginosis profusa syndrome progressive cardiomyopathic lentiginosis Cardiomyopathic lentiginosis generalised lentiginosis lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness |
|
| Definitions |
A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007893 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D044542 SCTID:111306001 NCIT:C84820 Orphanet:500 DOID:14291 MedDRA:10062901 UMLS:C0175704 OMIMPS:151100 ICD9:709.09 NORD:1360 GARD:1100 |
|
| definition |
A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0175704 http://identifiers.org/mesh/D044542 https://omim.org/phenotypicSeries/PS151100 http://purl.obolibrary.org/obo/DOID_14291 http://purl.obolibrary.org/obo/NCIT_C84820 |
|
| has_exact_synonym |
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome familial multiple lentigines syndrome generalized lentiginosis LEOPARD syndrome Noonan syndrome with multiple lentigines Gorlin syndrome II lentiginosis profusa syndrome progressive cardiomyopathic lentiginosis Cardiomyopathic lentiginosis generalised lentiginosis lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness |
|
| has_related_synonym |
Moynahan syndrome lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes |
|
| id |
MONDO:0007893 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Noonan syndrome with multiple lentigines |
|
| notation |
MONDO:0007893 |
|
| preferred label |
Noonan syndrome with multiple lentigines |
|
| prefLabel |
Noonan syndrome with multiple lentigines |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0015161 |