Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Carney complex

Synonyms

Carney complex variant

Definitions

A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050471

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C1854540

UMLS_CUI:C0406810

OMIM:160980

GARD:1119

OMIM:605244

UMLS_CUI:C2607929

MESH:D056733

ORDO:1359

SNOMEDCT_US_2022_09_01:733491005

NCI:C4705

OMIM:608837

definition

A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

has exact synonym

Carney complex variant

Carney Syndrome

Carney Complex, Type 1

Carney Complex, Type 2

NAME Syndrome

LAMB Syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0050471

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Carney complex

notation

DOID:0050471

prefLabel

Carney complex

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050736

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http://purl.obolibrary.org/obo/DOID_0050471 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050471 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/D056733 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0015285 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015285 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4705 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_1359 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM