Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

multiple endocrine neoplasia type 2A

Synonyms

Sipple syndrome

Definitions

A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050430

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C3226

SNOMEDCT_US_2022_09_01:721188000

UMLS_CUI:C0025268

OMIM:171400

ORDO:247698

MESH:D018813

ICD9CM:258.02

ICD10CM:E31.22

definition

A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

has exact synonym

Sipple syndrome

multiple endocrine neoplasia II

MEN2A

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0050430

in_subset

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

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

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

label

multiple endocrine neoplasia type 2A

notation

DOID:0050430

prefLabel

multiple endocrine neoplasia type 2A

subClassOf

http://purl.obolibrary.org/obo/DOID_3125

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

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3226 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D018813 Medical Subject Headings LOOM