Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

thyroid dyshormonogenesis 6

Synonyms

hypothyroidism, congenital, due to dyshormonogenesis, 6

familial thyroid dyshormonogenesis caused by mutation in DUOX2

TDH6

thyroid hormonogenesis, genetic defect in, 6

DUOX2 familial thyroid dyshormonogenesis

thyroid dyshormonogenesis 6

thyroid dyshormonogenesis type 6

Definitions

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0011792

database_cross_reference

MESH:C564608

DOID:0112189

OMIM:607200

UMLS:C1846632

definition

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0112189

http://identifiers.org/mesh/C564608

https://omim.org/entry/607200

http://linkedlifedata.com/resource/umls/id/C1846632

has_exact_synonym

familial thyroid dyshormonogenesis caused by mutation in DUOX2

DUOX2 familial thyroid dyshormonogenesis

thyroid dyshormonogenesis 6

thyroid dyshormonogenesis type 6

has_related_synonym

hypothyroidism, congenital, due to dyshormonogenesis, 6

TDH6

thyroid hormonogenesis, genetic defect in, 6

id

MONDO:0011792

label

thyroid dyshormonogenesis 6

notation

MONDO:0011792

prefLabel

thyroid dyshormonogenesis 6

treeView

http://purl.obolibrary.org/obo/MONDO_0010132

subClassOf

http://purl.obolibrary.org/obo/MONDO_0010132

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http://purl.bioontology.org/ontology/MESH/C564608 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/607200 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_0112189 Human Disease Ontology / 人类疾病本体 LOOM