Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Thyroid Dyshormonogenesis 3

Synonyms

Thyroid Hormonogenesis, Genetic Defect in, 3

ID

http://purl.bioontology.org/ontology/MESH/C562769

altLabel

Thyroid Hormonogenesis, Genetic Defect in, 3

Hypothyroidism, Congenital, due to Dyshormonogenesis, 3

cui

C0342194

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000002

HM

D013961/Q000002

D007037

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D013961

http://purl.bioontology.org/ontology/MESH/D007037

MDA

20121105

MeSH Frequency

2

MMR

20131106

notation

C562769

prefLabel

Thyroid Dyshormonogenesis 3

SC

3

Scope Statement

PROM mutation in thyroglobulin

TERMUI

T827507

T827508

T801455

TH

OMIM (2013)

tui

T047

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http://purl.bioontology.org/ontology/OMIM/MTHU025711 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/MONDO_0010135 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/274700 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/274700 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/188450 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_0112187 Human Disease Ontology / 人类疾病本体 LOOM