Preferred Name

THYROID DYSHORMONOGENESIS 3

Synonyms

THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

ID

http://purl.bioontology.org/ontology/OMIM/274700

altLabel

THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

TDH3

HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3

cui

C0342194

Gene Locus

8q24.2-q24.3

Gene Symbol

TDH3

AITD3

TG

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025699

http://purl.bioontology.org/ontology/OMIM/MTHU025713

http://purl.bioontology.org/ontology/OMIM/MTHU025711

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU001215

http://purl.bioontology.org/ontology/OMIM/MTHU025712

http://purl.bioontology.org/ontology/OMIM/MTHU025710

http://purl.bioontology.org/ontology/OMIM/MTHU016105

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

274700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

THYROID DYSHORMONOGENESIS 3

Scope Statement

Caused by mutation in the thyroglobulin gene (TG, 188450.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010135 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0112187 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C562769 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562769 Medical Subject Headings / 医学主题词表 LOOM