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 |
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 |