loading...| Preferred Name |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 |
|
| Synonyms |
CHNG4 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/275100 |
|
| altLabel |
CHNG4 THYROID-STIMULATING HORMONE DEFICIENCY THYROTROPIN DEFICIENCY, ISOLATED TSH DEFICIENCY PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE |
|
| cui |
C4082174 C1848794 C3665349 C0271789 |
|
| Gene Locus |
1p13 |
|
| Gene Symbol |
TSHB CHNG4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022906 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU005345 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU004141 http://purl.bioontology.org/ontology/OMIM/MTHU022907 http://purl.bioontology.org/ontology/OMIM/MTHU022904 http://purl.bioontology.org/ontology/OMIM/MTHU022908 http://purl.bioontology.org/ontology/OMIM/MTHU000268 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
275100 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 |
|
| Scope Statement |
Caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (TSHB, 188540.0001) [MOLECULAR BASIS] |
|
| tui |
T047 T033 |