Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609893
http://purl.bioontology.org/ontology/OMIM/609893
|
|---|---|
| Preferred Name | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3 |
| Synonyms |
CHNG3
RESISTANCE TO THYROTROPIN
THYROTROPIN RESISTANCE
RTSH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHNG3
RESISTANCE TO THYROTROPIN
THYROTROPIN RESISTANCE
RTSH
|
|---|---|
| prefLabel | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
|
| Gene Symbol | STRTS
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Some patients have subclinical hypothyroidism and are identified as adults with multinodular goiter [MISCELLANEOUS]
Caused by mutation in the thyroid-specific TTTG(4) short tandem repeat (STR) (STRTS, 620900.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 15q26.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609893
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2940785
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |