loading...| Preferred Name |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 |
|
| Synonyms |
CHNG2 THYROID DYSGENESIS RESISTANCE TO THYROTROPIN THYROID HYPOPLASIA THYROTROPIN RESISTANCE RTSH HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS HYPOTHYROIDISM, ATHYREOTIC ATHYREOTIC HYPOTHYROIDISM THYROID AGENESIS THYROID, ECTOPIC |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/218700 |
|
| altLabel |
CHNG2 THYROID DYSGENESIS RESISTANCE TO THYROTROPIN THYROID HYPOPLASIA THYROTROPIN RESISTANCE RTSH HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS HYPOTHYROIDISM, ATHYREOTIC ATHYREOTIC HYPOTHYROIDISM THYROID AGENESIS THYROID, ECTOPIC |
|
| cui |
C0151516 C0266283 C1869118 C4722330 C1563716 C0749420 |
|
| Gene Locus |
2q12-q14 |
|
| Gene Symbol |
PAX8 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU065275 http://purl.bioontology.org/ontology/OMIM/MTHU065285 http://purl.bioontology.org/ontology/OMIM/MTHU023433 http://purl.bioontology.org/ontology/OMIM/MTHU065284 http://purl.bioontology.org/ontology/OMIM/MTHU065278 http://purl.bioontology.org/ontology/OMIM/MTHU065282 http://purl.bioontology.org/ontology/OMIM/MTHU065277 http://purl.bioontology.org/ontology/OMIM/MTHU065281 http://purl.bioontology.org/ontology/OMIM/MTHU065279 http://purl.bioontology.org/ontology/OMIM/MTHU038801 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
218700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 |
|
| Scope Statement |
Sensitivity to cold (if untreated) [MISCELLANEOUS] Intrafamilial phenotypic variability [MISCELLANEOUS] Caused by mutation in the paired box homeotic gene 8 (PAX8, 167415.0002) [MOLECULAR BASIS] Incomplete penetrance (in some families) [MISCELLANEOUS] Progressive reduction in thyroid size (in some patients) [MISCELLANEOUS] |
|
| tui |
T047 T019 |