loading...| Preferred Name | Thyroid Hormone Resistance Syndrome | |
| Synonyms |
Refetoff-DeWind-DeGroot Syndrome Refetoff Syndrome Hormone Resistance, Thyroid Syndrome, Refetoff Refetoff DeWind DeGroot Syndrome Generalized Resistance to Thyroid Hormone Syndrome, Refetoff-DeWind-DeGroot Generalized Thyroid Hormone Resistance Resistance, Thyroid Hormone Thyroid Hormone Resistance |
|
| Definitions |
An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D018382 |
|
| altLabel |
Refetoff-DeWind-DeGroot Syndrome Refetoff Syndrome Hormone Resistance, Thyroid Syndrome, Refetoff Refetoff DeWind DeGroot Syndrome Generalized Resistance to Thyroid Hormone Syndrome, Refetoff-DeWind-DeGroot Generalized Thyroid Hormone Resistance Resistance, Thyroid Hormone Thyroid Hormone Resistance |
|
| AN |
differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C2940786 C4722330 |
|
| DC |
1 |
|
| definition |
An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels. |
|
| DX |
19950101 |
|
| FX |
D005067 |
|
| HN |
95 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
95 |
|
| Mapped from | ||
| MDA |
19940228 |
|
| MMR |
20190705 |
|
| MN |
C19.874.410.500 |
|
| notation |
D018382 |
|
| prefLabel |
Thyroid Hormone Resistance Syndrome |
|
| TERMUI |
T054810 T054813 T054812 T782945 T054811 T054814 |
|
| TH |
OMIM (2013) NLM (1995) NLM (2012) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |