Thyroid hormone resistance, generalized, autosomal recessive

Preferred Label : Thyroid hormone resistance, generalized, autosomal recessive;

Symbol : GRTHR;

CISMeF acronym : GRTH; GTHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Refetoff syndrome; GTHR; Thyroid hormone unresponsiveness;

Inheritance : Autosomal recessive;

Prefixed ID : #274300;

Details

Origin ID

274300;

UMLS CUI

C3489796;

Automatic exact mappings (from CISMeF team)
- DEAD-box helicase 25 [HGNC gene]
- thyroid hormone receptor beta [ORDO Gene]
- thyroid hormone receptor beta [HGNC gene]
Currated CISMeF NLP mapping
- Generalised resistance to thyroid hormone [ICD-11 Category]
- Generalized Thyroid Hormone Resistance [NCIt concept]
- Generalized resistance to thyroid hormone [ORDO Disease]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- refetoff syndrome [SNOMED Notion]
- thyroid hormone resistance syndrome [MeSH concept]
- thyroid hormone resistance, generalized, autosomal recessive [MeSH concept]
- thyroid hormone resistance, generalized, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- thyroid hormone resistance syndrome [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital deafness [HPO term]
- End-organ unresponsiveness to thyroid hormone [HPO term]
- Epiphyseal stippling [HPO term]
- Goiter [HPO term]
- Hearing impairment [HPO term]
- Impaired sensitivity to thyroid hormone [HPO term]
- Proptosis [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Generalized resistance to thyroid hormone [ORDO Disease]
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta [ORDO Disease]
See also inter- (CISMeF)
- Refetoff syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thyroid hormone resistance, generalized, autosomal recessive [MeSH Supplementary Concept]
- thyroid hormone resistance, generalized, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- Generalised resistance to thyroid hormone [MedDRA Preferred Term]
- Generalized resistance to thyroid hormone [MedDRA LLT]
- Generalized thyroid hormone resistance (disorder) [SNOMED CT concept]
- Thyroid Hormone Resistance Syndrome [NCIt concept]
- Thyroid hormone resistance [HPO term]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- thyroid hormone resistance syndrome [MeSH Descriptor]
- thyroid hormone resistance syndrome [Disease (Nov.)]
- thyroid hormone resistance syndrome [DO Concept]

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