Thyroid hormone resistance, generalized, autosomal dominant

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

Symbol : GRTHD;

CISMeF acronym : GRTH; GTHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GTHR; Thyroid hormone unresponsiveness; Hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones;

Inheritance : Autosomal dominant form; also a recessive form;

Prefixed ID : #188570;

Details

Origin ID

188570;

UMLS CUI

C2937288;

Automatic exact mappings (from CISMeF team)
- DEAD-box helicase 25 [HGNC gene]
- Generalized Thyroid Hormone Resistance [NCIt concept]
- Generalized resistance to thyroid hormone [ORDO Disease]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- thyroid hormone receptor beta [ORDO Gene]
- thyroid hormone receptor beta [HGNC gene]
Currated CISMeF NLP mapping
- thyroid hormone resistance, generalized, autosomal dominant [MeSH concept]
- thyroid hormone resistance, generalized, autosomal dominant [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)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Goiter [HPO term]
- Impaired sensitivity to thyroid hormone [HPO term]
- Increased circulating free T3 [HPO term]
- Speech delay [HPO term]
- Thyroid hormone resistance [HPO term]
- Usually autosomal dominant [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized Thyroid Hormone Resistance [NCIt concept]
- Peripheral resistance to thyroid hormones [ORDO Disease]
- thyroid hormone resistance, generalized, autosomal dominant [MeSH Supplementary Concept]
- thyroid hormone resistance, generalized, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- thyroid hormone resistance syndrome [Disease (Nov.)]

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