Thyroid hormone resistance, selective pituitary

Preferred Label : Thyroid hormone resistance, selective pituitary;

Symbol : PRTH;

CISMeF acronym : PRTH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperthyroidism, familial, due to inappropriate thyrotropin secretion;

Inheritance : Autosomal dominant;

Prefixed ID : #145650;

Details

Origin ID

145650;

UMLS CUI

C1840364;

Automatic exact mappings (from CISMeF team)
- Peripheral Resistance to Thyroid Hormone [NCIt concept]
- symbol withdrawn PRTH [HGNC gene]
Currated CISMeF NLP mapping
- Pituitary resistance to thyroid hormone [ORDO Disease]
- Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta (disorder) [SNOMED CT concept]
- Selective pituitary resistance to thyroid hormone [ICD-11 More detail]
- selective pituitary thyroid hormone resistance [DO Concept]
- thyroid hormone resistance, selective pituitary [MeSH concept]
- thyroid hormone resistance, selective pituitary [MeSH Supplementary Concept]
DO Cross reference
- selective pituitary thyroid hormone resistance [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor, beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Hyperthyroidism [HPO term]
- Impaired sensitivity to thyroid hormone [HPO term]
- Thyroid hormone resistance [HPO term]
ORDO concept(s)
- Pituitary 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)
- Pituitary resistance to thyroid hormone [ORDO Disease]
- Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta (disorder) [SNOMED CT concept]
- Selective pituitary resistance to thyroid hormone [ICD-11 More detail]
- selective pituitary thyroid hormone resistance [DO Concept]
- thyroid hormone resistance, selective pituitary [MeSH Supplementary Concept]
- thyroid hormone resistance, selective pituitary [MeSH concept]

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