Albright Hereditary Osteodystrophy with Multiple Hormone Resistance

Preferred Label : Albright Hereditary Osteodystrophy with Multiple Hormone Resistance;

NCIt related terms : PHP1a; Pseudohypoparathyroidism Type 1a;

Alternative definition : NICHD: Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency.;

Details

Origin ID

C129721;

UMLS CUI

C3494506;

Currated CISMeF NLP mapping
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type 1A [ICD-11 More detail]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism, type ia [OMIM Phenotype]
- pseudohypoparathyroidism type i a [SNOMED Notion]
- pseudohypoparathyroidism, type ia [MeSH concept]
See also inter- (CISMeF)
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type 1A [ICD-11 More detail]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism, type ia [OMIM Phenotype]
- pseudohypoparathyroidism type i a [SNOMED Notion]
- pseudohypoparathyroidism, type ia [MeSH concept]
Validated automatic mappings to NTBT
- Albright's hereditary osteodystrophy [DO Concept]
- pseudohypoparathyroidism [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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