Albright's Hereditary Osteodystrophy

Preferred Label : Albright's Hereditary Osteodystrophy;

NCIt synonyms : Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance; Pseudohypoparathyroidism, Type IA; PHP1A;

NCIt related terms : Albright Hereditary Osteodystrophy;

CISMeF acronym : PHP1A;

NCIt definition : A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism.;

Alternative definition : NICHD: Generalized osteodystrophy associated with heterozygous inactivating mutation(s) in the GNAS gene encoding guanine nucleotide-binding protein, alpha-stimulating (Gs-alpha), characterized by short stature, subcutaneous ossification, and skeletal anomalies. If the mutation is on the paternal allele, hormone resistance is absent. If the mutation is on the maternal allele, hormone resistance is present.;

Details

Origin ID

C118434;

UMLS CUI

C3494506;

Automatic exact mappings (from CISMeF team)
- fibrous dysplasia, polyostotic [MeSH Descriptor]
- pseudohypoparathyroidism, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Albright hereditary osteodystrophy [ORDO Disease]
- Albright's hereditary osteodystrophy [DO Concept]
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy [ICD-11 More detail]
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy [ORDO Disease]
- pseudohypoparathyroidism type i a [SNOMED Notion]
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
- Pseudohypoparathyroidism (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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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