Albright Hereditary Osteodystrophy without Multiple Hormone Resistance

Preferred Label : Albright Hereditary Osteodystrophy without Multiple Hormone Resistance;

NCIt synonyms : Albright Hereditary Osteodystrophy with Multiple Hormone Resistance;

NCIt related terms : Pseudopseudohypoparathyroidism; PPHP;

Alternative definition : NICHD: A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance.;

Details

Origin ID

C129722;

UMLS CUI

C0033835;

Currated CISMeF NLP mapping
- Pseudopseudohypoparathyroidism [OMIM Phenotype]
- Pseudopseudohypoparathyroidism [ORDO Disease]
- Pseudopseudohypoparathyroidism [ICD-11 More detail]
- Pseudopseudohypoparathyroidism (disorder) [SNOMED CT concept]
- normocalcemic pseudohypoparathyroidism [SNOMED Notion]
- pseudopseudohypoparathyroidism [DO Concept]
- pseudopseudohypoparathyroidism [MeSH concept]
- pseudopseudohypoparathyroidism [MeSH Descriptor]
DO Cross reference
- pseudopseudohypoparathyroidism [DO Concept]
See also inter- (CISMeF)
- 5-phenylpent-4-enyl-1-hydroperoxide [MeSH Supplementary Concept]
- Pseudohypoparathyroidism (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism, type ia [OMIM Phenotype]
- pseudohypoparathyroidism [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudopseudohypoparathyroidism [ORDO Disease]
- Pseudopseudohypoparathyroidism [OMIM Phenotype]
- Pseudopseudohypoparathyroidism [ICD-11 More detail]
- Pseudopseudohypoparathyroidism (disorder) [SNOMED CT concept]
- normocalcemic pseudohypoparathyroidism [SNOMED Notion]
- pseudopseudohypoparathyroidism [DO Concept]
- pseudopseudohypoparathyroidism [MeSH Descriptor]
- pseudopseudohypoparathyroidism [MeSH concept]
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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