Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1

Preferred Label : Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1;

NCIt synonyms : PHOAR1; Pachydermoperiostosis; PDP; Touraine-Solente-Golé Syndrome;

NCIt definition : An autosomal recessive condition caused by mutation(s) in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase. It is characterized by digital clubbing, pachydermia, and hyperhidrosis.;

NCI Metathesaurus CUI : CL1648555;

Details

Origin ID

C179057;

UMLS CUI

C4551679;

Currated CISMeF NLP mapping
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
- hypertrophic osteoarthropathy primary autosomal recessive 1 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Primary hypertrophic osteoarthropathy [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HPGD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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