Hypertrophic osteoarthropathy, primary, autosomal dominant

Preferred Label : Hypertrophic osteoarthropathy, primary, autosomal dominant;

Symbol : PHOAD;

CISMeF acronym : PHOAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pho, autosomal dominant; Pdp, autosomal dominant; Pachydermoperiostosis, autosomal dominant;

Description : For a phenotypic description and a discussion of genetic heterogeneity of hypertrophic osteoarthropathy, see 259100. Also see isolated congenital digital clubbing (119900).;

Inheritance : Autosomal dominant; ? heterogeneity;

Prefixed ID : #167100;

Details

Origin ID

167100;

UMLS CUI

C2674695;

Automatic exact mappings (from CISMeF team)
- Pachydermoperiostosis [ORDO Disease]
- Primary hypertrophic osteoarthropathy [ORDO Disease]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
Currated CISMeF NLP mapping
- hypertrophic osteoarthropathy, primary, autosomal dominant [MeSH concept]
Genes related to phenotype
- Solute carrier organic anion transporter family, member 2a1 [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clubbing of fingers [HPO term]
- Cutis gyrata of scalp [HPO term]
- Elevated urinary prostaglandin E2 level [HPO term]
- Hyperhidrosis [HPO term]
- Knee pain [HPO term]
- Periosteal thickening of long tubular bones [HPO term]
- Ptosis [HPO term]
- Seborrheic dermatitis [HPO term]
- Secretory diarrhea [HPO term]
- Thickened skin [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Pachydermoperiostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypertrophic osteoarthropathy, primary, autosomal dominant [MeSH concept]

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