Preferred Label : Phoar2-enteropathy syndrome;
Symbol : PHOAR2E;
CISMeF acronym : PHOAR2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pdp, autosomal recessive; Pachydermoperiostosis, autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome; PHOAR2; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2;
Description : Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis,
is a rare genetic disease that affects the skin and bones. PHO is characterized by
digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin
manifestations that include thickened facial skin, a thickened scalp, and coarse facial
features (summary by Zhang et al., 2012). For a discussion of genetic heterogeneity
of PHO, see PHOAR1 (259100).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier organic anion transporter family, member
2A1 gene (SLCO2A1, 601460.0001);
Laboratory abnormalities : Elevated urinary PGE(2) levels; Relatively low urinary PGE-M levels;
Prefixed ID : #614441;
Origin ID : 614441;
UMLS CUI : C3280800;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT