HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1

PDP, AUTOSOMAL RECESSIVE

http://purl.bioontology.org/ontology/OMIM/259100

PDP, AUTOSOMAL RECESSIVE

CURRARINO IDIOPATHIC OSTEOARTHROPATHY

CIO

PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE

FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD

PHOAR1

COA

CRANIOOSTEOARTHROPATHY

TOURAINE-SOLENTE-GOLE SYNDROME

PHO, AUTOSOMAL RECESSIVE

C0029411

C2678439

C4551679

4q34-q35

HPGD

PHOAR1

PGDH1

http://purl.bioontology.org/ontology/OMIM/MTHU025952

http://purl.bioontology.org/ontology/OMIM/MTHU000682

http://purl.bioontology.org/ontology/OMIM/MTHU025958

http://purl.bioontology.org/ontology/OMIM/MTHU025955

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU011701

http://purl.bioontology.org/ontology/OMIM/MTHU025947

http://purl.bioontology.org/ontology/OMIM/MTHU010439

http://purl.bioontology.org/ontology/OMIM/MTHU025963

http://purl.bioontology.org/ontology/OMIM/MTHU025950

http://purl.bioontology.org/ontology/OMIM/MTHU025956

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU009554

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU025953

http://purl.bioontology.org/ontology/OMIM/MTHU025946

http://purl.bioontology.org/ontology/OMIM/MTHU025954

http://purl.bioontology.org/ontology/OMIM/MTHU007334

http://purl.bioontology.org/ontology/OMIM/MTHU013294

http://purl.bioontology.org/ontology/OMIM/MTHU045588

http://purl.bioontology.org/ontology/OMIM/MTHU025961

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU025957

http://purl.bioontology.org/ontology/OMIM/MTHU016807

http://purl.bioontology.org/ontology/OMIM/MTHU000033

http://purl.bioontology.org/ontology/OMIM/MTHU013230

http://purl.bioontology.org/ontology/OMIM/MTHU013780

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU025960

http://purl.bioontology.org/ontology/OMIM/MTHU025959

http://purl.bioontology.org/ontology/OMIM/MTHU001688

http://purl.bioontology.org/ontology/OMIM/MTHU025951

http://purl.bioontology.org/ontology/OMIM/MTHU005063

http://purl.bioontology.org/ontology/OMIM/MTHU025962

http://purl.bioontology.org/ontology/OMIM/MTHU007296

http://purl.bioontology.org/ontology/OMIM/MTHU025949

http://purl.bioontology.org/ontology/OMIM/MTHU025948

Phenotype description, molecular basis known.

259100

3

pound

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1

Male to female ratio of 7:1 [MISCELLANEOUS]

Exacerbation at puberty [MISCELLANEOUS]

Onset at birth [MISCELLANEOUS]

Males are more severely affected than females [MISCELLANEOUS]

Caused by mutation in the 15-alpha-hydroxyprostaglandin dehydrogenase gene (HPGD, 601688.0001). [MOLECULAR BASIS]

T047