Online Mendelian Inheritance in Man - PYLE DISEASE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/265900 http://purl.bioontology.org/ontology/OMIM/265900
Preferred Name	PYLE DISEASE
Synonyms	PYL METAPHYSEAL DYSPLASIA, PYLE TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PYL METAPHYSEAL DYSPLASIA, PYLE TYPE
prefLabel	PYLE DISEASE
Gene Symbol	SFRP4 FRPHE PYL
Scope Statement	Homozygous patients reported no joint pain or muscle weakness [MISCELLANEOUS] Caused by mutation in the secreted frizzled-related protein-4 gene (SFRP4, 606570.0001) [MOLECULAR BASIS] Clinically asymptomatic heterozygous carriers may exhibit mild radiographic changes [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU053751 http://purl.bioontology.org/ontology/OMIM/MTHU067846 http://purl.bioontology.org/ontology/OMIM/MTHU053756 http://purl.bioontology.org/ontology/OMIM/MTHU053743 http://purl.bioontology.org/ontology/OMIM/MTHU053746 http://purl.bioontology.org/ontology/OMIM/MTHU053738 http://purl.bioontology.org/ontology/OMIM/MTHU053755 http://purl.bioontology.org/ontology/OMIM/MTHU020037 http://purl.bioontology.org/ontology/OMIM/MTHU053734 http://purl.bioontology.org/ontology/OMIM/MTHU053742 http://purl.bioontology.org/ontology/OMIM/MTHU053752 http://purl.bioontology.org/ontology/OMIM/MTHU053749 http://purl.bioontology.org/ontology/OMIM/MTHU067847 http://purl.bioontology.org/ontology/OMIM/MTHU006492 http://purl.bioontology.org/ontology/OMIM/MTHU014366 http://purl.bioontology.org/ontology/OMIM/MTHU053748 http://purl.bioontology.org/ontology/OMIM/MTHU053744 http://purl.bioontology.org/ontology/OMIM/MTHU053753 http://purl.bioontology.org/ontology/OMIM/MTHU053754 http://purl.bioontology.org/ontology/OMIM/MTHU053740 http://purl.bioontology.org/ontology/OMIM/MTHU053741 http://purl.bioontology.org/ontology/OMIM/MTHU012423 http://purl.bioontology.org/ontology/OMIM/MTHU053735 http://purl.bioontology.org/ontology/OMIM/MTHU053750 http://purl.bioontology.org/ontology/OMIM/MTHU067848 http://purl.bioontology.org/ontology/OMIM/MTHU053747 See more See less
tui	T047
Gene Locus	7p14.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	265900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0265294
OMIM Entry Type	3
OMIM MimType Value	pound

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