Online Mendelian Inheritance in Man - HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/307800 http://purl.bioontology.org/ontology/OMIM/307800
Preferred Name	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
Synonyms	XLHRD HYPOPHOSPHATEMIA, X-LINKED XLH HYP HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS HPDR VITAMIN D-RESISTANT RICKETS, X-LINKED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	XLHRD HYPOPHOSPHATEMIA, X-LINKED XLH HYP HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS HPDR VITAMIN D-RESISTANT RICKETS, X-LINKED See more See less
prefLabel	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
Gene Symbol	HPDR1 PHEX LXHR HYP
Scope Statement	In general, men have more severe disease than women [MISCELLANEOUS] Onset by 1 year of age [MISCELLANEOUS] Caused by mutation in the phosphate regulating endopeptidase homolog, X-linked, gene (PHEX, 300550.0001) [MOLECULAR BASIS] Highly variable phenotype [MISCELLANEOUS] See also autosomal dominant hypophosphatemic rickets (193100) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037545 http://purl.bioontology.org/ontology/OMIM/MTHU007514 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU007512 http://purl.bioontology.org/ontology/OMIM/MTHU006333 http://purl.bioontology.org/ontology/OMIM/MTHU007499 http://purl.bioontology.org/ontology/OMIM/MTHU038291 http://purl.bioontology.org/ontology/OMIM/MTHU007511 http://purl.bioontology.org/ontology/OMIM/MTHU005592 http://purl.bioontology.org/ontology/OMIM/MTHU007513 http://purl.bioontology.org/ontology/OMIM/MTHU007501 http://purl.bioontology.org/ontology/OMIM/MTHU002712 http://purl.bioontology.org/ontology/OMIM/MTHU028905 http://purl.bioontology.org/ontology/OMIM/MTHU007495 http://purl.bioontology.org/ontology/OMIM/MTHU005440 http://purl.bioontology.org/ontology/OMIM/MTHU006649 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU007504 http://purl.bioontology.org/ontology/OMIM/MTHU007506 http://purl.bioontology.org/ontology/OMIM/MTHU007507 http://purl.bioontology.org/ontology/OMIM/MTHU007510 http://purl.bioontology.org/ontology/OMIM/MTHU006324 http://purl.bioontology.org/ontology/OMIM/MTHU007498 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU007497 http://purl.bioontology.org/ontology/OMIM/MTHU007494 http://purl.bioontology.org/ontology/OMIM/MTHU007496 http://purl.bioontology.org/ontology/OMIM/MTHU007508 http://purl.bioontology.org/ontology/OMIM/MTHU007509 http://purl.bioontology.org/ontology/OMIM/MTHU007500 http://purl.bioontology.org/ontology/OMIM/MTHU007493 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU007503 http://purl.bioontology.org/ontology/OMIM/MTHU007502 See more See less
tui	T047
Gene Locus	Xp22.2-p22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	307800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU003993
cui	C0733682 C3536984 C2363065
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display