Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
Synonyms

HYPOPHOSPHATEMIA, X-LINKED

XLHR

XLH

HYP

HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS

HPDR

VITAMIN D-RESISTANT RICKETS, X-LINKED
ID

http://purl.bioontology.org/ontology/OMIM/307800
altLabel

HYPOPHOSPHATEMIA, X-LINKED

XLHR

XLH

HYP

HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS

HPDR

VITAMIN D-RESISTANT RICKETS, X-LINKED
cui

C0733682

C3536984

C2363065
Gene Locus

Xp22.2-p22.1
Gene Symbol

HPDR1

PHEX

LXHR

HYP
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

307800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D053098 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-34130 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10039121 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D053098 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D053098 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/82236004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40Qq RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82236004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D053098 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10039120 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10047578 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D063730 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-34130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10039121 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10047578 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10047578 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/E83.31 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10039120 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C3532 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10039120 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82236004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10039121 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D063730 MESH CUI
http://purl.obolibrary.org/obo/DOID_0050445 CLO LOOM
http://purl.org/skeletome/bonedysplasia#Hypophosphatemic_rickets_X-linked_dominant BDO LOOM
http://purl.jp/bio/4/id/200906071225291633 IOBC LOOM
http://identifiers.org/omim/307800 REXO LOOM
http://identifiers.org/omim/307800 GEXO LOOM
http://identifiers.org/omim/307800 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_307800 CCO LOOM
http://id.nlm.nih.gov/mesh/D053098 MDM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050445 NATPRO LOOM