Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Hypophosphatemic rickets
Synonyms
Definitions

A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.

ID

http://www.orpha.net/ORDO/Orphanet_437

definition

A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=437

has_age_of_onset

All ages

has_inheritance

X-linked dominant

Autosomal recessive

Autosomal dominant

hasDbXref

MeSH:D063730

MedDRA:10060873

ICD-11:5C63.22

UMLS:C1704375

label

Hypophosphatemic rickets

notation

Clinical group

ORPHA:437

prefixIRI

ORDO:Orphanet_437

prefLabel

Hypophosphatemic rickets

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

http://www.orpha.net/ORDO/Orphanet_289098

http://www.orpha.net/ORDO/Orphanet_93603

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_183592

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