Human Phenotype Ontology

Last uploaded: June 28, 2024
Preferred Name

Rickets

Synonyms

Weak and soft bones

Definitions

Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.

ID

http://purl.obolibrary.org/obo/HP_0002748

database_cross_reference

UMLS:C0035579

SNOMEDCT_US:41345002

MSH:D012279

definition

Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.

has_exact_synonym

Weak and soft bones

has_obo_namespace

human_phenotype

id

HP:0002748

label

Rickets

notation

HP:0002748

prefLabel

Rickets

treeView

http://purl.obolibrary.org/obo/HP_0004349

subClassOf

http://purl.obolibrary.org/obo/HP_0004349

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0002748 MONDO SAME_URI
http://purl.obolibrary.org/obo/HP_0002748 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0002748 UPHENO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0005520 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_10609 DOID LOOM
http://purl.obolibrary.org/obo/MP_0003116 MP LOOM
http://purl.obolibrary.org/obo/DOID_10609 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10609 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002748 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0005583 EFO LOOM
rgo:32783 GAMUTS LOOM
rgo:32783 GAMUTS LOOM
http://purl.obolibrary.org/obo/MP_0003116 MP LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10609 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.521.500.133.770.734 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26878 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rickets CSEO LOOM
http://radlex.org/RID/RID34716 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10891 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.174.845 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035579 MEDLINEPLUS LOOM
http://www.co-ode.org/ontologies/galen#Rickets GALEN LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035579 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/X40Qn RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10039119 MEDDRA LOOM
http://purl.jp/bio/4/id/200906085567293647 IOBC LOOM
http://www.gamuts.net/entity#rickets GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085633 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_10609 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10609 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10609 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10609 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10609 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10609 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10609 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D012279 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012279 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/2715-1648 CRISP LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU006645 OMIM LOOM
http://purl.bioontology.org/ontology/ICPC2P/T91012 ICPC2P LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.198.816 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1408 IFAR LOOM
http://id.nlm.nih.gov/mesh/D012279 MDM LOOM
http://purl.obolibrary.org/obo/HP_0002748 UPHENO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/41345002 SNOMEDCT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Rickets PEDTERM LOOM
http://purl.obolibrary.org/obo/OMIT_0013193 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C26878 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0005520 DOVES LOOM
http://purl.obolibrary.org/obo/MP_0003116 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003116 CHIRO LOOM
http://purl.org/obo/owl/HP#HP_0002748 BDO LOOM