Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Medullary sponge kidney

Synonyms

Precalicial canalicular ectasia

Definitions

A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.

ID

http://www.orpha.net/ORDO/Orphanet_1309

alternative_term

Precalicial canalicular ectasia

MSK

Cacchi-Ricci disease

definition

A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309

has_age_of_onset

Adult

Childhood

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

MeSH:D007691

ICD-10:Q61.5

UMLS:C0022681

ICD-11:LB30.8

MedDRA:10027104

label

Medullary sponge kidney

notation

ORPHA:1309

part_of

http://www.orpha.net/ORDO/Orphanet_357506

http://www.orpha.net/ORDO/Orphanet_93546

prefixIRI

ORDO:Orphanet_1309

prefLabel

Medullary sponge kidney

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_357506

http://www.orpha.net/ORDO/Orphanet_93546

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_1309 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015268 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200173 NANDO LOOM
rgo:16446 GAMUTS LOOM
rgo:16446 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0015268 EFO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037536 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34751 NCIT LOOM
http://id.nlm.nih.gov/mesh/D007691 MDM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU067062 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007691 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Medullary_Sponge_Kidney PEDTERM LOOM
http://www.gamuts.net/entity#medullary_sponge_kidney GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10027104 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3626 HRDO LOOM
http://radlex.org/RID/RID34675 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.403.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0022681 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.403.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7106 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C34751 BERO LOOM
http://purl.jp/bio/4/id/200906024809294474 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Medullary_Sponge_Kidney CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0015268 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015268 KTAO LOOM
http://purl.bioontology.org/ontology/RCD/X30JB RCD LOOM
http://purl.obolibrary.org/obo/OMIT_0008796 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D007691 MESH LOOM
http://www.co-ode.org/ontologies/galen#MedullarySpongeKidney GALEN LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/236443009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD9CM/753.17 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/753.17 NLMVS LOOM
http://www.gamuts.net/entity#medullary_sponge_kidney GAMUTS REST
http://www.gamuts.net/entity#medullary_sponge_kidney GAMUTS REST
http://www.gamuts.net/entity#medullary_sponge_kidney GAMUTS REST