PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Fanconi Syndrome
Synonyms
Definitions

A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.

ID

http://www.phoc.org.cn/pmo/class/PMO_00037563

Database_Cross_Reference

SNMI:D6-98196

CHV:0000004892

DXP:U000631

MTH:NOCODE

MSH:D005198

NCI_NCI-GLOSS:CDR0000044357

DO:DOID:1062

SNMI:D6-B5310

NCI_NICHD:C3034

NDFRT:N0000001208

MEDCIN:30688

MDR:10037081

SNOMEDCT_US:40488004

MDR:10016219

CCPSS:0011110

OMIM:MTHU006718

AOD:0000005739

JABL:611

NCI:C3034

Definition

A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.

label

Fanconi Syndrome

MCID

MC00004960

PMOID

PMO:00037563

prefixIRI

pmo:PMO_00037563

prefLabel

Fanconi Syndrome

Synonym

Fanconi Syndrome [Disease/Finding]

Infantile nephropathic cystinosis

adult Fanconi syndrome

FANCONI SYNDROME

Lignac-Fanconi syndrome

fanconis syndrome

Fanconi syndrome

adult Fanconi Anemia

nephropathic cystinosis

Lignac-Fanconi Syndrome

Fanconi syndrome (diagnosis)

Proximal Renal Tubular Dysfunction

Congenital Fanconi syndrome

Fanconi syndrome (disorder)

Fanconi syndrome, NOS

Nephropathic cystinosis

Fanconi-de-Toni syndrome

Fanconi-de Toni syndrome

Syndrome, Fanconi

fanconi syndrome

deToni Fanconi syndrome

De Toni-Fanconi syndrome

Fanconi's syndrome

Proximal renal tubular dysfunction

Tree Number

T9.11.1.12.5.5

T9.8.4.14.5.5

T9.19.2.2.3.18.5

T9.24.2.3.18.5

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00037560

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1062 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.250 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0006422 OMIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016219 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0920349 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C3034 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005198 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU006718 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.815.450 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.861.450 RH-MESH LOOM
http://purl.jp/bio/4/id/200906067991979046 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_2200187 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005198 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3034 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/40488004 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1062 NATPRO LOOM
rgo:10824 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_1062 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1062 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1062 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1062 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1062 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1062 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1062 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1062 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.861.450 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4892 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0015624 OCHV LOOM
http://clininf.eu/ckdo#Fanconi_syndrome CKDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.815.450 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2100027 NANDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0015625 OCHV LOOM