Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

RENAL TUBULAR DYSGENESIS

Synonyms

RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA

ID

http://purl.bioontology.org/ontology/OMIM/267430

altLabel

RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA

RTD

PRIMITIVE RENAL TUBULE SYNDROME

cui

C0266313

C2678367

Gene Locus

1q32

Gene Symbol

HNFJ2

REN

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022987

http://purl.bioontology.org/ontology/OMIM/MTHU022979

http://purl.bioontology.org/ontology/OMIM/MTHU022973

http://purl.bioontology.org/ontology/OMIM/MTHU013976

http://purl.bioontology.org/ontology/OMIM/MTHU022971

http://purl.bioontology.org/ontology/OMIM/MTHU022977

http://purl.bioontology.org/ontology/OMIM/MTHU022980

http://purl.bioontology.org/ontology/OMIM/MTHU009025

http://purl.bioontology.org/ontology/OMIM/MTHU012488

http://purl.bioontology.org/ontology/OMIM/MTHU028546

http://purl.bioontology.org/ontology/OMIM/MTHU010082

http://purl.bioontology.org/ontology/OMIM/MTHU022972

http://purl.bioontology.org/ontology/OMIM/MTHU022978

http://purl.bioontology.org/ontology/OMIM/MTHU022976

http://purl.bioontology.org/ontology/OMIM/MTHU022974

http://purl.bioontology.org/ontology/OMIM/MTHU028548

http://purl.bioontology.org/ontology/OMIM/MTHU022982

http://purl.bioontology.org/ontology/OMIM/MTHU022981

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU028545

http://purl.bioontology.org/ontology/OMIM/MTHU022975

http://purl.bioontology.org/ontology/OMIM/MTHU028547

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

267430

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RENAL TUBULAR DYSGENESIS

tui

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD10CN/Q61.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.bmicc.cn/ontology/ICD11CN/LB30.3 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/C537048 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567491 Medical Subject Headings CUI