Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Nephronophthisis 2

Synonyms

Nephronophthisis, Infantile

ID

http://purl.bioontology.org/ontology/MESH/C566582

altLabel

Nephronophthisis, Infantile

cui

C1865872

HM

D052177

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D052177

MDA

20121105

MeSH Frequency

16

notation

C566582

prefLabel

Nephronophthisis 2

SC

3

Scope Statement

mutation in inversin

TERMUI

T808780

T808777

TH

OMIM (2013)

tui

T047

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http://purl.obolibrary.org/obo/MONDO_0011190 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011190 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/243305 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/DOID_0111113 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/602088 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/602088 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM