Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Osteopetrosis autosomal dominant type 1

Synonyms

Osteopetrosis, Autosomal Dominant 1

ID

http://purl.bioontology.org/ontology/MESH/C536056

altLabel

Osteopetrosis, Autosomal Dominant 1

Osteopetrosis, Autosomal Dominant, Type I

cui

C1843330

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000151

HM

D010022/Q000151

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D010022

MDA

20100825

MeSH Frequency

2

MMR

20131106

notation

C536056

prefLabel

Osteopetrosis autosomal dominant type 1

SC

3

Scope Statement

mutationin LRP5

TERMUI

T804740

T738099

T804739

TH

ORD (2010)

OMIM (2013)

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/607634 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/603506 Online Mendelian Inheritance in Man CUI