Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Rhizomelic chondrodysplasia punctata, type 1
Synonyms

Chondrodystrophia calcificans punctata
ID

http://purl.bioontology.org/ontology/MESH/C531651
altLabel

Chondrodystrophia calcificans punctata
cui

C1859133
HM

D018902
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D018902
MDA

20100825
MeSH Frequency

13
MMR

20121105
notation

C531651
prefLabel

Rhizomelic chondrodysplasia punctata, type 1
SC

3
TERMUI

T727120

T727123
TH

ORD (2010)

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/215100 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/215100 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_0110851 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/601757 Online Mendelian Inheritance in Man CUI