Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Rhizomelic chondrodysplasia punctata, type 3
Synonyms

Alkyldihydroxyacetonephosphate synthase deficiency
ID

http://purl.bioontology.org/ontology/MESH/C537608
altLabel

Alkyldihydroxyacetonephosphate synthase deficiency

AGPS deficiency

Alkylglycerone-Phosphate Synthase Deficiency
cui

C1838612
HM

D018902
Inverse of RB

0
Mapped to

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

20100825
MeSH Frequency

2
MMR

20120824
notation

C537608
prefLabel

Rhizomelic chondrodysplasia punctata, type 3
SC

3
TERMUI

T743157

T743160

T743159

T804035
TH

ORD (2010)

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110853 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/603051 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/600121 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/600121 Online Mendelian Inheritance in Man LOOM