Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

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	3
MMR	20120824
notation	C537608
prefLabel	Rhizomelic chondrodysplasia punctata, type 3
SC	3
TERMUI	T743157 T743160 T743159 T804035
TH	ORD (2010) OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110853	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/603051	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.obolibrary.org/obo/MONDO_0010823	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0010823	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/OMIM/600121	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/600121	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://www.orpha.net/ORDO/Orphanet_309803	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM