Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Thanatophoric dysplasia, type 2
Synonyms	Thanatophoric Dysplasia, Type Ii Cloverleaf skull with thanatophoric dwarfism Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull Thanatophoric dysplasia with Kleeblattschaedel
ID	http://purl.bioontology.org/ontology/MESH/C536508
altLabel	Thanatophoric Dysplasia, Type Ii Cloverleaf skull with thanatophoric dwarfism Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull Thanatophoric dysplasia with Kleeblattschaedel
cui	C1300257
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
HM	D013796 D012886/Q000002
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D013796 http://purl.bioontology.org/ontology/MESH/D012886
MDA	20100825
MeSH Frequency	11
MMR	20131106
notation	C536508
prefLabel	Thanatophoric dysplasia, type 2
SC	3
TERMUI	T739549 T739551 T739550 T802441 T826885
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/389158007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/134934	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/187601	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/389158007	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0008547	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536508	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/389158007	SNOMEDCT	LOOM
http://purl.org/skeletome/bonedysplasia#Thanatophoric_dysplasia_type_2	BDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008547	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008547	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008547	DOVES	LOOM
http://nanbyodata.jp/ontology/NANDO_1200876	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_93274	ORDO	LOOM
rgo:33178	GAMUTS	LOOM