Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Thanatophoric Dysplasia, Type I
Synonyms	Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
ID	http://purl.bioontology.org/ontology/MESH/C566844
altLabel	Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
cui	C1868678
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D013796 D051498/Q000172
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D013796 http://purl.bioontology.org/ontology/MESH/D051498
MDA	20121105
MeSH Frequency	20
MMR	20140602
notation	C566844
prefLabel	Thanatophoric Dysplasia, Type I
SC	3
Scope Statement	aka TD1; mutations in FGFR3
TERMUI	T809235 T809237 T809236
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/389157002	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/187600	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/134934	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389157002	SNOMEDCT	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566844	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/187600	OMIM	LOOM