Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Thanatophoric Dysplasia, Type I
Synonyms	Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
ID	http://purl.bioontology.org/ontology/MESH/C566844
altLabel	Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, 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/D051498 http://purl.bioontology.org/ontology/MESH/D013796
MDA	20121105
MeSH Frequency	14
MMR	20140602
notation	C566844
prefLabel	Thanatophoric Dysplasia, Type I
SC	3
Scope Statement	aka TD1; mutations in FGFR3
TERMUI	T809237 T809235 T809236
TH	ORD (2010) OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/187600	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/187600	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/134934	Online Mendelian Inheritance in Man	CUI