Medical Subject Headings

Last uploaded: November 18, 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

16

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

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