Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Synonyms

Thanatophoric Dysplasia, Luton Variant

ID

http://purl.bioontology.org/ontology/MESH/C563627

altLabel

Thanatophoric Dysplasia, Luton Variant

PLSD-TL

Platyspondylic Skeletal Dysplasia, Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type

Thanatophoric Dysplasia, Torrance Variant

PLSD-T

Platyspondylic Lethal Skeletal Dysplasia, Luton Type

Platyspondylic Chondrodysplasia, Torrance-Luton Type

cui

C5703068

C1835437

HM

D013796

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D013796

MDA

20121105

MeSH Frequency

1

MMR

20221102

notation

C563627

prefLabel

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

SC

3

TERMUI

T803258

T842292

T844615

T803257

T803260

T844614

T803262

T803256

T842291

TH

OMIM (2013)

GHR (2014)

tui

T047

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http://purl.bioontology.org/ontology/OMIM/151210 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/151210 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/120140 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI