Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Thanatophoric dysplasia, type 2

Synonyms

Thanatophoric Dysplasia, Type Ii

ID

http://purl.bioontology.org/ontology/MESH/C536508

altLabel

Thanatophoric Dysplasia, Type Ii

Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull

Cloverleaf skull with thanatophoric dwarfism

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/D012886

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

MDA

20100825

MeSH Frequency

11

MMR

20131106

notation

C536508

prefLabel

Thanatophoric dysplasia, type 2

SC

3

TERMUI

T739551

T739550

T802441

T739549

T826885

TH

ORD (2010)

OMIM (2013)

tui

T047

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_93274 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/134934 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/187601 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.obolibrary.org/obo/MONDO_0008547 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008547 Experimental Factor Ontology / 实验性因素本体 LOOM