Medical Subject Headings

Last uploaded: November 18, 2019
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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http://www.gamuts.net/entity#thanatophoric_dysplasia_type_2 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_93274 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_93274 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_93274 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_93274 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_93274 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/187601 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0008547 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536508 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Thanatophoric_dysplasia_type_2 BDO LOOM
http://purl.bioontology.org/ontology/SCTSPA/389158007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389158007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389158007 SNOMEDCT LOOM