PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Thanatophoric Dysplasia
Synonyms
Definitions

An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036786

Database_Cross_Reference

JABL:627

MTH:NOCODE

SNOMEDCT_US:29352008

ICD10AM:Q77.1

RCD:PG442

DO:DOID:13481

NCI:C85187

SNMI:D4-00A27

SNM:D-5255

ICD10:Q77.1

NDFRT:N0000002920

MEDCIN:330542

MSH:D013796

SNM:M-70340

CHV:0000012151

NCI_NICHD:C85187

ICD10CM:Q77.1

MDR:10049808

Definition

An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

label

Thanatophoric Dysplasia

MCID

MC00012687

PMOID

PMO:00036786

prefixIRI

pmo:PMO_00036786

prefLabel

Thanatophoric Dysplasia

Synonym

thanatophoric dwarfism

osteochondrodys w/ defects grow tubular bones&spine thanatophoric short stature

Dwarfism, Thanatophoric

Dwarfisms, Thanatophoric

thanatophoric short stature

thanatophoric dwarf

thanatophoric dysplasia

Thanatophoric short stature

Thanatophoric dwarfism syndrome

Thanatophoric dwarfism

thanatophoric short stature (diagnosis)

thanatophoric dysplasia (TD)

Dysplasias, Thanatophoric

Thanatophoric Dysplasias

Thanatophoric dysplasia

Thanatophoric Short Stature

Thanatophoric Dysplasia [Disease/Finding]

Thanatophoric dysplasia (disorder)

Thanatophoric Dwarfisms

Dwarf, thanatophoric

Thanatophoric dwarf

TD - Thanatophoric dwarfism

Dysplasia, Thanatophoric

Thanatophoric Dwarfism

Tree Number

T9.3.9.22.5.1.1

T9.8.1.30

T9.8.4.19.1.1

T9.3.6.11.8

T9.8.3.7.11.8

T9.3.9.22.13.1.1

T9.9.4.1.1

T9.8.4.30.1.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00039940

http://www.phoc.org.cn/pmo/class/PMO_00036767

http://www.phoc.org.cn/pmo/class/PMO_00036720

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13481 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0017042 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017042 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0017042 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017042 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D013796 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0014649 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Thanatophoric_Dysplasia CSEO LOOM
http://www.orpha.net/ORDO/Orphanet_2655 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.585.984 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_13481 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13481 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13481 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13481 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13481 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13481 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_13481 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13481 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13481 FNS-H LOOM
rgo:12523 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/29352008 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906098984908357 IOBC LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Thanatophoric_Dysplasia PEDTERM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.585.984 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013796 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.890 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10089187 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0039743 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A27 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017.500 RH-MESH LOOM
http://www.radlex.org/RID/RID46049 RADLEX LOOM
http://nanbyodata.jp/ontology/NANDO_1200874 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C85187 BERO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13481 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_547 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12151 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85187 NCIT LOOM
http://id.nlm.nih.gov/mesh/D013796 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500.500 RH-MESH LOOM