Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Thanatophoric Dysplasia
Synonyms
Definitions

A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.
ID

http://purl.obolibrary.org/obo/NCIT_C85187
code

C85187
Contributing_Source

Cellosaurus

NICHD
definition

A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147
label

Thanatophoric Dysplasia
Preferred_Name

Thanatophoric Dysplasia
prefixIRI

NCIT:C85187
prefLabel

Thanatophoric Dysplasia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0039743
subClassOf

http://purl.obolibrary.org/obo/NCIT_C53543
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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://www.phoc.org.cn/pmo/class/PMO_00036786 PMAPP-PMO 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://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