BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

thanatophoric dysplasia
Synonyms
Definitions

An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. Xref MGI. OMIM mapping confirmed by DO. [LS].
ID

http://purl.obolibrary.org/obo/DOID_13481
comment

Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference

UMLS_CUI:C0039743

ICD10CM:Q77.1

OMIM:273680

OMIM:187601

OMIM:187600

MESH:D013796

SNOMEDCT_US_2020_03_01:29352008

GARD:85

NCI:C85187

ORDO:1860

ORDO:2655

ORDO:93274

ORDO:93275
has exact match

MESH:D013796
has_obo_namespace

disease_ontology
id

DOID:13481
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim
label

thanatophoric dysplasia
notation

DOID:13481
prefLabel

thanatophoric dysplasia
textual definition

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

http://purl.obolibrary.org/obo/DOID_2256
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13481 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_13481 FNS-H SAME_URI
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 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://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