FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

spondyloepiphyseal dysplasia congenita
Synonyms
Definitions

A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
ID

http://purl.obolibrary.org/obo/DOID_14789
definition

A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
imported from

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

spondyloepiphyseal dysplasia congenita
prefixIRI

DOID:14789
prefLabel

spondyloepiphyseal dysplasia congenita
subClassOf

http://purl.obolibrary.org/obo/DOID_0112280

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_14789 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14789 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14789 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14789 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14789 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008471 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14789 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14789 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14789 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14789 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14789 NIFSTD LOOM
http://www.orpha.net/ORDO/Orphanet_94068 ORDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10074799 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A21 SNMI LOOM
rgo:12521 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG46000 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535788 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12548 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Spondyloepiphyseal_dysplasia,_congenita RPO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008471 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_2201348 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/183900 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/278713008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/C535788 MESH LOOM
http://purl.bioontology.org/ontology/RCD/XE1MB RCD LOOM