FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Greig cephalopolysyndactyly syndrome
Synonyms
Definitions

An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
ID

http://purl.obolibrary.org/obo/DOID_14761
definition

An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
imported from

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

Greig cephalopolysyndactyly syndrome
prefixIRI

DOID:14761
prefLabel

Greig cephalopolysyndactyly syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_12960

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_14761 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14761 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14761 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14761 NIFSTD SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_2011 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_14761 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14761 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14761 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14761 NIFSTD LOOM
http://identifiers.org/omim/175700 REXO LOOM
http://identifiers.org/omim/175700 GEXO LOOM
http://identifiers.org/omim/175700 RETO LOOM
http://www.orpha.net/ORDO/Orphanet_380 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ33500 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/32985001 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_175700 CCO LOOM
http://purl.bioontology.org/ontology/OMIM/175700 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14761 NATPRO LOOM
rgo:06202 GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/C537300 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D03 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0008287 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008287 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008287 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_9251 CLO LOOM
http://purl.org/skeletome/bonedysplasia#Greig_Cephalopolysyndactyly_Syndrome BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537300 RH-MESH LOOM