Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Synonyms

POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

GCPS
ID

http://purl.bioontology.org/ontology/OMIM/175700
altLabel

POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

GCPS
cui

C0265306
Gene Locus

7p13
Gene Symbol

GLI3

PAPA

PAPB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU007696

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU003365

http://purl.bioontology.org/ontology/OMIM/MTHU001221

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU016080

http://purl.bioontology.org/ontology/OMIM/MTHU016078

http://purl.bioontology.org/ontology/OMIM/MTHU005818

http://purl.bioontology.org/ontology/OMIM/MTHU006883

http://purl.bioontology.org/ontology/OMIM/MTHU036885

http://purl.bioontology.org/ontology/OMIM/MTHU067352

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU016079

http://purl.bioontology.org/ontology/OMIM/MTHU060455

http://purl.bioontology.org/ontology/OMIM/MTHU036382

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU037109

http://purl.bioontology.org/ontology/OMIM/MTHU007180

http://purl.bioontology.org/ontology/OMIM/MTHU002571

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU002221

http://purl.bioontology.org/ontology/OMIM/MTHU016081
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

175700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Scope Statement

Variable expressivity [MISCELLANEOUS]

Caused by mutation in the GLI-Kruppel family member GLI3 gene (GLI3, 165240.0001) [MOLECULAR BASIS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10053878 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32985001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C537300 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D03 SNMI CUI
http://purl.bioontology.org/ontology/CSP/0725-9662 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10053878 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053878 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/32985001 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_14761 DOID LOOM
rgo:06202 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0008287 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9251 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14761 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0008287 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2011 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_380 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_14761 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14761 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14761 FNS-H 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://www.owl-ontologies.com/NPOntology.owl#DOID_14761 NATPRO 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 DOVES LOOM
http://purl.org/skeletome/bonedysplasia#Greig_Cephalopolysyndactyly_Syndrome BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537300 RH-MESH LOOM