Medical Subject Headings

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

Greig cephalopolysyndactyly syndrome
Synonyms

Polysyndactyly with peculiar skull shape

Greig Cephalopolysyndactyly (Gcps) Syndrome

Cephalopolysyndactyly Syndrome

Greig syndrome
ID

http://purl.bioontology.org/ontology/MESH/C537300
altLabel

Polysyndactyly with peculiar skull shape

Greig Cephalopolysyndactyly (Gcps) Syndrome

Cephalopolysyndactyly Syndrome

Greig syndrome
cui

C0265306
HM

D000168
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D000168
MDA

20100825
MeSH Frequency

31
MMR

20160929
notation

C537300
prefLabel

Greig cephalopolysyndactyly syndrome
SC

3
Scope Statement

A congenital syndrome characterized by variable abnormalities of the limbs, head and face including an unusually prominent forehead (frontal bossing), HYPERTELORISM; MACROCEPHALY; CRANIOSYNOSTOSES; and SYNDACTYLY. Psychomotor development is usually normal. It is caused by mutations or chromosomal translocations invloving the GLI3 gene. OMIM: 175700
TERMUI

T841545

T742122

T742125

T742124

T841544
TH

OMIM (2013)

GHR (2014)

ORD (2010)
tui

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

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/OMIM/175700 OMIM 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/OMIM/165240 OMIM 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://purl.bioontology.org/ontology/OMIM/175700 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14761 NATPRO 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