Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Greig cephalopolysyndactyly syndrome
Synonyms

GCPS

Definitions

A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.

ID

http://www.orpha.net/ORDO/Orphanet_380

alternative_term

GCPS

definition

A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=380

has_age_of_onset

Antenatal

has_inheritance

Autosomal dominant

hasDbXref

MeSH:C537300

ICD-10:Q87.0

UMLS:C0265306

MedDRA:10053878

ICD-11:LD26.2

OMIM:175700

label

Greig cephalopolysyndactyly syndrome

notation

ORPHA:380

part_of

http://www.orpha.net/ORDO/Orphanet_363250

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

http://www.orpha.net/ORDO/Orphanet_294959

prefixIRI

ORDO:Orphanet_380

prefLabel

Greig cephalopolysyndactyly syndrome

present_in

Europe AND has_birth_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_363250

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

http://www.orpha.net/ORDO/Orphanet_294959

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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