Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

CLAPO syndrome

Synonyms
Definitions

A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.

ID

http://www.orpha.net/ORDO/Orphanet_168984

definition

A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984

has_age_of_onset

Infancy

Neonatal

has_inheritance

Unknown

hasDbXref

OMIM:613089

MeSH:C567763

ICD-10:Q87.3

ICD-11:LD2C

UMLS:C2751313

label

CLAPO syndrome

notation

ORPHA:168984

part_of

http://www.orpha.net/ORDO/Orphanet_530313

http://www.orpha.net/ORDO/Orphanet_211277

prefixIRI

ORDO:Orphanet_168984

prefLabel

CLAPO syndrome

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 6.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_530313

http://www.orpha.net/ORDO/Orphanet_211277

subClassOf

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

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

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