Experimental Factor Ontology

Last uploaded: April 15, 2024
Preferred Name

CLAPO syndrome

Synonyms

Clapo

Lopez-Gutierrez syndrome

capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth

CLAPO syndrome, somatic

Definitions

CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).

ID

http://purl.obolibrary.org/obo/MONDO_0013125

database_cross_reference

MESH:C567763

Orphanet:168984

SCTID:717765001

GARD:17044

OMIM:613089

UMLS:C2751313

definition

CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).

exactMatch

https://omim.org/entry/613089

http://identifiers.org/mesh/C567763

http://identifiers.org/snomedct/717765001

http://linkedlifedata.com/resource/umls/id/C2751313

http://purl.obolibrary.org/obo/Orphanet_168984

has_exact_synonym

CLAPO syndrome, somatic

has_related_synonym

Clapo

Lopez-Gutierrez syndrome

capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0013125

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome

label

CLAPO syndrome

notation

MONDO:0013125

preferred label

CLAPO syndrome

prefLabel

CLAPO syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019716

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