JSON

PHACE syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011676

PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. [ Orphanet:42775 ]

Synonyms: pascual-Castroviejo syndrome type 2

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:8338 (MONDO:GARD)
  • Orphanet:42775 (OMIM:606519)
  • NORD:1927 (MONDO:NORD)
  • OMIM:606519 (Orphanet:42775/e)
  • MedDRA:10068032 (Orphanet:42775/e)
  • MEDGEN:376231 (MONDO:equivalentTo)
  • UMLS:C1847874 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10068032

exactMatch

http://www.orpha.net/ORDO/Orphanet_42775

http://linkedlifedata.com/resource/umls/id/C1847874

https://omim.org/entry/606519

http://identifiers.org/medgen/376231

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020182

http://purl.obolibrary.org/obo/MONDO_0018718

http://purl.obolibrary.org/obo/MONDO_0018729

http://purl.obolibrary.org/obo/MONDO_0018792

http://purl.obolibrary.org/obo/MONDO_0015145

has related synonym

P-CIIS

pascual-Castroviejo type II syndrome

PHACE association

Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities

aortic aneurysm, giant congenital

Phaces association

id

MONDO:0011676