PHACE association

cutaneous condition characterized by multiple congenital abnormalities. ("PHACES"=Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome)

Wikidata entity: Q3377927



P2176 drug or therapy used for treatment ... Q423364 (propranolol) propranolol
P2888 exact match Url Ontology Lookup Service (OLS) ???
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q55789477 (head and neck disease) head and neck disease
P31 instance of ... Q112193867 (class of disease) class of disease
P279 subclass of ... Q179630 (syndrome) syndrome
P279 subclass of ... Q748376 (phakomatosis) phakomatosis
P279 subclass of ... Q6934911 (multiple abnormalities) multiple abnormalities
P279 subclass of ... Q9303627 (brain cancer) brain cancer
P279 subclass of ... Q54945930 (central nervous system vascular malformation) central nervous system vascular malformation
P279 subclass of ... Q55785289 (multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome) multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
P279 subclass of ... Q55785518 (rare syndrome with cardiac malformations) rare syndrome with cardiac malformations
P279 subclass of ... Q55785835 (genetic skin vascular disorder) genetic skin vascular disorder
P279 subclass of ... Q55785842 (rare genetic epilepsy) rare genetic epilepsy
P279 subclass of ... Q55786833 (syndrome with a cerebellar malformation as major feature) syndrome with a cerebellar malformation as major feature
P279 subclass of ... Q55788277 (vascular tumor with associated anomalies) vascular tumor with associated anomalies
P279 subclass of ... Q55788290 (rare genetic vascular tumor) rare genetic vascular tumor
P279 subclass of ... Q55788342 (Moyamoya syndrome) Moyamoya syndrome
P279 subclass of ... Q55789185 (palpebral tumor with a vascular malformation) palpebral tumor with a vascular malformation

External Ids
P557DiseasesDB34139
P4317GARD rare disease ID8338
P4229ICD-10-CMQ28.8
P7807ICD-11 ID (Foundation)1825849023
P6366Microsoft Academic ID (discontinued)2780380139
P5270Mondo IDMONDO_0011676
P492OMIM ID606519
P492OMIM ID606519
P1550Orphanet ID42775
P4233PatientsLikeMe condition IDphace-syndrome
P2892UMLS CUIC1847874
P2892UMLS CUIC2242617
P2892UMLS CUIC3698479
P11143WikiProjectMed IDPHACE syndrome

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