I am not sure it should normalize to MONDO:0018097 (West Syndrome) but instead be West Syndrome -> has_phenotype -> HP:0011097
I see it here, just not sure I understand this one.
{
"curie": "MONDO:0018097",
"label": "West syndrome",
"highlighting": {},
"synonyms": [
"West",
"IESS",
"syndrome west",
"West syndrome",
"West Syndrome",
"west syndrome",
"Salaam attack",
"nodding spasm",
"flexion spasm",
"Syndrome, West",
"salaam attacks",
"Salaam seizure",
"Salaam attacks",
"hypsarrhythmia",
"Salaam Attacks",
"attack; salaam",
"Attacks, Salaam",
"Epileptic spasm",
"Infantile Spasm",
"jackknife spasm",
"infantile spasm",
"Salaam Seizures",
"spasm infantile",
"west's syndrome",
"salaam seizures",
"West's syndrome",
"greeting spasms",
"Salaam seizures",
"spasm; lightning",
"spasm; infantile",
"infantile salaam",
"Lightning Attack",
"Epileptic spasms",
"Infantile Spasms",
"Seizures, Salaam",
"lightning; spasm",
"infantile; spasm",
"eclampsia nutans",
"Infantile spasms",
"Lightning spasms",
"infantile spasms",
"Lightning Attacks",
"Spasms, Infantile",
"Salaam convulsion",
"Attack, Lightning",
"salaam; attack(s)",
"Salaam convulsions",
"salaam convulsions",
"Attacks, Lightning",
"West syndrome (WS)",
"Seizure;infant spasms",
"Krampfe salaam attacks",
"Hypsarrhythmia syndrome",
"West syndrome (disorder)",
"infantile spasms syndrome",
"Blitz-Nick-salaam attacks",
"X-linked infantile spasms",
"Infantile spasms syndrome",
"West syndrome (diagnosis)",
"Epileptic spasms (finding)",
"infantile spasms (diagnosis)",
"Infantile myoclonic epilepsy",
"Infant spasms - hypsarrythmia",
"Infantile spasms - hypsarrythmia",
"X-linked infantile spasm syndrome",
"infantile epileptic encephalopathy",
"infantile epileptic spasms syndrome",
"infantile spasms with mental retardation",
"intellectual disability-hypsarrhythmia syndrome",
"infantile spasms-hypsarrhythmia-mental retardation syndrome",
"tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG"
],
"taxa": [],
"types": [
"biolink:Disease",
"biolink:DiseaseOrPhenotypicFeature",
"biolink:BiologicalEntity",
"biolink:ThingWithTaxon",
"biolink:NamedThing",
"biolink:Entity"
],
"score": 322.29745,
"clique_identifier_count": 17
},
HP:0011097 is https://www.ebi.ac.uk/ols4/ontologies/epio/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0011097
I see that it has Related Synonyms: West syndrome
and the description also states:
I am not sure it should normalize to MONDO:0018097 (West Syndrome) but instead be West Syndrome -> has_phenotype -> HP:0011097
I see it here, just not sure I understand this one.
@cbizon @gaurav