Subject | Predicate | Object | Context |
---|---|---|---|
umls-concept:C1840528 | rdf:type | umls-semnetwork:T047 | lld:umls |
umls-concept:C1840528 | rdf:type | skos:Concept | lld:umls |
umls-concept:C1840528 | calbc:hasCorrelation | calbc-group:DISO | lld:calbc |
umls-concept:C1840528 | calbc:hasCorrelation | calbc-group:GENE | lld:calbc |
umls-concept:C1840528 | skos:definition | NCI: A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. | lld:umls |
umls-concept:C1840528 | skos:inScheme | lld:umls | lld:umls |
umls-concept:C1840528 | skos-xl:prefLabel | umls-label:A16776280 | lld:umls |
umls-concept:C1840528 | skos-xl:altLabel | umls-label:A11979628 | lld:umls |
umls-concept:C1840528 | skos-xl:altLabel | umls-label:A11977423 | lld:umls |
umls-concept:C1840528 | skos-xl:altLabel | umls-label:A16762183 | lld:umls |
umls-concept:C1840528 | skos-xl:altLabel | umls-label:A16759966 | lld:umls |
http://linkedlifedata.com/r... | umls:relatedConcept | umls-concept:C1840528 | lld:umls |