class of disease | Q112193867 |
phthisis bulbi | Q906264 |
eye disease | Q3041498 |
autosomal recessive disease | Q10267817 |
P699 | Disease Ontology ID | DOID:0070356 |
P2888 | exact match | http://identifiers.org/doid/DOID:0070356 |
http://purl.obolibrary.org/obo/DOID_0070356 | ||
P5270 | Mondo ID | MONDO_0032655 |
P492 | OMIM ID | 618283 |
618283 | ||
P2892 | UMLS CUI | CL968192 |
P11430 | UniProt disease ID | DI-05463 |
P2293 | genetic association | MARK3 | Q18028880 |
Q56636922 | Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | main subject | P921 |
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