| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q14914201 (ATIC) | ATIC |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P279 | subclass of | ... | Q18557955 (hereditary retinal dystrophy) | hereditary retinal dystrophy |
| P279 | subclass of | ... | Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) | multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
| P279 | subclass of | ... | Q55785399 (developmental anomaly of metabolic origin) | developmental anomaly of metabolic origin |
| P279 | subclass of | ... | Q55785813 (syndromic neurometabolic disease with non-X-linked intellectual disability) | syndromic neurometabolic disease with non-X-linked intellectual disability |
| P279 | subclass of | ... | Q55788557 (inborn disorder of purine metabolism) | inborn disorder of purine metabolism |
| P279 | subclass of | ... | Q55789238 (genetic macular dystrophy) | genetic macular dystrophy |
| P4229 | ICD-10-CM | E79.8 |
| P665 | KEGG ID | H00966 |
| P486 | MeSH descriptor ID | C563876 |
| P5270 | Mondo ID | MONDO_0012099 |
| P492 | OMIM ID | 608688 |
| P492 | OMIM ID | 608688 |
| P1550 | Orphanet ID | 250977 |
| P2892 | UMLS CUI | C1837530 |
| P11430 | UniProt disease ID | DI-00065 |
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