Wikidata entity: Q50349724
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q14907998 (DNMT1) | DNMT1 |
| P31 | instance of | ... | Q55789477 (head and neck disease) | head and neck disease |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q3702898 (hereditary sensory and autonomic neuropathy) | hereditary sensory and autonomic neuropathy |
| P279 | subclass of | ... | Q200779 (genetic disease) | genetic disease |
| P279 | subclass of | ... | Q18553439 (autosomal dominant disease) | autosomal dominant disease |
| P279 | subclass of | ... | Q19001236 (nervous system heredodegenerative disease) | nervous system heredodegenerative disease |
| P279 | subclass of | ... | Q55346116 (genetic neurodegenerative disease with dementia) | genetic neurodegenerative disease with dementia |
| P279 | subclass of | ... | Q55785399 (developmental anomaly of metabolic origin) | developmental anomaly of metabolic origin |
| P279 | subclass of | ... | Q55785804 (syndromic dyslipidemia) | syndromic dyslipidemia |
| P279 | subclass of | ... | Q55788734 (syndromic genetic deafness) | syndromic genetic deafness |
| P279 | subclass of | ... | Q55789148 (metabolic disease with dementia) | metabolic disease with dementia |
| P699 | Disease Ontology ID | DOID:0070158 |
| P4317 | GARD rare disease ID | 11927 |
| P4229 | ICD-10-CM | G60.8 |
| P5270 | Mondo ID | MONDO_0013584 |
| P492 | OMIM ID | 614116 |
| P492 | OMIM ID | 614116 |
| P1550 | Orphanet ID | 456318 |
| P2892 | UMLS CUI | C3279885 |
| P11430 | UniProt disease ID | DI-03189 |
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