Seckel syndrome 2
Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11
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Seckel syndrome 2
Summary
Seckel syndrome 2 is a rare disease[1].
Key Facts
- Seckel syndrome 2's instance of is recorded as rare disease[2].
- Seckel syndrome 2's instance of is recorded as class of disease[3].
- Seckel syndrome 2's subclass of is recorded as Seckel syndrome[4].
- Seckel syndrome 2's MeSH descriptor ID is recorded as C537534[5].
- Seckel syndrome 2's OMIM ID is recorded as 606744[6].
- Seckel syndrome 2's Disease Ontology ID is recorded as DOID:0070013[7].
- Seckel syndrome 2's genetic association is recorded as RBBP8[8].
- Seckel syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070013[9].
- Seckel syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0070013[10].
- Seckel syndrome 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_808[11].
- Seckel syndrome 2's UMLS CUI is recorded as C1847572[12].
- Seckel syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Seckel syndrome 2's Mondo ID is recorded as MONDO_0011715[14].
- Seckel syndrome 2's UniProt disease ID is recorded as DI-03353[15].