Seckel syndrome 5
Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21
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Seckel syndrome 5
Summary
Seckel syndrome 5 is a rare disease[1].
Key Facts
- Seckel syndrome 5's instance of is recorded as rare disease[2].
- Seckel syndrome 5's instance of is recorded as class of disease[3].
- Seckel syndrome 5's subclass of is recorded as Seckel syndrome[4].
- Seckel syndrome 5's OMIM ID is recorded as 613823[5].
- Seckel syndrome 5's Disease Ontology ID is recorded as DOID:0070012[6].
- Seckel syndrome 5's genetic association is recorded as CEP152[7].
- Seckel syndrome 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070012[8].
- Seckel syndrome 5's exact match is recorded as http://identifiers.org/doid/DOID:0070012[9].
- Seckel syndrome 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_808[10].
- Seckel syndrome 5's UMLS CUI is recorded as C3151187[11].
- Seckel syndrome 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Seckel syndrome 5's Mondo ID is recorded as MONDO_0013443[13].
- Seckel syndrome 5's UniProt disease ID is recorded as DI-03060[14].