Seckel syndrome 4
Seckel syndrome that has material basis in homozygous mutation in the CENPJ gene on chromosome 13q12
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Seckel syndrome 4
Summary
Seckel syndrome 4 is a rare disease[1].
Key Facts
- Seckel syndrome 4's instance of is recorded as rare disease[2].
- Seckel syndrome 4's instance of is recorded as class of disease[3].
- Seckel syndrome 4's subclass of is recorded as Seckel syndrome[4].
- Seckel syndrome 4's OMIM ID is recorded as 613676[5].
- Seckel syndrome 4's Disease Ontology ID is recorded as DOID:0070010[6].
- Seckel syndrome 4's genetic association is recorded as CENPJ[7].
- Seckel syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070010[8].
- Seckel syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0070010[9].
- Seckel syndrome 4's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_808[10].
- Seckel syndrome 4's UMLS CUI is recorded as C1826553[11].
- Seckel syndrome 4's UMLS CUI is recorded as C3888212[12].
- Seckel syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Seckel syndrome 4's Mondo ID is recorded as MONDO_0013358[14].
- Seckel syndrome 4's UniProt disease ID is recorded as DI-02948[15].