Bardet-Biedl syndrome 16
Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43
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Bardet-Biedl syndrome 16
Summary
Bardet-Biedl syndrome 16 is a rare disease[1].
Key Facts
- Bardet-Biedl syndrome 16's instance of is recorded as rare disease[2].
- Bardet-Biedl syndrome 16's instance of is recorded as class of disease[3].
- Bardet-Biedl syndrome 16's subclass of is recorded as Bardet-Biedl syndrome[4].
- Bardet-Biedl syndrome 16's OMIM ID is recorded as 615993[5].
- Bardet-Biedl syndrome 16's Disease Ontology ID is recorded as DOID:0110138[6].
- Bardet-Biedl syndrome 16's health specialty is recorded as medical genetics[7].
- Bardet-Biedl syndrome 16's genetic association is recorded as SDCCAG8[8].
- Bardet-Biedl syndrome 16's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110138[9].
- Bardet-Biedl syndrome 16's exact match is recorded as http://identifiers.org/doid/DOID:0110138[10].
- Bardet-Biedl syndrome 16's UMLS CUI is recorded as C3889474[11].
- Bardet-Biedl syndrome 16's ICD-10-CM is recorded as Q87.89[12].
- Bardet-Biedl syndrome 16's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Bardet-Biedl syndrome 16's Mondo ID is recorded as MONDO_0014444[14].
- Bardet-Biedl syndrome 16's UniProt disease ID is recorded as DI-04258[15].