Bardet-Biedl syndrome 2
Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13
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Summary
Bardet-Biedl syndrome 2 is a rare disease[1].
Key Facts
- Bardet-Biedl syndrome 2's instance of is recorded as rare disease[2].
- Bardet-Biedl syndrome 2's instance of is recorded as class of disease[3].
- Bardet-Biedl syndrome 2's subclass of is recorded as Bardet-Biedl syndrome[4].
- Bardet-Biedl syndrome 2's MeSH descriptor ID is recorded as C537910[5].
- Bardet-Biedl syndrome 2's OMIM ID is recorded as 615981[6].
- Bardet-Biedl syndrome 2's Disease Ontology ID is recorded as DOID:0110124[7].
- Bardet-Biedl syndrome 2's health specialty is recorded as medical genetics[8].
- Bardet-Biedl syndrome 2's genetic association is recorded as BBS2[9].
- Bardet-Biedl syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110124[10].
- Bardet-Biedl syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0110124[11].
- Bardet-Biedl syndrome 2's UMLS CUI is recorded as C2936863[12].
- Bardet-Biedl syndrome 2's ICD-10-CM is recorded as Alexandria.89[13].
- Bardet-Biedl syndrome 2's GARD rare disease ID is recorded as 821[14].
- Bardet-Biedl syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Bardet-Biedl syndrome 2's Mondo ID is recorded as MONDO_0014432[16].
- Bardet-Biedl syndrome 2's UniProt disease ID is recorded as DI-00160[17].