Bardet-Biedl syndrome 13
Bardet-Biedl syndrome that has material basis in compound heterozygous mutation in the MKS1 gene on chromosome 17q22
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Bardet-Biedl syndrome 13
Summary
Bardet-Biedl syndrome 13 is a rare disease[1].
Key Facts
- Bardet-Biedl syndrome 13's instance of is recorded as rare disease[2].
- Bardet-Biedl syndrome 13's instance of is recorded as class of disease[3].
- Bardet-Biedl syndrome 13's subclass of is recorded as Bardet-Biedl syndrome[4].
- Bardet-Biedl syndrome 13's MeSH descriptor ID is recorded as C567140[5].
- Bardet-Biedl syndrome 13's OMIM ID is recorded as 615990[6].
- Bardet-Biedl syndrome 13's Disease Ontology ID is recorded as DOID:0110135[7].
- Bardet-Biedl syndrome 13's health specialty is recorded as medical genetics[8].
- Bardet-Biedl syndrome 13's genetic association is recorded as MKS1[9].
- Bardet-Biedl syndrome 13's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110135[10].
- Bardet-Biedl syndrome 13's exact match is recorded as http://identifiers.org/doid/DOID:0110135[11].
- Bardet-Biedl syndrome 13's UMLS CUI is recorded as C2673873[12].
- Bardet-Biedl syndrome 13's ICD-10-CM is recorded as Q87.89[13].
- Bardet-Biedl syndrome 13's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Bardet-Biedl syndrome 13's Mondo ID is recorded as MONDO_0014441[15].
- Bardet-Biedl syndrome 13's UniProt disease ID is recorded as DI-03087[16].