Bardet-Biedl syndrome 14
Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21
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Bardet-Biedl syndrome 14
Summary
Bardet-Biedl syndrome 14 is a rare disease[1].
Key Facts
- Bardet-Biedl syndrome 14's instance of is recorded as rare disease[2].
- Bardet-Biedl syndrome 14's instance of is recorded as class of disease[3].
- Bardet-Biedl syndrome 14's subclass of is recorded as Bardet-Biedl syndrome[4].
- Bardet-Biedl syndrome 14's MeSH descriptor ID is recorded as C567141[5].
- Bardet-Biedl syndrome 14's OMIM ID is recorded as 615991[6].
- Bardet-Biedl syndrome 14's Disease Ontology ID is recorded as DOID:0110136[7].
- Bardet-Biedl syndrome 14's health specialty is recorded as medical genetics[8].
- Bardet-Biedl syndrome 14's genetic association is recorded as TMEM67[9].
- Bardet-Biedl syndrome 14's genetic association is recorded as CEP290[10].
- Bardet-Biedl syndrome 14's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110136[11].
- Bardet-Biedl syndrome 14's exact match is recorded as http://identifiers.org/doid/DOID:0110136[12].
- Bardet-Biedl syndrome 14's UMLS CUI is recorded as C2673874[13].
- Bardet-Biedl syndrome 14's ICD-10-CM is recorded as Q87.89[14].
- Bardet-Biedl syndrome 14's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Bardet-Biedl syndrome 14's Mondo ID is recorded as MONDO_0014442[16].
- Bardet-Biedl syndrome 14's UniProt disease ID is recorded as DI-02607[17].