cataract 33
cataract that has material basis in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12
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cataract 33
Summary
cataract 33 is a rare disease[1].
Key Facts
- cataract 33's instance of is recorded as rare disease[2].
- cataract 33's instance of is recorded as class of disease[3].
- cataract 33's subclass of is recorded as cataract[4].
- cataract 33's subclass of is recorded as autosomal recessive disease[5].
- cataract 33's subclass of is recorded as autosomal dominant disease[6].
- cataract 33's OMIM ID is recorded as 611391[7].
- cataract 33's Disease Ontology ID is recorded as DOID:0110264[8].
- cataract 33's Orphanet ID is recorded as 217046[9].
- cataract 33's Orphanet ID is recorded as 217052[10].
- cataract 33's health specialty is recorded as medical genetics[11].
- cataract 33's genetic association is recorded as BFSP1[12].
- cataract 33's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110264[13].
- cataract 33's exact match is recorded as http://identifiers.org/doid/DOID:0110264[14].
- cataract 33's UMLS CUI is recorded as C3808107[15].
- cataract 33's UMLS CUI is recorded as C1969644[16].
- cataract 33's ICD-10-CM is recorded as Q12.0[17].
- cataract 33's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- cataract 33's Mondo ID is recorded as MONDO_0012665[19].
- cataract 33's UniProt disease ID is recorded as DI-01235[20].