Leber congenital amaurosis 8
Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has material basis in mutation in the CRB1 gene on chromosome 1q31-q32
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Summary
Leber congenital amaurosis 8 is a rare disease[1]. It is known by 4 alternative names across languages and contexts.[2]
Key Facts
- Leber congenital amaurosis 8's instance of is recorded as rare disease[3].
- Leber congenital amaurosis 8's instance of is recorded as class of disease[4].
- Leber congenital amaurosis 8 is a type of Leber congenital amaurosis[5].
- Leber congenital amaurosis 8 is a type of genetic disease[6].
- Leber congenital amaurosis 8 is a type of autosomal recessive disease[7].
- Leber congenital amaurosis 8's genetic association is recorded as CRB1[8].
- Leber congenital amaurosis 8's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110079[9].
- Leber congenital amaurosis 8's exact match is recorded as http://identifiers.org/doid/DOID:0110079[10].
- Leber congenital amaurosis 8's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
Why It Matters
Leber congenital amaurosis 8 is known by 4 alternative names across languages and contexts.[2]