Closed lcdaugherty closed 3 years ago
looking at the classification:
To Do:
@ahamosh I want to confirm that these 2 records, OMIM:616779 and OMIM:600142, refer indeed to 2 different diseases, even though the same gene is affected. The corresponding Mondo terms are parent/child (see previous comment). Is it correct? Thank you!
Mondo term (ID and Label): MONDO:0010829 CARASIL syndrome http://purl.obolibrary.org/obo/MONDO_0010829 has exact synonym 'cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy'
Xref that should be fixed (ID and label): Currently this entry has ExactMatch DOID:13945 https://www.disease-ontology.org/term/DOID:13945/ Although the same causative gene HTRA1, this DOID represents the 'cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy'
OMIM PS series explains this group well: https://omim.org/phenotypicSeries/PS125310 Currently there seems to be some mix up between the HRTA1 subtypes that result from different MOI (AR/AD) and the descriptions for type1 (CADASIL1-NOTCH3-MOI AD) and type 2 (CADASIL2-HTRA1 MOI AD) and where these are placed with CARASIL syndrome (HTRA1- MOI-AR), so this might indicate some revision of terms under MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Other comments: Linked to #1486