MONDO:0010829 CARASIL syndrome incorrect ExactMatch DOID:13945. Possible subclass relationship revision needed MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

[lcdaugherty]

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

[sabrinatoro]

looking at the classification:

• parent term = MONDO:0007432 = DOID:13945 = OMIMPS:125310 (no DO annotation in the Mondo record --> to be added)
  • type1 (Notch3) = MONDO:0000914 = DOID:0111035 = OMIM:125310 → ok
  • type2 (HTRA) = MONDO:0014768 = DOID:0111036 = OMIM:616779 → ok
    • CARASIL syndrome = subtype of HTRA = OMIM:600142 - MONDO:0010829 (not in DO --> xref to be removed from MONDO:0010829)

To Do:

• [ ] add DOID:13945 as MONDO:equivalentTo for MONDO:0007432
• [ ] DOID:13945 should not be MONDO:equivalentTo for MONDO:0010829
• [ ] Need to communicate with OMIM to check whether OMIM:616779 and OMIM:600142 are should remain 2 different records, or should be merged

[sabrinatoro]

@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!