csbjohnson
commented
10 months ago Addressed in Ticket #1148
Closed csbjohnson closed 10 months ago
csbjohnson
commented
10 months ago Addressed in Ticket #1148
Review of existing DO entries based on NHGRI resource curation:
22q11.2 Deletion syndrome (DiGeorge syndrome and Velocardiofacial syndrome): DOID:0060413. List 2 parent terms: Microdeletion Syndromes and human malformformation syndrome. List DiGeorge syndrome and Velocardiofacial syndrome as a synonym of 22q11.2 Deletion syndrome / https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome
-4p deletion syndrome (Wolf-Hirschhorn syndrome): DOID:0050460. List 2 parent terms: Microdeletion Syndromes and human malformation syndrome. In the other deletion diseases the deletion name is considered the name of the disease ex 22q11.2 syndrome, 1p36 deletion syndrome, etc. and the full disease name is listed as a synonym. In this case is the opposite- "Wolf-Hirschhorn syndrome" is listed as the disease name and "4p deletion syndrome" as a synonym. The disease is very findable and accessible but if we want consistency we may want to look into listing "4p deletion syndrome" as the main name of the disease and Wolf-Hirschhorn" syndrome as the synonym.
5p deletion syndrome: DOID:12580. List 2 parent terms: Microdeletion Syndromes and human malformation syndrome. Same case as above, disease listed as "Cri-Du-Chat syndrome" and 5p deletion syndrome is the synonym.
Williams syndrome: DOID:1928. List 2 parent terms: Microdeletion Syndromes and human malformation syndrome. Review name- DO listed as "Williams-Beuren syndrome"/ https://research.nhgri.nih.gov/atlas/condition/williams-syndrome
Canavan Disease: DOID:3613. List 2 parent terms: Single gene disorder and human malformation syndrome. Add definition, there isn't a definition in the DO https://research.nhgri.nih.gov/atlas/condition/
Ehlers-Danlos (Type 4): DOID:13359. List 2 parent terms: Single gene disorder and human malformation syndrome.Add type 4 to DO/ https://research.nhgri.nih.gov/atlas/condition/)
FGFR-related craniosynostosis syndromes:DOID:2340. List 2 parent terms: Single gene disorder and human malformation syndrome. Add: DO doesn't have "syndrome" listed
Greig Cephalopolysyndactyly: DOID:14761. List 2 parent terms: Single gene disorder and human malformation syndrome. What does alternate ID mean in the DO? DOID:9251 listed and it shows the same description- duplicate intentional?
Marfan syndrome: DOID:14323. List 2 parent terms: Single gene disorder and human malformation syndrome. Add: List as "syndrome" in parent relation.
Multiple exostoses syndrome: DOID:206. List 2 parent terms: Single gene disorder and human malformation syndrome. review: "hereditary" preceding disease name in DO
Oculocutaneous albanism:: DOID:0050632. List 2 parent terms: Single gene disorder and human malformation syndrome. In DO spelled "albinism" instead of "albanism"
Smith-Magenis syndrome:: DOID:0060768 Single Gene Disorders. List 2 parent terms: Single gene disorder and human malformation syndrome. Add: List as "syndrome" in parent relation
Xeroderma pigmentosum: DOID:0050427. List 2 parent terms: Single gene disorder and human malformation syndrome. Observation: has "syndrome" in it' parent relationship- Shouldn't syndrome be part of the name disease name according to it?
Sickle cell disease: DOID:10923. List 2 parent terms: Single gene disorder and human malformation syndrome. Add as a synonym of sickle cell anemia/ https://www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease