New digenic diseases

[csbjohnson]

• CRANIOSYNOSTOSIS 7; CRS7 | OMIM: 617439
• USHER SYNDROME, TYPE IIC; USH2C | OMIM: 605472 / Add sybtype to DO.
• PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 | OMIM: 256040 /Why does (DOID:0090062) appear as a result when typing the disease? (not listed synonym) Is it the same? or interface error?
• METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC | OMIM: 277400 / Add "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA" ("MAHCC" as synonym) to DO as parent term. Add "cblC " subtype to DO.
• BOMBAY PHENOTYPE | OMIM: 616754
• PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3 | OMIM: 617591
• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | OMIM: 619477
• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | OMIM: 619478

[csbjohnson]

Created in local repo, need review before pushing for: -CRANIOSYNOSTOSIS 7; CRS7 | OMIM: 617439 -USHER SYNDROME, TYPE IIC; USH2C | OMIM: 605472 -PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 | OMIM: 256040

-METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC | OMIM: 277400 / Add "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA" ("MAHCC" as synonym) to DO as parent term. Add "cblC " subtype to DO. Also added all METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA subtyped under the new created parent term

-PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3 | OMIM: 617591 -FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | OMIM: 619477 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | OMIM: 619478

[csbjohnson]

Request to create an 'autoinflammatory disease' parent term for PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 AND 3

Created 'autoinflammatory disease' parent term

[csbjohnson]

Interface optimization suggestion:

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 | OMIM: 256040 /Why does (DOID:0090062) appear as a result when typing the disease? (not listed synonym) Is it the same? or interface error?

[csbjohnson]

BOMBAY PHENOTYPE | OMIM: 616754

Should it be added to the DO if it's a phenotype? no

[allenbaron]

Only diseases should be added to the DO. The inclusion of the word "phenotype" in the OMIM name doesn't necessarily mean it's not a disease.

In the case of "Bombay phenotype" specifically, it is a rare blood type and the OMIM entry uses wording that indicates it is like any other blood type and not a disease:

Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals

[csbjohnson]

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA remove parent term