Closed lschriml closed 2 years ago
DO has been updated, DICER1 syndrome added.
Synonyms to add:
Existing DOID | Name (and synonyms) |
---|---|
DOID:13636 | Fanconi anemia |
DOID:0050424 | Familial adenomatous polyposis|Familial adenomatous polyposis (FAP) |
DOID:5683 | hereditary breast ovarian cancer syndrome|Hereditary breast and ovarian cancer |
DOID:3883 | Hereditary non-polyposis colon cancer syndrome|Hereditary non-polyposis colorectal cancer syndrome|Hereditary nonpolyposis colon cancer syndrome|Hereditary nonpolyposis colorectal cancer syndrome|Hereditary non-polyposis colon cancer|Hereditary non-polyposis colorectal cancer|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal cancer|Lynch syndrome|Lynch syndrome (hereditary non-polyposis colorectal cancer) |
DOID:3012 | Li-Fraumeni syndrome |
DOID:0080411 | MUTYH-associated polyposis |
DOID:2512 | Nevoid basal cell carcinoma syndrome |
DOID:14175 | Von Hippel-Lindau disease |
DOID:0050427 | Xeroderma pigmentosum |
DOID:2717 | Bloom syndrome |
DOID:7400 | Nijmegen breakage syndrome |
DOID:5688 | Werner syndrome |
DICER1 syndrome|PPB familial tumor susceptibility syndrome|Pleuro-pulmonary blastoma familial tumor susceptibility syndrome|Pleuropulmonary blastoma familial tumor susceptibility syndrome | |
DOID:6457 | Cowden Syndrome |
DOID:3125 | Multiple endocrine neoplasia (MEN) syndrome|Multiple endocrine neoplasia syndrome |
DOID:5683 | Hereditary Breast and Ovarian Cancer (HBOC) syndrome|Hereditary Breast and Ovarian Cancer syndrome|Breast and Ovarian Cancer (HBOC) syndrome|Breast and Ovarian Cancer syndrome|HBOC syndrome |
DOID:3852 | Peutz-Jeghers syndrome |
DOID:2732 | Rothmund-Thomson syndrome |
"MUTYH-associated polyposis" belongs to DOID:0080410 (familial adenomatous polyposis 2), not DOID:0080411 (familial adenomatous polyposis 3).
Jake Lever, CIViC Mine, has requested the addition of DICER1 syndrome.
-- reviewing this term request and the DO, I see the DO has pleuropulmonary blastoma (DOID:4769). Several other sources combine pleuropulmonary blastoma with DICER 1. However, DICER 1 is a syndrome
--> adding DICER 1 syndrome as a child of syndrome
DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors.
https://medlineplus.gov/genetics/condition/dicer1-syndrome/#resources https://pubmed.ncbi.nlm.nih.gov/31409088/ https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/
(DOID:4769) [GARD:8757]. --> keep for pleuropulmonary blastoma ICDO:8973/3 [MESH:C537516] --> keep for pleuropulmonary blastoma
[NCI:C5669]--> keep for pleuropulmonary blastoma
[OMIM:601200] --> Move to DICER 1
add: ORDO:64742 to pleuropulmonary blastoma add: to DICER 1: synonym: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Autosomal dominant inheritence