familial cancers (from OMIM or NCIT) should conform to the susceptibility pattern

[nicolevasilevsky]

Updated action items:

Before taking further action on this, we should get in touch with Sharon Plon and her team to inform her of these potential changes. Note to self - see email: Re: NCI Thesaurus and relevant spreadsheet need to add obsoletion candidate tags to these terms:

• [ ] MONDO:0011789 familial meningioma
• [ ] MONDO:0023113 familial colorectal cancer
• [ ] MONDO:0024462 cutaneous melanoma susceptibility
• [ ] MONDO:0016248 familial ovarian cancer
• [ ] MONDO_0003582 'hereditary breast ovarian cancer syndrome'

updated 2021-10-22 NV

• [ ] This is related to a ticket from Val. Find that ticket and link it here.

see: https://github.com/monarch-initiative/mondo/discussions/2672 pattern: https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/inherited_susceptibility.yaml

Updated 10 March 2012 These terms should be obsoleted and new IDs should be created.

• [x] DL query: 'neoplasm (disease)' and 'has modifier' some inherited Look at these children and classify them according to sucept. pattern

[nicolevasilevsky]

• [x] '14q32 duplication syndrome' - done https://github.com/monarch-initiative/mondo/pull/2802
• [ ] 'Lhermitte-Duclos disease' - add susceptibility equiv axiom
• [ ] 'OSLAM syndrome' - add 'disease has feature' some osteosarcoma ?
• [ ] 'Ollier disease' - exclude neoplasm (as it is redundant), exclude 'hereditary neoplastic syndrome'
• [ ] 'STAT3-related early-onset multisystem autoimmune disease' - need to exclude superclasses related to neoplasm.
• [ ] 'Waldenstrom macroglobulinemia'
• [ ] 'chromosome 5q deletion syndrome'
• [ ] 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome'
• [ ] 'familial hyperaldosteronism type II'
• [ ] 'familial isolated pituitary adenoma'
• [ ] 'familial nonmedullary thyroid carcinoma'
• [ ] 'familial ossifying fibroma'
• [ ] 'familial ovarian carcinoma'
• [ ] 'familial pancreatic carcinoma'
• [ ] 'familial parathyroid adenoma'
• [ ] 'familial primary hyperparathyroidism'
• [ ] 'familial prostate carcinoma'
• [ ] 'familial pterygium of the conjunctiva'
• [ ] 'familial thyroglossal duct cyst'
• [ ] 'gallbladder neoplasm'
• [ ] 'genetic vascular tumor'
• [ ] 'hereditary Wilms tumor'
• [ ] 'hereditary breast carcinoma'
• [ ] 'hereditary fallopian tube carcinoma'
• [ ] 'hereditary kidney oncocytoma'
• [ ] 'hereditary multiple osteochondromas'
• [ ] 'hereditary renal cell carcinoma'
• [ ] 'hereditary retinoblastoma'
• [ ] 'histiocytoma, Angiomatoid fibrous'
• [ ] 'hydatidiform mole'
• [ ] 'inherited acute myeloid leukemia'
• [ ] 'inherited cardiac tumor'
• [ ] 'inherited digestive tract tumor'
• [ ] 'inherited neuroendocrine tumor'
• [ ] 'inherited skin tumor'
• [ ] 'inherited soft tissue tumor'
• [ ] 'leukemia, acute lymphoblastic, susceptibility to, 3'
• [ ] 'multiple endocrine neoplasia type 2'
• [ ] 'nasal dermoid cyst'
• [ ] 'pancreatic lymphoma, familial'
• [ ] 'thrombocytopenia 6'
• [ ] 'thymoma, familial'

[nicolevasilevsky]

Need to update previous edits per conversation on discussion #2672 To do: obsolete these classes and create new classes with susceptibility label: Relabel terms to: '[disease] susceptibility' Add (or revise) logical definition to: 'inherited disease susceptibility' and ('predisposes towards' some %s)

• [ ] MONDO:0011789 familial meningioma
• [ ] MONDO:0023113 familial colorectal cancer
• [ ] MONDO:0024462 cutaneous melanoma susceptibility
• [ ] MONDO:0016248 familial ovarian cancer
• [ ] MONDO_0003582 'hereditary breast ovarian cancer syndrome'

[nicolevasilevsky]

@sabrinatoro reassigning this to you