Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B46a6a17517f201c71fbe0447e1a03ce6> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B46a6a17517f201c71fbe0447e1a03ce6 NCIT_P378 "NICHD" @default.
- B46a6a17517f201c71fbe0447e1a03ce6 type Axiom @default.
- B46a6a17517f201c71fbe0447e1a03ce6 annotatedProperty NCIT_P325 @default.
- B46a6a17517f201c71fbe0447e1a03ce6 annotatedSource NCIT_C3273 @default.
- B46a6a17517f201c71fbe0447e1a03ce6 annotatedTarget "An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess." @default.