Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Baa32a46a0816b16b40914ea20cf37a06> ?p ?o ?g. }
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- Baa32a46a0816b16b40914ea20cf37a06 hasDbXref "Orphanet:93398" @default.
- Baa32a46a0816b16b40914ea20cf37a06 type Axiom @default.
- Baa32a46a0816b16b40914ea20cf37a06 annotatedProperty IAO_0000115 @default.
- Baa32a46a0816b16b40914ea20cf37a06 annotatedSource MONDO_0019680 @default.
- Baa32a46a0816b16b40914ea20cf37a06 annotatedTarget "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." @default.