Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1> ?p ?o ?g. }
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- Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1 hasDbXref "Orphanet:79149" @default.
- Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1 type Axiom @default.
- Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1 annotatedProperty IAO_0000115 @default.
- Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1 annotatedSource MONDO_0009094 @default.
- Bb851c1e9b8e1bdaf2d20c6c5cb49d3b1 annotatedTarget "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." @default.