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- Ba9b30e6a39ba40b5476b2b2c5fd5e1c4 hasDbXref "https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome" @default.
- Ba9b30e6a39ba40b5476b2b2c5fd5e1c4 type Axiom @default.
- Ba9b30e6a39ba40b5476b2b2c5fd5e1c4 annotatedProperty IAO_0000115 @default.
- Ba9b30e6a39ba40b5476b2b2c5fd5e1c4 annotatedSource MONDO_0007624 @default.
- Ba9b30e6a39ba40b5476b2b2c5fd5e1c4 annotatedTarget "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." @default.