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- B1e3271a7c52b94ad13a3c36fda2ee7f1 hasDbXref "Orphanet:71267" @default.
- B1e3271a7c52b94ad13a3c36fda2ee7f1 type Axiom @default.
- B1e3271a7c52b94ad13a3c36fda2ee7f1 annotatedProperty IAO_0000115 @default.
- B1e3271a7c52b94ad13a3c36fda2ee7f1 annotatedSource MONDO_0019102 @default.
- B1e3271a7c52b94ad13a3c36fda2ee7f1 annotatedTarget "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." @default.