Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B417ff0416b7a42dbe4c0fb565ededa46> ?p ?o ?g. }
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- B417ff0416b7a42dbe4c0fb565ededa46 hasDbXref "Orphanet:71267" @default.
- B417ff0416b7a42dbe4c0fb565ededa46 type Axiom @default.
- B417ff0416b7a42dbe4c0fb565ededa46 annotatedProperty IAO_0000115 @default.
- B417ff0416b7a42dbe4c0fb565ededa46 annotatedSource MONDO_0019102 @default.
- B417ff0416b7a42dbe4c0fb565ededa46 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.