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- B375e16063081d72d16498303fa362535 hasDbXref "Orphanet:3047" @default.
- B375e16063081d72d16498303fa362535 type Axiom @default.
- B375e16063081d72d16498303fa362535 annotatedProperty IAO_0000115 @default.
- B375e16063081d72d16498303fa362535 annotatedSource MONDO_0011365 @default.
- B375e16063081d72d16498303fa362535 annotatedTarget "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." @default.