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- Bf871892309d7c8a04b26a7952ba952ec hasDbXref "Orphanet:568" @default.
- Bf871892309d7c8a04b26a7952ba952ec type Axiom @default.
- Bf871892309d7c8a04b26a7952ba952ec annotatedProperty IAO_0000115 @default.
- Bf871892309d7c8a04b26a7952ba952ec annotatedSource MONDO_0018924 @default.
- Bf871892309d7c8a04b26a7952ba952ec annotatedTarget "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." @default.