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- Beadf7729b37d5e2925bd995e9d338b38 hasDbXref "PMID:25420144" @default.
- Beadf7729b37d5e2925bd995e9d338b38 hasDbXref "PMID:25915598" @default.
- Beadf7729b37d5e2925bd995e9d338b38 hasDbXref "PMID:33811134" @default.
- Beadf7729b37d5e2925bd995e9d338b38 hasDbXref "https://clinicalgenome.org/affiliation/40006/" @default.
- Beadf7729b37d5e2925bd995e9d338b38 type Axiom @default.
- Beadf7729b37d5e2925bd995e9d338b38 annotatedProperty IAO_0000115 @default.
- Beadf7729b37d5e2925bd995e9d338b38 annotatedSource MONDO_0100485 @default.
- Beadf7729b37d5e2925bd995e9d338b38 annotatedTarget "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently." @default.