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- B0b1762dba0e6cc372d049f3565dd34ec hasDbXref "Orphanet:476096" @default.
- B0b1762dba0e6cc372d049f3565dd34ec type Axiom @default.
- B0b1762dba0e6cc372d049f3565dd34ec annotatedProperty IAO_0000115 @default.
- B0b1762dba0e6cc372d049f3565dd34ec annotatedSource MONDO_0018774 @default.
- B0b1762dba0e6cc372d049f3565dd34ec annotatedTarget "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." @default.