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- Bf0dd6efd2d71f3471b83a9b36cdeb2f0 hasDbXref "Orphanet:75497" @default.
- Bf0dd6efd2d71f3471b83a9b36cdeb2f0 type Axiom @default.
- Bf0dd6efd2d71f3471b83a9b36cdeb2f0 annotatedProperty IAO_0000115 @default.
- Bf0dd6efd2d71f3471b83a9b36cdeb2f0 annotatedSource MONDO_0010586 @default.
- Bf0dd6efd2d71f3471b83a9b36cdeb2f0 annotatedTarget "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." @default.