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- Bc9699e5415880ff006aa259746a7e63c hasDbXref "Orphanet:75497" @default.
- Bc9699e5415880ff006aa259746a7e63c type Axiom @default.
- Bc9699e5415880ff006aa259746a7e63c annotatedProperty IAO_0000115 @default.
- Bc9699e5415880ff006aa259746a7e63c annotatedSource MONDO_0010586 @default.
- Bc9699e5415880ff006aa259746a7e63c 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.