Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B367fc371b826eb492f7440dff9b80d59> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B367fc371b826eb492f7440dff9b80d59 hasDbXref "Orphanet:221043" @default.
- B367fc371b826eb492f7440dff9b80d59 type Axiom @default.
- B367fc371b826eb492f7440dff9b80d59 annotatedProperty IAO_0000115 @default.
- B367fc371b826eb492f7440dff9b80d59 annotatedSource MONDO_0014310 @default.
- B367fc371b826eb492f7440dff9b80d59 annotatedTarget "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." @default.