Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0d38487834b833dd89fd11c8a21d1594> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B0d38487834b833dd89fd11c8a21d1594 hasDbXref "Orphanet:221043" @default.
- B0d38487834b833dd89fd11c8a21d1594 type Axiom @default.
- B0d38487834b833dd89fd11c8a21d1594 annotatedProperty IAO_0000115 @default.
- B0d38487834b833dd89fd11c8a21d1594 annotatedSource MONDO_0014310 @default.
- B0d38487834b833dd89fd11c8a21d1594 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.