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- Bd2ecbb182e2729c40431a30b4737cc9b hasDbXref "Orphanet:2077" @default.
- Bd2ecbb182e2729c40431a30b4737cc9b type Axiom @default.
- Bd2ecbb182e2729c40431a30b4737cc9b annotatedProperty IAO_0000115 @default.
- Bd2ecbb182e2729c40431a30b4737cc9b annotatedSource MONDO_0009272 @default.
- Bd2ecbb182e2729c40431a30b4737cc9b annotatedTarget "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." @default.