Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bccd1b37c25d88da64c066404e3ee2f8f> ?p ?o ?g. }
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- Bccd1b37c25d88da64c066404e3ee2f8f hasDbXref "Orphanet:3309" @default.
- Bccd1b37c25d88da64c066404e3ee2f8f type Axiom @default.
- Bccd1b37c25d88da64c066404e3ee2f8f annotatedProperty IAO_0000115 @default.
- Bccd1b37c25d88da64c066404e3ee2f8f annotatedSource MONDO_0018028 @default.
- Bccd1b37c25d88da64c066404e3ee2f8f annotatedTarget "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." @default.