Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd4bcfa0737859b58d1b4ae0e17524d4c> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bd4bcfa0737859b58d1b4ae0e17524d4c hasDbXref "Orphanet:1590" @default.
- Bd4bcfa0737859b58d1b4ae0e17524d4c type Axiom @default.
- Bd4bcfa0737859b58d1b4ae0e17524d4c annotatedProperty IAO_0000115 @default.
- Bd4bcfa0737859b58d1b4ae0e17524d4c annotatedSource MONDO_0011248 @default.
- Bd4bcfa0737859b58d1b4ae0e17524d4c annotatedTarget "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." @default.