Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B283cd7b217386257015679d680300c45> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- B283cd7b217386257015679d680300c45 hasDbXref "PMID:29878199" @default.
- B283cd7b217386257015679d680300c45 hasDbXref "https://orcid.org/0000-0001-9969-8610" @default.
- B283cd7b217386257015679d680300c45 type Axiom @default.
- B283cd7b217386257015679d680300c45 annotatedProperty IAO_0000115 @default.
- B283cd7b217386257015679d680300c45 annotatedSource MONDO_0100068 @default.
- B283cd7b217386257015679d680300c45 annotatedTarget "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." @default.