Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion> ?p ?o ?g. }
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- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion type Assertion NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_head.
- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion description "[Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_provenance.
- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion evidence source_evidence_literature NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_provenance.
- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion SIO_000772 17257873 NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_provenance.
- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion wasDerivedFrom befree-20140225 NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_provenance.
- NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_assertion wasGeneratedBy ECO_0000203 NP397054.RA2p46jrEYYB-7utra_xwAHN3KHRX2astc_N1ufbmmMhY130_provenance.