Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion> ?p ?o ?g. }
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- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion type Assertion NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_head.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion evidence source_evidence_literature NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion SIO_000772 12913070 NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion wasDerivedFrom befree-20140225 NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion wasGeneratedBy ECO_0000203 NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.