http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_head http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_provenance http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://identifiers.org/ncbigene/51360 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1839988 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNf5376306bf047f1afd5ff7c2b9a80b46 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51360 http://rdf.disgenet.org/resource/gda/DGNf5376306bf047f1afd5ff7c2b9a80b46 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1839988 http://rdf.disgenet.org/resource/gda/DGNf5376306bf047f1afd5ff7c2b9a80b46 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_provenance http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://purl.org/dc/terms/description [Mutations in MBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or without BRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X-linked form of Olmsted syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24313295 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/dc/terms/created 2015-08-25T14:46:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP905227.RA66OOsaH0NPiSjdtStIHIL89d3oN6qbxenBFhqFDeEco http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0