http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_head http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_assertion http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_provenance http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_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/C3536714 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/DGNdf5bb46b5f717d11f4d1de2c8394e458 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51360 http://rdf.disgenet.org/resource/gda/DGNdf5bb46b5f717d11f4d1de2c8394e458 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3536714 http://rdf.disgenet.org/resource/gda/DGNdf5bb46b5f717d11f4d1de2c8394e458 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_provenance http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_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/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_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/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24313295 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_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/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/dc/terms/created 2015-08-25T14:46:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP905238.RAXqjV1RgnqUj36qC6KvJEre0m9QFO2KUXVFONKBeQY4w 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