http://purl.uniprot.org/diseases/425 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant."xsd:string |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/38 |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/612132 |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004476 |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2677481 |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ectodermal dysplasia and immunodeficiency 2"xsd:string |
http://purl.uniprot.org/diseases/425 | http://purl.uniprot.org/core/mnemonic | "EDAID2"xsd:string |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2004/02/skos/core#altLabel | "Ectodermal dysplasia hypohidrotic with immunodeficiency"xsd:string |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2004/02/skos/core#altLabel | "HED-ID"xsd:string |
http://purl.uniprot.org/diseases/425 | http://www.w3.org/2004/02/skos/core#altLabel | "Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant"xsd:string |
http://purl.uniprot.org/uniprot/P25963#SIP1B76D7BEDF5A2C58 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/425 |
http://purl.uniprot.org/annotation/VAR_034871 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/425 |
http://purl.uniprot.org/uniprot/#_8141D4CBA6B8DDB5_up.disease_4EB97DBC761FC6AD | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/425 |