| http://purl.uniprot.org/diseases/426 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails."xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/38 |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/225060 |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004476 |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2931488 |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN074253 |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ectodermal dysplasia, Margarita Island type"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://purl.uniprot.org/core/mnemonic | "EDMI"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "ED4"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Cleft lip/palate-ectodermal dysplasia syndrome"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "CLPED1"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Ectodermal dysplasia Margarita type"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Ectodermal dysplasia type 4"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Margarita Island ectodermal dysplasia"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Syndactyly-ectodermal dysplasia-cleft lip/palate"xsd:string |
| http://purl.uniprot.org/diseases/426 | http://www.w3.org/2004/02/skos/core#altLabel | "Zlotogora-Ogur syndrome"xsd:string |
| http://purl.uniprot.org/uniprot/Q15223#SIPE006A6EDC88BDDC6 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/426 |
| http://purl.uniprot.org/uniprot/#_BEB2781DA87AA099_up.disease_ED93E9AD3FF00987 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/426 |