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http://purl.uniprot.org/keywords/953http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/953http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/38
http://purl.uniprot.org/keywords/953http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/953http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/953http://www.w3.org/2000/01/rdf-schema#comment"Protein which, if defective, causes lacrimo-auriculo-dento-digital syndrome. Lacrimo-auriculo-dento-digital syndrome, a form of ectodermal dysplasia, is an autosomal dominant multiple congenital anomaly. It is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed."xsd:string
http://purl.uniprot.org/keywords/953http://www.w3.org/2004/02/skos/core#prefLabel"Lacrimo-auriculo-dento-digital syndrome"xsd:string
http://purl.uniprot.org/keywords/953http://www.w3.org/2004/02/skos/core#altLabel"Lacrimoauriculodentodigital syndrome"xsd:string
http://purl.uniprot.org/keywords/953http://www.w3.org/2004/02/skos/core#altLabel"LADD syndrome"xsd:string
http://purl.uniprot.org/keywords/953http://www.w3.org/2004/02/skos/core#altLabel"Levy-Hollister syndrome"xsd:string
http://purl.uniprot.org/keywords/953http://purl.uniprot.org/core/categoryhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/diseases/6573http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/diseases/627http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/diseases/6572http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/uniprot/O15520http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/uniprot/P21802http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/uniprot/P22607http://purl.uniprot.org/core/classifiedWithhttp://purl.uniprot.org/keywords/953
http://purl.uniprot.org/keywords/38http://www.w3.org/2004/02/skos/core#narrowerhttp://purl.uniprot.org/keywords/953