| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase."xsd:string |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1215 |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/912 |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613151 |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D009136 |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3150412 |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2004/02/skos/core#prefLabel | "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"xsd:string |
| http://purl.uniprot.org/diseases/2961 | http://purl.uniprot.org/core/mnemonic | "MDDGB3"xsd:string |
| http://purl.uniprot.org/diseases/2961 | http://www.w3.org/2004/02/skos/core#altLabel | "Muscular dystrophy congenital POMGNT1-related"xsd:string |
| http://purl.uniprot.org/uniprot/Q8WZA1#SIPB8ACB845BCB5FB9A | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2961 |
| http://purl.uniprot.org/annotation/VAR_023104 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2961 |
| http://purl.uniprot.org/annotation/VAR_023107 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2961 |
| http://purl.uniprot.org/annotation/VAR_065026 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2961 |
| http://purl.uniprot.org/uniprot/#_55511D18B7B78120_up.disease_32A7BD5BC8AABB94 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2961 |