| http://purl.uniprot.org/diseases/792 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease."xsd:string |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/451 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1215 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/912 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/253280 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D058494 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0457133 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3151519 |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2004/02/skos/core#prefLabel | "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"xsd:string |
| http://purl.uniprot.org/diseases/792 | http://purl.uniprot.org/core/mnemonic | "MDDGA3"xsd:string |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2004/02/skos/core#altLabel | "Muscle-eye-brain disease POMGNT1-related"xsd:string |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2004/02/skos/core#altLabel | "Walker-Warburg syndrome POMGNT1-related"xsd:string |
| http://purl.uniprot.org/diseases/792 | http://www.w3.org/2004/02/skos/core#altLabel | "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"xsd:string |
| http://purl.uniprot.org/uniprot/Q8WZA1#SIP22B9369CA36496E5 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023101 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023102 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023103 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023104 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023105 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023106 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023107 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023108 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_023109 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |
| http://purl.uniprot.org/annotation/VAR_065021 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/792 |