| http://purl.uniprot.org/diseases/95 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2000/01/rdf-schema#comment | "An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids."xsd:string |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/609924 |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000592 |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1835922 |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2004/02/skos/core#prefLabel | "Aminoacylase-1 deficiency"xsd:string |
| http://purl.uniprot.org/diseases/95 | http://purl.uniprot.org/core/mnemonic | "ACY1D"xsd:string |
| http://purl.uniprot.org/diseases/95 | http://www.w3.org/2004/02/skos/core#altLabel | "Encephalopathy associated with aminoacylase 1 deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/Q03154#SIP608902D5686C6508 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_020452 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_026104 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_026105 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_043113 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_043114 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_065562 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/annotation/VAR_065563 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/95 |
| http://purl.uniprot.org/uniprot/#_48E4639C0D5A2798_up.disease_B77BF17BEA274C1B | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/95 |