| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2000/01/rdf-schema#comment | "A neurodevelopmental disorder characterized by hypotonia, abnormal gait, developmental delay, intellectual disability especially affecting expressive language, and autistic behavior. Additional features include facial dysmorphism,ocular anomalies, and gastrointestinal issues. Rare patients have seizures. Disease severity is variable. Males tend to be more severely affected than females."xsd:string |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/301094 |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D065886 |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN323006 |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2004/02/skos/core#prefLabel | "Hijazi-Reis syndrome"xsd:string |
| http://purl.uniprot.org/diseases/6575 | http://purl.uniprot.org/core/mnemonic | "HIJRS"xsd:string |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2004/02/skos/core#altLabel | "NEDGFAX"xsd:string |
| http://purl.uniprot.org/diseases/6575 | http://www.w3.org/2004/02/skos/core#altLabel | "Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked"xsd:string |
| http://purl.uniprot.org/uniprot/Q15170#SIPAB3C0F80CD41602D | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6575 |
| http://purl.uniprot.org/annotation/VAR_087930 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6575 |
| http://purl.uniprot.org/annotation/VAR_087931 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6575 |
| http://purl.uniprot.org/annotation/VAR_087932 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6575 |
| http://purl.uniprot.org/annotation/VAR_087933 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6575 |
| http://purl.uniprot.org/uniprot/#_14AF7BBEA2118B68_up.disease_B4471A320A9358CF | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6575 |