| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures."xsd:string |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/898 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/38 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/154780 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002386 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004476 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D009216 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D019465 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0265235 |
| http://purl.uniprot.org/diseases/1939 | http://www.w3.org/2004/02/skos/core#prefLabel | "Marshall syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1939 | http://purl.uniprot.org/core/mnemonic | "MRSHS"xsd:string |
| http://purl.uniprot.org/uniprot/P12107#SIP6A505F540DF55E9C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1939 |
| http://purl.uniprot.org/uniprot/#_6C4AD59EA3AB78FC_up.disease_ECC6F3747E8C15CB | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1939 |