| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract."xsd:string |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617877 |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D001848 |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN807949 |
| http://purl.uniprot.org/diseases/5196 | http://www.w3.org/2004/02/skos/core#prefLabel | "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"xsd:string |
| http://purl.uniprot.org/diseases/5196 | http://purl.uniprot.org/core/mnemonic | "SSFSC1"xsd:string |
| http://purl.uniprot.org/uniprot/P12643#SIP79DC6E2D968BDCB4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5196 |
| http://purl.uniprot.org/annotation/VAR_080742 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5196 |
| http://purl.uniprot.org/annotation/VAR_080743 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5196 |
| http://purl.uniprot.org/annotation/VAR_080744 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5196 |
| http://purl.uniprot.org/uniprot/#_9145AE56A3F5D2FE_up.disease_F5470AD45F378C8F | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5196 |