| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions."xsd:string |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/38 |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614974 |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004476 |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3554246 |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN162978 |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2004/02/skos/core#prefLabel | "Focal facial dermal dysplasia 4"xsd:string |
| http://purl.uniprot.org/diseases/3636 | http://purl.uniprot.org/core/mnemonic | "FFDD4"xsd:string |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2004/02/skos/core#altLabel | "Focal facial dermal dysplasia type IV"xsd:string |
| http://purl.uniprot.org/diseases/3636 | http://www.w3.org/2004/02/skos/core#altLabel | "FFDD type IV"xsd:string |
| http://purl.uniprot.org/uniprot/Q6V0L0#SIP88DA4202C73E1DB4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3636 |
| http://purl.uniprot.org/uniprot/#_755F6D1F2161D482_up.disease_D2DA626D45247430 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3636 |