| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity."xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/601675 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D054463 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0432267 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1866504 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1866505 |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#prefLabel | "Trichothiodystrophy 1, photosensitive"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://purl.uniprot.org/core/mnemonic | "TTD1"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "IBIDS syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosis, congenital, with trichothiodystrophy"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "PIBIDS syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "TTDP"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Tay syndrome"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Trichothiodystrophy photosensitive"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Trichothiodystrophy with congenital ichthyosis"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosiform erythroderma with hair abnormality and mental and growth retardation"xsd:string |
| http://purl.uniprot.org/diseases/1104 | http://www.w3.org/2004/02/skos/core#altLabel | "Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature"xsd:string |
| http://purl.uniprot.org/uniprot/P18074#SIPB8A273F42D4A57C7 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1104 |
| http://purl.uniprot.org/annotation/VAR_003622 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1104 |
| http://purl.uniprot.org/annotation/VAR_003623 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1104 |
| http://purl.uniprot.org/annotation/VAR_003624 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1104 |
| http://purl.uniprot.org/annotation/VAR_003626 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1104 |
| http://purl.uniprot.org/annotation/VAR_003629 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1104 |