dbo:abstract |
Das Dermotrichie-Syndrom (altgriechisch δέρμα dérma, deutsch ‚„Haut“‘ und τριχ- trich-, deutsch ‚„Haar“‘) ist eine sehr seltene angeborene Erkrankung mit den drei Leitsymptomen Ichthyose (Ichthyosis follicularis), Alopezie und Photophobie, daher auch das Akronym IFAP-Syndrom. Die Erstbeschreibung stammt aus dem Jahre 1909 durch J. M. H. McLeod. (de) IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 40 known cases (all male) until 2011. (en) |
dbo:icd10 |
Q80.3 |
dbo:omim |
308205 (xsd:integer) |
dbo:orpha |
2273 |
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dbp:caption |
Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner (en) |
dbp:icd |
(en) Q80.3 (en) |
dbp:name |
IFAP syndrome (en) |
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dbc:Genodermatoses dbc:Rare_diseases dbc:Syndromes |
rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease umbel-rc:AilmentCondition |
rdfs:comment |
Das Dermotrichie-Syndrom (altgriechisch δέρμα dérma, deutsch ‚„Haut“‘ und τριχ- trich-, deutsch ‚„Haar“‘) ist eine sehr seltene angeborene Erkrankung mit den drei Leitsymptomen Ichthyose (Ichthyosis follicularis), Alopezie und Photophobie, daher auch das Akronym IFAP-Syndrom. Die Erstbeschreibung stammt aus dem Jahre 1909 durch J. M. H. McLeod. (de) IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 40 known cases (all male) until 2011. (en) |
rdfs:label |
Dermotrichie-Syndrom (de) Ichthyosis follicularis with alopecia and photophobia syndrome (en) |
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IFAP syndrome (en) |
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wikipedia-en:Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome |