Ichthyosis follicularis with alopecia and photophobia syndrome (original) (raw)

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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
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dbo:orpha 2273
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dbo:wikiPageWikiLink dbr:Ichthyosis dbr:Keratosis_follicularis_spinulosa_decalvans dbc:Genodermatoses dbr:KID_syndrome dbc:Rare_diseases dbc:Syndromes dbr:Cicatricial_alopecia dbr:Photophobia dbr:List_of_cutaneous_conditions dbr:X-linked_recessive
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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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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foaf:name IFAP syndrome (en)
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