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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:FLOTCH syndrome
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Accession:EFO:MONDO:0016083 term browser browse the term
Definition:FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
Synonyms:exact_synonym: leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
 related_synonym: familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity
 alt_id: MONDO:0016083
 xref: GARD:2346;   MEDGEN:419074;   MESH:C537065;   ORDO:2045;   UMLS:C2931411
 see_also: https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome" xsd:anyURI {source="GARD:0002346


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            subcutaneous tissue disorder 0
              FLOTCH syndrome 0
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