MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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expandcongenital anemia (MONDO:0000577)
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expandconjunctival tumor (MONDO:0020204)
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expandepidermal appendage tumor (MONDO:0002297)
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expandexcretory apparatus of the lacrimal system anomaly (MONDO:0020195)
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expandhematopoietic and lymphoid system neoplasm (MONDO:0002334)
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expandhereditary eye tumor (MONDO:0015966)
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expandhereditary neoplastic syndrome (MONDO:0015356)
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expandhereditary poikiloderma (MONDO:0016382)
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expandhyperpigmentation of the skin (MONDO:0019289)
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expandinherited aplastic anemia (MONDO:0001713)
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expandinherited skin tumor (MONDO:0015950)
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expandmalformation syndrome with hamartosis (MONDO:0020063)
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expandsyndrome with combined immunodeficiency (MONDO:0018035)
..Starting node
..expanddyskeratosis congenita ()

       Child Nodes:
........expandautosomal recessive dyskeratosis congenita 4 ()
........expanddyskeratosis congenita, autosomal dominant 1 ()
........expanddyskeratosis congenita, autosomal dominant 2 ()
........expanddyskeratosis congenita, autosomal dominant 3 ()
........expanddyskeratosis congenita, autosomal dominant 6 ()
........expanddyskeratosis congenita, autosomal recessive 1 ()
........expanddyskeratosis congenita, autosomal recessive 2 ()
........expanddyskeratosis congenita, autosomal recessive 3 ()
........expanddyskeratosis congenita, autosomal recessive 5 ()
........expanddyskeratosis congenita, autosomal recessive 6 ()
........expanddyskeratosis congenita, X-linked ()
........expandRevesz syndrome ()



 Sister Nodes: 
..expandabsent thumb-short stature-immunodeficiency syndrome ()
..expandanhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ()
..expandautoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis ()
..expandcombined immunodeficiency due to CRAC channel dysfunction ()
..expandcombined immunodeficiency with faciooculoskeletal anomalies ()
..expandDNA repair defect other than combined T-cell and B-cell immunodeficiencies ()
..expanddyskeratosis congenita ()
..expandfacial dysmorphism-immunodeficiency-livedo-short stature syndrome ()
..expandHennekam syndrome ()
..expandhepatic veno-occlusive disease-immunodeficiency syndrome ()
..expandhereditary folate malabsorption ()
..expandhyper-IgE syndrome ()
..expandhypohidrotic ectodermal dysplasia with immunodeficiency ()
..expandimmuno-osseous dysplasia ()
..expandimmunodeficiency due to absence of thymus ()
..expandLaron syndrome with immunodeficiency ()
..expandmultiple intestinal atresia ()
..expandpancytopenia due to IKZF1 mutations ()
..expandprimary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ()
..expandT-cell immunodeficiency, congenital alopecia, and nail dystrophy ()
..expandtranscobalamin II deficiency ()
..expandVici syndrome ()
..expandWiskott-Aldrich syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15780
Name:dyskeratosis congenita
Definition:Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
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Synonyms:DC; DKC; DKC; Hoyeraal-Hreidarsson syndrome; Zinsser Cole Engman syndrome; Zinsser-Engman-Cole syndrome; Zinsser-Engman-Cole syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal