PomBase home

Disease association ontology term - MONDO:0015780 - dyskeratosis congenita

Term summary

ID
MONDO:0015780
Name
dyskeratosis congenita
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0015780 - dyskeratosis congenita

References:

Genes:

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

References:

Genes:

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

References:

Genes:

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

References:

Genes:

MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3

References:

Genes:

MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

References:

Genes:

MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1

References:

Genes:

MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

References:

Genes:

MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

References:

Genes:

MONDO:0014600 - dyskeratosis congenita, autosomal recessive 6

References:

Genes:

MONDO:0031057 - dyskeratosis congenita, digenic

References:

Genes:

MONDO:0010584 - dyskeratosis congenita, X-linked

References:

Genes:

MONDO:0009990 - Revesz syndrome

References:

Genes: