WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

1 Ontology

Name
Disease Ontology

5 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:2121 ectodermal dysplasia A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080015 DOID:0111245
is_a DOID:2121 DOID:0111245
is_a DOID:225 DOID:0111245
is_a DOID:4 DOID:0111245

8 Synonyms

Name Type
autosomal recessive palmoplantar hyperkeratosis and congenital alopecia synonym
autosomal recessive palmoplantar keratoderma and congenital alopecia synonym
CASS synonym
cataract-alopecia-sclerodactyly syndrome synonym
palmoplantar keratoderma and congenital alopecia, Wallis type synonym
PPK-CA, Wallis type synonym
PPKCA Wallis type synonym
PPKCA2 synonym