WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081077 ectodermal dysplasia and immune deficiency Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
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:2914 immune system disease A disease of anatomical entity that is located_in the immune system.
DOID:612 primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:0081077 ectodermal dysplasia and immune deficiency An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:2121 DOID:0081077
is_a DOID:612 DOID:0081077
is_a DOID:4 DOID:0081077
is_a DOID:225 DOID:0081077
is_a DOID:2914 DOID:0081077
is_a DOID:7 DOID:0081077
is_a DOID:0081077 DOID:0081078
is_a DOID:0081077 DOID:0081079

2 Synonyms

Name Type
Anhidrotic ectodermal dysplasia with immune deficiency synonym
Ectodermal dysplasia, hypohidrotic, with immune deficiency synonym