loading...| Preferred Name |
ectodermal dysplasia and immunodeficiency 1 |
| Definitions |
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. |
| ID |
http://purl.obolibrary.org/obo/DOID_0081078 |
| database_cross_reference |
ORDO:69088 OMIM:300291 |
| definition |
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0081078 |
| in_subset | |
| label |
ectodermal dysplasia and immunodeficiency 1 |
| notation |
DOID:0081078 |
| prefLabel |
ectodermal dysplasia and immunodeficiency 1 |
| subClassOf |