Ectodermal Dysplasia And Immune Deficiency
Disease ID: disease_node_18089
Connections displayed (default: 10).
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| Dbxref | GARD:9936, MIM:PS300291 |
|---|---|
| Subclassof | DOID_612, DOID_2121 |
| Data Source | DOID |
| Synonyms | Anhidrotic ectodermal dysplasia with immune deficiency, Ectodermal dysplasia, hypohidrotic, with immune deficiency |
| Doid Label | ectodermal dysplasia and immune deficiency |
| Doid 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. |
| Has Phenotype | HP_0010978 |
| Disease Node Id | disease_node_18089 |
| Doid Id | DOID_0081077 |
| Label | Ectodermal Dysplasia And Immune Deficiency |
- Incoming r'ship
SUBCLASS_OFto/from Ectodermal Dysplasia And Immunodeficiency 1(ID:disease_node_18091) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ectodermal Dysplasia And Immunodeficiency 2(ID:disease_node_18090) (Disease)