ectodermal dysplasia and immune deficiency
Information
- Disease name
- ectodermal dysplasia and immune deficiency
- Disease ID
- DOID:0081077
- 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." [url:https\://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/27477329/, url:https\://pubmed.ncbi.nlm.nih.gov/34815879/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:2121
- Cross Reference ID (Disease Ontology)
- GARD:9936
- Cross Reference ID (Disease Ontology)
- MIM:PS300291
- Exact Synonym (Disease Ontology)
- Anhidrotic ectodermal dysplasia with immune deficiency
- Exact Synonym (Disease Ontology)
- Ectodermal dysplasia, hypohidrotic, with immune deficiency