| Metadata | |
|---|---|
| ID | DOID:0081077 |
| Name | ectodermal dysplasia and immune deficiency |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/34815879/, https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/, https://pubmed.ncbi.nlm.nih.gov/27477329/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Anhidrotic ectodermal dysplasia with immune deficiency [EXACT] Ectodermal dysplasia, hypohidrotic, with immune deficiency [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has phenotype some Abnormality of immune system physiology |