| Metadata | |
|---|---|
| ID | DOID:14793 |
| Name | hypohidrotic ectodermal dysplasia |
| Definition | An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468, http://www.ncbi.nlm.nih.gov/books/NBK1112/, http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:239007005 |
| Alternateids |
DOID:0050446 DOID:0050447 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a ectodermal dysplasia |