loading...| Preferred Name |
hypohidrotic ectodermal dysplasia |
|
| Synonyms |
Hypohidrotic X-linked ectodermal dysplasia |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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). |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14793 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:300291 MESH:D053358 UMLS_CUI:C0162359 OMIM:224900 SNOMEDCT_US_2020_03_01:239007005 OMIM:305100 ORDO:238468 OMIM:129490 GARD:76 NCI:C84562 |
|
| has exact synonym |
Hypohidrotic X-linked ectodermal dysplasia Christ-Siemens-Touraine Syndrome anhidrotic ectodermal dysplasia 3 Ectodermal Dysplasia 1, Anhydrotic |
|
| has_alternative_id |
DOID:0050446 DOID:0050447 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14793 |
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| imported from | ||
| in_subset | ||
| label |
hypohidrotic ectodermal dysplasia |
|
| notation |
DOID:14793 |
|
| prefLabel |
hypohidrotic ectodermal dysplasia |
|
| textual 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). |
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| subClassOf |
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