loading...| Preferred Name |
hypohidrotic ectodermal dysplasia |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A monogenic disease 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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| ID |
http://purl.obolibrary.org/obo/DOID_14793 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| definition |
A monogenic disease 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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| hasAlternativeId |
DOID:0050446 DOID:0050447 |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:4826006 OMIM:300291 MESH:D053358 UMLS_CUI:C0162359 OMIM:305100 OMIM:224900 SNOMEDCT_US_2016_03_01:239007005 NCI:C84562 OMIM:129490 SNOMEDCT_US_2016_03_01:7731005 |
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| hasExactSynonym |
Christ-Siemens-Touraine Syndrome anhidrotic ectodermal dysplasia 3 Ectodermal Dysplasia 1, Anhydrotic Hypohidrotic X-linked ectodermal dysplasia (disorder) |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:14793 |
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| imported from | ||
| inSubset | ||
| label |
hypohidrotic ectodermal dysplasia |
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| prefixIRI |
DOID:14793 |
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| prefLabel |
hypohidrotic ectodermal dysplasia |
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| subClassOf |
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