loading...| Preferred Name |
hypohidrotic ectodermal dysplasia |
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| Synonyms |
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| 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). |
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| ID |
http://purl.obolibrary.org/obo/DOID_14793 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
MESH:D053358 UMLS_CUI:C0162359 SNOMEDCT_US_2023_03_01:239007005 ORDO:238468 GARD:76 NCI:C84562 |
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| has_alternative_id |
DOID:0050446 DOID:0050447 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:14793 |
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| in_subset | ||
| label |
hypohidrotic ectodermal dysplasia |
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| notation |
DOID:14793 |
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| prefLabel |
hypohidrotic ectodermal dysplasia |
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| 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 |