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loading...| Preferred Name | Congenital Adrenal Hyperplasia | |
| Synonyms |
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| Definitions |
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34360 |
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| ALT_DEFINITION |
A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland. |
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| code |
C34360 |
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| Contributing_Source |
NICHD |
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| definition |
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Congenital Adrenal Hyperplasia |
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| Legacy Concept Name |
Congenital_Adrenal_Hyperplasia |
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| Preferred_Name |
Congenital Adrenal Hyperplasia |
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| prefixIRI |
NCIT:C34360 |
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| prefLabel |
Congenital Adrenal Hyperplasia |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0001627 |
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| subClassOf |
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