loading...| Preferred Name |
Neonatal Adrenoleukodystrophy |
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| Synonyms |
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| Definitions |
A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C99251 |
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| code |
C99251 |
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| Contributing_Source |
Cellosaurus NICHD |
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| definition |
A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Neonatal Adrenoleukodystrophy |
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| Preferred_Name |
Neonatal Adrenoleukodystrophy |
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| prefixIRI |
NCIT:C99251 |
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| prefLabel |
Neonatal Adrenoleukodystrophy |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0282525 |
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| subClassOf |