Neonatal adrenoleukodystrophy
medical condition
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Summary
Neonatal adrenoleukodystrophy is a rare disease[1]. It draws 56 Wikipedia views per month (rare disease category, ranking #236 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: peroxisomal disease[4], Zellweger spectrum disorder[5], eye degenerative disease[6]
- NCI Thesaurus ID: C99251[7]
- Genetic association: PEX11B[8], PEX16[9], PEX6[10], PEX26[11], PEX13[12], PEX10[13], PEX1[14], PEX2[15], PEX12[16], PEX14[17], PEX3[18], PEX19[19], PEX5[20]
- Age of onset: childhood onset[21], infantile onset[22], neonatal onset[23]
- Exact match: http://www.orpha.net/ORDO/Orphanet_44[24]
- Has phenotype: dolichocephaly[25], sensorineural hearing loss[26], anteverted nares[27], strabismus[28], pathologic nystagmus[29], optic atrophy[30], seizure[31], hypotonia[32], abnormal reflex[33], abnormal liver storage[34], electroencephalography abnormalities[35], developmental regression[36], short stature[37], Addison's disease[38]
- P14914: D00044[39]
Why It Matters
Neonatal adrenoleukodystrophy is known by 4 alternative names across languages and contexts.[40]