Disease association ontology term - MONDO:0009958 - adult Refsum disease

Term summary

ID

MONDO:0009958

Name

adult Refsum disease

Ontology or CV name

Disease association

Definition

A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

Parents

• excluded_subClassOf autosomal recessive congenital ichthyosis
• excluded_subClassOf obsolete autosomal ichthyosis syndrome with prominent neurologics signs (obsolete MONDO:0017272)
• excluded_subClassOf obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation (obsolete MONDO:0017753)
• excluded_subClassOf leukodystrophy
• excluded_subClassOf autosomal recessive metabolic cerebellar ataxia
• excluded_subClassOf hereditary peripheral neuropathy
• excluded_subClassOf obsolete cataract associated with a metabolic disease (obsolete MONDO:0020228)
• excluded_subClassOf obsolete metabolic disease with pigmentary retinitis (obsolete MONDO:0020281)
• is_a phytanoyl-CoA hydroxylase deficiency

Annotation