Phytanic Acid Storage Disease
| Disease Aliases (8) | Adult refsum disease Classic refsum disease Hmsn 4 Hmsn iv Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type iv Heredopathia atactica polyneuritiformis Phytanic-coa hydroxylase deficiency |
Associated Genes (2) NCBI-RefSeq: PHYH (Phytanoyl-CoA 2-hydroxylase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: PEX7 (Peroxisomal biogenesis factor 7) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Phytanic acid storage disease | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |