Peroxisome Biogenesis Disorder 9b (PBD9B)

Alias:

Refsum Disease, Adult, 2

Pbd9b

Peroxisome Biogenesis Disorder, Complementation Group 11

Peroxisome Biogenesis Disorder Complementation Group 11

Peroxisome Biogenesis Disorder, Pex7-Related, Atypical

Peroxisome Biogenesis Disorder Complementation Group R

Atypical Peroxisome Biogenesis Disorder Pex7-Related

Peroxisome Biogenesis Disorder, Type 9b

Refsum Disease Adult 2

Pbd-Cg11

Pbd-Cgr

Cg11

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Peroxisome Biogenesis Disorder 9b, also known as refsum disease, adult, 2, is related to peroxisome biogenesis disorder 14b and rhizomelic chondrodysplasia punctata, type 1. An important gene associated with Peroxisome Biogenesis Disorder 9b is PEX7 (Peroxisomal Biogenesis Factor 7). Affiliated tissues include brain and heart, and related phenotypes are sensorineural hearing impairment and reduced visual acuity

Related ID：

MALACARDS：PRX050

OMIM：614879

MESH：D012035