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peroxisome biogenesis disorder type 3B

^ http://purl.obolibrary.org/obo/MONDO_0009959

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. [ NCIT:P378 ]

Term info

database cross reference
  • OMIM:266510 (MONDO:equivalentTo)
  • DOID:0050444 (MONDO:equivalentTo)
abbreviation
PBD3B [ OMIM:266510 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632

definition

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.

exactMatch

https://omim.org/entry/266510, http://purl.obolibrary.org/obo/DOID_0050444

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019234

has exact synonym

peroxisome biogenesis disorder type 3B, peroxisome biogenesis disorder 3B, infantile phytanic acid storage disease

has related synonym

PBD3B, infantile Refsum disease

id

MONDO:0009959