hereditary spastic paraplegia 55
gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
Press Enter · cited answer in seconds
0 sources
Summary
hereditary spastic paraplegia 55 is a developmental defect during embryogenesis[1]. It is known by 7 alternative names across languages and contexts.[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Subclass of: hereditary spastic paraplegia[5], autosomal recessive complex spastic paraplegia[6], rare genetic developmental defect during embryogenesis[7], combined oxidative phosphorylation deficiency[8], autosomal recessive disease[9]
- Health specialty: neurology[10]
- Genetic association: MTRFR[11]
- Exact match: http://purl.obolibrary.org/obo/DOID_0110807[12], http://identifiers.org/doid/DOID:0110807[13], http://www.orpha.net/ORDO/Orphanet_320375[14]
- On focus list of Wikimedia project: WikiProject Medicine[15]