Visualize Submit Comment
Metadata
ID DOID:0070458
Name hereditary spastic paraplegia 89
Definition A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13.
https://pubmed.ncbi.nlm.nih.gov/37119330/
Xrefs

MIM:620379

SKOS

exactMatch MIM:620379

Synonyms

autosomal recessive spastic paraplegia 89 [EXACT]

SPG89 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some (Infantile onset or Childhood onset)

has material basis in some autosomal recessive inheritance

Add an item to the term tracker