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Metadata
ID DOID:0070456
Name hereditary spastic paraplegia 87
Definition A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.
https://pubmed.ncbi.nlm.nih.gov/35718349/
Xrefs

MIM:619966

SKOS

exactMatch MIM:619966

Synonyms

autosomal recessive spastic paraplegia 87 [EXACT]

SPG87 [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

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