Disease

hereditary spastic paraplegia 50

Name: hereditary spastic paraplegia 50
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110802 hereditary spastic paraplegia 50 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. adaptor protein complex 4 deficiency AP-4-Associated Hereditary Spastic Paraplegia AP-4 deficiency syndrome autosomal recessive spastic paraplegia 50 SPG50

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.

Synonyms

adaptor protein complex 4 deficiency
AP-4 deficiency syndrome

Cross References

MIM:612936
ORDO:280763

Parent Terms

autosomal recessive disease
hereditary spastic paraplegia

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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