FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked spinal muscular atrophy 2 ID (Ontology) DOID:0111827 (Human Disease)
Definition A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
Also Known As "infantile-onset X-linked spinal muscular atrophy" ; "SMAX2" ; "spinal muscular atrophy with arthrogryposis" (for all, see Synonyms field below)
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 Genes
 X-linked spinal muscular atrophy 2       1
 for disease ribbon | X-linked spinal muscular atrophy 2       1
 model of | X-linked spinal muscular atrophy 2       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
motor neuron disease            |
 |__spinal muscular atrophy_____|
                                X-linked spinal muscular atrophy 2  1 rec.
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Is a X-linked recessive disease
spinal muscular atrophy
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Synonyms
  • "infantile-onset X-linked spinal muscular atrophy" EXACT
    "SMAX2" EXACT OMO:0003012
    "spinal muscular atrophy with arthrogryposis" EXACT
    "X-linked distal arthrogryposis multiplex congenita" EXACT
    "X-linked spinal muscular atrophy type 2" EXACT
Secondary IDs
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GARD:8521
MESH:C535380
MIM:301830
ORDO:1145
SNOMEDCT_US_2023_03_01:719836007
UMLS_CUI:C1844934