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Disease Ontology Browser
distal spinal muscular atrophy 1 (DOID:0111064)
Alliance: disease page
Synonyms: autosomal recessive distal spinal muscular atrophy 1; autosomal recessive spinal muscular atrophy with respiratory distress; dHMN6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuropathy type 6; distal-HMN type 6; DSMA1; severe infantile axonal neuropathy with respiratory failure type 1; SIANRF; SMARD1; spinal muscular atrophy with respiratory distress type 1
Alt IDs: OMIM:604320, ICD10CM:G12.2, ORDO:98920
Definition: A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
The Jackson Laboratory