autosomal recessive distal hereditary motor neuronopathy 1 Disease Ontology Browser

Disease Ontology Browser

autosomal recessive distal hereditary motor neuronopathy 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 spinal muscular atrophy 1; 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 (4)

Allelic Composition	Genetic Background	Reference	Phenotypes
Ighmbp2nmd-2J/Ighmbp2nmd-2J	B6.BKS-Ighmbp2^nmd-2J/J	J:92862	View
Ighmbp2em1Cll/Ighmbp2em1Cll	FVB/NJ-Ighmbp2^em1Cll	J:326540	View

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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