ZFIN Human Disease: autosomal recessive distal hereditary motor neuronopathy 3

OBO ID: DOID:0111211

Term Name:	autosomal recessive distal hereditary motor neuronopathy 3		Search Ontology:
Synonyms:	autosomal recessive distal spinal muscular atrophy type 3 dHMN3 and dHMN4 distal hereditary motor neuropathy type 3 and type 4 distal spinal muscular atrophy type 3 dSMA3
Definition:	An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. https://www.ncbi.nlm.nih.gov/pubmed/15054395
References:	MESH:C564626 OMIM:607088 ORDO:139547 SNOMEDCT_US_2023_03_01:770430000 UMLS_CUI:C1846823
Ontology:	Human Disease ( DOID:0111211 )

Relationships

is a type of:	autosomal recessive distal hereditary motor neuronopathy autosomal recessive distal hereditary motor neuronopathy Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None