Search Ontology:
Human Disease

Charcot-Marie-tooth disease axonal type 2HH

Term ID
DOID:0070837
Synonyms
  • CMT2HH
Definition
A Charcot-Marie-Tooth disease type 2 characterized by onset of vocal cord weakness resulting in stridor in infancy or early childhood that has_material_basis_in heterozygous mutation in the JAG1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/32065591/
References
Ontology
Human Disease   ( DOID:0070837 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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