FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Charcot-Marie-Tooth disease type 2 ID (Ontology) DOID:0050539 (Human Disease)
Definition A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
Also Known As "hereditary motor and sensory neuropathy Guadalajara neuronal type" ; "hereditary motor and sensory neuropathy Okinawa type" ; "hereditary motor and sensory neuropathy type 2"
Comment
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      16
Human Disease Models (FBhh)  DOID       3
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Charcot-Marie-Tooth disease type 2      21     12      3
 ameliorates | Charcot-Marie-Tooth disease type 2       3       --       --
 exacerbates | Charcot-Marie-Tooth disease type 2       5       --       --
 model of | Charcot-Marie-Tooth disease type 2      15       --       --
 DOES NOT ameliorate | Charcot-Marie-Tooth disease type 2       2       --       --
 DOES NOT exacerbate | Charcot-Marie-Tooth disease type 2       1       --       --
Spanning Tree (Parents/Children)
Only view relationship:
  neuromuscular disease
   |__Charcot-Marie-Tooth disease
       |__Charcot-Marie-Tooth disease type 2  121 rec.
           |__Charcot-Marie-Tooth disease axonal type 2C 3 rec.
           |__Charcot-Marie-Tooth disease axonal type 2CC
           |__Charcot-Marie-Tooth disease axonal type 2F 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2H
           |__Charcot-Marie-Tooth disease axonal type 2JJ 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2K 3 rec.
           |__Charcot-Marie-Tooth disease axonal type 2L 8 rec.
           |__Charcot-Marie-Tooth disease axonal type 2N 2 rec.
           |__Charcot-Marie-Tooth disease axonal type 2O 2 rec.
           |__Charcot-Marie-Tooth disease axonal type 2P
           |__Charcot-Marie-Tooth disease axonal type 2Q 2 rec.
           |__Charcot-Marie-Tooth disease axonal type 2S 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2T 15 rec.
           |__Charcot-Marie-Tooth disease axonal type 2U 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2V 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2X 1 rec.
           |__Charcot-Marie-Tooth disease axonal type 2Z
           |__Charcot-Marie-Tooth disease type 2A1 1 rec.
           |__Charcot-Marie-Tooth disease type 2A2A 6 rec.
           |__Charcot-Marie-Tooth disease type 2A2B 3 rec.
           |__Charcot-Marie-Tooth disease type 2B 2 rec.
           |__Charcot-Marie-Tooth disease type 2B1 2 rec.
           |__Charcot-Marie-Tooth disease type 2B2 1 rec.
           |__Charcot-Marie-Tooth disease type 2D 20 rec.
           |__Charcot-Marie-Tooth disease type 2DD 9 rec.
           |__Charcot-Marie-Tooth disease type 2E
           |__Charcot-Marie-Tooth disease type 2EE 4 rec.
           |__Charcot-Marie-Tooth disease type 2I
           |__Charcot-Marie-Tooth disease type 2J
           |__Charcot-Marie-Tooth disease type 2R 2 rec.
           |__Charcot-Marie-Tooth disease type 2Y 1 rec.
           |__Charcot-Marie-Tooth disease, axonal type 2W 1 rec.
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Synonyms
  • "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT
    "hereditary motor and sensory neuropathy Okinawa type" EXACT
    "hereditary motor and sensory neuropathy type 2" EXACT
Secondary IDs
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GARD:12431
ICD9CM:356.0
MIM:118230
MIM:604484
ORDO:64746
SNOMEDCT_US_2023_03_01:193158000
UMLS_CUI:C0392553