autosomal recessive demyelinating Charcot-Marie-Tooth disease
GPTKB entity
Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:muscular_dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:associatedWith |
gptkb:PRX
gptkb:MPZ gptkb:LMNA gptkb:FIG4 gptkb:LITAF gptkb:MTMR13 gptkb:MTMR2 gptkb:NEFL gptkb:SBF1 gptkb:SBF2 gptkb:SH3TC2 gptkb:EGR2 gptkb:GDAP1 gptkb:GJB1 gptkb:MFN2 gptkb:PMP22 FMPD2 HINT1 |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
214400
601097 601596 607678 605253 |
| gptkbp:onset |
childhood
adolescence |
| gptkbp:pathology |
demyelination
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:bfsParent |
gptkb:CMT4
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive demyelinating Charcot-Marie-Tooth disease
|