Neuropathy, congenital hypomyelinating

Disease Term Disease ID Gene Symbol Classification References Source
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
C4721436605253
CNTNAP1 Unknown — Disgenet
EGR2 Unknown — Disgenet HPO
MPZ Unknown — Disgenet
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
618184C4722277MONDO:0020765
MPZ Causal
8816708 12953275 15184631 26310628
ClinVar Disgenet GWAS catalog HPO
RHO Causal — Disgenet
CHN2 Unknown — Disgenet
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
618186C4748608MONDO:0020766
CNTNAP1 Causal — ClinVar Disgenet HPO