|
mental retardation, autosomal recessive 49
|
14567 |
|
|
mental retardation, autosomal recessive 49; MRT49
|
http://purl.obolibrary.org/obo/MONDO_0014567 |
|
|
mental retardation, autosomal recessive type 49
|
14567 |
|
|
autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
|
14566 |
|
|
Charcot-Marie-Tooth disease axonal type 2U
|
14566 |
|
|
Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U
|
14566 |
|
|
Charcot-Marie-Tooth disease, axonal, type 2U
|
14566 |
|
|
Charcot-Marie-Tooth disease, axonal, type 2U; CMT2U
|
http://purl.obolibrary.org/obo/MONDO_0014566 |
|
|
early-onset non-syndromic cataract caused by mutation in UNC45B
|
14565 |
|
|
ABCD3 congenital bile acid synthesis defect
|
14564 |
|
|
amelogenesis imperfecta caused by mutation in AMBN
|
14560 |
|
|
3-methylglutaconic aciduria caused by mutation in CLPB
|
14561 |
|
|
lethal congenital contracture syndrome 7
|
14569 |
|
|
nephronophthisis (disease) caused by mutation in NPHP3
|
11456 |
|
