|
lethal congenital contracture syndrome type 7
|
14569 |
|
|
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
|
14562 |
|
|
COQ4-related neonatal encephalomyopathy
|
14562 |
|
|
short-chain enoyl-CoA hydratase deficiency
|
14563 |
|
|
CPT1C autosomal dominant pure spastic paraplegia
|
14568 |
|
|
amelogenesis imperfecta caused by mutation in AMBN
|
14560 |
|
|
3-methylglutaconic aciduria caused by mutation in CLPB
|
14561 |
|
|
nephronophthisis (disease) caused by mutation in NPHP3
|
11456 |
|
|
CNTNAP1 lethal congenital contracture syndrome
|
14569 |
|
|
coenzyme Q10 deficiency, primary, 7
|
14562 |
|
|
coenzyme Q10 deficiency, primary, 7; COQ10D7
|
http://purl.obolibrary.org/obo/MONDO_0014562 |
|
|
coenzyme Q10 deficiency, primary, type 7
|
14562 |
|
|
cobblestone retinal degeneration
|
1456 |
|
|
paving stone degeneration of retina
|
1456 |
|
|
MARS Charcot-Marie-Tooth disease type 2
|
14566 |
|
