|
lethal congenital contracture syndrome 7; LCCS7
|
http://purl.obolibrary.org/obo/MONDO_0014569 |
|
|
lethal congenital contracture syndrome caused by mutation in CNTNAP1
|
14569 |
|
|
chromosome 5q14.3 deletion syndrome
|
16456 |
|
|
lethal congenital contracture syndrome type 7
|
14569 |
|
|
cerebral creatine deficiency syndrome
|
456 |
|
|
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 |
|
|
CPT1C autosomal dominant pure spastic paraplegia
|
14568 |
|
|
cobblestone retinal degeneration
|
1456 |
|
|
paving stone degeneration of retina
|
1456 |
|
|
MARS Charcot-Marie-Tooth disease type 2
|
14566 |
|
|
lipoprotein deficiency disease, HDL, familial
|
D052456 |
|
|
alpha-Lipoprotein deficiency disease, familial
|
D052456 |
|
|
sinus node disease, familial, autosomal recessive
|
24562 |
|
