|
nephronophthisis (disease) caused by mutation in NPHP3
|
11456 |
|
|
neutropenia, severe congenital, 6, autosomal recessive
|
14456 |
|
|
neutropenia, severe congenital, 6, autosomal recessive; SCN6
|
http://purl.obolibrary.org/obo/MONDO_0014456 |
|
|
X-linked, with cerebellar hypoplasia and distinctive facial appearance mental retardation
|
C537456 |
|
|
CNTNAP1 lethal congenital contracture syndrome
|
14569 |
|
|
2-Methyl-3-Hydroxybutyryl-CoA dehydrogenase deficiency
|
C564560 |
|
|
lethal congenital contracture syndrome 7
|
14569 |
|
|
lethal congenital contracture syndrome 7; LCCS7
|
http://purl.obolibrary.org/obo/MONDO_0014569 |
|
|
3-Hydroxy-2-Methylbutyryl-CoA dehydrogenase deficiency
|
C564560 |
|
|
type 2, deficiency 3-Hydroxyacyl-CoA dehydrogenase
|
C564560 |
|
|
lethal congenital contracture syndrome caused by mutation in CNTNAP1
|
14569 |
|
|
lethal congenital contracture syndrome type 7
|
14569 |
|
|
type 2, deficiency Hydroxyacyl-CoA dehydrogenase
|
C564560 |
|
|
familial alpha-Lipoprotein deficiency disease
|
D052456 |
|
