|
cone-rod dystrophy caused by mutation in C8orf37
|
13786 |
|
|
Usher syndrome caused by mutation in HARS
|
13788 |
|
|
C8orf37 cone-rod dystrophy
|
13786 |
|
|
psychomotor retardation, epilepsy, and craniofacial dysmorphism
|
13787 |
|
|
psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED
|
http://purl.obolibrary.org/obo/MONDO_0013787 |
|
|
carbohydrate deficient glycoprotein syndrome type
|
13789 |
|
|
carbohydrate deficient glycoprotein syndrome type Ir
|
13789 |
|
|
ABCB6 microphthalmia, isolated, with coloboma
|
13783 |
|
|
cystic fibrosis, modifier of, 1
|
http://purl.obolibrary.org/obo/MONDO_0011378 |
|
|
cystic fibrosis, modifier of, 1; CFM1
|
http://purl.obolibrary.org/obo/MONDO_0011378 |
|
|
rigidity and multifocal seizure syndrome, lethal neonatal
|
13784 |
|
|
rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL
|
http://purl.obolibrary.org/obo/MONDO_0013784 |
|
|
malignant urachus neoplasm
|
1378 |
|
