|
chromosome 9Q21.11 Duplication syndrome
|
13305 |
|
|
spinocerebellar ataxia 10
|
11330 |
|
|
spinocerebellar ataxia 10; SCA10
|
http://purl.obolibrary.org/obo/MONDO_0011330 |
|
|
congenital estrogen deficiency
|
13301 |
|
|
nephronophthisis 11; NPHP11
|
http://purl.obolibrary.org/obo/MONDO_0013302 |
|
|
severe C12ORF65-related combined oxidative phosphorylation defect
|
13306 |
|
|
chromosome 2p12-p11.2 deletion syndrome
|
13309 |
|
|
myopathy, lactic acidosis, and sideroblastic Anemia type 2
|
13307 |
|
|
myopathy, lactic acidosis, and sideroblastic anemia 2
|
13307 |
|
|
myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2
|
http://purl.obolibrary.org/obo/MONDO_0013307 |
|
|
autosomal dominant deafness 51
|
13305 |
|
|
severe C12ORF65-related COXPD
|
13306 |
|
