|
autosomal dominant 39, with dentinogenesis imperfecta 1 deafness
|
C565316 |
|
|
spastic paraplegia 45, autosomal recessive
|
13165 |
|
|
spastic paraplegia 45, autosomal recessive; SPG45
|
http://purl.obolibrary.org/obo/MONDO_0013165 |
|
|
WHO grade II ependymal tumor
|
http://purl.obolibrary.org/obo/MONDO_0003161 |
|
|
mucopolysaccharidosis type II, attenuated form
|
16316 |
|
|
mucopolysaccharidosis type IIB
|
16316 |
|
|
gamma aminobutyric acid transaminase deficiency
|
13166 |
|
|
gamma-amino butyric acid transaminase deficiency
|
13166 |
|
|
nephronophthisis-like nephropathy 1; NPHPL1
|
http://purl.obolibrary.org/obo/MONDO_0013163 |
|
|
cardiomyopathy, dilated, 1DD
|
13168 |
|
|
dilated cardiomyopathy 1DD
|
13168 |
|
|
cardiomyopathy, dilated, 1DD; CMD1DD
|
http://purl.obolibrary.org/obo/MONDO_0013168 |
|
