Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
11367 |
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
11367 |
|
hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation
|
13673 |
|
mitochondrial membrane protein-associated neurodegeneration
|
13674 |
|
chronic congestive splenomegaly
|
1367 |
|
hydatidiform mole, recurrent, 2
|
13671 |
|
hydatidiform MOLE, recurrent, 2
|
13671 |
|
hydatidiform MOLE, recurrent, 2; HYDM2
|
http://purl.obolibrary.org/obo/MONDO_0013671 |
|
hydatidiform Mole, recurrent, type 2
|
13671 |
|
C19orf12 neurodegeneration with brain iron accumulation
|
13674 |
|
NBIA due to C19orf12 mutation
|
13674 |
|
keratoconus, familial, with early-onset anterior polar cataract
|
13678 |
|
familial keratoconus with cataract
|
13678 |
|
myopia, high, with cataract and vitreoretinal degeneration
|
13670 |
|
myopia, high, with cataract and vitreoretinal degeneration; MCVD
|
http://purl.obolibrary.org/obo/MONDO_0013670 |
|