|
muscular dystrophy-dystroglycanopathy (Congenital with Brain and eye anomalies) type A, 4
|
http://purl.obolibrary.org/obo/MONDO_0009678 |
|
|
Williams-Beuren syndrome (WBS)
|
8678 |
|
|
muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4
|
9678 |
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
9678 |
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4
|
http://purl.obolibrary.org/obo/MONDO_0009678 |
|
|
spastic quadriplegic, 1 cerebral palsy
|
C567853 |
|
|
ebv-associated, autosomal, 1 lymphoproliferative syndrome
|
C567815 |
|
|
paroxysmal familial, 1 ventricular fibrillation
|
C567851 |
|
|
parkinson disease 14, autosomal recessive
|
C567844 |
|
|
paternal monosomy 14q32.2
|
16780 |
|
|
maternal monosomy 14q32.2
|
16781 |
|
