|
HSMN - hereditary sensory and motor neuropathy
|
http://purl.obolibrary.org/obo/MONDO_0002316 |
|
|
neutropenia and hyperlymphocytosis with large granular lymphocytes
|
C531649 |
|
|
hearing loss, high frequency
|
D006316 |
|
|
hearing loss, high-frequency
|
D006316 |
|
|
osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
|
11316 |
|
|
cauda equina intradural extramedullary astrocytoma
|
3163 |
|
|
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
|
20316 |
|
|
RBM20 familial isolated dilated cardiomyopathy
|
13168 |
|
|
acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
|
20316 |
|
|
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
|
13161 |
|
|
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
|
13162 |
|
|
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1
|
13161 |
|
