|
Accelerated phase chronic myeloid leukemia
|
21367 |
|
|
TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy
|
13677 |
|
|
chromosome 15q25 deletion syndrome
|
13672 |
|
|
multiple mitochondrial dysfunctions syndrome 2
|
13675 |
|
|
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
|
13675 |
|
|
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2
|
http://purl.obolibrary.org/obo/MONDO_0013675 |
|
|
multiple mitochondrial dysfunctions syndrome 2; MMDS2
|
http://purl.obolibrary.org/obo/MONDO_0013675 |
|
|
multiple mitochondrial dysfunctions syndrome type 2
|
13675 |
|
|
endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome
|
13678 |
|
|
autosomal dominant keratoconus with early-onset anterior polar cataracts
|
13678 |
|
|
mitochondrial Protein-associated neurodegeneration
|
13674 |
|
|
BOLA3 fatal multiple mitochondrial dysfunctions syndrome
|
13675 |
|
|
fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3
|
13675 |
|
|
complete hydatidiform mole caused by mutation in KHDC3L
|
13671 |
|
|
hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation
|
13673 |
|
