|
congenital, lmna-related muscular dystrophy
|
C567708 |
|
|
glaucoma 1, open angle, o
|
C567753 |
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5
|
C567768 |
|
|
progressive external ophthalmoplegia, autosomal dominant, 5
|
C567768 |
|
|
severe congenital neutropenia-2
|
C567748 |
|
|
richieri-costa and pereira form of acrofacial dysostosis
|
C535677 |
|
|
richieri costa pereira syndrome
|
C535677 |
|
|
anemia, and progressive kidney failure early-onset hyperuricemia
|
C567760 |
|
|
nijmegen breakage syndrome-like disorder
|
C567767 |
|
|
concentric retinitis pigmentosa
|
C567712 |
|
|
infantile, with sensorineural deafness bartter syndrome
|
C567762 |
|
|
neuropathy, hereditary sensory, type IIA
|
C567738 |
|
|
disorder of sex development, 46,xy, cbx2-related
|
C567766 |
|
|
xy, cbx2-related sex reversal
|
C567766 |
|
