|
x chromosome, duplication xq13 1 q21 1
|
C536753 |
|
|
type 4 ectodermal dysplasia
|
C536726 |
|
|
infantile epileptic encephalopathy 58
|
33367 |
|
|
retinal cone dystrophy 3b
|
C563678 |
|
|
EMERY-Dreifuss muscular dystrophy 7, autosomal dominant
|
13677 |
|
|
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
|
13677 |
|
|
EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7
|
http://purl.obolibrary.org/obo/MONDO_0013677 |
|
|
KCNV2-Related cone dystrophy with night blindness and supernormal rod responses
|
C563678 |
|
|
epileptic encephalopathy, early infantile, 58
|
33367 |
|
|
epileptic encephalopathy, early infantile, 58; EIEE58
|
http://purl.obolibrary.org/obo/MONDO_0033367 |
|
|
TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy
|
13677 |
|
|
cyclic, with epidermolytic hyperkeratosis ichthyosis
|
C564367 |
|
|
brachial amelia, forebrain defects, and facial clefts
|
C536713 |
|
|
developmental and epileptic encephalopathy, 58
|
33367 |
|
|
multiple, with early-onset diabetes mellitus epiphyseal dysplasia
|
C536739 |
|
