|
macrocephaly and dysplastic nails pectus excavatum
|
C536728 |
|
|
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 |
|
|
chromosome xq duplication syndrome
|
C536732 |
|
|
x chromosome, duplication xq13 1 q21 1
|
C536753 |
|
|
cyclic, with epidermolytic hyperkeratosis ichthyosis
|
C564367 |
|
|
febrile seizures, familial, 1
|
7367 |
|
|
developmental and epileptic encephalopathy, 58
|
33367 |
|
|
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 |
|
|
multiple, with early-onset diabetes mellitus epiphyseal dysplasia
|
C536739 |
|
