|
systemic carnitine deficiency
|
C536778 |
|
|
chromosome 15q25 deletion syndrome
|
13672 |
|
|
pancreatic hypoplasia diabetes heart disease
|
C536714 |
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
C536742 |
|
|
malabsorptive, congenital diarrhea 4
|
C563673 |
|
|
wiedemann grosse dibbern syndrome
|
C536704 |
|
|
x-linked immunoneurologic disorder
|
C536743 |
|
|
TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy
|
13677 |
|
|
osteosclerosis, autosomal dominant worth type with torus palatinus
|
C536748 |
|
|
chromosome xq duplication syndrome
|
C536732 |
|
|
x chromosome, duplication xq13 1 q21 1
|
C536753 |
|
|
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 |
|
