|
pigmentary abnormality of the anterior segment of the eye
|
C538115 |
|
|
congenital absence of insulin-producing beta cells with diabetes mellitus
|
C538111 |
|
|
MRPL3 combined oxidative phosphorylation deficiency
|
13811 |
|
|
hypotelorism cleft palate hypospadias
|
8113 |
|
|
idiopathic severe pneumococcemia
|
18111 |
|
|
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
|
18117 |
|
|
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
|
18118 |
|
|
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
|
18119 |
|
|
combined oxidative phosphorylation defect type 9
|
13811 |
|
|
combined oxidative phosphorylation deficiency 9
|
13811 |
|
|
combined oxidative phosphorylation deficiency 9; COXPD9
|
http://purl.obolibrary.org/obo/MONDO_0013811 |
|
|
combined oxidative phosphorylation deficiency caused by mutation in MRPL3
|
13811 |
|
|
combined oxidative phosphorylation deficiency type 9
|
13811 |
|
|
microcephaly, mental retardation, and tracheoesophageal fistula syndrome
|
8115 |
|
|
high altitude pulmonary edema
|
21811 |
|
