|
17 beta-hydroxysteroid dehydrogenase type 10 deficiency
|
10327 |
|
|
global developmental delay, progressive ataxia, and elevated glutamine
|
32733 |
|
|
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
|
32705 |
|
|
Mycobacterium ulcerans disease or disorder
|
327 |
|
|
middle ear disease or disorder
|
3276 |
|
|
polycystic liver disease 4 with OR without kidney cysts; PCLD4
|
http://purl.obolibrary.org/obo/MONDO_0044327 |
|
|
polycystic liver disease 4 with or without kidney cysts
|
44327 |
|
|
intellectual developmental disorder with severe speech and ambulation defects
|
32770 |
|
|
intellectual developmental disorder with short stature and variable skeletal anomalies
|
32759 |
|
|
intellectual developmental disorder, autosomal recessive 69
|
32715 |
|
|
intellectual developmental disorder, autosomal recessive 70
|
32729 |
|
|
intellectual developmental disorder, autosomal recessive 71
|
32789 |
|
|
HSD10 mitochondrial disease; HSD10MD
|
http://purl.obolibrary.org/obo/MONDO_0010327 |
|
