|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
11478 |
|
|
PIGY hyperphosphatasia-intellectual disability syndrome
|
14780 |
|
|
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
14787 |
|
|
juvenile tay-sachs disease
|
C564782 |
|
|
biliary tree inflammation
|
4789 |
|
|
perihilar bile duct carcinoma
|
44788 |
|
|
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
|
16478 |
|
|
combined immunodeficiency due to DOCK8 deficiency
|
9478 |
|
|
combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
|
9478 |
|
|
multiple MITOCHONDRIAL dysfunctions syndrome 6
|
54785 |
|
|
multiple mitochondrial dysfunctions syndrome 6
|
54785 |
|
|
multiple MITOCHONDRIAL dysfunctions syndrome 6; MMDS6
|
http://purl.obolibrary.org/obo/MONDO_0054785 |
|
