All terms in MONDO
| Label |
Id |
Description |
|
histidinemia
|
MONDO_0009345 |
|
|
inborn disorder of histidine metabolism
|
MONDO_0019228 |
|
|
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
|
MONDO_0009344 |
|
|
Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
|
MONDO_0009343 |
|
|
Hirschsprung disease-hearing loss-polydactyly syndrome
|
MONDO_0009342 |
|
|
dicarboxylic aminoaciduria
|
MONDO_0009110 |
|
|
catecholaminergic polymorphic ventricular tachycardia 2
|
MONDO_0012762 |
|
|
epilepsy, childhood absence, susceptibility to, 6
|
MONDO_0012763 |
|
|
childhood absence epilepsy
|
MONDO_0010826 |
|
|
epilepsy, idiopathic generalized, susceptibility to, 5
|
MONDO_0012760 |
|
|
Teebi-Shaltout syndrome
|
MONDO_0010101 |
|
|
chromosome 3q29 microduplication syndrome
|
MONDO_0012761 |
|
|
Tay-Sachs disease
|
MONDO_0010100 |
|
|
GM2 gangliosidosis
|
MONDO_0017720 |
|
|
hereditary spastic paraplegia 37
|
MONDO_0012766 |
|
|
teeth, fused
|
MONDO_0010103 |
|
|
age related macular degeneration 11
|
MONDO_0012767 |
|
|
taurodontia-absent teeth-sparse hair syndrome
|
MONDO_0010102 |
|
|
teratoma, pineal
|
MONDO_0010105 |
|
|
RIDDLE syndrome
|
MONDO_0012764 |
|