All terms in MONDO
| Label |
Id |
Description |
|
Galloway-Mowat syndrome 10
|
MONDO_0030476 |
|
|
fibular hemimelia, bilateral
|
MONDO_0017493 |
|
|
Galloway-Mowat syndrome 9
|
MONDO_0030471 |
|
|
obsolete congenital absence of upper arm and forearm with hand present, unilateral
|
MONDO_0017494 |
|
|
developmental and epileptic encephalopathy 99
|
MONDO_0030473 |
|
|
obsolete congenital absence of upper arm and forearm with hand present, bilateral
|
MONDO_0017495 |
|
|
congenital absence of thigh and lower leg with foot present, unilateral
|
MONDO_0017496 |
|
|
developmental and epileptic encephalopathy 98
|
MONDO_0030472 |
|
|
tibial hemimelia, unilateral
|
MONDO_0017490 |
|
|
tibial hemimelia, bilateral
|
MONDO_0017491 |
|
|
fibular hemimelia, unilateral
|
MONDO_0017492 |
|
|
hereditary alpha tryptasemia syndrome
|
MONDO_0850201 |
|
|
spermatogenic failure 58
|
MONDO_0030463 |
|
|
cataract 49
|
MONDO_0030465 |
|
|
Joubert syndrome 40
|
MONDO_0030462 |
|
|
T cell and NK cell immunodeficiency
|
MONDO_0850200 |
|
|
immunodeficiency 87 and autoimmunity
|
MONDO_0030457 |
|
|
muscular dystrophy, limb-girdle, autosomal recessive 27
|
MONDO_0030456 |
|
|
Charcot-Marie-Tooth disease, axonal, Type 2HH
|
MONDO_0030458 |
|
|
immunodeficiency 91 and hyperinflammation
|
MONDO_0030491 |
|
