All terms in MONDO
| Label |
Id |
Description |
|
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
|
MONDO_0014948 |
|
|
developmental and epileptic encephalopathy, 46
|
MONDO_0014947 |
|
|
Sifrim-Hitz-Weiss syndrome
|
MONDO_0014946 |
|
|
prostate cancer, hereditary, 6
|
MONDO_0012300 |
|
|
familial prostate carcinoma
|
MONDO_0023122 |
|
|
Shashi-Pena syndrome
|
MONDO_0014963 |
|
|
intellectual disability, autosomal recessive 57
|
MONDO_0014962 |
|
|
mitochondrial DNA depletion syndrome, myopathic form
|
MONDO_0012301 |
|
|
inborn disorder of pyrimidine metabolism
|
MONDO_0019238 |
|
|
spermatogenic failure 16
|
MONDO_0014961 |
|
|
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
|
MONDO_0014960 |
|
|
heterotaxy, visceral, 8, autosomal
|
MONDO_0014967 |
|
|
photoparoxysmal response 2
|
MONDO_0012304 |
|
|
photosensitive epilepsy
|
MONDO_0015643 |
|
|
photoparoxysmal response 3
|
MONDO_0012305 |
|
|
periventricular nodular heterotopia 7
|
MONDO_0014966 |
|
|
periventricular nodular heterotopia
|
MONDO_0020341 |
|
|
lethal congenital contracture syndrome 11
|
MONDO_0014965 |
|
|
parietal foramina 3
|
MONDO_0012302 |
|
|
migraine with or without aura, susceptibility to, 8
|
MONDO_0012303 |
|
