|
hypogonadotropic hypogonadism caused by mutation in FGFR1
|
7844 |
|
|
Moyamoya disease caused by mutation in RNF213
|
11784 |
|
|
Noonan-like-multiple giant cell lesion syndrome
|
C537846 |
|
|
nonseminomatous germ cell tumor
|
C537844 |
|
|
diffusa, myelinosis centralis
|
D056784 |
|
|
diffusas, myelinosis centralis
|
D056784 |
|
|
autosomal recessive cerebellar ataxia type 2
|
12784 |
|
|
short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies
|
7846 |
|
|
short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
|
7846 |
|
|
gm2-gangliosidosis, adult chronic type
|
C564784 |
|
|
dentin dysplasias, coronal
|
D003784 |
|
|
patella aplasia, coxa vara, tarsal synostosis
|
7841 |
|
|
mal de debarquement syndrome
|
C537840 |
|
|
vitamin K deficiency bleeding in newborn
|
6784 |
|
