|
chromosome 16p13.3 duplication syndrome
|
13273 |
|
|
autosomal recessive dyskeratosis congenita 4
|
27353 |
|
|
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
|
32738 |
|
|
EPB41 hereditary elliptocytosis
|
12731 |
|
|
alpha-1 related emphysema
|
C566273 |
|
|
hereditary pulmonary emphysema
|
C566273 |
|
|
juvenile Spring eruption of ears
|
8273 |
|
|
polymorphic Light eruption, hereditary
|
8273 |
|
|
tremor, hereditary essential, and idiopathic NORMAL pressure hydrocephalus; ETINPH
|
http://purl.obolibrary.org/obo/MONDO_0012732 |
|
|
tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
|
12732 |
|
|
paragangliomas, hereditary extraadrenal
|
7273 |
|
|
pheochromocytoma, familial extraadrenal
|
7273 |
|
|
Rosai-Dorfman disease, familial
|
11273 |
|
|
aortic aneurysm, familial thoracic 6
|
12730 |
|
|
aortic aneurysm, familial thoracic 6; AAT6
|
http://purl.obolibrary.org/obo/MONDO_0012730 |
|
