|
partial monosomy 8p2 chromosome 8
|
C537826 |
|
|
retinitis pigmentosa 9; RP9
|
http://purl.obolibrary.org/obo/MONDO_0008378 |
|
|
groenouw type II corneal dystrophy
|
C537834 |
|
|
shields type II dentin dysplasia
|
D003784 |
|
|
pseudohypoaldosteronism, type IID
|
13781 |
|
|
pseudohypoaldosteronism, type IID; PHA2D
|
http://purl.obolibrary.org/obo/MONDO_0013781 |
|
|
pseudohypoaldosteronism, type IIE
|
13782 |
|
|
pseudohypoaldosteronism, type IIE; PHA2E
|
http://purl.obolibrary.org/obo/MONDO_0013782 |
|
|
corneal dystrophy, POSTERIOR polymorphous, 1
|
7378 |
|
|
corneal dystrophy, POSTERIOR polymorphous, 1; PPCD1
|
http://purl.obolibrary.org/obo/MONDO_0007378 |
|
|
auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy
|
10378 |
|
|
cellular amino acid metabolic process disease
|
37871 |
|
|
inherited fatty acid metabolism disorder
|
37858 |
|
|
disorder of amino acid metabolism
|
37871 |
|
