hereditary clubfoot due to 17q23.1-q23.2 microduplication
|
13329 |
|
familial clubfoot due to 17q23.1q23.2 microduplication
|
13329 |
|
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
14332 |
|
hypertrophic cardiomyopathy due to intensive athletic training
|
16332 |
|
deafness, autosomal dominant 34, with or without inflammation
|
33261 |
|
deafness, autosomal dominant 34, with or without inflammation; DFNA34
|
http://purl.obolibrary.org/obo/MONDO_0033261 |
|
deafness, autosomal dominant 71
|
33258 |
|
deafness, autosomal dominant 71; DFNA71
|
http://purl.obolibrary.org/obo/MONDO_0033258 |
|
deafness, autosomal dominant 72
|
33259 |
|
deafness, autosomal dominant 72; DFNA72
|
http://purl.obolibrary.org/obo/MONDO_0033259 |
|
deafness, autosomal dominant 73
|
33260 |
|
deafness, autosomal dominant 73; DFNA73
|
http://purl.obolibrary.org/obo/MONDO_0033260 |
|
multiple mitochondrial dysfunctions syndrome 5
|
33282 |
|