|
hyper Ig E syndrome, autosomal recessive
|
9478 |
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71
|
32678 |
|
|
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
|
20781 |
|
|
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
|
32781 |
|
|
lichen SCLEROSUS ET ATROPHICUS
|
7899 |
|
|
lichen SCLEROSUS ET ATROPHICUS; LSA
|
http://purl.obolibrary.org/obo/MONDO_0007899 |
|
|
keratosis palmaris ET plantaris with clinodactyly
|
7857 |
|
|
erythrokeratodermia variabilis ET progressiva
|
17851 |
|
|
erythrokeratodermia variabilis ET progressiva; EKVP
|
http://purl.obolibrary.org/obo/MONDO_0017851 |
|
|
Early-onset FECD Early-onset fuchs' endothelial corneal dystrophy
|
C535478 |
|
|
Zinsser Cole Engman syndrome
|
15780 |
|
|
keratosis palmaris Et plantaris with esophageal cancer
|
7856 |
|
