|
polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia
|
9890 |
|
|
disease or disorder of pes
|
44989 |
|
|
Kleefstra syndrome due to 9q subtelomeric deletion
|
19896 |
|
|
Kleefstra syndrome due to 9q34 microdeletion
|
19896 |
|
|
Kleefstra syndrome due to del(9)(q34)
|
19896 |
|
|
Kleefstra syndrome due to monosomy 9q34
|
19896 |
|
|
short-rib thoracic dysplasia 6 with or without polydactyly
|
9894 |
|
|
short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6
|
http://purl.obolibrary.org/obo/MONDO_0009894 |
|
|
epileptic encephalopathy, early infantile, 14
|
13989 |
|
|
epileptic encephalopathy, early infantile, 14; EIEE14
|
http://purl.obolibrary.org/obo/MONDO_0013989 |
|
|
epileptic encephalopathy, early infantile, type 14
|
13989 |
|
|
early infantile epileptic encephalopathy caused by mutation in KCNT1
|
13989 |
|
|
developmental and epileptic encephalopathy, 14
|
13989 |
|
|
acquired primary erythrocytosis
|
9891 |
|
|
nephrogenic systemic fibroses
|
D054989 |
|
