MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia 9890
short-rib thoracic dysplasia 6 with or without polydactyly 9894
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
disease or disorder of pes 44989
short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6 http://purl.obolibrary.org/obo/MONDO_0009894
benign fibrous histiocytoma 2989
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
disorder of foot 44989
early infantile epileptic encephalopathy caused by mutation in KCNT1 13989
developmental and epileptic encephalopathy, 14 13989