MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
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
stomach dilation D013271
frontonasal dysplasia 3; FND3 http://purl.obolibrary.org/obo/MONDO_0013271
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 13271
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 32710
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME 32714
Mental Retardation, Autosomal Recessive 69 32715
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 32715
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive 32717
ALX1-related frontonasal dysplasia 13271
AMELOGENESIS IMPERFECTA, TYPE IIIC 32717
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 32712
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE 32716
intellectual developmental disorder, autosomal recessive 69 32715
combined oxidative phosphorylation deficiency 38 32712
developmental and epileptic encephalopathy, 72 32710