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
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 13271
frontonasal dysplasia 3; FND3 http://purl.obolibrary.org/obo/MONDO_0013271
intellectual developmental disorder, autosomal recessive 69 32715
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 32715
AMELOGENESIS IMPERFECTA, TYPE IIIC 32717
frontonasal dysplasia 3 13271
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 32710
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME 32714
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive 32717
Mental Retardation, Autosomal Recessive 69 32715
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 32712
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE 32716
epileptic encephalopathy, early infantile, 72 32710
ALX1-related frontonasal dysplasia 13271
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 32714