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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 32768
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 32781
malignant middle Ear tumor 3275
COFFIN-SIRIS SYNDROME 8 32702
Coffin-Siris syndrome 8 32702
Sed With Elevated Blood Lysosomal Enzymes 32721
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 32768
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME 32714
SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 32737
spastic paraplegia 80, autosomal dominant 32737
SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE 32753
spastic ataxia 9, autosomal recessive 32753
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME 32774
lymphedema, hereditary, IC 13278
lymphedema, hereditary, IC; LMPH1C http://purl.obolibrary.org/obo/MONDO_0013278