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
spastic paraplegia 37, autosomal dominant 12766
spastic paraplegia 37, autosomal dominant; SPG37 http://purl.obolibrary.org/obo/MONDO_0012766
partial monosomy 4p 22762
parkinson disease 6, autosomal recessive early-onset C565276
parkinson disease 6, early-onset C565276
Bernard-Soulier syndrome; BSS http://purl.obolibrary.org/obo/MONDO_0009276
macrothrombocytopenia, familial Bernard-Soulier type 9276
obsolete protein C deficiency 2767.0
chromosome 3q29 DUPLICATION syndrome 12761
Apolipoprotein A-I Deficiency 32766
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 32768
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 32768
Von Willebrand Factor receptor deficiency 9276
lymphedema, hereditary, IB; LMPH1B http://purl.obolibrary.org/obo/MONDO_0012765
childhood onset IBGC C536276