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
Saethre-Chotzen syndrome; SCS http://purl.obolibrary.org/obo/MONDO_0007042
OI, type 5 osteogenesis imperfecta, type 5 C567042
acrocephalosyndactyly type III 7042
acrocephaly, skull asymmetry, and mild syndactyly 7042
blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) 7042
OI5 osteogenesis imperfecta 5 C567042
phenylketonuria, pregnancy in D017042
pregnancy in phenylketonuria D017042
OI, type v C567042
OI, type v osteogenesis imperfecta, type v C567042
phenylalanine-hydroxylase deficiency disease, maternal D017042
blepharophimosis, epicanthus inversus, and ptosis 3 7042
blepharophimosis, epicanthus inversus, and ptosis 3, formerly 7042
Saethre-Chotzen syndrome with eyelid anomalies 7042
maternal phenylalanine-hydroxylase deficiency disease D017042