MONDO Find_IDs Find_Terms Annotation
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created at 2019-07-11 18:15:35 UTC
updated at 2020-12-23 10:47:34 UTC
diseases or disorders as defined in MONDO disease ontology (the version released on 2019-05-28). The terms are sourced from BioPortal on July 12, 2019.
121,242 entries
Label
Id
KFS2 http://purl.obolibrary.org/obo/MONDO_0008958
Klippel-Feil syndrome 2, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0008958
Klippel-FEIL syndrome 2, autosomal recessive; KFS2 http://purl.obolibrary.org/obo/MONDO_0008958
Klippel-Feil syndrome 2, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0008958
Kfs, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0008958
isolated Klippel-Feil syndrome caused by mutation in MEOX1 http://purl.obolibrary.org/obo/MONDO_0008958
MEOX1 isolated Klippel-Feil syndrome http://purl.obolibrary.org/obo/MONDO_0008958
cervical vertebral fusion, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0008958