MONDO Find_IDs Find_Terms Annotation
manager
language -
license -
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
hereditary hypophosphatemic rickets http://purl.obolibrary.org/obo/MONDO_0000044
hypothyroidism, congenital, nongoitrous http://purl.obolibrary.org/obo/MONDO_0000045
isolated congenital growth hormone deficiency http://purl.obolibrary.org/obo/MONDO_0000050
non-acquired isolated growth hormone deficiency http://purl.obolibrary.org/obo/MONDO_0000050
IGHD http://purl.obolibrary.org/obo/MONDO_0000050
congenital isolated growth hormone deficiency http://purl.obolibrary.org/obo/MONDO_0000050
familial isolated growth hormone deficiency http://purl.obolibrary.org/obo/MONDO_0000050
congenital isolated GH deficiency http://purl.obolibrary.org/obo/MONDO_0000050
isolated growth hormone deficiency http://purl.obolibrary.org/obo/MONDO_0000050
congenital IGHD http://purl.obolibrary.org/obo/MONDO_0000050
microcephalic osteodysplastic primordial dwarfism http://purl.obolibrary.org/obo/MONDO_0000060
isolated microphthalmia http://purl.obolibrary.org/obo/MONDO_0000062
microphthalmia, isolated http://purl.obolibrary.org/obo/MONDO_0000062
nonsyndromic microphthalmia http://purl.obolibrary.org/obo/MONDO_0000062
mitochondrial complex deficiency http://purl.obolibrary.org/obo/MONDO_0000066