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
MDDGA4 9678
muscle-eye-brain-FKTN related 9678
muscular dystrophy-dystroglycanopathy (Congenital with Brain and eye anomalies) type A, 4 http://purl.obolibrary.org/obo/MONDO_0009678
muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4 9678
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 9678
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4 http://purl.obolibrary.org/obo/MONDO_0009678
brachydactyly type A5 19678
brachydactyly type A5 nail dysplasia 19678
brachydactyly with absence of middle phalanges and hypoplastic nails 19678
congenital muscular dystrophy, Fukuyama type 9678
Fukuyama congenital muscular dystrophy 9678
Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related 9678
Walker-Warburg syndrome or muscle-eye-brain disease, Fktn-Related http://purl.obolibrary.org/obo/MONDO_0009678
absent middle phalanges of digits 2-5 with nail dysplasia 19678