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
prothrombin deficiency, congenital 13361
BEAULIEU-BOYCOTT-Innes syndrome; BBIS http://purl.obolibrary.org/obo/MONDO_0013362
Rubinstein-Taybi syndrome caused by mutation in EP300 13364
hypertrophic cardiomyopathy caused by mutation in TNNI3 13369
brachyolmia type 2 13360
Rubinstein-Taybi syndrome 2 13364
autosomal recessive deafness 83 13365
factor 2 deficiency 13361
factor II deficiency 13361
hereditary prothrombin deficiency 13361
neoplasm, sublingual gland D013362
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 13362
submandibular gland diseases D013364
hemophagocytic lymphohistiocytosis, familial, 4 11336
hemophagocytic lymphohistiocytosis, familial, 4; FHL4 http://purl.obolibrary.org/obo/MONDO_0011336