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
split hairs, and amino aciduria ichthyosis C565471
congenital anterior cervical, with peripheral sensory and motor neuropathy hypertrichosis C565492
KPC with associated malformations C565455
antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia C565427
infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hyperuricemia C565489
hypohidrosis with abnormal palmar dermal ridges C565481
tibial campomelia, and oligosyndactyly syndrome fibular aplasia C565436
immunodeficiency, partial combined, with absence of HLA determinants and beta-2-microglobulin from lymphocytes C565468
keratoconus posticus circumscriptus with associated malformations C565455
Ascaris lumbricoides caused disease or disorder 5654
congenital, with central diabetes insipidus hypopituitarism C565477
autosomal recessive congenital analgesia C565467
idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 15654
pseudoarylsulfatase a deficiency C565403
combined congenital deficiency of intrinsic factor and r binder C565461