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
infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hyperuricemia C565489
hypohidrosis with abnormal palmar dermal ridges C565481
split hairs, and amino aciduria ichthyosis C565471
tibial campomelia, and oligosyndactyly syndrome fibular aplasia C565436
KPC with associated malformations C565455
congenital, with central diabetes insipidus hypopituitarism C565477
Ascaris lumbricoides caused disease or disorder 5654
antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia C565427
immunodeficiency, partial combined, with absence of HLA determinants and beta-2-microglobulin from lymphocytes C565468
congenital anterior cervical, with peripheral sensory and motor neuropathy hypertrichosis C565492
autosomal recessive congenital analgesia C565467
keratoconus posticus circumscriptus with associated malformations C565455
pyruvate dehydrogenase e2 deficiency C565448
pseudoarylsulfatase a deficiency C565403
combined congenital deficiency of intrinsic factor and r binder C565461