togoid_mondo_label_20251126 Find_IDs Find_Terms Annotation
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created at 2025-11-26 04:53:50 UTC
updated at 2025-11-27 01:00:35 UTC
Mondo ID - Mondo Label
30,114 entries
Label
Id
46,XY sex reversal 7 0009301
granulomatous disease with defect in neutrophil chemotaxis 0009307
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0009308
hemangiomatosis, cutaneous, with associated features 0009328
hemolytic anemia with thermal sensitivity of red cells 0009334
humeroradial synostosis with craniofacial anomalies 0009357
autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius 0009361
hyperlysinemia due to defect in lysine transport into mitochondria 0009389
hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 0009396
hypokalemic alkalosis, familial, with specific renal tubulopathy 0009423
Bartter disease type 2 0009424
immunodeficiency with defective T-cell response to interleukin 1 0009464
Kniest-like dysplasia with pursed lips and ectopia lentis 0009496
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0009526
chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation 0009534