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
autosomal dominant non-syndromic intellectual disability 39 14678
autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L 14678
male infertility, nonsyndromic, autosomal recessive C567832
patella, chondromalacia of D046789
spastic ataxia of charlevoix-saguenay C536787
adult fibrosarcoma of childhood http://purl.obolibrary.org/obo/MONDO_0002678
congenital disorder of glycosylation, type io C567857
hemorrhagic disease of newborn 6784
inborn error of pyruvate metabolic process 16789
eccrine hidrocystoma of skin 6787
fibular agenesis-hypoplasia, oligodactylous clubfeet, and anonychia-nail hypoplasia syndrome C567819
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
congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities C567863
anterior knee pain syndrome D046788