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
diamond-blackfan anemia 8 C567253
intracranial berry, 9 aneurysm C567238
hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy C567203
wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome C567292
aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor C567292
leukopenia, and atrial septal defect pulmonary arterial hypertension C567260
immunodeficiency, hypogammaglobulinemia, and reduced b cells C567200
severe congenital, autosomal recessive 4 neutropenia C567260
joint hypermobility, and skin laxity, with or without metabolic abnormalities mental retardation C567209
microcephaly, primary autosomal recessive, 5, with simplified gyral pattern C567221
retinitis pigmentosa, autosomal recessive, Idh3b-Related C567249
myopathy, congenital, compton-north C567261
primary, 12 ciliary dyskinesia C567211
primary, 11 ciliary dyskinesia C567212
primary, 10 ciliary dyskinesia C567287