MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
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 recessive, Idh3b-Related retinitis pigmentosa C567249
diamond-blackfan anemia 8 C567253
intracranial berry, 9 aneurysm C567238
type 3 VWD D056729
joint hypermobility, and skin laxity, with or without metabolic abnormalities mental retardation C567209
aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor C567292
primary, 12 ciliary dyskinesia C567211
severe congenital, autosomal recessive 4 neutropenia C567260
microcephaly, primary autosomal recessive, 5, with simplified gyral pattern C567221
retinitis pigmentosa, autosomal recessive, Idh3b-Related C567249
hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy C567203
leukopenia, and atrial septal defect pulmonary arterial hypertension C567260
type 3 berardinelli-seip congenital lipodystrophy C567282
North American blastomycosis 5672
Blastomyces dermatitidis caused disease or disorder 5672