Diseases

Name Orphanumber Description XREF(s)
Bile acid primary malabsorption OMIM
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia OMIM
Rendu Osler Weber
Mental retardation, autosomal recessive 58 OMIM
Abdominal obesity-metabolic syndrome 3 OMIM
Intellectual developmental disorder with cardiac arrhythmia OMIM
Ichthyosis vulgaris OMIM
Sudden cardiac failure, infantile OMIM
Glycogen storage disease IV
Cardiomyopathy, hypertrophic, 17 OMIM
Cardiomyopathy, hypertrophic, 16 OMIM
Cardiomyopathy, hypertrophic, 8 OMIM
BILE ACID MALABSORPTION OMIM
Premature Ovarian Failure
disease 123456 test
Nystagmus, infantile periodic alternating, X-linked X-linked infantile nystagmus is a… OMIM
Endometrial Cancer OMIM
CPT deficiency, hepatic, type IA
Paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of…
Arthrogryposis, renal dysfunction, and cholestasis
Download XLSX
Download PDF