Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 37
C3888102 Frontotemporal Dementia With Motor Neuron Disease disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity 7
C3468114 Juvenile amyotrophic lateral sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4
C3714524 Fibromyxosarcoma disease Neoplasms Neoplastic Process disease of cellular proliferation 3
C0206634 Liposarcoma, Myxoid disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of connective tissue 2