Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1848873 Abnormality of the diaphragm phenotype Anatomical Abnormality Abnormality of the musculature 8
C4021797 Abnormality of the thorax disease Anatomical Abnormality Abnormality of the skeletal system 40
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 198
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C3711389 Actin-Accumulation Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C3554617 Adducted thumb phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 74
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 136
C0544966 Autophagic vaculoes (finding) phenotype Finding Abnormality of the musculature 6
C1843697 Axial muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 28
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 574
C0233565 Bradykinesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 97
C0006157 Breech Presentation phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 30
C4082299 Bulbar palsy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 44
C1856507 Bulbar signs phenotype Finding Abnormality of the nervous system 33
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 496
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46
C1842820 Cardiac conduction abnormality phenotype Finding Abnormality of the cardiovascular system 18
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 163
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 148
C1842170 Centrally nucleated skeletal muscle fibers phenotype Finding Abnormality of the musculature 25
C0233844 Clumsiness phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the nervous system 48
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 242
C4551649 Congenital Dysplasia Of The Hip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 80
C0546264 Congenital Fiber Type Disproportion disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 6