Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025252 Abnormal nasal morphology disease Anatomical Abnormality Abnormality of head or neck 34
C1328440 Abnormality of amino acid metabolism phenotype Finding Abnormality of metabolism/homeostasis 8
C4023722 Abnormality of hair texture disease Finding Abnormality of the integument 15
C4023616 Abnormality of immune system physiology phenotype Pathologic Function Abnormality of the immune system 42
C4025797 Abnormality of prenatal development or birth disease Finding Abnormality of prenatal development or birth 23
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 140
C4021797 Abnormality of the thorax disease Anatomical Abnormality Abnormality of the skeletal system 40
C0241267 Absence of subcutaneous fat phenotype Finding Abnormality of connective tissue 11
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 81
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 118
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 261
C0238621 Aminoaciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 58
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 308
C0339182 Ankyloblepharon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality disease of anatomical entity Abnormality of head or neck 14
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 116
C1859077 Aplasia/Hypoplasia of the nails phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 14
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 157
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
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 446
C0004106 Astigmatism disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 123
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
C0151514 Atrophic condition of skin group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 36