Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4476724 Abnormal cellular phenotype phenotype Cell or Molecular Dysfunction Abnormal cellular phenotype 4
C4020957 Abnormal trabecular bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 6
C4023722 Abnormality of hair texture disease Finding Abnormality of the integument 15
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 140
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 85
C1846228 Absence of pubertal development phenotype Finding Abnormality of the endocrine system 24
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 21
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 38
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C4025739 Acroosteolysis of distal phalanges (feet) disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C1846223 Adrenal hypoplasia phenotype Finding disease of anatomical entity Abnormality of the endocrine system 23
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
C0856747 Aneurysm of ascending aorta phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 17
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 34
C0003090 Ankylosis phenotype Musculoskeletal Diseases Pathologic Function disease of anatomical entity Abnormality of the skeletal system 13
C4024159 Aplasia/Hypoplasia involving the nose phenotype Finding Abnormality of head or neck 8
C4024993 Aplasia/Hypoplasia of the clavicles phenotype Finding Abnormality of the skeletal system 5
C1851792 Aplasia/Hypoplasia of the earlobes disease Congenital Abnormality Abnormality of the ear 11
C4021956 Aplasia/Hypoplasia of the eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 52
C1844618 Aplasia/Hypoplastia of the eccrine sweat glands disease Anatomical Abnormality Abnormality of the integument 3
C1857665 Aplastic clavicle phenotype Congenital Abnormality Abnormality of the skeletal system 19
C4025270 Arteriosclerosis of small cerebral arteries disease Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the cardiovascular system 3
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
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 250