Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1262477 Weight decreased phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 247
C0042571 Vertigo phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom disease of anatomical entity Abnormality of the ear 88
C0042138 Uterine Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 9
C1860614 ULNAR HYPOPLASIA phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 50
C4551560 Truncal obesity phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding Growth abnormality 35
C0040961 Tricuspid Valve Insufficiency disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 27
C0151468 Thyroid Gland Follicular Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 15
C1969546 Thyroid follicular hyperplasia phenotype Finding Abnormality of the endocrine system 1
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 17
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 9
C0040038 Thromboembolism phenotype Cardiovascular Diseases Pathologic Function Abnormality of blood and blood-forming tissues 13
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 237
C0423757 Thin skin phenotype Finding Abnormality of the integument 76
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 650
C0038362 Stomatitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 26
C1859126 Stippled epiphyses phenotype Finding genetic disease; syndrome Abnormality of the skeletal system 28
C1861329 Spinal canal stenosis disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 23
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 155
C0264142 Spade-like hand disease Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 24
C0271561 Somatotropin deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 75
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 30
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C1836195 Short toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 53
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0349588 Short stature phenotype Finding Growth abnormality 1005