Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0043325 Xanthomatosis disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument 9
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3
C0240953 Winged scapula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature 70
C1849300 Widely patent fontanelles and sutures phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 17
C0344312 White forelock phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 12
C0231712 Waddling gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 101
C0042928 Vocal Cord Paralysis disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the voice 30
C0240912 Vertical Talus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 38
C0340279 Ventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 21
C0232216 Ventricular escape rhythm phenotype Pathologic Function Abnormality of the cardiovascular system 7
C0242698 Ventricular Dysfunction, Left phenotype Cardiovascular Diseases Pathologic Function 49
C4553764 Ventricular Arrhythmia, CTCAE 5.0 phenotype Finding 17
C1883529 Ventricular Arrhythmia, CTCAE 3.0 phenotype Finding 17
C0344424 Ventricular Arrhythmia by ECG Finding phenotype Laboratory or Test Result 17
C0085612 Ventricular arrhythmia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 17
C1861403 Variable expressivity phenotype Finding 319
C4023180 Type 1 muscle fiber atrophy disease Disease or Syndrome Abnormality of the musculature 15
C0040761 Transposition of Great Vessels disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 24
C0007787 Transient Ischemic Attack disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 44
C0040433 Tooth Crowding phenotype Stomatognathic Diseases Finding Abnormality of head or neck 74
C0427144 Toe-walking gait phenotype Finding Abnormality of the nervous system 48
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 25
C0836924 Thrombocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 28
C4015465 Thoracic kyphoscoliosis phenotype Finding Abnormality of the skeletal system 19
C0423757 Thin skin phenotype Finding Abnormality of the integument 76