Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0950123 Genetic Diseases, Inborn group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 505 827
C4020875 Mental and motor retardation phenotype Pathologic Function Abnormality of the nervous system 110 151
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 73 116
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 68 79
C0036572 Seizures phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the nervous system 65 103
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 58 4864
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 58 162
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 55 201
C0424688 Small head phenotype Finding Abnormality of head or neck; Abnormality of the nervous system; Abnormality of the skeletal system 37 57
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of cellular proliferation 36 153
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the respiratory system; Neoplasm 36 209
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the breast; Neoplasm 33 279
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 32 214
C0278701 Gastric Adenocarcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 31 187
C0699790 Colon Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 28 54
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 28 173
C0008780 Ciliary Motility Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease Abnormality of the respiratory system 27 190
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 26 340
C0022521 Kartagener Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 26 62
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm 26 125
C0279680 Transitional cell carcinoma of bladder disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 26 142
C0153574 Malignant Uterine Corpus Neoplasm disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 25 149
C0349588 Short stature phenotype Finding Growth abnormality 25 36
C0454644 Delayed speech and language development phenotype Finding Abnormality of the nervous system 24 39
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 24 54