Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 43 100
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 49
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 39 436
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 38 153
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 35 47
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 34 314
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 31 216
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39