Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 31 38
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 31 34
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C0278701 Gastric Adenocarcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 30 188
C1844820 Range of joint movement increased phenotype Finding Abnormality of the skeletal system 30 46
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 30 42
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 30 38
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 30 32
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 29 57
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 28 802
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 28 90
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 28 74
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C4072872 obsolete Rod-cone dystrophy disease Disease or Syndrome 28 41
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 28 39
C0025362 Mental Retardation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 28 36
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 27 179
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 27 141