Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 9 14
C0553721 Diminished sweating phenotype Skin and Connective Tissue Diseases; Nervous System Diseases Finding Abnormality of the integument 5 7
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 14 11
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 18 32
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 5 5
C0452138 Sensorineural hearing loss, bilateral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the ear 15 22
C0042571 Vertigo phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom disease of anatomical entity Abnormality of the ear 13 12
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 6 6
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
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
C0578682 Madarosis of eyebrow disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of head or neck 1 1
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 4 70
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
C0340279 Ventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 5
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 6 9
C0020437 Hypercalcemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 4 4
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C0031117 Peripheral Neuropathy group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 18 22
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
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
C0553723 Squamous cell carcinoma of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 12 54
C0149782 Squamous cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 22 135
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 13 82