Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4304347 Timothy syndrome type 2 disease Disease or Syndrome 0 4
C0268290 Severe steroid 21-hydroxylase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 0 3
C0549117 Frontal lobe syndrome disease Disease or Syndrome 0 3
C0700075 Motor restlessness phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 0 3
C3540839 Neonatal Drug Withdrawal disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 0 3
C0011320 Dens in Dente disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 0 2
C0085666 Spider nevus disease Neoplasms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 0 2
C0272006 Unstable hemoglobin disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 0 2
C0341479 Infected pancreatic necrosis disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 0 2
C0406347 Disseminated superficial porokeratosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 0 2
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 0 2
C0863104 Neck discomfort phenotype Sign or Symptom 0 2
C1833699 Osteopoikilosis, Isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 0 2
C1853892 Dimethylglycine Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 0 2
C1863198 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C1863416 Autosomal dominant compelling helio ophthalmic outburst syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 0 2
C4016741 IMMUNODEFICIENCY 32B disease Disease or Syndrome 0 2
C4749271 Aleukemic mast cell leukemia disease Neoplasms; Immune System Diseases Neoplastic Process 0 2
C0023213 Ventricular Outflow Obstruction, Left disease Cardiovascular Diseases Disease or Syndrome 0 1
C0030591 Paroxysmal ventricular tachycardia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 0 1
C0035085 Renal infarction disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 0 1
C0036904 Sexual desire disorder disease Mental Disorders Mental or Behavioral Dysfunction 0 1
C0038539 Empyema, Subdural disease Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity 0 1
C0085680 Hypochloremia (disorder) disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 0 1
C0152194 Irregular astigmatism disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 0 1