Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919945 Cavernous Hemangioma of Brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity 3 35
C0016506 Foot Deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 2 5
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 0
C1387925 Abnormality of limbs phenotype Anatomical Abnormality Abnormality of limbs 2 1
C1849930 Persistent Mullerian duct syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality disease of anatomical entity 2 15
C2717759 Degenerative Intervertebral Discs disease Musculoskeletal Diseases Anatomical Abnormality 2 0
C3550704 Abnormality of digit phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 9
C4018871 Abnormality of the respiratory system disease Anatomical Abnormality Abnormality of the respiratory system 2 0
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 2 7
C4021812 Abnormality of the head disease Anatomical Abnormality Abnormality of head or neck 2 0
C0009918 Contracture of joint disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 0
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 1 38
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 1 19
C0019326 Ventral Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Abnormality of connective tissue 1 0
C0022906 Lacrimal Duct Obstruction disease Eye Diseases Anatomical Abnormality disease of anatomical entity Abnormality of head or neck 1 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 0
C0040588 Tracheoesophageal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality Abnormality of the digestive system; Abnormality of the respiratory system 1 0
C0152237 Talipes Calcaneovalgus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 1 0
C0333099 Fusiform Aneurysm disease Cardiovascular Diseases Anatomical Abnormality 1 0
C0341059 Lip pit disease Anatomical Abnormality Abnormality of the integument; Abnormality of head or neck 1 0
C0344487 Lateral meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality genetic disease 1 0
C0398368 Lymphatic Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 1 0
C1450010 Plagiocephaly, Nonsynostotic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 0
C1704317 Leukokeratosis disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality Abnormality of head or neck 1 0
C1857690 Pulmonary arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 1 1