Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1857781 Diaphragmatic Hernia 3 disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity 1 2
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 12
C1859399 Radial bowing phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C2315229 Deformity of facial bone disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 0
C2748545 QUESTION MARK EARS, ISOLATED disease Anatomical Abnormality 1 2
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 11
C3494423 Maxillary Retroposition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0
C3494424 Maxillary Retrusion disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0
C3494425 Mandibular Retroposition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0
C3494426 Mandibular Retrusion disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1 0
C4020869 Abnormality of abdomen morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality Abnormality of the digestive system 1 0
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 1 131
C4021664 Abnormality of the abdominal wall disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality Abnormality of the digestive system 1 0
C4021762 Abnormality of the cerebrum disease Anatomical Abnormality Abnormality of the nervous system 1 0
C4025845 Abnormality iris morphology disease Anatomical Abnormality Abnormality of the eye 1 0
C4025874 Abnormality of skull size phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 0
C0016049 Fibromatosis, Gingival disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality disease of anatomical entity Neoplasm; Abnormality of head or neck 0 1
C0018536 Hallux Valgus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 6
C0019270 Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of connective tissue 0 1
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 0 6
C0158113 Contracture of joint of hand disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 5
C0234649 Abnormal saccadic eye movement disease Anatomical Abnormality Abnormality of the eye 0 1
C0238093 Stenosis of duodenum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system 0 1
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 0 2
C0238441 Subglottic stenosis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 0 2