Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0332790 Osseous ankylosis disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system 0 1
C0333189 Cicatricial stenosis phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 0 1
C0409336 Flexion contracture-shoulder disease Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 1
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 14
C0409345 Flexion contracture - wrist disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 4
C0409346 Contracture of joint of thumb disease Musculoskeletal Diseases Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 1
C0409354 Flexion contracture of hip disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 5
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 2
C0442887 Septal hypertrophy disease Acquired Abnormality 0 1
C1446712 Overlapping fingers disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 2
C1862190 BLOOD GROUP--WRIGHT ANTIGEN phenotype Amino Acid, Peptide, or Protein; Immunologic Factor 1 2
C3495676 Anorectal Malformations group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system 41 0
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 10 2
C4022810 Abnormality of nervous system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality Abnormality of the nervous system 10 0
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 8 13
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 7 29
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 5 0
C0021846 Intestinal Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Neoplasm 5 1
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 5 10
C1567435 Polycystic Kidney - body part disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 5 0
C4021817 Abnormality of head or neck phenotype Anatomical Abnormality Abnormality of head or neck 5 1
C0009376 Colonic Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 3 2
C0018564 Hand deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 3 2
C1389016 ATRIOVENTRICULAR CANAL DEFECT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3 1