Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 15
C0033793 Pseudocoloboma phenotype Acquired Abnormality 1
C0158489 Acquired clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 1
C0235259 Subcapsular cataract disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the eye 1
C2880562 Age-related cortical cataract disease Acquired Abnormality Abnormality of the eye 1
C1862190 BLOOD GROUP--WRIGHT ANTIGEN phenotype Amino Acid, Peptide, or Protein; Immunologic Factor 1
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
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
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 8
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 7
C4021817 Abnormality of head or neck phenotype Anatomical Abnormality Abnormality of head or neck 5
C0018564 Hand deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 3
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
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 2
C0016506 Foot Deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 2
C1387925 Abnormality of limbs phenotype Anatomical Abnormality Abnormality of limbs 2
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 2
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
C3550704 Abnormality of digit phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4018871 Abnormality of the respiratory system disease Anatomical Abnormality Abnormality of the respiratory system 2
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 2
C4021812 Abnormality of the head disease Anatomical Abnormality Abnormality of head or neck 2
C0009918 Contracture of joint disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 1