Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 13 13
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 10 14
C0409345 Flexion contracture - wrist disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 4 4
C0409354 Flexion contracture of hip disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 3 5
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 2 6
C0264162 Camptocormia disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the skeletal system 2 2
C1446712 Overlapping fingers disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 2
C0041960 Ureterocele disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 1 1
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C0235259 Subcapsular cataract disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the eye 1 1
C0332790 Osseous ankylosis disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system 1 1
C0409336 Flexion contracture-shoulder disease Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 1
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 1 1
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 2
C0442887 Septal hypertrophy disease Acquired Abnormality 1 1
C1862190 BLOOD GROUP--WRIGHT ANTIGEN phenotype Amino Acid, Peptide, or Protein; Immunologic Factor 1 2
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 30 38
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 13 15
C0920299 Overriding toe disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 13 13
C1328407 Hip Dysplasia disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12 13
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14
C4021866 obsolete Abnormal heart morphology phenotype Anatomical Abnormality 12 13
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 11 11