Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4476523 Decreased projection of lower jaw phenotype Anatomical Abnormality 394
C4476524 Decreased projection of mandible phenotype Anatomical Abnormality 394
C1857130 Hypoplastic mandible condyle phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 394
C4476525 Retrusion of lower jaw phenotype Anatomical Abnormality 394
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 390
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 386
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 386
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 382
C0007758 Cerebellar Ataxia phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the nervous system 375
C1611184 Calcification of coronary artery phenotype Pathologic Function Abnormality of the cardiovascular system; Abnormality of the skeletal system 374
C1305855 Body mass index phenotype Clinical Attribute 369
C0578022 Finding of body mass index phenotype Finding 369
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the eye 367
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 365
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 341
C0202236 Triglycerides measurement phenotype Laboratory Procedure 335
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 332
C0019209 Hepatomegaly phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system 331
C1839764 Broad flat nasal bridge phenotype Finding Abnormality of head or neck 329
C0086543 Cataract disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 329
C1510497 Lens Opacities phenotype Eye Diseases Finding disease of anatomical entity Abnormality of the eye 329
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 325
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 323
C0005890 Body Height phenotype Organism Attribute 313
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 306