Source: INFERRED

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 561
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 252
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 208
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 189
C1184923 Lumbar hyperlordosis disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 67
C4021792 Abnormality of the clavicle disease Anatomical Abnormality Abnormality of the skeletal system 42
C4021735 Abnormality of the hip bone disease Anatomical Abnormality Abnormality of the skeletal system 40
C4025249 Abnormality of the intervertebral disk disease Anatomical Abnormality Abnormality of the skeletal system 30
C4021801 Lacrimation abnormality disease Anatomical Abnormality Abnormality of the eye 29
C4023116 Hypoplastic fifth toenail disease Anatomical Abnormality Abnormality of the integument 12
C4024682 Hypoplastic fifth fingernail disease Anatomical Abnormality Abnormality of the integument 11
C0585984 Laryngotracheomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 10
C4024507 Aplasia/Hypoplasia of the distal phalanx of the 5th finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10
C4021006 Short distal phalanx of the 5th toe phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 596
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 574
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 496
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 446
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 351
C0432072 Dysmorphic features disease Congenital Abnormality 335