CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 19
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 185
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 89
C0853087 Nail abnormality phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the integument 56
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 26
C4476540 Dilatation of the cerebral artery phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality Abnormality of the nervous system; Abnormality of the cardiovascular system 25
C1861329 Spinal canal stenosis disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 23
C4021822 Abnormality of female external genitalia disease Anatomical Abnormality Abnormality of the genitourinary system 15
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
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 582
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 285
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 246
C0020608 Hypodontia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 179
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 164
C0399526 Class III malocclusion disease Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 144
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 109
C0025995 Micromelia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 102
C1860614 ULNAR HYPOPLASIA phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 50
C0266061 Open Bite phenotype Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 36
C0685381 Congenital hypoplasia of radius disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 35
C0265563 Congenital dislocation of radial head disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 25
C0264142 Spade-like hand disease Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 24
C0006281 Congenital bronchogenic cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 4