Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3887590 Stricture of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 10
C4021774 Camptodactyly of toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 9
C4021391 Broad phalanges of the hand disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C4021738 Abnormality of the pubic bone phenotype Anatomical Abnormality Abnormality of the skeletal system 4
C4021241 Abnormal foot bone ossification disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C4021335 Short distal phalanx of hallux disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4025010 Coat hanger sign of ribs disease Anatomical Abnormality Abnormality of the skeletal system 2
C4025086 Irregular metacarpals disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4025747 Bulbous tips of toes disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4021189 Underdeveloped superior crus of antihelix disease Anatomical Abnormality Abnormality of the ear 1
C4021253 Undulate clavicles disease Anatomical Abnormality Abnormality of the skeletal system 1
C4023288 Short chordae tendineae of the mitral valve disease Anatomical Abnormality Abnormality of the cardiovascular system 1
C4024733 Abnormality of the fifth metatarsal bone disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4025001 Short chordae tendineae of the tricuspid valve disease Anatomical Abnormality Abnormality of the cardiovascular system 1
C4025087 Long phalanx of finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
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
C0221354 Frontal bossing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 320
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 297
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 266