Source: ALL

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 878 124
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 149 6
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 73 14
C0595995 Idiopathic scoliosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 46 17
C0155526 Cochlear otosclerosis disease Otorhinolaryngologic Diseases Acquired Abnormality 1 0
C0302142 Deformity group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26
C0039273 Talipes cavus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 213 2
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 128 10
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 56 29
C3839753 Abnormality of nail of toe phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the integument 26 0
C1305740 Overbite disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 13 5
C4025596 Abnormality of connective tissue disease Anatomical Abnormality Abnormality of connective tissue 4 3
C4021892 Absent fifth toenail phenotype Anatomical Abnormality Abnormality of the integument 3 2
C4025761 Abnormality of the integument disease Anatomical Abnormality Abnormality of the integument 3 1
C4021065 Fullness of paranasal tissue disease Anatomical Abnormality Abnormality of head or neck 2 2
C4023328 Abnormality of corneal stroma disease Anatomical Abnormality Abnormality of the eye 1 0
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
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 725 80
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 611 158
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 325 43
C0235833 Congenital diaphragmatic hernia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature 239 31
C0266470 Cerebellar Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality Abnormality of the nervous system 226 26