Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2678399 Absent humerus phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C2678323 C2-C3 subluxation phenotype Finding Abnormality of the skeletal system 1
C1862415 Cervical segmentation defect phenotype Finding Abnormality of the skeletal system 1
C4025049 Distal tapering femur disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4021711 Epiphyseal stippling of the humerus phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4022506 Multinucleated giant chondrocytes in epiphyseal cartilage phenotype Finding Abnormality of the skeletal system 1
C4021953 Poorly ossified vertebrae phenotype Finding Abnormality of the skeletal system 1
C1862428 Thoracic platyspondyly phenotype Finding Abnormality of the skeletal system 1
C1862420 Tombstone-shaped proximal phalanges phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1862421 Widened distal phalanges phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C0265609 Accessory carpal bones disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; physical disorder Abnormality of limbs; Abnormality of the skeletal system 2
C1835574 Bipartite calcaneus phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C1968611 Club-shaped proximal femur phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C1861328 Hypoplastic nasal septum phenotype Finding Abnormality of head or neck 2
C1835573 Multiple carpal ossification centers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2
C3149908 Neonatal short-trunk short stature phenotype Finding Abnormality of the skeletal system; Growth abnormality 2
C4025795 Short tubular bones of the hand phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C1861217 Small foramen magnum phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 2
C4024595 Abnormal ossification involving the femoral head and neck phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C1859460 Bowed humerus phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C0575170 Cervical kyphosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 3
C1857505 Club-shaped distal femur phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C0431887 Hitch-hiker thumb disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C1850558 Horizontal sacrum phenotype Finding Abnormality of the skeletal system 3
C3806280 Laryngotracheal stenosis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding Abnormality of the respiratory system 3