Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4024733 Abnormality of the fifth metatarsal bone disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C1862136 Abnormality of the tarsal bones phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1844516 Increased density of long bone diaphyses phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1866737 Lateral femoral bowing phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C4025087 Long phalanx of finger disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C1844712 Nonossified fifth metatarsal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1844519 Partial fusion of carpals phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1844520 Partial fusion of tarsals phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 1
C4023288 Short chordae tendineae of the mitral valve disease Anatomical Abnormality Abnormality of the cardiovascular system 1
C4025001 Short chordae tendineae of the tricuspid valve disease Anatomical Abnormality Abnormality of the cardiovascular system 1
C4038738 Steep mandibular plane angle phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 1
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
C1844702 Vertical clivus phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 1
C4021244 Abnormal hand bone ossification phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 2
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
C1839822 Anterior concavity of thoracic vertebrae phenotype Finding Abnormality of the skeletal system 2
C1844512 Anteriorly placed odontoid process phenotype Finding Abnormality of the skeletal system 2
C1835574 Bipartite calcaneus phenotype Finding 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
C4025010 Coat hanger sign of ribs disease Anatomical Abnormality Abnormality of the skeletal system 2
C1839830 Frontal hirsutism phenotype Finding Abnormality of the integument; Abnormality of head or neck 2
C4280644 Increased size of the mandible phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 2
C4025086 Irregular metacarpals disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C1839512 Limited knee flexion phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2