Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C0239676 High forehead phenotype Finding Abnormality of head or neck 205
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 185
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 175
C1857679 Sloping forehead phenotype Finding Abnormality of head or neck 146
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 145
C1839739 Thick lower lip vermilion phenotype Finding Abnormality of head or neck 143
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 135
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 120
C1835884 Triangular face phenotype Finding Abnormality of head or neck 105
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 65
C1858036 Periorbital fullness phenotype Finding Abnormality of head or neck 53
C1842060 Prominent supraorbital ridges phenotype Finding Abnormality of head or neck 35
C1857500 Broad alveolar ridges phenotype Finding Abnormality of head or neck 10
C3151495 Long upper lip phenotype Finding Abnormality of head or neck 5
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 550
C1866134 Wide anterior fontanel phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 68
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 262
C0426886 Tapering fingers (finding) phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 78
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 72
C4021608 Shortening of all distal phalanges of the fingers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 40
C0239594 Short finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 36
C1844548 Hypoplastic finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 36
C0920299 Overriding toe disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 34