Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 81
C0424448 Mask-like facies phenotype Nervous System Diseases Finding Abnormality of head or neck 63
C0432103 Submucous cleft of hard palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of head or neck 49
C0332615 Myopathic facies phenotype Finding Abnormality of head or neck 34
C1839798 Long nose phenotype Finding Abnormality of head or neck 28
C4317152 Dimple chin phenotype Anatomical Abnormality Abnormality of head or neck 14
C1855353 Fixed facial expression phenotype Finding Abnormality of head or neck 2
C1862474 Decreased facial expression phenotype Finding Abnormality of head or neck; Abnormality of the musculature 3
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
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 275
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 178
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
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 229
C1301937 Talipes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 70
C1837835 Bilateral talipes equinovarus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of limbs 11
C4048199 Ulnar deviation of the hand or of fingers of the hand phenotype Finding Abnormality of limbs 11
C1836296 Muscle Weakness Lower Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 62
C1698196 Muscle Weakness Upper Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 26
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 260
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 165
C0265610 Clinodactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 148
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 130
C1328407 Hip Dysplasia disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 105
C0158761 Radioulnar Synostosis 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 62