Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1346
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 887
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
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 582
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 566
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 555
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
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 496
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 476
C4553743 Spasticity, CTCAE phenotype Finding 476
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 431
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 407
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 323
C1861403 Variable expressivity phenotype Finding 319
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 300
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 299
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299