Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1259
C0349588 Short stature phenotype Finding Growth abnormality 1122
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 773
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 682
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 622
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
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 596
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 579
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 574