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
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 1258
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1192
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
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 602
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
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 558
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
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
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 526
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
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 472
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 464
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
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