Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
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
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
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
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 574
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 574
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 561
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 556
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 551
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 446
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 381