Source: INFERRED

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 1458
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
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
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
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
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
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 496
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 459
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 381
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C0432072 Dysmorphic features disease Congenital Abnormality 335
C1861403 Variable expressivity phenotype Finding 319
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 318
C3806482 Recurrent respiratory infections phenotype Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 318
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306