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
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
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
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 472
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
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
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 363
C3806482 Recurrent respiratory infections phenotype Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 314
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 234
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C0034012 Delayed Puberty phenotype Endocrine System Diseases Pathologic Function Abnormality of the endocrine system; Growth abnormality 190
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 157
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 155
C0265610 Clinodactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 148
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 142
C2267233 Neonatal Hypotonia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 138
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 130
C0271623 Hypogonadotropic hypogonadism disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 125