Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 246
C1859126 Stippled epiphyses phenotype Finding genetic disease; syndrome Abnormality of the skeletal system 28
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 18
C0033806 Pseudohypoparathyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 6
C0027859 Acoustic Neuroma disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm; Abnormality of the ear 3
C4316812 Fibrinogen Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 34
C0010308 Congenital Hypothyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the endocrine system 23
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 315
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 182
C0085681 Hyperphosphatemia (disorder) disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 18
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
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 300
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 255
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 163
C0033975 Psychotic Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 70
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17
C0030297 Pancreatic Neoplasm disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 38
C0032000 Pituitary Adenoma disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 25
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 17
C0262587 Parathyroid Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 16
C0151468 Thyroid Gland Follicular Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 15