Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1834421 Myxoid subcutaneous tumors disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process Abnormality of the integument; Neoplasm 1
C4021623 Neonatal epiphyseal stippling phenotype Finding Abnormality of the skeletal system 1
C4025002 Pulmonic valve myxoma disease Neoplastic Process Abnormality of the cardiovascular system 1
C1969546 Thyroid follicular hyperplasia phenotype Finding Abnormality of the endocrine system 1
C1960546 Myxoma of heart disease Neoplasms; Cardiovascular Diseases Neoplastic Process Neoplasm; Abnormality of the cardiovascular system 2
C0262929 Myxoma of the Endocardium disease Neoplasms Neoplastic Process 2
C0206736 Nevus, Blue disease Neoplasms Neoplastic Process 2
C4024276 Peripheral Schwannoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process Abnormality of the integument; Abnormality of the nervous system; Neoplasm 2
C1859882 Pigmentation of the sclera phenotype Finding Abnormality of the eye 2
C1834424 Profuse pigmented skin lesions phenotype Finding Abnormality of the integument 2
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
C0029423 Cartilaginous exostosis disease Neoplasms; Musculoskeletal Diseases Neoplastic Process Neoplasm; Abnormality of the skeletal system 3
C4024667 Congenital craniofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 3
C1509147 Histiocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 3
C4021651 Hypoplasia of the nasal bone phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 3
C1968855 Paradoxical increased cortisol secretion on dexamethasone suppression test phenotype Finding Abnormality of the endocrine system 3
C4020704 Sertoli cell neoplasm disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process Abnormality of the genitourinary system; Neoplasm 3
C0006281 Congenital bronchogenic cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 4
C4025693 Hypertension associated with pheochromocytoma disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4
C1968851 Pigmented micronodular adrenocortical disease phenotype Finding Abnormality of the endocrine system 4
C4025760 Primary hypercortisolism disease Disease or Syndrome Abnormality of the endocrine system 4
C0014121 Bacterial Endocarditis disease Infections; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the cardiovascular system 5
C0027809 Neurilemmoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 5
C4023574 Abnormality of circulating adrenocorticotropin level phenotype Finding Abnormality of the endocrine system 6
C1856639 Absent/hypoplastic paranasal sinuses phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 6