Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0033141 Cardiomyopathies, Primary group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0587248 Costello syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 1
C4016398 COSTELLO SYNDROME, SEVERE disease Finding 1
C3277679 EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC disease Neoplastic Process 1
C1968782 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C4225657 NEVUS SPILUS, SOMATIC phenotype Finding 1
C3808548 Poor respiratory effort phenotype Finding 1
C4225656 SPITZ NEVUS, SOMATIC disease Neoplastic Process 1
C0343114 Woolly hair nevus disease Neoplastic Process disease of anatomical entity 1
C0343643 Facial wart disease Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Neoplasm; Abnormality of head or neck 2
C0024214 Lymphangiectasis disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 2
C0346099 Nevus spilus disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument 2
C0334517 Spermatocytic seminoma disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2
C0919997 Thickened Achilles tendon disease Finding Abnormality of limbs; Abnormality of the skeletal system 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
C3278024 Enlarged cerebellum phenotype Finding Abnormality of the nervous system 3
C1842036 GIANT PIGMENTED HAIRY NEVUS disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument 3
C3854181 Nevus sebaceous disease Neoplasms Neoplastic Process disease of anatomical entity; syndrome Abnormality of the integument 3
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 3
C0265329 Organoid Nevus Phakomatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome 3
C3277753 Deep-set nails phenotype Finding Abnormality of the integument 5
C2749369 Prominence of the premaxilla phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 5
C2674738 Abnormality of toe group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 6
C4022025 Asymmetric growth phenotype Finding Growth abnormality 6
C1860991 NOONAN SYNDROME 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 6