Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1845977 X- linked recessive phenotype Finding 172 1
C0426421 Wide nose phenotype Finding Abnormality of head or neck 87 1
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 426 87
C0431904 Ulnar polydactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 92 11
C1839285 Two carpal ossification centers present at birth phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 0
C0040761 Transposition of Great Vessels disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 61 18
C1846423 Thick upper lip vermilion phenotype Finding Abnormality of head or neck 16 4
C0039538 Teratoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 171 8
C1839767 Tented upper lip vermilion phenotype Finding Abnormality of head or neck 79 8
C0241240 Tall stature phenotype Finding Growth abnormality 79 14
C4551838 Talipes transversoplanus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0
C0265660 Syndactyly of the toes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 129 11
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 171 12
C1839277 Submucous cleft lip phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 2 0
C0699791 Stomach Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3720 652
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 345 19
C3278509 Spinal fusion disease Anatomical Abnormality Abnormality of the skeletal system 67 2
C0037822 Speech Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system 183 7
C0264142 Spade-like hand disease Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 24 0
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C1839279 Six lumbar vertebrae phenotype Finding Abnormality of the skeletal system 2 0
C0796154 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome genetic disease 44 12
C4317043 Simpson-Golabi-Behmel syndrome phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0
C0432055 Simple syndactyly of fingers - first web disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 9 0
C0268800 Simple renal cyst disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 100 2