CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1850627 Nasodigitoacoustic syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 6
C1839277 Submucous cleft lip phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 2 0
C1839279 Six lumbar vertebrae phenotype Finding Abnormality of the skeletal system 2 0
C1839285 Two carpal ossification centers present at birth phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 0
C1839269 Duplication of renal pelvis phenotype Finding Abnormality of the genitourinary system 3 0
C1839276 Broad secondary alveolar ridge phenotype Finding Abnormality of head or neck 4 0
C1866689 Short sacroiliac notch phenotype Finding Abnormality of the skeletal system 4 0
C4021326 Aplasia/Hypoplasia of the distal phalanges of the toes phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4 0
C1840307 Distal shortening of limbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 6 3
C1839271 Birth length greater than 97th percentile phenotype Finding Growth abnormality 6 2
C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome syndrome 7 5
C1850087 Narrow sacroiliac notch phenotype Finding Abnormality of the skeletal system 7 0
C1862142 Short 2nd finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7 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
C4021539 Posterior helix pit phenotype Finding Abnormality of the ear 9 0
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
C0206641 Osteochondromatosis disease Neoplasms; Musculoskeletal Diseases Neoplastic Process genetic disease; disease of anatomical entity 10 1
C1850630 Broad distal phalanx of finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 10 0
C1850629 Exaggerated cupid's bow phenotype Finding Abnormality of head or neck 11 6
C1865038 Broad toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 2
C0158779 Cervical rib disease Congenital Abnormality Abnormality of the skeletal system 11 0
C0006384 Bundle-Branch Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 12 0
C0597167 Islets of Langerhans hyperplasia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the digestive system; Abnormality of the endocrine system 12 0
C1856659 Polysplenia disease Congenital Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 15 0
C1846423 Thick upper lip vermilion phenotype Finding Abnormality of head or neck 16 4