Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
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
C1839269 Duplication of renal pelvis phenotype Finding Abnormality of the genitourinary system 3 0
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
C1845977 X- linked recessive phenotype Finding 172 1
C0426421 Wide nose phenotype Finding Abnormality of head or neck 87 1
C3279947 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 disease Disease or Syndrome disease of anatomical entity 77 1
C1856749 Aplastic/hypoplastic toenail phenotype Finding Abnormality of the integument 23 1
C0221766 Diastasis recti disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the digestive system; Abnormality of the musculature 22 1
C0206641 Osteochondromatosis disease Neoplasms; Musculoskeletal Diseases Neoplastic Process genetic disease; disease of anatomical entity 10 1
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 115 2
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
C0005941 Bone Diseases, Developmental group Musculoskeletal Diseases Disease or Syndrome 82 2
C1834405 Nail dysplasia disease Pathological Conditions, Signs and Symptoms Congenital Abnormality Abnormality of the integument 78 2
C0521620 Dilatation of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 72 2
C3278509 Spinal fusion disease Anatomical Abnormality Abnormality of the skeletal system 67 2
C0542518 Enlarged kidney phenotype Finding Abnormality of the genitourinary system 27 2
C1856660 Abnormality of the helix phenotype Finding Abnormality of the ear 21 2
C1865038 Broad toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 2