Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 410 0
C0041956 Ureteral obstruction phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 359 0
C1969372 Tubulointerstitial fibrosis phenotype Disease or Syndrome Abnormality of the genitourinary system 328 0
C0039103 Synovitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 197 0
C0235989 Renal interstitial fibrosis disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 138 0
C0576226 Short foot phenotype Finding 116 0
C1853237 Isolated cases phenotype Finding 111 0
C0399440 Hereditary gingival fibromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Neoplasm; Abnormality of head or neck 86 0
C1519678 Tumor Expansion phenotype Neoplastic Process 46 0
C0432475 XX males disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0
C1844527 Clitoral hypoplasia phenotype Finding Abnormality of the genitourinary system 30 0
C0311277 Obesity, Abdominal phenotype Nutritional and Metabolic Diseases Finding Growth abnormality 21 0
C1857632 Narrow palm phenotype Finding Abnormality of limbs 17 0
C0008039 Cheyne-Stokes Respiration phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 16 0
C2987120 Intramucosal Adenocarcinoma disease Neoplasms Neoplastic Process 15 0
C1386091 Acromicria disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 13 0
C0265222 Royer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0
C4020969 Inflammatory abnormality of the eye disease Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 88 1
C0265101 Carotid artery occlusion phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 74 1
C0027668 Neoplasms, Vascular Tissue group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 67 1
C0403592 Chronic rejection of renal transplant disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 1
C4024780 Almond-shaped palpebral fissure phenotype Finding Abnormality of head or neck 40 1
C0028949 Oligomenorrhea phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system 37 1
C1849295 Hypoplastic labia minora phenotype Finding Abnormality of the genitourinary system 30 1