Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0265309 Leri-Weill dyschondrosteosis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 10 9
C0432230 Langer Mesomelic Dysplasia Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 4
C0265222 Royer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0
C1386091 Acromicria disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 13 0
C2987120 Intramucosal Adenocarcinoma disease Neoplasms Neoplastic Process 15 0
C0008039 Cheyne-Stokes Respiration phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 16 0
C1857632 Narrow palm phenotype Finding Abnormality of limbs 17 0
C0265287 Acromicric Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 21 31
C0311277 Obesity, Abdominal phenotype Nutritional and Metabolic Diseases Finding Growth abnormality 21 0
C0556280 Gross motor impairment phenotype Finding Abnormality of the nervous system 22 2
C1849923 Generalized hypopigmentation phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 23 1
C3203358 Hypoventilation phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 28 2
C0345964 Adenoma of lung disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 30 3
C1849295 Hypoplastic labia minora phenotype Finding Abnormality of the genitourinary system 30 1
C1844527 Clitoral hypoplasia phenotype Finding Abnormality of the genitourinary system 30 0
C4551492 Micropenis disease Congenital Abnormality Abnormality of the genitourinary system 32 21
C0432475 XX males disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0
C0028949 Oligomenorrhea phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system 37 1
C0272302 Gray Platelet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 38 14
C4024780 Almond-shaped palpebral fissure phenotype Finding Abnormality of head or neck 40 1
C1837522 Impaired pain sensation phenotype Finding Abnormality of the nervous system 41 4
C1519678 Tumor Expansion phenotype Neoplastic Process 46 0
C4551564 Narrow nasal bridge phenotype Finding Abnormality of head or neck 47 2
C0431659 Hypoplasia of scrotum phenotype Congenital Abnormality Abnormality of the genitourinary system 57 3
C0280280 stage, prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 58 5