Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1849667 Wide nasal base phenotype Finding Abnormality of head or neck 3 3
C4073145 Hyperkeratosis pilaris disease Disease or Syndrome Abnormality of the integument 3 3
C4073184 Thick hair phenotype Finding Abnormality of the integument 3 3
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 4 70
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7
C0027962 Melanocytic nevus disease Neoplasms Neoplastic Process Abnormality of the integument 4 6
C0004045 Asphyxia Neonatorum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 4 4
C0020437 Hypercalcemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 4 4
C0238463 Papillary thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 4 4
C1843300 Sparse eyelashes phenotype Finding Abnormality of the integument; Abnormality of head or neck 4 4
C0023473 Myeloid Leukemia, Chronic disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 5 26
C0553721 Diminished sweating phenotype Skin and Connective Tissue Diseases; Nervous System Diseases Finding Abnormality of the integument 5 7
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 5 5
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 6 25
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 12
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 6 9
C1832446 Sparse eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 6 6
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 6 6
C0238198 Gastrointestinal Stromal Tumors group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 7 124
C0206686 Adrenocortical carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 7 34
C1858091 Long fingers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7 6
C1837770 Sparse hair phenotype Finding Abnormality of the integument 8 9
C0578038 Thin lips phenotype Finding Abnormality of head or neck 8 8
C3150613 Long toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 8 8
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8