CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0262444 Abnormality of the dentition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding Abnormality of head or neck 13 16
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 13 16
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 11 11
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 9 12
C2132198 Abnormal blistering of the skin phenotype Finding Abnormality of the integument 4 10
C0221260 Dystrophia unguium disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 4 7
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 3 4
C0574769 Loss of scalp hair phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument; Abnormality of head or neck 3 4
C0008767 Cicatrization phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of connective tissue 2 3
C3806301 Scarring alopecia of scalp phenotype Finding Abnormality of the integument; Abnormality of head or neck; Abnormality of connective tissue 2 3
C0079474 Hallopeau-Siemens Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 40
C2673612 Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 4