Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 3 32
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 2 799
C0206728 Plexiform Neurofibroma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Abnormality of the nervous system; Neoplasm 1 4
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 0 6385
C1860335 Axillary freckling phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 0 12
C1834297 Inguinal freckling phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 0 7
C1860334 Lisch nodules phenotype Finding Neoplasm; Abnormality of head or neck; Abnormality of the eye 0 5
C0206716 Ganglioglioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 0 2