Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3150970 NOONAN SYNDROME 7 disease Disease or Syndrome genetic disease; syndrome 1 8
C3150971 LEOPARD SYNDROME 3 disease Disease or Syndrome genetic disease 1 5
C0035290 Reticulohistiocytic granuloma disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity 1 2
C0302323 Reticulohistiocytosis disease Neoplastic Process 1 2
C0349533 Lymphoma of intestine disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 2
C0848860 endocrine carcinoma disease Neoplastic Process 1 2
C0854923 Mucinous endometrial carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 2
C1266111 Glomus tumor, malignant disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 2
C1266112 Diffuse melanocytosis disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 2
C1304321 Eruptive melanocytic nevi disease Neoplastic Process 1 2
C1334720 Metastatic Malignant Peripheral Nerve Sheath Tumor disease Neoplasms; Nervous System Diseases Neoplastic Process 1 2
C3897746 recurrent childhood pilocytic astrocytoma disease Neoplastic Process 1 2
C4526729 Refractory Erdheim-Chester Disease disease Hemic and Lymphatic Diseases Neoplastic Process 1 2
C0521579 Congenital strabismus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 1 1
C0578682 Madarosis of eyebrow disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of head or neck 1 1
C1847874 PHACE association disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1
C1857534 Postnatal onset growth deficiency phenotype Finding 1 1
C2674727 ASTROCYTOMA, LOW-GRADE, SOMATIC disease Finding 1 1
C0009761 Conjunctival Neoplasms group Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0
C0162504 Neutrophilic Eccrine Hidradenitis disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0
C0278600 Childhood Brain Stem Glioma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0
C0742965 Eosinophilic cystitis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 1 0
C0743086 Granulomatous dermatitis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 1 0
C1263887 Neoplasm of temporal lobe disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0
C1266141 Nephrogenic adenofibroma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 0