Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) phenotype Finding 12
C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) disease Finding 10
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 9
C1859047 CYSTIC FIBROSIS MODIFIER 1 disease Disease or Syndrome 4
C2931245 Bone Marrow failure syndromes disease Disease or Syndrome 4
C3808553 Bone marrow failure syndrome 1 disease Disease or Syndrome 4
C3810350 Bone marrow failure syndrome 2 disease Disease or Syndrome 4
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 3
C2750088 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO disease Finding 3
C3150902 C1q DEFICIENCY disease Disease or Syndrome 3
C3887485 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 phenotype Finding disease of anatomical entity 3
C0271093 Stargardt's disease phenotype Disease or Syndrome genetic disease; disease of anatomical entity 2
C0339539 Familial Exudative Vitreoretinopathy disease Congenital Abnormality disease of anatomical entity 2
C1847529 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 phenotype Finding 2
C1847530 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 phenotype Finding 2
C1847730 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) phenotype Finding 2
C1855465 STARGARDT DISEASE 1 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C2936913 Porphyria, South African type disease Disease or Syndrome genetic disease; disease of metabolism 2
C3150968 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 disease Disease or Syndrome 2
C3278404 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS disease Disease or Syndrome genetic disease 2
C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 disease Disease or Syndrome genetic disease; disease of metabolism 2
C3714580 Hypokalemic periodic paralysis type 1 disease Disease or Syndrome genetic disease; disease of metabolism 2
C3809653 MACULAR DEGENERATION, AGE-RELATED, 14 disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C4282180 Juvenile macular degeneration disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C4551995 Mitochondrial DNA Depletion Syndrome 1 disease Disease or Syndrome genetic disease; disease of metabolism 2