Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4082304 Oligodontia disease Congenital Abnormality disease of anatomical entity Abnormality of head or neck 12
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 11
C4510744 46,XY partial gonadal dysgenesis disease Disease or Syndrome 11
C0268363 Osteogenesis imperfecta type IV (disorder) disease Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 10
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10
C1167664 Situs ambiguous disease Congenital Abnormality 9
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 9
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 9
C1701939 Familial pulmonary arterial hypertension disease Disease or Syndrome 8
C1855681 Nephronophthisis, familial juvenile disease Disease or Syndrome 7
C4757950 Isolated ATP synthase deficiency disease Disease or Syndrome genetic disease; disease of metabolism 7
C1838604 EPILEPSY, CHILDHOOD ABSENCE, 1 disease Disease or Syndrome 6
C3854603 FNAITP disease Disease or Syndrome 6
C0271093 Stargardt's disease phenotype Disease or Syndrome genetic disease; disease of anatomical entity 5
C1855465 STARGARDT DISEASE 1 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 5
C3280742 SYSTEMIC LUPUS ERYTHEMATOSUS 16 disease Disease or Syndrome disease of anatomical entity 5
C4708599 Coloboma of choroid and retina disease Congenital Abnormality 5
C4304537 2p21 microdeletion syndrome disease Disease or Syndrome 4
C4304832 Primary pigmented nodular adrenocortical disease disease Disease or Syndrome disease of anatomical entity 4
C4755264 Severe intellectual disability and progressive spastic paraplegia disease Disease or Syndrome genetic disease; disease of anatomical entity 4
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 3
C0280321 Squamous cell carcinoma of the hypopharynx disease Neoplastic Process 3
C0555202 Malignant lymphoma - lymphocytic, intermediate differentiation disease Neoplastic Process 3
C0852283 Respiratory Distress Syndrome disease Disease or Syndrome 3
C0872218 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 3