Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1409792 Coronary sinus defect disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C2673610 JEB-I disease Disease or Syndrome genetic disease; disease of anatomical entity 4
C2910126 Patent or persistent ostium secundum defect (type II) disease Disease or Syndrome genetic disease; disease of anatomical entity 4
C2910127 Patent or persistent sinus venosus defect disease Disease or Syndrome genetic disease; disease of anatomical entity 4
C3536741 Discordant ventriculoarterial connection disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C0311251 Simple buphthalmos disease Congenital Abnormality genetic disease; disease of anatomical entity 3
C0344692 Isomerism of atrial appendages disease Congenital Abnormality genetic disease; physical disorder 3
C1876172 VAH, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; physical disorder 3
C2875058 Familial torsion dystonia disease Disease or Syndrome genetic disease; disease of anatomical entity 3
C2910124 Isomerism of atrial appendages with asplenia or polysplenia disease Congenital Abnormality genetic disease; physical disorder 3
C3150942 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE disease Disease or Syndrome disease of anatomical entity 3
C3280526 ARTHROGRYPOSIS, DISTAL, TYPE 1B disease Disease or Syndrome disease of anatomical entity 3
C3554415 Distal arthrogryposis type 5D disease Disease or Syndrome disease of anatomical entity 3
C4083048 SPONDYLOCOSTAL DYSOSTOSIS 5 disease Disease or Syndrome disease of anatomical entity 3
C4746745 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease 3
C0271093 Stargardt's disease phenotype Disease or Syndrome genetic disease; disease of anatomical entity 2
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 2
C0431692 Bilateral renal hypoplasia disease Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the genitourinary system 2
C0432066 Congenital malformation syndromes affecting facial appearance disease Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 2
C0477362 Other specified extrapyramidal and movement disorders disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C0477506 Other specified nonscarring hair loss disease Disease or Syndrome genetic disease; disease of anatomical entity 2
C0477971 Other reduction deformities of brain disease Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder 2
C0478007 Other malformations of cerebral vessels disease Congenital Abnormality disease of anatomical entity 2
C0478099 Other deletions of part of a chromosome disease Congenital Abnormality genetic disease 2
C0796221 MENTAL RETARDATION, X-LINKED 15 disease Disease or Syndrome genetic disease; disease of mental health 2