Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C3151867 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED disease Disease or Syndrome physical disorder 29
C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C1408174 Hypertrophic neuropathy of infancy disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C1408182 Hereditary motor and sensory neuropathy, types I-IV disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C2875300 Peroneal muscular atrophy (axonal type) (hypertrophic type) disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C0869083 Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM disease Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder 14
C2875316 Myotubular (centronuclear) myopathy disease Congenital Abnormality genetic disease; disease of anatomical entity 9
C0342381 Idiopathic growth hormone deficiency disease Disease or Syndrome genetic disease; disease of anatomical entity 8
C2874188 Isolated deficiency of pituitary hormone disease Disease or Syndrome genetic disease; disease of anatomical entity 8
C2874189 Necrosis of pituitary gland (postpartum) phenotype Pathologic Function genetic disease; disease of anatomical entity 8
C2874190 Pituitary short stature disease Disease or Syndrome genetic disease; disease of anatomical entity 8
C2750440 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 disease Finding genetic disease; disease of metabolism 6
C2750441 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 phenotype Finding genetic disease; disease of metabolism 6
C2751052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 disease Disease or Syndrome genetic disease; disease of anatomical entity 6
C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 disease Disease or Syndrome genetic disease; disease of anatomical entity 6
C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 disease Disease or Syndrome genetic disease; disease of anatomical entity 6
C3150651 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 phenotype Finding genetic disease; disease of metabolism 6
C3809221 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 disease Disease or Syndrome genetic disease; disease of anatomical entity 6
C4015184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 disease Disease or Syndrome genetic disease; disease of anatomical entity 6
C2910340 Asphyxiating thoracic dysplasia [Jeune] disease Disease or Syndrome genetic disease 5
C3542025 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; disease of anatomical entity 5
C0477984 Other congenital malformations of anterior segment of eye disease Congenital Abnormality genetic disease; disease of anatomical entity 4
C0868847 Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM disease Congenital Abnormality genetic disease; disease of anatomical entity 4