Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0751751 Argininosuccinic Acid Synthetase Deficiency, Complete disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1
C0268547 Argininosuccinic Aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C1836906 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 2
C3809971 ASPARAGINE SYNTHETASE DEFICIENCY disease Disease or Syndrome 1
C0796206 Atkin syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 1
C1266184 Atypical Teratoid Rhabdoid Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1
C1852271 Auditory neuropathy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C2732267 Auditory neuropathy spectrum disorder disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C1832830 Auditory Neuropathy, Nonsyndromic Recessive phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1
C3281235 BARAITSER-WINTER SYNDROME 2 disease Disease or Syndrome syndrome 1
C1840333 Barakat syndrome disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 1
C1865270 BARTTER SYNDROME, TYPE 4A disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0004779 Basal Cell Nevus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process genetic disease 2
C0005129 Bernard-Soulier Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C0342738 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0220754 Biotinidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C4014584 BLEEDING DISORDER, PLATELET-TYPE, 18 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C0005859 Bloom Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome genetic disease 1
C0265339 Borjeson-Forssman-Lehmann syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of mental health 1
C3554078 BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY disease Disease or Syndrome genetic disease 1
C0265234 Branchio-Oto-Renal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 3
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24
C2676677 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 phenotype Finding 1