Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0220687 KBG syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 1
C0265354 CHARGE Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome syndrome 1
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 1
C0795833 KLEEFSTRA SYNDROME 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome syndrome 1
C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome syndrome 1
C3281235 BARAITSER-WINTER SYNDROME 2 disease Disease or Syndrome syndrome 1
C0265338 Coffin-Siris syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome; disease of mental health 2
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 19
C1568247 Usher Syndrome, Type I disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5
C1848638 USHER SYNDROME, TYPE IB (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5
C1848639 USHER SYNDROME, TYPE IA, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C0043207 Wolfram Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 2
C0162361 Hidrotic Ectodermal Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the integument 1
C0175695 Sotos' syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; syndrome 1
C0282529 Chondrodysplasia Punctata, Rhizomelic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; syndrome 1
C0339534 Usher syndrome type 2 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C0795864 Smith-Magenis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; syndrome 1
C1568248 Usher Syndrome, Type III disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C1568249 Usher Syndrome, Type II disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C1850343 Mosaic variegated aneuploidy syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; syndrome 1
C1856113 Mowat-Wilson syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome 1
C1970431 PITT-HOPKINS SYNDROME disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome 1
C2931213 Usher syndrome, type 2C disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C3279843 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 disease Disease or Syndrome genetic disease; syndrome 1