Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0221054 Welander Distal Myopathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 1
C0221182 Chordee disease Male Urogenital Diseases Congenital Abnormality disease of anatomical entity Abnormality of the genitourinary system 2 1
C0232769 Abnormal gallbladder function phenotype Finding Abnormality of the digestive system 2 1
C0235971 Elevated alpha-fetoprotein phenotype Finding Abnormality of metabolism/homeostasis 2 1
C0236033 Muscle hypertrophy phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Organ or Tissue Function disease of anatomical entity 2 1
C0238196 Small intestine carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 1
C0242855 Congenital atresia of pulmonary valve disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0265226 Hecht syndrome (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 1
C0265961 Erythrokeratodermia variabilis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 1
C0266368 Congenital absence of ovary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 2 1
C0266383 Uterine Anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 2 1
C0270968 Limb-girdle muscular dystrophy type 2H disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 2 1
C0271623 Hypogonadotropic hypogonadism disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 2 1
C0333641 Atrophic phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 1
C0344905 Left ventricular abnormality group Congenital Abnormality Abnormality of the cardiovascular system 2 1
C0426818 Thin rib phenotype Finding Abnormality of the skeletal system 2 1
C0426961 Dystonic posture phenotype Finding 2 1
C0428974 Supraventricular arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0473237 Frank hematuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2 1
C0494479 Other headache syndrome disease Disease or Syndrome 2 1
C0542035 Erythroid hypoplasia disease Disease or Syndrome Abnormality of blood and blood-forming tissues 2 1
C0542571 Facial edema disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of metabolism/homeostasis; Abnormality of head or neck 2 1
C0546817 Fluid overload disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 2 1
C0546878 Nodding spasm disease Nervous System Diseases Disease or Syndrome Abnormality of the eye 2 1
C0549463 X-Linked Lymphoproliferative Disorder disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process genetic disease; disease of anatomical entity 2 1