Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0043459 Zellweger Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C1857663 Yunis Varon syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 1
C1970416 XFE Progeroid Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; syndrome 1
C1848410 Xeroderma pigmentosum, variant type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C1968561 Xeroderma Pigmentosum, Type G-Cockayne Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C3806565 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME disease Disease or Syndrome genetic disease 1
C0268141 Xeroderma pigmentosum, group G disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268140 Xeroderma pigmentosum, group F disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 1
C0268136 Xeroderma pigmentosum, group B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268135 Xeroderma pigmentosum, group A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C1848411 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality genetic disease 1
C0268138 Xeroderma Pigmentosum, Complementation Group D disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality genetic disease 1
C1970808 Xeroderma Pigmentosum B-Cockayne Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C0043346 Xeroderma Pigmentosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 9
C0549463 X-Linked Lymphoproliferative Disorder disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process genetic disease; disease of anatomical entity 1
C4707825 X-linked cleft palate and ankyloglossia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality genetic disease; syndrome; physical disorder 1
C0221026 X-linked agammaglobulinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0043208 Wolman Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C1858028 WOLFRAM SYNDROME 2 disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C4551693 Wolfram Syndrome 1 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 1
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 1
C0043202 Wolff-Parkinson-White Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; syndrome Abnormality of the cardiovascular system 1
C1956097 Wolf-Hirschhorn Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 2