Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1848392 Zunich neuroectodermal syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 4
C2931488 Zlotogora-Ogur syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease 1 3
C1842486 Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1
C4225321 ZIMMERMANN-LABAND SYNDROME 2 disease Disease or Syndrome 1 2
C4551773 ZIMMERMANN-LABAND SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 7
C4310696 Zhu-Tokita-Takenouchi-Kim syndrome phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 20
C2931299 ZAP70 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 5
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 5
C1863557 Young Simpson syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome syndrome 1 13
C4275179 Young onset Parkinson disease disease Nervous System Diseases Disease or Syndrome 1 1
C4310778 YOU-HOOVER-FONG SYNDROME disease Disease or Syndrome 1 6
C1863008 Yellow-brown discoloration of the teeth phenotype Finding Abnormality of head or neck 1 2
C4310620 Yao syndrome disease Disease or Syndrome 1 3
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 3
C0043352 Xerostomia disease Stomatognathic Diseases Finding Abnormality of head or neck 2 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 2 13
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 2 3
C3806565 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME disease Disease or Syndrome genetic disease 1 3
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 2 10
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 4
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 8
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 2 45
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 4
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 13
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 58