Source: CURATED

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 2
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 1 7
C0796013 Zimmerman Laband syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 0
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
C0751594 Zellweger-Like 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 13 0
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 16 0
C3658299 Zellweger Spectrum 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 13 0
C0270969 Zebra body myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0
C2931299 ZAP70 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 8
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 2 5
C4225255 YUAN-HAREL-LUPSKI SYNDROME disease Disease or Syndrome 1 0
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 0 1
C4310778 YOU-HOOVER-FONG SYNDROME disease Disease or Syndrome 1 6
C2931296 Yorifuji Okuno syndrome disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 0
C1866425 Yemenite deaf-blind hypopigmentation syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0
C1863008 Yellow-brown discoloration of the teeth phenotype Finding Abnormality of head or neck 0 2
C4310620 Yao syndrome disease Disease or Syndrome 1 3
C0085258 Yang Deficiency phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 0 1
C4750849 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0
C0432475 XX males disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0
C4310830 Xq25 TRIPLICATION SYNDROME disease Disease or Syndrome 1 0