Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0271987 ^A^gamma delta beta^0^ thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 0
C0477611 [X]Spinal osteochondrosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome 1 0
C0947785 [D]Sleep disturbances (& [hypersomnia] or [insomnia]) phenotype Sign or Symptom 69 23
C0043541 Zygomycosis disease Infections Disease or Syndrome 9 0
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 1
C0276883 Zoonotic form of cutaneous leishmaniasis disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 6 0
C0043528 Zoonoses disease Infections; Animal Diseases Disease or Syndrome 19 0
C0043515 Zollinger-Ellison syndrome disease Digestive System Diseases; Neoplasms Disease or Syndrome syndrome Abnormality of the digestive system; Neoplasm 13 0
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 5 2
C1842486 Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2
C0235950 Zinc deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 89 4
C4225321 ZIMMERMANN-LABAND SYNDROME 2 disease Disease or Syndrome 1 0
C0796013 Zimmerman Laband syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 0
C0276289 Zika Virus Infection disease Infections Disease or Syndrome disease by infectious agent 192 1
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 0
C0085232 Zenker Diverticulum disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 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 34 1
C4687396 Zellweger Spectrum Disorder disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 1
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 16 1
C0270969 Zebra body myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0
C2931299 ZAP70 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 0
C2931297 Yusho Disease disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0
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 3 0
C0340037 Young Syndrome disease Infections; Male Urogenital Diseases; Respiratory Tract Diseases 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 2 0