Source: ANIMAL_MODELS

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4329210 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C3665382 2,8-Dihydroxyadenine Urolithiasis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1
C0574084 3-Methylglutaconic aciduria type 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0265425 9p partial monosomy syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease 1
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 1
C0432333 Abnormal dermatoglyphic pattern disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the integument 1
C0221199 Abnormal palmar creases disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the integument; Abnormality of limbs 1
C0271749 Abnormality of cortisol-binding globulin disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1
C1861923 Acampomelic Campomelic Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0000880 Acanthamoeba Keratitis disease Infections; Eye Diseases Disease or Syndrome 1
C0234238 Ache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1
C0265559 Acheiropodia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0265273 Achondrogenesis type 1A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0220685 Achondrogenesis type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0152200 Achromatopsia disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 1
C1857618 Achromatopsia 2 disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 1
C1849792 Achromatopsia 3 disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1841721 ACHROMATOPSIA 4 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 1
C1719382 Acquired torsion dystonia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0917990 Acro-Osteolysis disease Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of limbs; Abnormality of the skeletal system 1
C0796147 Acrocallosal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome syndrome 1