Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4025617 Atlantoaxial abnormality phenotype Anatomical Abnormality Abnormality of the skeletal system 1
C1861693 Cervical Vertebral Dysplasia disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 1
C1837781 Increased subcutaneous truncal adipose tissue phenotype Finding Abnormality of the integument; Abnormality of connective tissue 1
C0406586 Wiedemann-Rautenstrauch syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1
C4022397 Congenital malformation of the left heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 2
C4476792 High myoinositol in brain by MRS phenotype Finding Abnormality of the nervous system 2
C1295643 Increased estradiol level phenotype Finding Abnormality of the endocrine system 2
C1868554 Irregular sclerotic endplates phenotype Finding Abnormality of the skeletal system 2
C2677109 Leukodystrophy, Hypomyelinating, 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C2676243 Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C1269700 Caliectasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 3
C1866206 Dysplastic pulmonary valve phenotype Finding Abnormality of the cardiovascular system 3
C4022680 Lagopthalmos disease Disease or Syndrome Abnormality of head or neck 3
C0205711 Pelizaeus-Merzbacher Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3
C1859449 Thin long bone diaphyses phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C4020718 Wide nasal ridge phenotype Finding Abnormality of head or neck 3
C4022551 Wide penis disease Anatomical Abnormality Abnormality of the genitourinary system 3
C4023607 Abnormal corpus striatum morphology phenotype Anatomical Abnormality Abnormality of the nervous system 5
C1836393 Abnormality of ocular smooth pursuit phenotype Finding Abnormality of the eye 5
C4025212 Autonomic bladder dysfunction disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 5
C4072885 Increased serum testosterone level phenotype Finding Abnormality of the endocrine system 5
C1837767 Loss of facial adipose tissue phenotype Finding Abnormality of head or neck; Abnormality of connective tissue 6
C1856542 Prominent scalp veins phenotype Finding Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system 6
C0039103 Synovitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 6
C4021585 Impaired distal proprioception phenotype Finding Abnormality of the nervous system 7