Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 1
C1846331 Juvenile-onset dystonia disease Nervous System Diseases Disease or Syndrome 1
C1846339 Externally rotated hips phenotype Finding Abnormality of limbs 2
C0029429 Osteochondrosis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 4
C4021370 Duplication of thumb phalanx disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5
C0152439 Retinoschisis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 5
C4022153 Cerebral cortical hemiatrophy disease Disease or Syndrome Abnormality of the nervous system 6
C1623258 Electrocardiography phenotype Diagnostic Procedure 8
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 8
C1303001 Congenital euryblepharon disease Congenital Abnormality Abnormality of head or neck 9
C4022024 Upper limb asymmetry disease Anatomical Abnormality Abnormality of limbs; Growth abnormality 9
C1848954 Generalized dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11
C0345397 Accessory rib disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the skeletal system 12
C0018552 Hamartoma disease Neoplasms Neoplastic Process Neoplasm 12
C1847766 Shoulder girdle muscle atrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 12
C4025895 Abnormality of the scrotum disease Anatomical Abnormality Abnormality of the genitourinary system 13
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 13
C4023911 Aplasia/Hypoplasia of the breasts phenotype Finding Abnormality of the breast 16
C0423318 Heterochromia iridis phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding Abnormality of the eye 17
C1846434 Hypoplastic scapulae phenotype Finding Abnormality of the skeletal system 18
C1857479 Short columella phenotype Finding Abnormality of head or neck 20
C0162285 Edema of eyelid phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of metabolism/homeostasis; Abnormality of head or neck 22
C4023018 Subcortical cerebral atrophy disease Disease or Syndrome Abnormality of the nervous system 22
C0155299 Coloboma of optic disc disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 23
C1859717 Depressed nasal tip phenotype Finding Abnormality of head or neck 23