Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 190 12
C4021959 Round ear disease Anatomical Abnormality Abnormality of the ear 10 4
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 285 44
C0235833 Congenital diaphragmatic hernia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature 239 31
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 138 26
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 49 19
C0265287 Acromicric Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 21 31
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 850 135
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 130 1012
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 59 442
C1858556 OVERLAP CONNECTIVE TISSUE DISEASE disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 27 17
C1869115 Weill-Marchesani Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 23
C3541518 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT disease Disease or Syndrome genetic disease; disease of anatomical entity 1 24
C4310796 MARFAN LIPODYSTROPHY SYNDROME disease Disease or Syndrome 1 27
C1861456 Stiff Skin Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 26
C3280054 GELEOPHYSIC DYSPLASIA 2 disease Disease or Syndrome 1 27
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282 16
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 271 106
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211 25
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 210 32
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 108 31
C1142533 Smooth philtrum phenotype Finding Abnormality of head or neck 105 10