Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0031099 Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 1
C0376480 Gingival Overgrowth phenotype Stomatognathic Diseases Finding disease of anatomical entity Abnormality of head or neck 1
C0399380 Dentin dyspalsia, Shields type 2 disease Stomatognathic Diseases Congenital Abnormality disease of anatomical entity 1
C1852222 Failure of Tooth Eruption, Primary disease Stomatognathic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4022537 Triangular tongue disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 1
C4025886 Severe periodontitis disease Stomatognathic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of head or neck 1
C4551681 Periodontitis, Aggressive, 1 disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 1
C0024145 Chilblain lupus 1 disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity 1
C0282492 Sneddon Syndrome disease Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1
C0022596 Palmoplantar Keratosis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of limbs 2
C0152093 Hypermobility syndrome disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1
C0432233 Trichorhinophalangeal dysplasia type I disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1
C1861481 Stickler syndrome, type 3 disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C1850568 Nakajo syndrome disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 2
C1857728 Hereditary Angioedema Type III disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C2717906 Hereditary Angioedema Type I disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 7
C0162824 Dermatitis, Photoallergic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 1
C1843004 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 1
C4317151 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 1
C0031036 Polyarteritis Nodosa disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C3887654 POLYARTERITIS NODOSA, CHILDHOOD-ONSET disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 11
C0024138 Lupus Erythematosus, Discoid disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 5