Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0282492 Sneddon Syndrome disease Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C2931171 Juvenile pauciarticular chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 7
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4
C1384600 Systemic onset juvenile chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4
C1861481 Stickler syndrome, type 3 disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2
C0029455 Osteopoikilosis (disorder) disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1
C3149695 Melorheostosis with Osteopoikilosis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C0039483 Giant Cell Arteritis disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C1956391 Temporal Arteritis disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0038325 Stevens-Johnson Syndrome disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 2
C1850568 Nakajo syndrome disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 1
C0473546 Vibratory angioedema disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 1
C1857728 Hereditary Angioedema Type III disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C1862892 Hereditary Angioedema Type II 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 28
C0030805 Bullous pemphigoid disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 2
C0157743 Vibratory urticaria disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the cardiovascular system 1
C1852146 DERMODISTORTIVE URTICARIA disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 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
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 3
C0345419 Cutis marmorata telangiectatica congenita disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality Abnormality of the integument 1
C3887654 POLYARTERITIS NODOSA, CHILDHOOD-ONSET disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1