Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1853102 Cerebrooculofacioskeletal Syndrome 2 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C4024961 Metachromatic leukodystrophy variant disease Disease or Syndrome Abnormality of the nervous system 1
C2826055 Mixed phenotype acute leukemia T/myeloid disease Neoplastic Process 1
C1955934 Trichothiodystrophy Syndromes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268138 Xeroderma Pigmentosum, Complementation Group D disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0220722 Cerebrooculofacioskeletal Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2
C1866504 Photosensitive Trichothiodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 2
C0043346 Xeroderma Pigmentosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 5
C4024892 Congenital exfoliative erythroderma disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the immune system 6
C4732857 Hypoplasia of mandible relative to maxilla disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 6
C4022736 Impaired social reciprocity disease Mental or Behavioral Dysfunction Abnormality of the nervous system 6
C4023792 Paraplegia/paraparesis disease Disease or Syndrome Abnormality of the nervous system 6
C4073178 Tiger tail banding phenotype Finding Abnormality of the integument 7
C1328440 Abnormality of amino acid metabolism phenotype Finding Abnormality of metabolism/homeostasis 8
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8
C0263485 Clastothrix disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 8
C0015414 Eye Neoplasms group Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 8
C4023759 Flat nasal alae phenotype Finding Abnormality of head or neck 8
C0263530 Longitudinal split nail phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 8
C0423813 Splits in nails (finding) phenotype Sign or Symptom 8
C1836933 Low-set nipples phenotype Finding Abnormality of the breast 9
C1968565 Numerous pigmented freckles phenotype Finding Abnormality of the integument 9
C2169795 Recurrent bronchopulmonary infections phenotype Finding Abnormality of the immune system; Abnormality of the respiratory system 10
C0241267 Absence of subcutaneous fat phenotype Finding Abnormality of connective tissue 11
C0006266 Bronchospasm disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 11