All terms in DOID

Label Id Description
obsolete papillary follicular thyroid adenocarcinoma DOID_3968
monilethrix DOID_0050472 [A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.]
Carney complex DOID_0050471 [A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.]
breast pericanalicular fibroadenoma DOID_2639 [A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.]
obsolete RNA virus infectious disease DOID_1301 [A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material.]
Netherton syndrome DOID_0050474 [A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.]
Alstrom syndrome DOID_0050473 [A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.]
Barth syndrome DOID_0050476 [A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.]
Weill-Marchesani syndrome DOID_0050475 [A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.]
immunodeficiency 131 DOID_0061125 [A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.]
immunodeficiency 60 DOID_0111954 [A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15.]
primary ciliary dyskinesia 15 DOID_0110623 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.]
Abnormality of the biliary system HP_0004297
Brunet-Wagner neurodevelopmental syndrome DOID_0061126 [An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12.]
primary ciliary dyskinesia 30 DOID_0110624 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.]
immunodeficiency 27A DOID_0111955 [A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.]
retinitis pigmentosa 99 DOID_0061127 [A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1.]
immunodeficiency 57 DOID_0111952 [A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2.]
primary ciliary dyskinesia 17 DOID_0110621 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.]
mucopolysaccharidosis X DOID_0061128 [A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.]