All terms in DOID

Label Id Description
alcohol-related neurodevelopmental disorder DOID_0050667 [A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.]
partial fetal alcohol syndrome DOID_0050666 [A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.]
alcohol-related birth defects DOID_0050668 [A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.]
chronic eustachian salpingitis DOID_1999 [A otosalpingitis which is persistent and long-lasting.]
Lutembacher's syndrome DOID_1998
susceptibility to isolated scoliosis 2 MIM_607354
brachyolmia DOID_0050690 [An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.]
coronin-1A deficiency DOID_0060019 [A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.]
Brody myopathy DOID_0050692 [A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.]
CD3gamma deficiency DOID_0060018 [A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.]
branchiooculofacial syndrome DOID_0050691 [A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.]
CD3epsilon deficiency DOID_0060017 [A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.]
CD3delta deficiency DOID_0060016 [A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.]
Brooke-Spiegler syndrome DOID_0050693 [A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.]
obsolete interleukin-7 receptor alpha deficiency DOID_0060015 [A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.]
CD45 deficiency DOID_0060014 [A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.]
malignant pleural solitary fibrous tumor DOID_0050695 [A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.]
cryptic_splice_acceptor SO_0001570
cryptic_splice_site_variant SO_0001569
Breast hypoplasia HP_0003187