All terms in DOID

Label Id Description
Orthopoxvirus NCBITaxon_10242
Orthopoxvirus vaccinia NCBITaxon_10245
Monkeypox virus NCBITaxon_10244
Orthopoxvirus monkeypox NCBITaxon_3431483
La Crosse virus NCBITaxon_11577
Orthobunyavirus lacrosseense NCBITaxon_3052409
hypomyelinating leukodystrophy 15 DOID_0070398 [A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.]
hypomyelinating leukodystrophy 18 DOID_0070399 [A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.]
T-cell prolymphocytic leukemia DOID_0081042 [A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.]
prolymphocytic leukemia DOID_1039 [A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.]
fetal akinesia deformation sequence syndrome X-linked DOID_0081043 [A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures.]
fetal akinesia deformation sequence syndrome DOID_0111375 [A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.]
frontonasal dysplasia 1 DOID_0081045 [A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.]
B-cell prolymphocytic leukemia DOID_0081041 [A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.]
congenital fibrosis of the extraocular muscles 3A DOID_0081017 [A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.]
congenital fibrosis of the extraocular muscles DOID_0080143 [An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.]
congenital fibrosis of the extraocular muscles 3C DOID_0081019 [A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).]
severe COVID-19 DOID_0081013 [A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.]
COVID-19 DOID_0080600 [A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.]
non-severe COVID-19 DOID_0081014 [A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19.]