All terms in DOID

Label Id Description
Wolfram syndrome 2 DOID_0110630 [An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.]
obsolete arthrogryposis due to muscular dystrophy DOID_0110631 [A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome.]
Toxocara NCBITaxon_6264
immunodeficiency 15A DOID_0111960 [A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.]
autosomal recessive limb-girdle muscular dystrophy type 28 DOID_0061130 [An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.]
end stage renal disease DOID_783 [A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.]
autosomal recessive limb-girdle muscular dystrophy type 26 DOID_0061131 [An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21.]
renal infectious disease DOID_782
immunodeficiency 39 DOID_0111969 [A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5.]
obsolete congenital muscular dystrophy merosin-positive DOID_0110638 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.]
autosomal recessive limb-girdle muscular dystrophy type 23 DOID_0061132 [An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.]
obsolete hypotony of eye associated with another ocular disorder DOID_789
congenital muscular dystrophy due to integrin alpha-7 deficiency DOID_0110639 [A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.]
autosomal recessive limb-girdle muscular dystrophy type 27 DOID_0061133 [An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.]
immunodeficiency 54 DOID_0111967 [A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.]
congenital merosin-deficient muscular dystrophy 1A DOID_0110636 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.]
autosomal recessive limb-girdle muscular dystrophy type 29 DOID_0061134 [An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24.]
muscular dystrophy-dystroglycanopathy type B6 DOID_0110637 [A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.]
immunodeficiency 41 DOID_0111968 [A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.]
infantile hypercalcemia 2 DOID_0061135 [A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35.]