|
immunodeficiency 106
|
DOID_0061075 |
[A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22.] |
|
immunodeficiency 107
|
DOID_0061076 |
[A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15.] |
|
immunodeficiency 108
|
DOID_0061077 |
[A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.] |
|
immunodeficiency 109
|
DOID_0061078 |
[A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36.] |
|
immunodeficiency 112
|
DOID_0061079 |
[A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21.] |
|
immunodeficiency 100
|
DOID_0061070 |
[A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.] |
|
immunodeficiency 101
|
DOID_0061071 |
[A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11.] |
|
immunodeficiency 102
|
DOID_0061072 |
[A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26.] |
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autosomal recessive nonsyndromic deafness 25
|
DOID_0110483 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.] |
|
autosomal recessive nonsyndromic deafness 26
|
DOID_0110484 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31.] |
|
autosomal recessive nonsyndromic deafness 23
|
DOID_0110481 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.] |
|
autosomal recessive nonsyndromic deafness 24
|
DOID_0110482 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22.] |
|
autosomal recessive nonsyndromic deafness 22
|
DOID_0110480 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.] |
|
autosomal recessive nonsyndromic deafness 30
|
DOID_0110489 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1.] |
|
autosomal recessive nonsyndromic deafness 29
|
DOID_0110487 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.] |
|
autosomal recessive nonsyndromic deafness 3
|
DOID_0110488 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.] |
|
autosomal recessive nonsyndromic deafness 27
|
DOID_0110485 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31.] |
|
autosomal recessive nonsyndromic deafness 28
|
DOID_0110486 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.] |
|
autosomal recessive nonsyndromic deafness 17
|
DOID_0110472 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31.] |
|
autosomal recessive nonsyndromic deafness 18A
|
DOID_0110473 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15.] |
