|
autosomal recessive nonsyndromic deafness 104
|
DOID_0110465 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22.] |
|
obsolete autosomal recessive nonsyndromic deafness 105
|
DOID_0110466 |
|
|
autosomal recessive congenital nystagmus
|
DOID_0111797 |
[A congenital nystagmus characterized by autosomal recessive inheritance.] |
|
autosomal recessive nonsyndromic deafness 102
|
DOID_0110463 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.] |
|
obsolete congenital nystagmus 4
|
DOID_0111794 |
[A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33.] |
|
congenital nystagmus 6
|
DOID_0111795 |
[A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2.] |
|
autosomal recessive nonsyndromic deafness 103
|
DOID_0110464 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.] |
|
immunodeficiency 118
|
DOID_0061084 |
[A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24.] |
|
immunodeficiency 119
|
DOID_0061085 |
[A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV.] |
|
T cell, B cell, and NK cell deficiency
|
DOID_0111965 |
[A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells.] |
|
immunodeficiency 120
|
DOID_0061086 |
[A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.] |
|
immunodeficiency 121
|
DOID_0061087 |
[A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22.] |
|
immunodeficiency 122
|
DOID_0061088 |
[A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13.] |
|
immunodeficiency 123
|
DOID_0061089 |
[A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33.] |
|
immunodeficiency 114
|
DOID_0061080 |
[A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.] |
|
immunodeficiency 115
|
DOID_0061081 |
[A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11.] |
|
immunodeficiency 116
|
DOID_0061082 |
[A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12.] |
|
immunodeficiency 117
|
DOID_0061083 |
[A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31.] |
|
Waisman syndrome
|
DOID_0111781 |
[A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.] |
|
dilated cardiomyopathy 1II
|
DOID_0110450 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.] |
