|
anatomical wall
|
UBERON_0000060 |
|
|
common variable immunodeficiency 10
|
DOID_0081152 |
[A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24.] |
|
common variable immunodeficiency 11
|
DOID_0081153 |
[A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.] |
|
common variable immunodeficiency 12
|
DOID_0081154 |
[A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.] |
|
common variable immunodeficiency 13
|
DOID_0081155 |
[A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.] |
|
common variable immunodeficiency 7
|
DOID_0081150 |
[A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.] |
|
common variable immunodeficiency 8
|
DOID_0081151 |
[A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.] |
|
HMG-CoA synthase 2 deficiency
|
DOID_0081168 |
[An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.] |
|
Leber congenital amaurosis 19
|
DOID_0081169 |
[A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.] |
|
Leber congenital amaurosis
|
DOID_14791 |
[A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.] |
|
parotid gland
|
UBERON_0001831 |
|
|
nasal cavity mucosa
|
UBERON_0001826 |
|
|
gingiva
|
UBERON_0001828 |
|
|
mouth mucosa
|
UBERON_0003729 |
|
|
sebaceous gland
|
UBERON_0001821 |
|
|
dilated cardiomyopathy 2G
|
DOID_0081163 |
[A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.] |
|
obsolete dilated cardiomyopathy 3B
|
DOID_0081164 |
[A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.] |
|
dilated cardiomyopathy 2D
|
DOID_0081160 |
[A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.] |
|
dilated cardiomyopathy 2E
|
DOID_0081161 |
[A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.] |
|
dilated cardiomyopathy 2F
|
DOID_0081162 |
[A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32.] |
