Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: tbx1 (Dre)
Disease
Source: DOID:1826
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Genes: tbx1 (Dre)
Disease
Source: DOID:0060041
Definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
Genes: tbx1 (Dre)
Disease
Source: DOID:1657
Definition: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Genes: tbx1 (Dre)
Disease
Source: DOID:11198
Definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Genes: tbx1 (Dre)
Disease
Source: DOID:11199
Definition: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
Genes: tbx1 (Dre)
Disease
Source: DOID:10003
Definition: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
Genes: tbx1 (Dre)
Disease
Source: DOID:12583
Definition: A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
Genes: tbx1 (Dre)
Disease
Source: DOID:10754
Definition: A otitis which involves inflammation of the middle ear.
Genes: tbx1 (Dre)
Source: DOID:0060413
Definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
Genes: tbx1 (Dre)