Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: Cph (Dme)
Disease
Source: DOID:10923
Definition: A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
Genes: Cph (Dme)
Disease
Source: DOID:9352
Definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Genes: Cph (Dme)
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: Cph (Dme)
Disease
Source: DOID:5419
Definition: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
Genes: Cph (Dme)
Disease
Source: DOID:1289
Definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
Genes: Cph (Dme)
Source: DOID:0060038
Definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
Genes: Cph (Dme)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: Cph (Dme)
Disease
Source: DOID:12241
Definition: A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Genes: Cph (Dme)
Disease
Source: DOID:0111979
Definition: A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
Genes: Cph (Dme)