All terms in DOID

Label Id Description
Schindler disease type 3 DOID_0112320 [A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.]
Schindler disease DOID_0112317 [A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.]
susceptibility to idiopathic generalized epilepsy 10 MIM_613060
pontocerebellar hypoplasia type 2F DOID_0112329 [A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.]
pontocerebellar hypoplasia type 2 DOID_0112328 [A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.]
susceptibility to basal cell carcinoma 4 MIM_613061
pontocerebellar hypoplasia DOID_0060264 [A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.]
dyskinesia of esophagus DOID_9192
susceptibility to basal cell carcinoma 5 MIM_613062
pontocerebellar hypoplasia type 12 DOID_0112327 [A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.]
diabetic macular edema DOID_9191
susceptibility to basal cell carcinoma 6 MIM_613063
pontocerebellar hypoplasia type 15 DOID_0112326 [A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.]
pontocerebellar hypoplasia type 14 DOID_0112325 [A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2.]
pontocerebellar hypoplasia type 11 DOID_0112324 [A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2.]
pontocerebellar hypoplasia type 1D DOID_0112323 [A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.]
pontocerebellar hypoplasia type 1 DOID_0112322 [A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.]
obsolete Herpes simplex virus keratitis DOID_9195 [A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.]
susceptibility to acute lymphoblastic leukemia 2 MIM_613067
obsolete generalized hyperhidrosis DOID_9189