All terms in DOID

Label Id Description
mild cognitive impairment DOID_0080832 [A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.]
laryngomalacia DOID_0080833 [A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying.]
X-linked warfarin sensitivity DOID_0080839 [An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27.]
acquired laryngomalacia DOID_0080834 [A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.]
TORCH syndrome DOID_0080835 [A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.]
growth hormone insensitivity syndrome with immune dysregulation 1 DOID_0080836 [A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.]
growth hormone insensitivity syndrome with immune dysregulation 2 DOID_0080837 [A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.]
maxillary sinus squamous cell carcinoma DOID_7910 [A squamous cell carcinoma that is located_in the maxillary sinus.]
cervical spinal canal and spinal cord meningioma DOID_7915
mixed oligodendroglioma-astrocytoma DOID_7912
mepivacaine CHEBI_6759
piperidinecarboxamide CHEBI_48592
salivary gland mucinous adenocarcinoma DOID_0080800 [A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.]
cranioectodermal dysplasia 3 DOID_0080805 [A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.]
cranioectodermal dysplasia DOID_0050577 [A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.]
cranioectodermal dysplasia 4 DOID_0080806 [A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14.]
autosomal dominant craniodiaphyseal dysplasia DOID_0080807 [A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.]
mammary analogue secretory carcinoma DOID_0080808 [A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.]
autosomal dominant craniometaphyseal dysplasia DOID_0080801 [A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.]
autosomal recessive craniometaphyseal dysplasia DOID_0080802 [A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.]