All terms in DOID

Label Id Description
granular cell tumor of the sellar region DOID_5047 [A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.]
hypersplenism DOID_6376
mediastinal granular cell myoblastoma DOID_5046
mediastinal neurilemmoma DOID_6175 [A neurilemmoma located_in the mediastinum.]
congenital myopathy 18 DOID_0081350 [A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.]
Jansen's metaphyseal chondrodysplasia DOID_0080020 [A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.]
congenital myopathy 19 DOID_0081351 [A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.]
diffuse meningeal melanocytosis DOID_6379 [A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.]
congenital myopathy 20 DOID_0081352 [A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.]
Schmid metaphyseal chondrodysplasia DOID_0080021 [A metaphyseal dysplasia that results_in dwarfism and bowed legs.]
obsolete McKusick type metaphyseal dysplasia DOID_0080022
congenital myopathy 21 DOID_0081353 [A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.]
pycnodysostosis DOID_0080038 [An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.]
Paget's disease of bone 6 DOID_0081369 [A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21.]
Paget's disease of bone DOID_5408 [A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.]
axial osteomalacia DOID_0080039 [An osteosclerosis that results_in coarsening located_in trabecular bone.]
obsolete endosteal hyperostosis DOID_0080034 [A hyperostosis of endosteal bone.]
Paget's disease of bone 2 DOID_0081365 [A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.]
susceptibility to migraine with or without aura 13 MIM_613656
Paget's disease of bone 3 DOID_0081366 [A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.]