All terms in DOID

Label Id Description
anaplastic large cell lymphoma DOID_0050744 [A non-Hodgkin lymphoma involving aberrant T-cells.]
mantle cell lymphoma DOID_0050746 [A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.]
obsolete lymphoplasmacytic lymphoma DOID_0050747 [A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.]
pheochromocytoma DOID_0050771 [An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.]
spastic ataxia 1 DOID_0050772 [A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.]
hereditary spherocytosis type 5 DOID_0110920 [A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.]
familial hemophagocytic lymphohistiocytosis 1 DOID_0110921 [A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.]
peripheral nervous system UBERON_0000010
endocrine pancreas UBERON_0000016
nemaline myopathy 2 DOID_0110928 [A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.]
nemaline myopathy 9 DOID_0110929 [A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.]
congenital myopathy 4B DOID_0110926 [A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21.]
pituitary gland UBERON_0000007
nemaline myopathy 3 DOID_0110927 [A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.]
islet of Langerhans UBERON_0000006
familial hemophagocytic lymphohistiocytosis 4 DOID_0110924 [A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2.]
familial hemophagocytic lymphohistiocytosis 5 DOID_0110925 [A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.]
familial hemophagocytic lymphohistiocytosis 2 DOID_0110922 [A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.]
familial hemophagocytic lymphohistiocytosis 3 DOID_0110923 [A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1.]
schneckenbecken dysplasia DOID_0050775 [An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.]