Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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.]
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.]
polycystic liver disease	DOID_0050770	[A liver disease that is characterized by the presence of multiple cysts located_in the liver.]
paraganglioma	DOID_0050773	[A pheochromocytoma that arises in extraadrenal sympathetic ganglia.]
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 EPB42 on chromosome 15q15.2.]
familial hemophagocytic lymphohistiocytosis 1	DOID_0110921	[A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.]
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.]
nemaline myopathy 1	DOID_0110926	[A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.]
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 STX11 on chromosome 6q24.2.]
familial hemophagocytic lymphohistiocytosis 5	DOID_0110925	[A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2.]
familial hemophagocytic lymphohistiocytosis 2	DOID_0110922	[A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1.]
familial hemophagocytic lymphohistiocytosis 3	DOID_0110923	[A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D 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.]
rapadilino syndrome	DOID_0050774	[A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.]
non-syndromic intellectual disability	DOID_0050889	[An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.]