Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pancreatic gastrinoma	DOID_5580
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	DOID_0090013	[A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive	DOID_0090014	[A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.]
immunodeficiency-centromeric instability-facial anomalies syndrome 4	DOID_0090011	[An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23.]
conjunctivochalasis	DOID_4250
severe combined immunodeficiency with sensitivity to ionizing radiation	DOID_0090012	[A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.]
melorheostosis	DOID_4253	[An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.]
epidermolysis bullosa simplex with muscular dystrophy	DOID_0090017	[An syndrome characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.]
Alexander disease	DOID_4252	[A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.]
lung giant cell carcinoma	DOID_5583	[A lung carcinoma that is located_in large undifferentiated cells.]
autosomal dominant familial periodic fever	DOID_0090018	[A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.]
boil	SYMP_0019160	[Boil is a skin and integumentary tissue symptom characterized as a localized swelling and inflammation of the skin resulting from usually bacterial infection of a hair follicle and adjacent tissue, having a hard central core, and forming pus.]
Cenani-Lenz syndactyly syndrome	DOID_0090015	[A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.]
Ferguson-Smith tumor	DOID_5585
chromosome 5q deletion syndrome	DOID_0090016	[A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.]
muscle tightness	SYMP_0019162
Caffey disease	DOID_4257	[A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.]
lung papillary adenocarcinoma	DOID_5588	[A papillary adenocarcinoma that is located_in the lung.]
obsolete rheumatism	DOID_4256
Volkmann contracture	DOID_5587	[A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles.]