All terms in DOID

Label Id Description
immunodeficiency-centromeric instability-facial anomalies syndrome 3 DOID_0090010 [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 mutation in the CDCA7 gene on chromosome 2q31.]
immunodeficiency-centromeric instability-facial anomalies syndrome DOID_0090007 [A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.]
eschar SYMP_0019158 [A skin and integumentary tissue symptom that is characterized by a scab formed especially after a burn.]
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 104 DOID_0090014 [A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.]
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 by 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.]
lung giant cell carcinoma DOID_5583 [A lung carcinoma that is located_in large undifferentiated cells.]
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.]
TNF receptor–associated periodic syndrome DOID_0090018 [An autoinflammatory 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 [A skin and integumentary tissue symptom that is characterized by 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 chromosomal 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.]