All terms in DOID

Label Id Description
Charcot-Marie-Tooth disease recessive intermediate B DOID_0110204 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.]
progressive osseous heteroplasia DOID_0111535 [A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.]
Charcot-Marie-Tooth disease recessive intermediate A DOID_0110201 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.]
osteoglophonic dysplasia DOID_0111532 [An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.]
bronchial mucus gland adenoma DOID_7030
glassy cell variant cervical adenosquamous carcinoma DOID_8361 [A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.]
Charcot-Marie-Tooth disease dominant intermediate A DOID_0110202 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.]
gnathodiaphyseal dysplasia DOID_0111533 [An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.]
linear nevus sebaceous syndrome DOID_0111530 [A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.]
bilateral optic nerve hypoplasia DOID_0111531 [An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.]
Charcot-Marie-Tooth disease dominant intermediate D DOID_0110200 [A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.]
epithelioid malignant peripheral nerve sheath tumor DOID_8353
obsolete borderline ovarian serous neoplasm with microinvasion DOID_7023
complement component 3 deficiency DOID_8354 [A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.]
lymphogranuloma venereum DOID_13819 [A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.]
granuloma inguinale DOID_9113 [A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.]
Ritter's disease DOID_9063 [A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.]
aortic malignant tumor DOID_8352 [A vascular cancer that is located_in the aorta.]
yellow fever DOID_9682 [A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.]
obsolete single episode manic disorder mild degree DOID_13818