All terms in DOID

Label Id Description
congenital disorder of glycosylation Ie DOID_0080557 [A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.]
conjunctival swelling SYMP_0020038
congenital disorder of glycosylation If DOID_0080558 [A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.]
Naxos disease DOID_0080551 [A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.]
congenital disorder of glycosylation Ia DOID_0080552 [A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.]
congenital disorder of glycosylation Iaa DOID_0080553 [A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.]
congenital disorder of glycosylation Ib DOID_0080554 [A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.]
Exophiala dermatitidis NCBITaxon_5970
congenital disorder of glycosylation Ig DOID_0080559 [A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.]
Alphapapillomavirus 10 NCBITaxon_333754
Alphapapillomavirus NCBITaxon_333750
obsolete pediatric desmoplastic small round cell tumor DOID_6784
obsolete West Nile virus infectious disease DOID_4121 [A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back.]
desmoplastic small round cell tumor DOID_6785 [A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.]
obsolete spinal vascular disorder DOID_5456
chest discomfort SYMP_0020031 [A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders.]
obsolete pulmonary vascular disorder DOID_5455
vulvar childhood botryoid-type embryonal rhabdomyosarcoma DOID_6789
chest tightness SYMP_0020032 [A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck.]
childhood botryoid rhabdomyosarcoma DOID_6786 [A botryoid rhabdomyosarcoma that presents in childhood.]