Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| eccrine papillary adenoma | DOID_5446 | [A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time.] |
| colon neuroendocrine neoplasm | DOID_4118 | |
| vaginal adenosarcoma | DOID_4117 | [A vaginal carcinosarcoma derives_from the glands that line the uterus.] |
| vaginal carcinosarcoma | DOID_136 | [A vaginal carcinoma that has_material_basis in connective tissue.] |
| intestinal neuroendocrine benign tumor | DOID_4119 | |
| congenital disorder of glycosylation Ic | DOID_0080555 | [A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.] |
| congenital disorder of glycosylation Id | DOID_0080556 | [A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.] |
| 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.] |
| 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.] |
| nonepidermolytic palmoplantar keratoderma | DOID_0050428 | [A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.] |
| 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.] |
| susceptibility to cutaneous malignant melanoma 9 | OMIM_615134 | |
| 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 |