All terms in DOID

Label Id Description
hereditary spastic paraplegia 27 DOID_0110778 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.]
hereditary spastic paraplegia 24 DOID_0110775 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.]
hereditary spastic paraplegia 25 DOID_0110776 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.]
hereditary spastic paraplegia 2 DOID_0110773 [A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.]
hereditary spastic paraplegia 23 DOID_0110774 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.]
hereditary spastic paraplegia 19 DOID_0110772 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.]
Metakinetoplastina NCBITaxon_2704647
hereditary spastic paraplegia 28 DOID_0110779 [A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.]
Abnormal pulmonary thoracic imaging finding HP_0031983
congenital adrenal insufficiency DOID_0050546 [An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.]
familial medullary thyroid carcinoma DOID_0050547 [A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.]
medullary thyroid carcinoma DOID_3973 [A thyroid gland carcinoma that has_material_basis_in parafollicular cells.]
acrodermatitis DOID_2722 [A dermatitis that selectively affects the hands and feet.]
obsolete Saldino-Noonan syndrome DOID_0050549 [A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.]
L-2-hydroxyglutaric aciduria DOID_0050574 [An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).]
Majeed syndrome DOID_0061224 [An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11.]
Anophelinae NCBITaxon_43816
Culicidae NCBITaxon_7157
pheochromocytoma/paraganglioma syndrome 5 DOID_0061220 [A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15.]
paraganglioma DOID_0050773 [A pheochromocytoma that arises in extraadrenal sympathetic ganglia.]