All terms in DOID

Label Id Description
retinitis pigmentosa with or without situs inversus DOID_0110419 [A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.]
cerebellar ataxia type 9 DOID_0111747 [An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.]
retinitis pigmentosa 24 DOID_0110416 [A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27.]
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 DOID_0111748 [A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.]
retinitis pigmentosa 34 DOID_0110417 [A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28.]
cecal benign neoplasm DOID_1517 [An intestinal benign neoplasm that is located_in the cecum.]
Jervell-Lange Nielsen syndrome DOID_2842
obsolete syphilitic endocarditis DOID_1516
obsolete mitral valve syphilitic endocarditis DOID_1515
46,XY sex reversal 9 DOID_0111770 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1.]
dilated cardiomyopathy 1J DOID_0110440 [A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.]
46,XY sex reversal 4 DOID_0111771 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.]
malignant neoplasm of acoustic nerve DOID_2814
malignant oculomotor nerve tumor DOID_2816
cranial nerve III tumor DOID_2817
obsolete Varicella-zoster virus hepatitis DOID_0050210 [A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.]
obsolete Campylobacter jejuni gastroenteritis DOID_0050212 [A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.]
swine influenza DOID_0050211 [An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.]
46,XY sex reversal 1 DOID_0111778 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.]
dilated cardiomyopathy 1DD DOID_0110447 [A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25.]