All terms in DOID

Label Id Description
Treacher Collins syndrome 3 DOID_0080791 [A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.]
autosomal dominant hypocalcemia 1 DOID_0090107 [An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.]
obsolete adult atypical meningioma DOID_6545
obsolete ephemeral fever DOID_5215 [A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation.]
autosomal dominant hypocalcemia 2 DOID_0090108 [An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.]
Treacher Collins syndrome 4 DOID_0080792 [A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.]
angiomatous meningioma DOID_6548
obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma DOID_6549
hereditary diffuse gastric cancer DOID_0080764 [A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.]
diffuse gastric cancer DOID_0080763 [A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.]
autosomal recessive intellectual developmental disorder 72 DOID_0080765 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31.]
erythrokeratodermia variabilis et progressiva 6 DOID_0080766 [An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.]
autoimmune myocarditis DOID_0080767 [An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle.]
myocarditis DOID_820 [An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.]
autoimmune disease of cardiovascular system DOID_0060051 [An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.]
Fanconi renotubular syndrome 4 DOID_0080760 [A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.]
Fanconi renotubular syndrome 5 DOID_0080761 [A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.]
autosomal recessive limb-girdle muscular dystrophy type 2Z DOID_0080762 [An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.]
autosomal recessive limb-girdle muscular dystrophy DOID_0110274 [A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.]
early-onset vitamin B6-dependent epilepsy 1 DOID_0080769 [A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.]