All terms in DOID

Label Id Description
Fasciola NCBITaxon_6191
aleutian mink disease DOID_2934 [A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9, or Amdoparvovirus carnivoran10). The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.]
autosomal dominant nonsyndromic deafness 31 DOID_0110561 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3.]
Diamond-Blackfan anemia 11 DOID_0111892 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1.]
Opisthorchiata NCBITaxon_6194
Opisthorchiida NCBITaxon_6193
Chediak-Higashi syndrome DOID_2935 [A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.]
obsolete Parvoviridae infectious disease DOID_2936 [A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.]
Diamond-Blackfan anemia 4 DOID_0111890 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.]
obsolete Human herpesvirus 8 infectious disease DOID_2937 [A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8.]
lacrimoauriculodentodigital syndrome 1 DOID_0050331 [A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.]
obsolete Herpesviridae infectious disease DOID_2939 [A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.]
obsolete congenital anosmia DOID_0050333
enlarged vestibular aqueduct DOID_0050332 [A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.]
X-linked thrombophilia due to factor IX defect DOID_0111899 [A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.]
autosomal dominant nonsyndromic deafness 43 DOID_0110568 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12.]
Cestoda NCBITaxon_6199
autosomal dominant nonsyndromic deafness 44 DOID_0110569 [An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.]
autosomal dominant nonsyndromic deafness 40 DOID_0110566 [An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12.]
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis DOID_0111897 [A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.]