All terms in DOID

Label Id Description
Timothy syndrome DOID_0060173 [A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.]
obsolete Dravet syndrome DOID_0060171
Joubert syndrome 21 DOID_0110990 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.]
Henipavirus nipahense NCBITaxon_3052225
histidinemia DOID_0060168 [A histidine metabolism disease characterized by a deficiency of the enzyme histidase.]
Joubert syndrome 28 DOID_0110997 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.]
Joubert syndrome 3 DOID_0110998 [A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.]
gynatresia DOID_429 [A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.]
Joubert syndrome 26 DOID_0110995 [A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.]
Joubert syndrome 27 DOID_0110996 [A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.]
Joubert syndrome 24 DOID_0110993 [A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.]
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites DOID_9142
Joubert syndrome 25 DOID_0110994 [A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.]
obsolete Herpes simplex virus meningoencephalitis DOID_9141 [A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.]
Joubert syndrome 22 DOID_0110991 [A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.]
xeroderma of eyelid DOID_9140
noninfectious dermatoses of eyelid DOID_1894
Joubert syndrome 23 DOID_0110992 [A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.]
digestive tract epithelium UBERON_0003929
liver carcinoma in situ DOID_9132 [An in situ carcinoma that is located_in the liver.]