All terms in DOID

Label Id Description
isolated microphthalmia 2 DOID_0060839 [An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.]
deafness-intellectual disability, Martin-Probst type syndrome DOID_0060830 [A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.]
Griscelli syndrome DOID_0060831 [An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.]
Griscelli syndrome type 1 DOID_0060832 [A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.]
Griscelli syndrome type 2 DOID_0060833 [A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.]
Griscelli syndrome type 3 DOID_0060834 [A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.]
isolated microphthalmia 6 DOID_0060835 [An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.]
persian gulf syndrome DOID_4491 [A syndrome affecting returning military veterans and civilian workers of the Gulf War.]
malignant peritoneal solitary fibrous tumor DOID_4490 [A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum.]
peritoneum cancer DOID_1725 [An organ system cancer that is located in the peritoneum.]
obsolete Orthomyxoviridae infectious disease DOID_4493 [A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites.]
avian influenza DOID_4492 [An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.]
influenza DOID_8469 [A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.]
malignant spindle cell melanoma DOID_3162 [A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.]
melanoma DOID_1909 [A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.]
obsolete spindle cell cancer DOID_3163 [A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells.]
obsolete Hair nevus DOID_3164
integumentary system benign neoplasm DOID_0060121 [An organ system benign neoplasm located_in the integumentary system organs.]
obsolete metastatic malignant neoplasm to the cervix DOID_4496
obsolete leukemoid reaction DOID_3166