Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
isolated microphthalmia 4	DOID_0060836	[An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.]
isolated microphthalmia	DOID_0080637	[A microphthalmia that occurs by itself.]
isolated microphthalmia 5	DOID_0060837	[An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.]
isolated microphthalmia 7	DOID_0060838	[An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.]
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
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, which is transmitted by contact with infected poultry. 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, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, 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.]
Influenza A virus	NCBITaxon_11320
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.]