Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Meier-Gorlin syndrome 8	DOID_0080255	[A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.]
Meier-Gorlin syndrome	DOID_0060306	[A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.]
blotchy red rash	SYMP_0000743
Perrault syndrome 6	DOID_0080256
Perrault syndrome	DOID_0050857	[A syndrome that is characterized by sensorineural hearing loss and ovarian failure.]
cervical lymphadenopathy	SYMP_0000744
autosomal recessive congenital ichthyosis 13	DOID_0080257
disuse amblyopia	DOID_10378
amblyopia	DOID_10376
ametropic amblyopia	DOID_10377
suppression amblyopia	DOID_10375
rubella	DOID_8781	[A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.]
Rubella virus	NCBITaxon_11041
hypogonadotropism	DOID_7455
disseminated chorioretinitis	DOID_8787
obsolete postherpetic polyneuropathy	DOID_8785	[A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching.]
obsolete AIDS-related anal cancer	DOID_6122	[An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS.]
nasal bleeding	SYMP_0000741
gliomatosis cerebri	DOID_6128	[A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.]
acantholytic variant squamous cell breast carcinoma	DOID_7459	[A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.]