Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
early infantile epileptic encephalopathy 1	DOID_0080468	[An early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has_material_basis_in mutation in the ARX gene on chromosome Xp21.]
obsolete congenital disorder of glycosylation type 2m	DOID_0080469
early infantile epileptic encephalopathy 33	DOID_0080463	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.]
early infantile epileptic encephalopathy 53	DOID_0080464	[An early infantile epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.]
early infantile epileptic encephalopathy 30	DOID_0080465	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.]
obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2	DOID_0080466
Cutaneous photosensitivity	HP_0000992	[An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.]
chondroid chordoma	DOID_4152	[A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.]
ovarian surface epithelial cell	CL_2000064
dentinogenesis imperfecta	DOID_4154
synovial sarcoma	DOID_5485	[A synovium cancer which develops in the synovial membrane of the joints.]
synovium cancer	DOID_2706
fibrous synovial sarcoma	DOID_5484
spinal chordoma	DOID_4153	[A chordoma that derives_from the spine.]
primary syphilis	DOID_4156	[A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.]
syphilis	DOID_4166	[A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.]
spindle cell synovial sarcoma	DOID_5487
obsolete metastatic synovial sarcoma	DOID_5486
Aplasia/Hypoplasia of the breasts	HP_0010311	[Absence or underdevelopment of the breasts.]
Abnormal breast morphology	HP_0031093	[Any anomaly of the structure of the breast.]