Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete hepatic capillariasis	DOID_0050231	[A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.]
parathyroid carcinoma	DOID_1540	[An endocrine gland cancer located_in the parathyroid glands located in the neck.]
obsolete Acanthamoeba infectious disease	DOID_0050234	[A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.]
obsolete Balamuthia mandrillaris infectious disease	DOID_0050233	[A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.]
Kagami-Ogata syndrome	DOID_0111712	[A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.]
Combined immunodeficiency	HP_0005387	[A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.]
Temple syndrome	DOID_0111713	[A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.]
focal or diffuse nonepidermolytic palmoplantar keratoderma	DOID_0111710	[A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13.]
focal nonepidermolytic palmoplantar keratoderma 2	DOID_0111711	[A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in TRPV3 on chromosome 17p13.2.]
focal nonepidermolytic palmoplantar keratoderma	DOID_0111708	[A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.]
gene_with_stop_codon_redefined_as_pyrrolysine	SO_0000698	[A gene encoding an mRNA that has the stop codon redefined as pyrrolysine.]
gene_with_stop_codon_read_through	SO_0000697	[A gene that encodes a transcript with stop codon readthrough.]
susceptibility to restless legs syndrome 5	OMIM_611242
gene_with_recoded_mRNA	SO_0000693	[A gene that encodes an mRNA that is recoded.]
Mulchandani-Bhoj-Conlin syndrome	DOID_0111714	[A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.]
Schaaf-Yang syndrome	DOID_0111715	[A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.]
obsolete Heterolobosea infectious disease	DOID_0050236	[A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.]
obsolete Alveolata infectious disease	DOID_0050235	[A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.]
obsolete Parabasalia infectious disease	DOID_0050238	[A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.]
obsolete metastatic tumor to the larynx	DOID_2873