Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Klippel-Trénaunay syndrome	Orphanet_90308	[A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.]
Genetic skin vascular disorder	Orphanet_183478
Genetic overgrowth/obesity syndrome	Orphanet_183573
Malformation syndrome with hamartosis	Orphanet_98196
Oligodontia - cancer predisposition syndrome	Orphanet_300576
Polymicrogyria due to TUBB2B mutation	Orphanet_300573
pineal body neoplasm	MONDO_0021232	[A neoplasm (disease) that involves the pineal body.]
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Orphanet_300570
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability	Orphanet_324540
Diplopia	HP_0000651	[Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.]
Rhizoctonia solani	NCBITaxon_456999
Anonychia - onychodystrophy	Orphanet_90390
histidine metabolism disease	MONDO_0004738	[A disease that has its basis in the disruption of histidine metabolic process.]
obsolete_moderately severe hemophilia B	Orphanet_169796
myopathy of extraocular muscle	MONDO_0004746	[A myopathy that involves the extra-ocular muscle.]
lip disorder	MONDO_0004748	[A disease involving the lip.]
obsolete_severe hemophilia B	Orphanet_169793
tyrosinemia	MONDO_0004741	[An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.]
choroid plexus carcinoma	MONDO_0016718	[A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)]
microcephaly-seizures-intellectual disability-heart disease syndrome	MONDO_0016719	[Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.]