Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
atrioventricular block	MONDO_0000465	[A heart block that is initiated in the atrioventricular node.]
obsolete deafness-enamel hypoplasia-nail defects syndrome	MONDO_0009325
hemolytic anemia due to adenylate kinase deficiency	MONDO_0012967	[Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.]
X-linked intellectual disability, Cabezas type	MONDO_0010306	[X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.]
Hartnup disease	MONDO_0009324	[Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).]
thrombocytopenia, X-linked, with or without dyserythropoietic anemia	MONDO_0010308	[An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.]
hallux varus-preaxial polysyndactyly syndrome	MONDO_0009321	[Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.]
Hall-Riggs syndrome	MONDO_0009320	[Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.]
episodic ataxia type 6	MONDO_0012982	[Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.]
endocrine-cerebro-osteodysplasia syndrome	MONDO_0012980	[Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.]
bilateral parasagittal parieto-occipital polymicrogyria	MONDO_0012986
Atkin-Flaitz syndrome	MONDO_0010323	[Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.]
Disseminated intravascular coagulation	HP_0005521	[Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.]
X-linked intellectual disability, Stocco dos Santos type	MONDO_0010325
PHARC syndrome	MONDO_0012984	[Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.]
parasitic disease, non-human animal	MONDO_0024969	[Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.]
Haliotis asinina	NCBITaxon_109174
congenital bile acid synthesis defect 2	MONDO_0009339	[Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.]
hepatic veno-occlusive disease-immunodeficiency syndrome	MONDO_0009338	[Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.]
hepatic veno-occlusive disease	MONDO_0019514	[Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.]