Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Familial platelet syndrome with predisposition to acute myelogenous leukemia	Orphanet_71290
Hereditary vascular retinopathy	Orphanet_71291	[Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms.]
mucopolysaccharidosis type 4A	MONDO_0009659	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.]
mucopolysaccharidosis type 3D	MONDO_0009658	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.]
hypogonadotropic hypogonadism 1 with or without anosmia	MONDO_0010635	[The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.]
mucopolysaccharidosis type 3C	MONDO_0009657	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.]
mucopolysaccharidosis type 3B	MONDO_0009656	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.]
CD115-positive monocyte OR common dendritic progenitor	CL_0001019
hematopoietic lineage restricted progenitor cell	CL_0002031	[A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells.]
mucopolysaccharidosis type 3A	MONDO_0009655	[A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.]
immature CD8_alpha-low Langerhans cell	CL_0001018	[Immature CD8_alpha-low Langerhans cell is a CD8_alpha-low Langerhans cell that is CD80-low, CD86-low, and MHCII-low.]
obsolete_severe combined immunodeficiency due to DNA-PKcs deficiency	Orphanet_317425
laryngeal abductor paralysis-intellectual disability syndrome	MONDO_0010639	[Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.]
mucolipidosis type IV	MONDO_0009653	[A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.]
obsolete_Multiple polyglandular tumor	Orphanet_100094
keratosis follicularis-dwarfism-cerebral atrophy syndrome	MONDO_0010638	[Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.]
mucolipidosis type III gamma	MONDO_0009652	[Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.]
obsolete_combined immunodeficiency due to ORAI1 deficiency	Orphanet_317428
mucolipidosis type II	MONDO_0009650	[Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.]
CD34-positive, CD38-negative hematopoietic stem cell	CL_0001024	[CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive.]