Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
microcephaly-micromelia syndrome	MONDO_0009619
microcephaly-cardiomyopathy syndrome	MONDO_0009618	[A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.]
rib	UBERON_0002228	[An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses.]
microcephaly 1, primary, autosomal recessive	MONDO_0009617	[Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.]
microcephalic primordial dwarfism, Toriello type	MONDO_0009616	[Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.]
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	MONDO_0009615	[Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.]
methylmalonic aciduria, cblB type	MONDO_0009614	[An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.]
vitamin B12-responsive methylmalonic acidemia	MONDO_0017214	[Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).]
methylmalonic aciduria, cblA type	MONDO_0009613	[An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.]
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	MONDO_0009612	[Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.]
3-methylglutaconic aciduria type 4	MONDO_0009611	[3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).]
3-methylglutaconic aciduria type 1	MONDO_0009610	[3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.]
dorsum	UBERON_0001137	[A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column..]
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	MONDO_0010611	[A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.]
L1 syndrome	MONDO_0017140	[L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.]
cerebellar hemisphere	UBERON_0002245	[A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted].]
Galloway-Mowat syndrome	MONDO_0009627	[Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.]
pseudo-TORCH syndrome	MONDO_0009626	[A Mendelian disease characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.]
hemophilia A	MONDO_0010602	[The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.]
microcephaly and chorioretinopathy 1	MONDO_0009624	[An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.]