Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
developmental defect during embryogenesis	MONDO_0019755	[A disease that has its basis in the disruption of embryonic morphogenesis.]
nemaline myopathy 8	MONDO_0014138	[An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.]
severe congenital nemaline myopathy	MONDO_0015735	[Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.]
precocious puberty, central, 2	MONDO_0014137	[Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.]
central precocious puberty	MONDO_0019165	[Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).]
regulation of mitotic nuclear division	GO_0007088	[Any process that modulates the frequency, rate or extent of mitosis.]
regulation of cell cycle	GO_0051726	[Any process that modulates the rate or extent of progression through the cell cycle.]
1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine	CHEBI_75034	[A phosphatidylcholine 36:1 in which the phosphatidyl acyl groups at positions 1 and 2 are stearoyl and oleoyl respectively.]
multiple mitochondrial DNA deletion syndrome	MONDO_0016797	[A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.]
ataxia neuropathy spectrum	MONDO_0016798
chordo neural hinge	UBERON_0007097	[Portion of tissue that is posterior to the developing notochord during tail bud extension.]
post-anal tail bud	UBERON_0002533	[The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node.]
maternally-inherited mitochondrial myopathy	MONDO_0016794
mitochondrial DNA depletion syndrome, encephalomyopathic form	MONDO_0016796	[Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.]
obsolete_pseudohypoaldosteronism type 2D	Orphanet_300525
obsolete_Hypospadias - hypertelorism - coloboma and deafness	Orphanet_157788	[Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss.]
multiple mitochondrial dysfunctions syndrome 3	MONDO_0014132	[Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.]
fatal multiple mitochondrial dysfunctions syndrome	MONDO_0017338	[Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.]
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	MONDO_0014131
fallopian tube neoplasm	MONDO_0021092	[A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.]