Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
MUTYH-related attenuated familial adenomatous polyposis	MONDO_0012041	[An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.]
classic familial adenomatous polyposis	MONDO_0021055	[Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.]
obsolete_autism spectrum disorder due to AUTS2 deficiency	Orphanet_352490
Aplasia/Hypoplasia of the corpus callosum	HP_0007370	[Absence or underdevelopment of the corpus callosum.]
Abnormal corpus callosum morphology	HP_0001273	[Abnormality of the corpus callosum.]
microvascular complications of diabetes, susceptibility	MONDO_0000065
Escherichia coli str. K-12 substr. MG1655	NCBITaxon_511145
legionnaire disease, susceptibility to	MONDO_0012057
whole plant fruit formation stage 70% to final size	PO_0007027	[A whole plant fruit formation stage (PO:0007042) that spans the interval when the average size of fruits (PO:0009001) on a whole plant (PO:0000003) has reached 70% of its final size to its final size.]
whole plant fruit formation stage	PO_0007042	[A whole plant fruit development stage (PO:0025500) that begins when a fruit (PO:0009001) on a whole plant (PO:0000003) that is not currently participating in a whole plant fruit development stage begins a fruit initiation stage (PO:0025503) and ends with the onset of a whole plant fruit ripening stage (PO:0007010). [ Poc:curators ] ]
FL.00 first flower(s) open stage	PO_0007026	[10% of flowers to be produced have opened, The stage at which the first flower(s) open.]
Larsen-like osseous dysplasia-short stature syndrome	MONDO_0012055	[Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.]
FL.04 end of flowering stage	PO_0007024	[The stage at which flowering is complete.]
ALG1-CDG	MONDO_0012052	[A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).]
seed imbibition stage	PO_0007022	[A germination stage during which there is absorption of water by the seed.]
acrocephalosyndactyly	MONDO_0019796	[Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.]
mycobacterium tuberculosis, susceptibility	MONDO_0000070
Granulocytosis	HP_0032310	[An increased count of granulocytes in the peripheral blood circulation.]
mid whole plant fruit ripening stage	PO_0007031	[The stage when fruit ripening is midway.]
whole plant fruit ripening complete stage	PO_0007038	[The stage at which fruit ripening is complete.]