Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mosaic trisomy 3	MONDO_0015060	[Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.]
microgametophyte	PO_0025280	[A whole plant (PO:0000003) in the gametophyte development stage (PO:0028003) that produces plant sperm cells (PO:0000084).]
obsolete_partial deletion of the long arm of chromosome 11	Orphanet_262092
pollen	PO_0025281	[A microgametophyte (PO:0025280) that develops from a microspore (PO:0020048) is located in a pollen sac (PO:0025277).]
gallbladder neuroendocrine tumor, grade 1/2	MONDO_0015073	[A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.]
loxtidine	CHEBI_6550
megagametophyte	PO_0025279	[A whole plant in the gametophyte development stage (PO:0028003) that produces only plant egg cells (PO:0020094).]
Cyclamen persicum	NCBITaxon_87530
future diencephalon	UBERON_0006222	[The foremost region of the future forebrain that develops into the diencephalon.]
immunodeficiency, common variable, 14	MONDO_0054691
myopathy, centronuclear, 6, with fiber-type disproportion	MONDO_0054695
cloverleaf skull-asphyxiating thoracic dysplasia syndrome	MONDO_0015086
bathing suit ichthyosis	MONDO_0015085	[Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.]
obsolete_partial monosomy of the long arm of chromosome 10	Orphanet_262083
FRAXF syndrome	MONDO_0015084	[FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.]
proteasome-associated autoinflammatory syndrome 3	MONDO_0054699
alopecia antibody deficiency	MONDO_0015082
post-hyoid pharyngeal arch	UBERON_0008896	[A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher.]
familial hypofibrinogenemia	MONDO_0015096	[Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.]
Peters anomaly-cataract syndrome	MONDO_0015095