Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Porphyromonas gingivalis	NCBITaxon_837
Cerebellar ataxia with peripheral neuropathy	Orphanet_207028
obsolete childhood hypophosphatasia	MONDO_0009428	[OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.]
obsolete infantile hypophosphatasia	MONDO_0009427	[OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.]
X-linked non progressive cerebellar ataxia	MONDO_0010404	[X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.]
hypoparathyroidism-retardation-dysmorphism syndrome	MONDO_0009426	[Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.]
albinism-hearing loss syndrome	MONDO_0010403	[A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.]
hypomandibular faciocranial dysostosis	MONDO_0009425	[Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.]
syndactyly-telecanthus-anogenital and renal malformations syndrome	MONDO_0010408	[This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.]
intellectual disability, X-linked syndromic, Turner type	MONDO_0010407	[An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.]
primary hypergonadotropic hypogonadism-partial alopecia syndrome	MONDO_0009420	[This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.]
syndromic X-linked intellectual disability Shrimpton type	MONDO_0010409	[X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.]
epithelium of bronchiole	UBERON_0002051	[An epithelium that is part of a bronchiole [Automatically generated definition].]
Bruton-type agammaglobulinemia	MONDO_0010421	[X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.]
obsolete_non-acquired pituitary hormone deficiency	Orphanet_95488
obsolete_isolated focal palmoplantar keratoderma	Orphanet_307846
main ciliary ganglion	UBERON_0002058	[A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve.]
parasympathetic nervous system	UBERON_0000011	[The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO].]
peripheral nervous system	UBERON_0000010	[A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.]
Bartonella quintana	NCBITaxon_803