Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked intellectual disability, Pai type	MONDO_0019420	[X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.]
dermo-odonto dysplasia	MONDO_0007449	[Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.]
obsolete_polymicrogyria with optic nerve hypoplasia	Orphanet_250972
obsolete_PEHO syndrome	Orphanet_2836
dermatopathia pigmentosa reticularis	MONDO_0007445
obsolete_wrinkly skin syndrome	Orphanet_2834
congenital unilateral hypoplasia of depressor anguli oris	MONDO_0007443	[Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).]
obsolete_stiff skin syndrome	Orphanet_2833
Short tarsus - absence of lower eyelashes	Orphanet_2832	[Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.]
dentinogenesis imperfecta type 2	MONDO_0007441	[Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.]
obsolete_rhizomelic dysplasia, Patterson-Lowry type	Orphanet_2831
dentinogenesis imperfecta type 3	MONDO_0007442	[Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).]
congenital Gerbode defect	MONDO_0020428
AL amyloidosis	MONDO_0019438	[AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.]
Laubry-Pezzi syndrome	MONDO_0020427	[Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.]
AA amyloidosis	MONDO_0019439	[Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.]
obsolete_distal hereditary motor neuropathy type 7	Orphanet_139589
X-linked intellectual disability-ataxia-apraxia syndrome	MONDO_0019430	[X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.]
phytogenic insecticide	CHEBI_22917	[An insecticide compound naturally occurring in plants.]
atrial septal defect, ostium secundum type	MONDO_0020434