Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
diverticulosis of bowel, hernia, and retinal detachment	MONDO_0009120	[A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.]
chromosome 15q13.3 microdeletion syndrome	MONDO_0012774	[15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.]
odontotrichomelic syndrome	MONDO_0010111	[Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.]
thoracomelic dysplasia	MONDO_0010116
Radio-ulnar synostosis - intellectual disability - hypotonia	Orphanet_3270
Synostosis - microcephaly - scoliosis	Orphanet_3268
aspartate(1-)	CHEBI_35391	[An alpha-amino-acid anion that is the conjugate base of aspartic acid.]
obsolete_familial lambdoid synostosis	Orphanet_3267
obsolete_humero-radio-ulnar synostosis	Orphanet_3266
Cupriavidus metallidurans CH34	NCBITaxon_266264
Humero-radial synostosis	Orphanet_3265
obsolete_IRVAN syndrome	Orphanet_209943
Syngnathia - cleft palate	Orphanet_3263
obsolete_syngnathia multiple anomalies	Orphanet_3262
tartrate(1-)	CHEBI_35397	[A 3-carboxy-2,3-dihydroxypropanoate that is the conjugate base of tartaric acid.]
obsolete_autoimmune lymphoproliferative syndrome	Orphanet_3261
dwarfism, intellectual disability, and eye abnormality	MONDO_0009128
duodenal atresia	MONDO_0009126	[Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.]
intestinal atresia	MONDO_0001045	[A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.]
non-syndromic gastroduodenal malformation	MONDO_0015209	[A gastroduodenal malformation that is not part of a larger syndrome.]