Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_generalized basaloid follicular hamartoma syndrome	Orphanet_168632
obsolete autosomal monosomy	MONDO_0015153
obsolete_genetic parenchymatous liver disease	Orphanet_156604
neurodegeneration with brain iron accumulation 8	MONDO_0054764
Mild global developmental delay	HP_0011342	[A mild delay in the achievement of motor or mental milestones in the domains of development of a child.]
Moderate global developmental delay	HP_0011343	[A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.]
Long upper lip	HP_0011341	[Increased width of the upper lip.]
obsolete_genetic biliary tract disease	Orphanet_156607
Severe global developmental delay	HP_0011344	[A severe delay in the achievement of motor or mental milestones in the domains of development of a child.]
salivary gland adenoid cystic carcinoma	MONDO_0003175	[An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.]
brain stem astrocytic neoplasm	MONDO_0003173	[An astrocytoma that arises from the brain stem.]
cutaneous adenocystic carcinoma	MONDO_0003180	[A adenoid cystic carcinoma that involves the skin of body.]
lung adenoid cystic carcinoma	MONDO_0003181	[A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.]
chronic diarrhea due to glucoamylase deficiency	MONDO_0015169	[This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.]
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure	Orphanet_168609
phosphatidylcholine 38:3	CHEBI_64446	[A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 38 carbons with 3 double bonds.]
polycystic liver disease 3 with or without kidney cysts	MONDO_0054743	[Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.]
combined oxidative phosphorylation deficiency 35	MONDO_0054742
combined oxidative phosphorylation deficiency 34	MONDO_0054741
metaphyseal anadysplasia	MONDO_0015177	[Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.]