Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obesity due to pro-opiomelanocortin deficiency	MONDO_0012335	[Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.]
nitrogen atom	CHEBI_25555
talo-patello-scaphoid osteolysis	MONDO_0012330	[Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.]
hypophosphatemic rickets	MONDO_0024300	[Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.]
rickets	EFO_0005583	[Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities., A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.]
Ullrich congenital muscular dystrophy	MONDO_0000355	[Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.]
obsolete_low anorectal malformation	Orphanet_171215
acquired mineral metabolism disease	MONDO_0024301	[An instance of mineral metabolism disease that is acquired during the lifetime of the individual.]
spondylocostal dysostosis	MONDO_0000359	[Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).]
acquired lactic acidosis	MONDO_0024306	[An instance of lactic acidosis that is acquired during the lifetime of the individual.]
lactic acidosis	EFO_1000036	[Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia, Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.]
acquired hyperprolactinemia	MONDO_0024305	[An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.]
trichilemmal cyst	MONDO_0012328
inborn disorder of aspartate family metabolism	MONDO_0037938	[An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.]
phorbol 13-acetate 12-myristate	CHEBI_37537	[A phorbol ester that has formula C36H56O8., Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase.]
acral peeling skin syndrome	MONDO_0012345	[Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.]
peeling skin syndrome	MONDO_0019347	[Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.]
7q11.23 microduplication syndrome	MONDO_0012342	[7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.]
partial duplication of the long arm of chromosome 7	MONDO_0016958	[Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.]
congenital glaucoma	MONDO_0020366	[A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.]