Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Metaphyseal chondrodysplasia - retinitis pigmentosa	Orphanet_166035
Double inlet left ventricle	HP_0011555	[The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.]
primary localized amyloidosis	MONDO_0017817	[Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.]
lethal arteriopathy syndrome due to fibulin-4 deficiency	MONDO_0017818
atypical dentin dysplasia due to SMOC2 deficiency	MONDO_0017819
obsolete_metaphyseal chondrodysplasia, Kaitila type	Orphanet_166038
erythrokeratoderma en cocardes	MONDO_0017836	[Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.]
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	MONDO_0017837	[Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.]
sclerosteosis	MONDO_0017838	[Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.]
mild Canavan disease	MONDO_0017831	[Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.]
severe Canavan disease	MONDO_0017830	[Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.]
obsolete_pontocerebellar hypoplasia type 5	Orphanet_166068
obsolete_pontocerebellar hypoplasia type 4	Orphanet_166063
Common atrium	HP_0011565	[Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.]
autosomal dominant proximal renal tubular acidosis	MONDO_0017829	[Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.]
proximal renal tubular acidosis	MONDO_0008369	[Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.]
Siegler-Brewer-Carey syndrome	MONDO_0017849	[Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.]
Senior-Loken syndrome	MONDO_0017842	[Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.]
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	MONDO_0017840	[The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.]
acquired hemangioma	MONDO_0003206	[A hemangioma that is not present at birth but develops later in life.]