Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial medullary thyroid carcinoma	MONDO_0007958	[An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.]
arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	MONDO_0032903
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	MONDO_0032900
Pai syndrome	MONDO_0007956	[Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.]
Catifa syndrome	MONDO_0032901
Hyphema	HP_0011886	[Bleeding in the anterior chamber of the eye.]
Plasmodium falciparum 3D7	NCBITaxon_36329
Binder syndrome	MONDO_0007953	[A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.]
obsolete May-Hegglin anomaly	MONDO_0007954
CEBALID syndrome	MONDO_0032908
49,XXXXY syndrome	MONDO_0019929	[The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.]
mitochondrial complex 3 deficiency, nuclear type 10	MONDO_0032909
spastic paraplegia 82, autosomal recessive	MONDO_0032906
lymphatic malformation 8	MONDO_0032907
reducing body myopathy	MONDO_0019948	[Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.]
rippling muscle disease 2	MONDO_0019947	[An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.]
zebra body myopathy	MONDO_0019949
hereditary continuous muscle fiber activity	MONDO_0019943	[Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.]
ligneous conjunctivitis	MONDO_0019946	[Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.]
hypertrichosis-acromegaloid facial appearance syndrome	MONDO_0019940	[Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.]