Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
iridogoniodysgenesis	MONDO_0011119
obsolete_dystonia 16	Orphanet_210571
chromosome 15q26-qter deletion syndrome	MONDO_0012964	[Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.]
obsolete colobomatous microphthalmia	MONDO_0010303
Ito hypomelanosis	MONDO_0010302	[Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.]
obsolete_punctate palmoplantar keratoderma	Orphanet_307967
Andropogon gerardii	NCBITaxon_79824
Hallermann-Streiff syndrome	MONDO_0009318	[Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.]
obsolete hair defect-photosensitivity-intellectual disability syndrome	MONDO_0009316
congenital factor XII deficiency	MONDO_0009315	[Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.]
Grubben-de Cock-Borghgraef syndrome	MONDO_0009313	[Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.]
lipodystrophy due to peptidic growth factors deficiency	MONDO_0009312	[Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).]
osteopathia striata with cranial sclerosis	MONDO_0010310	[Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.]
Becker muscular dystrophy	MONDO_0010311	[Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.]
discharging ear	MONDO_0000988	[Discharge or drainage of fluid from the ear.]
obsolete left bundle branch block	MONDO_0000991	[OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed.]
pulmonary venoocclusive disease 2	MONDO_0009329	[A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.]
pulmonary venoocclusive disease	MONDO_0009937	[A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.]
creatine transporter deficiency	MONDO_0010305	[X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.]
congenital heart block	MONDO_0009326	[Heart block that occurs on or before 28 days of life.]