Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hearing loss, autosomal dominant 75	MONDO_0032911
autosomal dominant primary microcephaly	MONDO_0007988	[Autosomal dominant form of microcephaly (disease).]
Coffin-Siris syndrome 11	MONDO_0032912
congenital microcoria	MONDO_0007989	[Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.]
metatropic dysplasia	MONDO_0007986	[Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.]
Schizosaccharomyces japonicus	NCBITaxon_4897
mitochondrial complex 1 deficiency, nuclear type 34	MONDO_0032910
Kniest dysplasia	MONDO_0007987	[Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).]
Schizosaccharomyces pombe	NCBITaxon_4896
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	MONDO_0007984	[Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.]
Fuchs' endothelial dystrophy	MONDO_0005321	[Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.]
obsolete_midgut	EFO_0001950	[The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm., The middle part of an alimentary canal., The part of the alimentary canal derived from the endoderm.]
metaphyseal chondrodysplasia, Jansen type	MONDO_0007982	[Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.]
Schmid metaphyseal chondrodysplasia	MONDO_0007983	[Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.]
obsolete_internal carotid artery	EFO_0001952
intellectual developmental disorder 62	MONDO_0032919
obsolete_inferior parietal lobule	EFO_0001951
hearing loss, autosomal dominant 76	MONDO_0032917
obsolete_external carotid artery	EFO_0001953
developmental and epileptic encephalopathy, 84	MONDO_0032918