Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Pelizaeus-Merzbacher disease	Orphanet_702	[Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).]
Alopecia universalis	Orphanet_701	[Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.]
obsolete_alopecia totalis	Orphanet_700
hereditary sensory and autonomic neuropathy with spastic paraplegia	MONDO_0009748	[This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.]
Navajo neurohepatopathy	MONDO_0009747
hereditary sensory and autonomic neuropathy type 4	MONDO_0009746	[Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.]
neuronal ceroid lipofuscinosis 5	MONDO_0009745	[Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.]
obsolete_Guttmacher syndrome	Orphanet_2957	[Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.]
X-linked retinal dysplasia	MONDO_0010722
neuronal ceroid lipofuscinosis 1	MONDO_0009744	[A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.]
obsolete_Prata-Liberal-Goncalves syndrome	Orphanet_2956
X-linked retinoschisis	MONDO_0010725	[A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.]
neuroectodermal melanolysosomal disease	MONDO_0009742	[Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.]
obsolete_Ehlers-Danlos syndrome, musculocontractural type	Orphanet_2953	[Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.]
Rett syndrome	MONDO_0010726	[Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.]
neurofaciodigitorenal syndrome	MONDO_0009740	[Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.]
Adducted thumbs - arthrogryposis, Christian type	Orphanet_2952	[Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.]
X-linked intellectual disability, Schimke type	MONDO_0010729	[X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.]
Absent thumb - short stature - immunodeficiency	Orphanet_2951
SCARF syndrome	MONDO_0010728	[SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.]