The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types.
[orpha.net]
MH, which is a clinically heterogeneous autosomal dominant, pharmacogenetic disorder, with a reduced penetrance and variable expression, has been reported from many countries
[ispub.com]
MH is, however, a heterogeneous genetic disorder with at least five other susceptibility loci being identified.
[doi.org]
BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized by a progressive weakening and spasticity of the lower
[ncbi.nlm.nih.gov]
Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs.
[ncbi.nlm.nih.gov]
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders.
[ncbi.nlm.nih.gov]
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders associated with spastic paraparesis (pure HSP) with or without
[ncbi.nlm.nih.gov]
HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy.
[ncbi.nlm.nih.gov]
Abstract Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance.
[ncbi.nlm.nih.gov]
Abstract Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities.
[ncbi.nlm.nih.gov]
Distal hereditary motor neuronopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci.
[flybase.org]
Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy.
[ncbi.nlm.nih.gov]
Heart-hand syndrome Slovenian type: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac
[ab-y-ss.com]
Heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence
[antibodyplus.com]
Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations.
[genscript.com]
CFTD is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy.
[genscript.com]
In conclusion, this approach may be helpful for the identification of clinically undiagnosed patients with highly heterogeneous disorders.
[spandidos-publications.com]
Further application of this approach will be helpful for the identification of several undiagnosed patients with this type of highly heterogeneous disorder.
[spandidos-publications.com]
Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic
[scinapse.io]
AB - Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and
[moh-it.pure.elsevier.com]
Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations.
[abcam.com]
disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and
[flybase.org]
This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.
[ncbi.nlm.nih.gov]
Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options
[ncbi.nlm.nih.gov]
Definition Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders.
[uniprot.org]
UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 18: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders
[malacards.org]
Ataxias are a heterogeneous group of neurological disorders affecting individuals of all age groups and are characterized by the incoordination of voluntary movements.
[dnatesting.uchicago.edu]
Abstract Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spastic paraparesis
[neurology.org]
Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34.
[moldiag.com]
In the future prevalence studies will be based on the presence of specific gene mutations, but for uncommon, genetically heterogeneous disorders such as HSP this is not yet
[jnnp.bmj.com]
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a reduction in the mtDNA copy number.
[ncbi.nlm.nih.gov]
Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues
[ncbi.nlm.nih.gov]
Abstract Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected
[ncbi.nlm.nih.gov]
AB - Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje
[moh-it.pure.elsevier.com]
[…] a clinically and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness.
[journals.lww.com]
Folstein SE et. al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34.
[moldiag.com]
Hereditary Spastic Paraplegia Overview Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized
[dnatesting.uchicago.edu]
Introduction The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders united by the common feature of a prominent, progressive, length‐dependent axonopathy
[onlinelibrary.wiley.com]
A similar strategy is relevant for other heterogeneous neurological disorders.
[journals.plos.org]
Hereditary spastic paraplegia (HSP) Hereditary spastic paraplegia (HSP, SPG) is a genetic and clinical heterogeneous disorder for which mutations have been reported in more
[molgen.ua.ac.be]
[…] a clinically and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness.
[journals.lww.com]
Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34.
[moldiag.com]
(OMIM phenotype number #259700 ) Autosomal-recessive infantile malignant osteopetrosis is a severe, malignant, and heterogeneous genetic disorder.
[iofbonehealth.org]
disorder that share profound visual impairment from birth and occasionally other features from neurosensory hearing impairment to progressive renal failure).
[bcm.edu]
disorders, which can be divided into 2 subgroups: isolated hereditary optic atrophies and optic neuropathies as part of complex disorders. de Bei hereditären Optikusatrophien
[de.glosbe.com]
Abstract Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity.
[ncbi.nlm.nih.gov]
AB - The congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders.
[jhu.pure.elsevier.com]
Abstract Classical merosin (alpha2 laminin)-positive congenital muscular dystrophy is a heterogeneous subgroup of disorders; a few cases characterized by severe mental retardation
[discovery.ucl.ac.uk]
disorders involving topographically distinct nerves and muscles.
[ncbi.nlm.nih.gov]
Abstract Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles
[ncbi.nlm.nih.gov]
[…] muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous
[ncbi.nlm.nih.gov]
BACKGROUND: Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated
[ncbi.nlm.nih.gov]
Abstract Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders.
[ncbi.nlm.nih.gov]
Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders.
[ncbi.nlm.nih.gov]
Abstract Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body.
[ncbi.nlm.nih.gov]
In consanguineous families with autosomal recessive genetically heterogeneous disorders, it is possible to narrow down the candidate gene/genes by recognizing the regions
[e-ijd.org]
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification.
[ncbi.nlm.nih.gov]
AB - Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons
[miami.pure.elsevier.com]
[…] neurodegenerative disorders in which diagnostic evaluation is often challenging.
[jnnp.bmj.com]
[…] neurological disorders.
[jnnp.bmj.com]
disorders in which progressive difficulty walking due to spastic weakness of both legs is the predominant neurologic syndrome.
[mhmedical.com]
[…] a clinically and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness.
[journals.lww.com]
Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34.
[moldiag.com]
A similar strategy is relevant for other heterogeneous neurological disorders.
[journals.plos.org]
Table 1 Clinical features Key points The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of neurodegenerative disorders.
[jmg.bmj.com]
Introduction The spinocerebellar degenerative disorders; hereditary ataxias (HA) and hereditary spastic paraplegias (HSP) are heterogeneous disorders causing progressive gait
[journals.plos.org]
Severe Combined Immunodeficiency Severe, combined immunodeficiency (SCID) is a group of heterogeneous disorders associated with lack of both T- and B-cell function.
[slideshare.net]
Abraham, PhD // Date: NOV.1.2013 // Source: Clinical Laboratory News Severe combined immunodeficiencies (SCID) are a group of genetically heterogeneous disorders with a common
[aacc.org]
Severe combined immunodeficiencies (SCID) are a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function.
[clinicaltrials.gov]
PHP is a group of heterogeneous disorders defined by targeted organ (kidney and bone) resistance to the action of PTH.
[unboundmedicine.com]
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid hormone due to partial deficiency of the α subunit
[ncbi.nlm.nih.gov]
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone.
[ncbi.nlm.nih.gov]
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder.
[ncbi.nlm.nih.gov]
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be mapped.
[ncbi.nlm.nih.gov]
Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be mapped.
[discovery.ucl.ac.uk]
It is thus a heterogeneous disorder, with the same clinical manifestations being capable of being caused by multiple causes.
[news-medical.net]
disorder affecting motile cilia [ 3 ] which are made up of approximately 250 proteins. [ 4 ] Around 90% [ 5 ] of individuals with PCD have ultrastructural defects affecting
[sites.google.com]
Our data confirm that HMSN is a slowly progressive disorder that has a very heterogeneous phenotypical expression.
[ucdavis.pure.elsevier.com]
[…] group of disorders.
[jmg.bmj.com]
Abstract Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities.
[nature.com]
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance.
[ncbi.nlm.nih.gov]
Given that limb-girdle muscular dystrophy is a heterogeneous group of disorders, identification of the underlying genetic cause can help predict outcome and inform recurrence
[invitae.com]
Mitochondrial Myopathies These are a clinically and genetically heterogenous group of disorders that include mitochondrial encephalopathy with lactic acidosis and stroke-like
[lecturio.com]
The hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous disorders in which the predominant symptom is insidiously progressive, bilaterally symmetric
[neurology.org]
Systemic Features: This is a clinically heterogeneous disorder with extensive neurological deficits.
[disorders.eyes.arizona.edu]
Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. [^] 34.
[moldiag.com]
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain.
[ncbi.nlm.nih.gov]
[…] group of disorders with various biochemical defects of the respiratory chain (RC).
[karger.com]
[from GeneReviews ] From GeneReviews Overview Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial
[ncbi.nlm.nih.gov]
