Malignant Hyperthermia
MH is, however, a heterogeneous genetic disorder with at least five other susceptibility loci being identified.[doi.org]
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]
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]
Jejunal Diverticulosis
We conclude that (a) intestinal pseudoobstruction is a major clinical manifestation of jejunal diverticulosis, (b) jejunal diverticulosis is a heterogenous disorder associated[ncbi.nlm.nih.gov]
A heterogenous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus.[unboundmedicine.com]
A heterogeneous disorder caused by a variety of abnormalities of smooth muscleor myenteric plexus. Gastroenterology. 1983; 85;538-547. 6. Wilcox RD, Shatney CH.[abdominalsurg.org]
Overeating
Engelsk definition A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including[mesh.kib.ki.se]
Pure Hereditary Spastic Paraplegia
Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs.[ncbi.nlm.nih.gov]
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]
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders.[ncbi.nlm.nih.gov]
Acral Peeling Skin Syndrome
APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity.[ncbi.nlm.nih.gov]
Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder.[ncbi.nlm.nih.gov]
Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA: Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.[karger.com]
Hereditary Spastic Paraplegia
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]
Distal Hereditary Motor Neuropathy
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]
Congenital Myopathy with Excess of Thin Filaments
In conclusion, this approach may be helpful for the identification of clinically undiagnosed patients with highly heterogeneous disorders.[spandidos-publications.com]
The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed.[karger.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]
Acute Myeloid Leukemia with Myelodysplasia-related Changes
OBJECTIVES: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous disorder defined by morphologic, genetic, or clinical features.[ncbi.nlm.nih.gov]
RESULTS: Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within[ncbi.nlm.nih.gov]
[…] seem straightforward for AML-MRC, identification of morphologic dysplasia among observers is not always consistent, and there is morphologic overlap with other leukemic disorders[ncbi.nlm.nih.gov]
Polycystic Ovary Syndrome
Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. There is evidence for a genetic component in PCOS based on familial clustering of cases.[ncbi.nlm.nih.gov]
PCOS pathophysiology combines reproductive and metabolic abnormalities into a heterogeneous disorder that has pervasive and devastating health consequences.[ncbi.nlm.nih.gov]
BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder characterized by chronic ovulatory dysfunction, hyperandrogenism, and polycystic ovaries.[ncbi.nlm.nih.gov]