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Items: 1 to 20 of 103

1.

Dementia

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. [from HPO]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
2.

Frontotemporal dementia

The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [from GTR]

MedGen UID:
83266
Concept ID:
C0338451
Disease or Syndrome
3.

Paget disease of bone 2, early-onset

Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250. [from GTR]

MedGen UID:
865274
Concept ID:
C4016837
4.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
5.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
6.

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. [from ORDO]

MedGen UID:
797783
Concept ID:
CN205226
Disease or Syndrome
7.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
8.

Frontotemporal dementia

A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. [from HPO]

MedGen UID:
505124
Concept ID:
CN001944
Finding
9.

Neurofibromatosis-Noonan syndrome

A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. [from SNOMEDCT_US]

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
10.

Paget Disease

A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. [from NCI]

MedGen UID:
277958
Concept ID:
C1368019
Neoplastic Process
11.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
12.

Learning difficulties

MedGen UID:
98414
Concept ID:
C0424939
Finding
13.

Disability

Any physical or mental impairment that interferes with an individual's ability to perform desired activities. [from NCI]

MedGen UID:
66657
Concept ID:
C0231170
Finding
14.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
15.

Neurofibromas

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) [from MeSH]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
16.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
17.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GTR]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
18.

Paget disease of bone

Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs.Many people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease.Other complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking.A rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease.Early-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life. [from GTR]

MedGen UID:
10493
Concept ID:
C0029401
Disease or Syndrome
19.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
20.

Neurocognitive disorder

A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
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