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Results: 1 to 20 of 33

1.

Iron deposition in globus pallidus

MedGen UID:
832928
Concept ID:
CN228287
Finding
2.

Genetic optic atrophy

Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss. [from ORDO]

MedGen UID:
831485
Concept ID:
CN226612
Finding
3.

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. [from ORDO]

MedGen UID:
831067
Concept ID:
CN204472
Disease or Syndrome
4.

Cerebellar gliosis

The presence of gliosis in the cerebellum. [from HPO]

MedGen UID:
776797
Concept ID:
CN185402
Finding
5.

Iron accumulation in substantia nigra

An anomalous build up of iron (Fe) in the substantia nigra. [from HPO]

MedGen UID:
776754
Concept ID:
CN185288
Finding
6.

Iron accumulation in globus pallidus

An abnormal build up of iron (Fe) in the globus pallidus. [from HPO]

MedGen UID:
776753
Concept ID:
CN185287
Finding
7.

Iron accumulation in brain

An abnormal build up of iron (Fe) in brain tissue. [from HPO]

MedGen UID:
776751
Concept ID:
CN185285
Finding
8.

Neurodegeneration

Progressive loss of neural cells and tissue. [from HPO]

MedGen UID:
505144
Concept ID:
CN001976
Finding
9.

Gliosis

The presence of gliosis in the central nervous system. [from HPO]

MedGen UID:
505139
Concept ID:
CN001968
Finding
10.

Cerebral cortical atrophy

Atrophy of the cortex of the cerebrum. [from HPO]

MedGen UID:
505113
Concept ID:
CN001920
Finding
11.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [from HPO]

MedGen UID:
504804
Concept ID:
CN001220
Finding
12.

Spasticity

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. [from HPO]

MedGen UID:
504771
Concept ID:
CN001152
Finding
13.

Muscular hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. [from HPO]

MedGen UID:
504768
Concept ID:
CN001147
Finding
14.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
15.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]

MedGen UID:
504537
Concept ID:
CN000609
Finding
16.

Muscular hypotonia of the trunk

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [from HPO]

MedGen UID:
446966
Concept ID:
CN007863
Finding
17.

Cerebellar cortical atrophy

Atrophy (wasting) of the cerebellar cortex. [from HPO]

MedGen UID:
428795
Concept ID:
CN007277
Finding
18.

Corpus callosum atrophy

The presence of atrophy (wasting) of the corpus callosum. [from HPO]

MedGen UID:
425896
Concept ID:
CN006452
Finding
19.

Karak syndrome

MedGen UID:
413789
Concept ID:
C2750220
Disease or Syndrome
20.

Dystonia with cerebellar atrophy

MedGen UID:
392987
Concept ID:
C2673697
Disease or Syndrome

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