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Items: 1 to 20 of 39

1.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
2.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
3.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
4.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Mental or Behavioral Dysfunction
5.

Paraparesis

A slight paralysis or weakness of both legs. [from NCI]

MedGen UID:
113150
Concept ID:
C0221166
Sign or Symptom
6.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
7.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Abnormality of the cerebellum

An abnormality of the cerebellum. [from HPO]

MedGen UID:
400925
Concept ID:
C1866129
Finding
11.

History

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
12.

Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
13.

Family history

A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. [from NCI]

MedGen UID:
69143
Concept ID:
C0241889
Finding
14.

Progressive

Advancing in extent or severity. [from NCI]

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

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
16.

Spastic paraparesis

Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways. [from MeSH]

MedGen UID:
52432
Concept ID:
C0037771
Sign or Symptom
17.

Paraparesis, Hypotonic

MedGen UID:
148414
Concept ID:
C0751906
Sign or Symptom
18.

Spinal paraparesis

MedGen UID:
124457
Concept ID:
C0278119
Sign or Symptom
19.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
20.

Cerebral paraparesis

MedGen UID:
75810
Concept ID:
C0278118
Sign or Symptom
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