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Items: 5

1.

Spinocerebellar ataxia, autosomal recessive 2

Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by Jobling et al., 2015). [from OMIM]

MedGen UID:
349134
Concept ID:
C1859298
Disease or Syndrome
2.

Healing scar

A permanent mark left on the skin in the process of wound healing.(NICHD) [from NCI]

MedGen UID:
384469
Concept ID:
C2004491
Pathologic Function
3.

Protrusion

MedGen UID:
90702
Concept ID:
C0333056
Anatomical Abnormality
4.

Signaling Pathway

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
5.

Wiskott-Aldrich syndrome 2

MedGen UID:
482631
Concept ID:
C3281001
Disease or Syndrome
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