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MedGen

National Center for Biotechnology Information

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Items: 4

The following term was not found in MedGen: 6F.

Select item 4623511.

Retinitis pigmentosa 4

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

MedGen UID:: 462351
•Concept ID:: C3151001
•: Disease or Syndrome

Select item 3558522.

Congenital stationary night blindness autosomal dominant 1

Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

MedGen UID:: 355852
•Concept ID:: C1864869
•: Disease or Syndrome

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 863173.

Pigmentary retinal dystrophy

This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). [from OMIM]

MedGen UID:: 86317
•Concept ID:: C0311338
•: Congenital Abnormality

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 3308294.

Autosomal dominant slowed nerve conduction velocity

A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. [from SNOMEDCT_US]