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obsolete Choroidal sclerosis

MedGen UID:
137998
Concept ID:
C0344297
Disease or Syndrome
Synonyms: Choroidal sclerosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Choroidal degeneration (406446000); Choroidal sclerosis (247199007)
 
OMIM®: 215500; 303100

Clinical features

Choriocapillaris atrophy
MedGen UID:
477389
Concept ID:
C3275758
Finding
Atrophy of the capillary lamina of choroid.

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