Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

Preferred Label : Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 267760;

Details

Origin ID

267760;

UMLS CUI

C2931831;

Currated CISMeF NLP mapping
- MacKay Shek Carr syndrome [MeSH concept]
- MacKay shek carr syndrome [MeSH Supplementary Concept]
- Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) [SNOMED CT concept]
- Retinal degeneration-nanophthalmos-glaucoma syndrome [ORDO Disease]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cystic macular degeneration [HPO term]
- Cystoid macular degeneration [HPO term]
- Glaucoma [HPO term]
- Hypermetropia [HPO term]
- Macular atrophy [HPO term]
- Microphthalmia [HPO term]
- Nyctalopia [HPO term]
- Progressive pigmentary retinal degeneration [HPO term]
- Retinal degeneration [HPO term]
- Shallow anterior chamber [HPO term]
ORDO concept(s)
- Retinal degeneration-nanophthalmos-glaucoma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MacKay Shek Carr syndrome [MeSH concept]
- MacKay shek carr syndrome [MeSH Supplementary Concept]
- Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) [SNOMED CT concept]
- Retinal degeneration-nanophthalmos-glaucoma syndrome [ORDO Disease]

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