Doyne honeycomb retinal dystrophy

Preferred Label : Doyne honeycomb retinal dystrophy;

Symbol : DHRD;

CISMeF acronym : DHD; DHRD; MLVT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Doyne honeycomb degeneration of retina; DHD; MLVT; Malattia leventinese; Drusen, radial, autosomal dominant;

Inheritance : Autosomal dominant; ? same as drusen of Bruch membrane;

Prefixed ID : #126600;

Details

Origin ID

126600;

UMLS CUI

C1832174;

Automatic exact mappings (from CISMeF team)
- Dissociated horizontal deviation [ICD-11 More detail]
- EFEMP1 wt Allele [NCIt concept]
- Horizontal dissociated gaze palsy (disorder) [SNOMED CT concept]
- drusen, radial, autosomal dominant [MeSH concept]
- drusen, radial, autosomal dominant [MeSH Supplementary Concept]
- symbol withdrawn DHRD [HGNC gene]
Currated CISMeF NLP mapping
- Dominant drusen (disorder) [SNOMED CT concept]
- Doyne honeycomb retinal dystrophy [DO Concept]
- Doyne honeycomb retinal dystrophy [MeSH concept]
- Familial drusen [ICD-11 More detail]
- Familial drusen [ORDO Disease]
- Malattia Leventinese [ICD-11 More detail]
- Malattia leventinese [Disease (Nov.)]
- doyne honeycomb retinal dystrophy [MeSH Supplementary Concept]
- malattia leventinese [MeSH concept]
DO Cross reference
- Doyne honeycomb retinal dystrophy [DO Concept]
Genes related to phenotype
- Egf-containing fibulin-like extracellular matrix protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Reticular pigmentary degeneration [HPO term]
- Retinal dystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Familial drusen [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dominant drusen (disorder) [SNOMED CT concept]
- Doyne honeycomb retinal dystrophy [MeSH concept]
- Doyne honeycomb retinal dystrophy [DO Concept]
- doyne honeycomb retinal dystrophy [MeSH Supplementary Concept]
- drusen, radial, autosomal dominant [MeSH Supplementary Concept]

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