Macular dystrophy, corneal

Preferred Label : Macular dystrophy, corneal;

Symbol : MCD;

CISMeF acronym : MCDC1; MCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal dystrophy, macular type; Groenouw type II corneal dystrophy; Macular corneal dystrophy, type I; Mcdc1;

Included titles and symbols : Macular corneal dystrophy, type II;

Inheritance : Autosomal recessive;

Prefixed ID : #217800;

Détails

Origin ID

217800;

UMLS CUI

C1636149;

Automatic exact mappings (from CISMeF team)
- Groenouw type I corneal dystrophy [PASCAL descriptor]
- Groenouw type II corneal dystrophy [PASCAL descriptor]
- MUC1 wt Allele [NCIt concept]
- Macular corneal dystrophy [ICD-11 More detail]
- Macular corneal dystrophy [ICD-9 code]
- Macular corneal dystrophy Type II (disorder) [SNOMED CT concept]
- Multicentric Castleman disease [ORDO Disease]
- Multiple carboxylase deficiency [ORDO Disease]
- corneal dystrophies, hereditary [MeSH Descriptor]
- macular corneal dystrophy, type II [MeSH concept]
- macular corneal dystrophy, type II [MeSH Supplementary Concept]
- malonyl-CoA decarboxylase [ORDO Gene]
- malonyl-CoA decarboxylase [HGNC gene]
- mucin 1, cell surface associated [ORDO Gene]
- mucin 1, cell surface associated [HGNC gene]
- multicentric Castleman disease [DO Concept]
- symbol withdrawn MCKD1 [HGNC gene]
Currated CISMeF NLP mapping
- Macular Corneal Dystrophy [NCIt concept]
- Macular corneal dystrophy [ORDO Disease]
- Macular corneal dystrophy [MedDRA LLT]
- Macular corneal dystrophy (disorder) [SNOMED CT concept]
- Macular corneal dystrophy Type I (disorder) [SNOMED CT concept]
- Macular dystrophy, corneal type 1 [MeSH concept]
- macular corneal dystrophy [DO Concept]
- macular corneal dystrophy [SNOMED Notion]
- macular corneal dystrophy type 1 [Disease (Nov.)]
- macular dystrophy, corneal [MeSH concept]
- macular dystrophy, corneal type 1 [MeSH Supplementary Concept]
DO Cross reference
- macular corneal dystrophy [DO Concept]
Genes related to phenotype
- Carbohydrate sulfotransferase 6 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Juvenile onset [HPO term]
- Macular dystrophy [HPO term]
- Minute, gray, punctate corneal opacities [HPO term]
- Photophobia [HPO term]
- Punctate opacification of the cornea [HPO term]
- Recurrent corneal erosions [HPO term]
ORDO concept(s)
- Macular corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- macular corneal dystrophy type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macular corneal dystrophy Type I (disorder) [SNOMED CT concept]
- Macular dystrophy, corneal type 1 [MeSH concept]
- macular corneal dystrophy type 1 [Disease (Nov.)]
- macular dystrophy, corneal type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- macular corneal dystrophy [Disease (Nov.)]

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