Mucopolysaccharidoses, unclassified types

Preferred Label : Mucopolysaccharidoses, unclassified types;

Obsolete resource : true;

Moved to : 607014; 607016;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : 252700;

Détails

Origin ID

252700;

UMLS CUI

C0220752;

Currated CISMeF NLP mapping
- mucopolysaccharidoses, unclassified types [MeSH concept]
- mucopolysaccharidoses, unclassified types [MeSH Supplementary Concept]
DO Cross reference
- mucopolysaccharidosis [DO Concept]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Corneal opacity [HPO term]
- Fibroblast metachromasia [HPO term]
- Finger swelling [HPO term]
- Growth abnormality [HPO term]
- Mucopolysacchariduria [HPO term]
- Mucopolysacchariduria [HPO term]
- Opacification of the corneal stroma [HPO term]
- Progressive joint destruction [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mucopolysaccharidoses, unclassified types [MeSH Supplementary Concept]
- mucopolysaccharidoses, unclassified types [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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