Preferred Name

Scheie syndrome

Synonyms

mucopolysaccharidosis type V

Definitions

WD former synonym. A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.

ID

http://purl.obolibrary.org/obo/DOID_0060222

comment

WD former synonym.

created by

emitraka

creation_date

2014-11-26T11:32:20Z

database_cross_reference

OMIM:607016

ICD10CM:E76.0

GARD:12561

ORDO:93474

definition

A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.

has exact synonym

mucopolysaccharidosis type V

mucopolysaccharidosis type 1S

mucopolysaccharidosis type IS

has_obo_namespace

disease_ontology

id

DOID:0060222

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Scheie syndrome

notation

DOID:0060222

prefLabel

Scheie syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_12802

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