PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Dysostosis Multiplex

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00013953

Database_Cross_Reference

SNOMEDCT_US:75610003

RCD:X40Vy

SNOMEDCT_US:65327002

OMIM:607014

MTH:NOCODE

SNOMEDCT_US:254069004

CSP:1849-6334

CCPSS:0010694

MEDCIN:38229

NCI:C61261

MDR:10020471

MSH:D008059

MDR:10028048

OMIM:MTHU007185

OMIM:252800

SNMI:D6-70112

JABL:463

CHV:0000047707

ICPC2P:T80001

SNOMEDCT_US:190936000

HPO:HP:0000943

MEDCIN:33580

DXP:NOCODE

MTHICD9:277.5

SNM:D-3811

SNMI:D6-70110

RCD:X789y

ICD10CM:E76.01

MDR:10020470

SNOMEDCT_US:190938004

CHV:0000016009

label

Dysostosis Multiplex

MCID

MC00043809

PMOID

PMO:00013953

prefixIRI

pmo:PMO_00013953

prefLabel

Dysostosis Multiplex

Synonym

Mucopolysaccharidosis, MPS-I-H

Syndrome, Hurler's

Hurler Syndrome Gargoylism

HURLER DIS

Mucopolysaccharidosis Type Ihs

Pfaundler-Hurler syndrome

Disease;Hurlers

Dysostosis multiplex (disorder)

chondro-osteodystrophy-corneal

opacities-hepatosplenomegaly mental deficiency syndrome

gargoyle syndrome (diagnosis)

Mucopolysaccharidosis, MPS-I-H (disorder)

Hurler disease MPS type 1H

Mucopolysaccharidosis type I-H (disorder)

L-iduronidase deficiency, Hurler type

L-iduronidase deficiency, NOS

HURLER SYNDROME

dysostotic idiocy-gargoylism-lipochondrodystrophy syndrome

HURLERS DIS

mucopolysaccharidosis type 1H (Hurler)

Gargoylism, Hurler Syndrome

Disease, Hurler's

Type Ihs, Mucopolysaccharidosis

Hurler's syndrome

Ellis-Sheldon syndrome

Type Ih, Mucopolysaccharidosis

hurlers

MPS 1-H-Mucopolysaccharid I-H

Gargoylism

Lipochondrodystrophy

Gargoylisms

Dysostosis multiplex syndrome

Mucopolysaccharidos I severe

MPS I H

MPS1-H

Mucopolysaccharidosis type I-H

hurlers syndrome

MPS 1-H - Mucopolysaccharidosis type I-H

Thompson syndrome

hurlers disease

HURLER

Hurler disease

type I-H mucopolysaccharidosis (diagnosis)

gargoyle syndrome

Mucopolysaccharidosis Type IH

Hurler-Pfaundler syndrome

Dysostosis multiplex

type I-H mucopolysaccharidosis

Mucopolysaccharidosis type I severe form

hurler's disease

Johnie McL syndrome

Tree Number

T3.15.4.4

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00011671

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