PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Mucopolysaccharidosis IV
Synonyms
Definitions

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036693

Database_Cross_Reference

DO:DOID:12804

MTH:NOCODE

JABL:466

MDR:10028095

MEDCIN:273603

CSP:1849-6163

NDFRT:N0000002046

MDR:10027983

CHV:0000008311

DO:DOID:0050808

ICD10CM:E76.219

DXP:U001212

RCD:C3754

RCD:X70BZ

SNM:M-22520

RCD:XE11o

SNOMEDCT_US:190936000

SNM:D-3816

SNMI:D6-70240

MSH:D009085

MEDCIN:33586

DXP:NOCODE

NCI:C61263

MTHICD9:277.5

SNOMEDCT_US:378007

Definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

label

Mucopolysaccharidosis IV

MCID

MC00008457

PMOID

PMO:00036693

prefixIRI

pmo:PMO_00036693

prefLabel

Mucopolysaccharidosis IV

Synonym

Mucopolysaccharidosis type IV

eccentrochondrodysplasia

Eccentroosteochondrodysplasias

Eccentroosteochondrodysplasia

Mucopolysaccharidosis, type IV (MPS IV)

Morquios Syndrome

Morquio syndrome

Morquio's syndrome

morquio's disease

Morquio syndrome, NOS

Brailsford-Morquio syndrome

Morquio's Disease

MORQUIOS DIS

IVs, Mucopolysaccharidosis Type

mucopolysaccharidosis IV

Type IV, Mucopolysaccharidosis

hereditary osteochondrodystrophy

galactosamine-6-sulfatase deficiency

IV, Mucopolysaccharidosis Type

mucopolysaccharidosis type IV (diagnosis)

KS mucopolysaccharidosis

MPS 4

Mucopolysaccharidosis, MPS-IV

Morquio disease, NOS

ECCENTRO OSTEOCHONDRODYSPLASIA

syndrome morquio's

Syndrome, Morquio's

Morquio Syndromes

Mucopolysaccharidosis IV [Disease/Finding]

familial osseous dystrophy

morquio's syndrome

hereditary chondrodysplasia

Morquio syndrome (disorder)

Morquio disease

OSTEOCHONDRODYSTROPHY DEFORMANS, HEREDITARY

Mucopolysaccharidosis Type IVs

mucopolysaccharidosis type IV

Keratan sulfaturia

Morquio-Brailsford disease

morquio disease

osteochondrodystrophy

deficiency of chondroitinsulphatase

Morquio syndrome or disease

Morquio Syndrome

morquios syndrome

Osteochondrodystrophia deformans

dysostosis enchondralis metaepiphysaria

chondroosteodystrophy

eccentro-osteochondrodysplasia

Type IVs, Mucopolysaccharidosis

Mucopolysaccharidosis 4

Chondro-osteodystrophy

Syndromes, Morquio

morquio syndrome

Keratan sulphaturia

osteochondrodysplasia

Eccentro-Osteochondrodysplasia

osteochondrodystrophia deformans

hereditary polytopic enchondral dysostosis

osteochondrodystrophy (diagnosis)

Morquios Disease

KERATANSULFATURIA

Eccentro Osteochondrodysplasia

deficiency of N-acetylgalactosamine-6-sulphatase

MORQUIO-BRAILSFORD SYNDROME

spondylo-epiphyseal dysplasia

mucopolysaccharidosis (MPS) IV (A, B)

Morquio's Syndrome

MORQUIO-ULLRICH SYNDROME

MPS IV

MORQUIO DIS

Morquio-Ullrich syndrome or disease

Brailsford syndrome or disease

Mucopolysaccharidosis, type IV

Mucopolysaccharidosis Type IV

Morquio - Brailsford disease

Disease, Morquio's

MORQUIO SYNDROME

Morquio-Brailsford syndrome or disease

chondro-osteodystrophy

Hereditary enchondral dysostosis

Atypical chondrodystrophy

Morquio-Ullrich disease

Familial osteochondrodystrophy

eccentroosteochondrodysplasia

Chondrodystrophia tarda

mucopolysaccharide storage disease IV

Osteochondrodystrophy

Disease, Morquio

Familial osseous dystrophy

Syndrome, Morquio

Morquio-Suarez syndrome

MUCOPOLYSACCHARIDOSIS IV

chondrodystrophia tarda

atypical chondrodystrophy

Morquio Disease

Eccentro-Osteochondrodysplasias

Osteochondrodysplasia

chondrodystrophia congenita tarda

keratansulfaturia

Tree Number

T9.8.4.14.15.12.2

T9.11.1.12.3.2.2

T9.14.2.25.1.2

T9.8.4.14.3.2.2

T9.11.1.12.15.12.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036689

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