loading...| Preferred Name |
Mucopolysaccharidosis IV |
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| Synonyms |
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| 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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036693 |
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| 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 |
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| 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. |
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| label |
Mucopolysaccharidosis IV |
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| MCID |
MC00008457 |
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| PMOID |
PMO:00036693 |
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| prefixIRI |
pmo:PMO_00036693 |
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| prefLabel |
Mucopolysaccharidosis IV |
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| 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 |
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| 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 |
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| subClassOf |