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	morquio syndrome

Disease ID	778
Disease	morquio syndrome
Definition	Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonym	atypical chondrodystrophy brailsford-morquio syndrome chondro-osteodystrophy chondrodystrophia tarda chondroosteodystrophy disease, morquio disease, morquio's eccentro osteochondrodysplasia eccentro-osteochondrodysplasia eccentro-osteochondrodysplasias eccentroosteochondrodysplasia eccentroosteochondrodysplasias familial osseous dystrophy familial osteochondrodystrophy hereditary enchondral dysostosis iv, mucopolysaccharidosis type ivs, mucopolysaccharidosis type keratan sulfaturia keratan sulphaturia keratansulfaturia morquio - brailsford disease morquio dis morquio disease morquio disease, nos morquio syndrome (disorder) morquio syndrome, nos morquio syndromes morquio's disease morquio's syndrome morquio-brailsford disease morquio-brailsford syndrome morquio-suarez syndrome morquio-ullrich disease morquio-ullrich syndrome morquios dis morquios disease morquios syndrome mps 4 mps iv mucopolysaccharidosis 4 mucopolysaccharidosis iv mucopolysaccharidosis iv [disease/finding] mucopolysaccharidosis type iv mucopolysaccharidosis type ivs mucopolysaccharidosis, mps-iv osteochondrodysplasia osteochondrodystrophia deformans osteochondrodystrophy osteochondrodystrophy deformans, hereditary spondylo-epiphyseal dysplasia syndrome morquio's syndrome, morquio syndrome, morquio's syndromes, morquio type iv, mucopolysaccharidosis type ivs, mucopolysaccharidosis
Orphanet	ORPHANET:582
DOID	DOID:12804 DOID:2256
UMLS	C0026707
MeSH	D009085
SNOMED-CT	SNOMEDCT_US_2016_09_01:378007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0410528 \| skeletal dysplasia \| 3 C0086543 \| cataracts \| 2 C0010278 \| craniosynostosis \| 1 C0037928 \| myelopathy \| 1 C0017601 \| glaucoma \| 1 C0086543 \| cataract \| 1 C0008925 \| cleft palate \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:37) 1836 \| SLC26A2 \| GHR 2261 \| FGFR3 \| GHR 5034 \| P4HB \| UniProtKB-KW 1278 \| COL1A2 \| UniProtKB-KW;GHR 121340 \| SP7 \| UniProtKB-KW 9469 \| CHST3 \| GHR 4148 \| MATN3 \| GHR 60681 \| FKBP10 \| UniProtKB-KW 9871 \| SEC24D \| UniProtKB-KW 4041 \| LRP5 \| UniProtKB-KW 203859 \| ANO5 \| UniProtKB-KW 6687 \| SPG7 \| UniProtKB-KW 1277 \| COL1A1 \| UniProtKB-KW;GHR 2588 \| GALNS \| CTD_human 9321 \| TRIP11 \| GHR 1297 \| COL9A1 \| GHR 1298 \| COL9A2 \| GHR 860 \| RUNX2 \| GHR 6399 \| TRAPPC2 \| GHR 1280 \| COL2A1 \| GHR 5479 \| PPIB \| UniProtKB-KW 6662 \| SOX9 \| GHR 55151 \| TMEM38B \| UniProtKB-KW 1302 \| COL11A2 \| GHR 2720 \| GLB1 \| CTD_human 5352 \| PLOD2 \| UniProtKB-KW 1299 \| COL9A3 \| GHR 7471 \| WNT1 \| UniProtKB-KW 1311 \| COMP \| GHR 5176 \| SERPINF1 \| UniProtKB-KW 90993 \| CREB3L1 \| UniProtKB-KW 649 \| BMP1 \| UniProtKB-KW 387733 \| IFITM5 \| UniProtKB-KW 2317 \| FLNB \| GHR 10491 \| CRTAP \| UniProtKB-KW;GHR 871 \| SERPINH1 \| UniProtKB-KW 6678 \| SPARC \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:203) 6833 \| ABCC8 \| 1.735 \| DISEASES 176 \| ACAN \| 4.135 \| DISEASES 93 \| ACVR2B \| 1.304 \| DISEASES 55811 \| ADCY10 \| 1.43 \| DISEASES 1645 \| AKR1C1 \| 1.599 \| DISEASES 249 \| ALPL \| 1.996 \| DISEASES 265 \| AMELX \| 1.783 \| DISEASES 353 \| APRT \| 3.195 \| DISEASES 415 \| ARSE \| 2.448 \| DISEASES 347527 \| ARSH \| 5.808 \| DISEASES 54829 \| ASPN \| 1.653 \| DISEASES 460 \| ASTN1 \| 1.639 \| DISEASES 537 \| ATP6AP1 \| 1.217 \| DISEASES 126792 \| B3GALT6 \| 3.576 \| DISEASES 11177 \| BAZ1A \| 1.711 \| DISEASES 617 \| BCS1L \| 1.228 \| DISEASES 632 \| BGLAP \| 3.893 \| DISEASES 633 \| BGN \| 2.793 \| DISEASES 80114 \| BICC1 \| 1.055 \| DISEASES 650 \| BMP2 \| 2.783 \| DISEASES 8913 \| CACNA1G \| 1.183 \| DISEASES 796 \| CALCA \| 3.053 \| DISEASES 797 \| CALCB \| 1.084 \| DISEASES 801 \| CALM1 \| 2.44 \| DISEASES 865 \| CBFB \| 1.827 \| DISEASES 55755 \| CDK5RAP2 \| 2.468 \| DISEASES 1028 \| CDKN1C \| 3.217 \| DISEASES 55835 \| CENPJ \| 1.678 \| DISEASES 80254 \| CEP63 \| 1.762 \| DISEASES 9469 \| CHST3 \| 3.753 \| DISEASES 1186 \| CLCN7 \| 1.741 \| DISEASES 64084 \| CLSTN2 \| 1.7 \| DISEASES 54875 \| CNTLN \| 2.206 \| DISEASES 1301 \| COL11A1 \| 4.125 \| DISEASES 1302 \| COL11A2 \| 4.728 \| DISEASES 1280 \| COL2A1 \| 6.672 \| DISEASES 1287 \| COL4A5 \| 1.115 \| DISEASES 1289 \| COL5A1 \| 2.029 \| DISEASES 1297 \| COL9A1 \| 4.775 \| DISEASES 1298 \| COL9A2 \| 5.529 \| DISEASES 1299 \| COL9A3 \| 5.315 \| DISEASES 594855 \| CPLX3 \| 2.099 \| DISEASES 90993 \| CREB3L1 \| 2.516 \| DISEASES 79174 \| CRELD2 \| 2.096 \| DISEASES 10491 \| CRTAP \| 6.369 \| DISEASES 10491 \| CRTAP \| 3.677 \| DISEASES 1435 \| CSF1 \| 1.372 \| DISEASES 1499 \| CTNNB1 \| 1.554 \| DISEASES 5476 \| CTSA \| 3.776 \| DISEASES 1520 \| CTSS \| 1.222 \| DISEASES 9820 \| CUL7 \| 1.058 \| DISEASES 1649 \| DDIT3 \| 1.264 \| DISEASES 4921 \| DDR2 \| 1.704 \| DISEASES 65992 \| DDRGK1 \| 2.054 \| DISEASES 1747 \| DLX3 \| 2.629 \| DISEASES 1750 \| DLX6 \| 1.044 \| DISEASES 1785 \| DNM2 \| 1.448 \| DISEASES 285489 \| DOK7 \| 1.426 \| DISEASES 79659 \| DYNC2H1 \| 2.137 \| DISEASES 10117 \| ENAM \| 1.282 \| DISEASES 132884 \| EVC2 \| 1.81 \| DISEASES 118460 \| EXOSC6 \| 2.094 \| DISEASES 5393 \| EXOSC9 \| 1.409 \| DISEASES 2200 \| FBN1 \| 1.529 \| DISEASES 2224 \| FDPS \| 1.67 \| DISEASES 2246 \| FGF1 \| 2.745 \| DISEASES 2258 \| FGF13 \| 2.615 \| DISEASES 8822 \| FGF17 \| 1.879 \| DISEASES 2248 \| FGF3 \| 2.781 \| DISEASES 2253 \| FGF8 \| 2.039 \| DISEASES 2254 \| FGF9 \| 3.294 \| DISEASES 2260 \| FGFR1 \| 2.77 \| DISEASES 2263 \| FGFR2 \| 3.633 \| DISEASES 2261 \| FGFR3 \| 7.347 \| DISEASES 9158 \| FIBP \| 2.004 \| DISEASES 51661 \| FKBP7 \| 1.752 \| DISEASES 2316 \| FLNA \| 1.311 \| DISEASES 2317 \| FLNB \| 4.643 \| DISEASES 2331 \| FMOD \| 1.764 \| DISEASES 2305 \| FOXM1 \| 2.302 \| DISEASES 51343 \| FZR1 \| 1.184 \| DISEASES 25801 \| GCA \| 2.316 \| DISEASES 8200 \| GDF5 \| 3.398 \| DISEASES 2778 \| GNAS \| 1.262 \| DISEASES 92344 \| GORAB \| 1.131 \| DISEASES 23131 \| GPATCH8 \| 2.895 \| DISEASES 10082 \| GPC6 \| 3.402 \| DISEASES 3339 \| HSPG2 \| 1.461 \| DISEASES 3347 \| HTN3 \| 1.024 \| DISEASES 219844 \| HYLS1 \| 1.301 \| DISEASES 387733 \| IFITM5 \| 5.706 \| DISEASES 3481 \| IGF2 \| 1.194 \| DISEASES 3482 \| IGF2R \| 2.055 \| DISEASES 3486 \| IGFBP3 \| 1.792 \| DISEASES 3590 \| IL11RA \| 1.251 \| DISEASES 3767 \| KCNJ11 \| 1.164 \| DISEASES 10984 \| KCNQ1OT1 \| 1.735 \| DISEASES 374654 \| KIF7 \| 1.027 \| DISEASES 26013 \| L3MBTL1 \| 1.048 \| DISEASES 54900 \| LAX1 \| 2.78 \| DISEASES 51557 \| LGSN \| 3.939 \| DISEASES 3980 \| LIG3 \| 2.407 \| DISEASES 64327 \| LMBR1 \| 1.948 \| DISEASES 9361 \| LONP1 \| 1.341 \| DISEASES 79705 \| LRRK1 \| 1.339 \| DISEASES 57692 \| MAGEE1 \| 1.458 \| DISEASES 7873 \| MANF \| 1.779 \| DISEASES 5608 \| MAP2K6 \| 1.427 \| DISEASES 4146 \| MATN1 \| 3.203 \| DISEASES 4148 \| MATN3 \| 5.637 \| DISEASES 8785 \| MATN4 \| 3.439 \| DISEASES 79648 \| MCPH1 \| 1.352 \| DISEASES 79104 \| MEG8 \| 1.438 \| DISEASES 56955 \| MEPE \| 1.18 \| DISEASES 8076 \| MFAP5 \| 1.192 \| DISEASES 142678 \| MIB2 \| 1.314 \| DISEASES 4487 \| MSX1 \| 2.159 \| DISEASES 4519 \| MT-CYB \| 1.452 \| DISEASES 4541 \| MT-ND6 \| 1.802 \| DISEASES 342977 \| NANOS3 \| 1.766 \| DISEASES 4750 \| NEK1 \| 1.386 \| DISEASES 4758 \| NEU1 \| 2.771 \| DISEASES 51199 \| NIN \| 1.452 \| DISEASES 579 \| NKX3-2 \| 2.859 \| DISEASES 4881 \| NPR1 \| 1.233 \| DISEASES 4882 \| NPR2 \| 5.059 \| DISEASES 23467 \| NPTXR \| 1.871 \| DISEASES 190 \| NR0B1 \| 2.555 \| DISEASES 8481 \| OFD1 \| 1.612 \| DISEASES 4988 \| OPRM1 \| 3.553 \| DISEASES 344901 \| OSTN \| 1.751 \| DISEASES 5034 \| P4HB \| 1.85 \| DISEASES 9060 \| PAPSS2 \| 4.647 \| DISEASES 5083 \| PAX9 \| 1.393 \| DISEASES 5116 \| PCNT \| 4.331 \| DISEASES 79955 \| PDZD7 \| 1.434 \| DISEASES 5828 \| PEX2 \| 2.795 \| DISEASES 5238 \| PGM3 \| 1.604 \| DISEASES 5251 \| PHEX \| 1.21 \| DISEASES 162466 \| PHOSPHO1 \| 2.038 \| DISEASES 5333 \| PLCD1 \| 1.045 \| DISEASES 5358 \| PLS3 \| 3.239 \| DISEASES 5635 \| PRPSAP1 \| 1.861 \| DISEASES 5745 \| PTH1R \| 4.011 \| DISEASES 5744 \| PTHLH \| 3.907 \| DISEASES 6001 \| RGS10 \| 1.306 \| DISEASES 6023 \| RMRP \| 4.457 \| DISEASES 81847 \| RNF146 \| 1.528 \| DISEASES 55599 \| RNPC3 \| 1.87 \| DISEASES 100151683 \| RNU4ATAC \| 4.533 \| DISEASES 89970 \| RSPRY1 \| 2.44 \| DISEASES 860 \| RUNX2 \| 6.445 \| DISEASES 864 \| RUNX3 \| 2.673 \| DISEASES 84324 \| SARNP \| 1.343 \| DISEASES 871 \| SERPINH1 \| 4.176 \| DISEASES 6424 \| SFRP4 \| 1.638 \| DISEASES 6473 \| SHOX \| 6.566 \| DISEASES 6474 \| SHOX2 \| 3.183 \| DISEASES 10864 \| SLC22A7 \| 2.545 \| DISEASES 10861 \| SLC26A1 \| 2.981 \| DISEASES 284129 \| SLC26A11 \| 2.613 \| DISEASES 1811 \| SLC26A3 \| 3.222 \| DISEASES 65010 \| SLC26A6 \| 2.941 \| DISEASES 116369 \| SLC26A8 \| 3.618 \| DISEASES 115019 \| SLC26A9 \| 2.298 \| DISEASES 6597 \| SMARCA4 \| 3.006 \| DISEASES 50485 \| SMARCAL1 \| 5.993 \| DISEASES 6080 \| SNORA73A \| 1.13 \| DISEASES 6651 \| SON \| 1.128 \| DISEASES 6663 \| SOX10 \| 1.041 \| DISEASES 6657 \| SOX2 \| 1.021 \| DISEASES 6658 \| SOX3 \| 1.334 \| DISEASES 6660 \| SOX5 \| 3.218 \| DISEASES 55553 \| SOX6 \| 2.938 \| DISEASES 6696 \| SPP1 \| 2.417 \| DISEASES 200734 \| SPRED2 \| 1.344 \| DISEASES 10252 \| SPRY1 \| 1.219 \| DISEASES 6708 \| SPTA1 \| 1.169 \| DISEASES 8878 \| SQSTM1 \| 1.617 \| DISEASES 6736 \| SRY \| 4.236 \| DISEASES 6772 \| STAT1 \| 2.521 \| DISEASES 30968 \| STOML2 \| 1.78 \| DISEASES 6818 \| SULT1A3 \| 1.267 \| DISEASES 445329 \| SULT1A4 \| 1.292 \| DISEASES 8464 \| SUPT3H \| 2.271 \| DISEASES 202018 \| TAPT1 \| 2.561 \| DISEASES 9096 \| TBX18 \| 1.373 \| DISEASES 202500 \| TCTE1 \| 1.893 \| DISEASES 7059 \| THBS3 \| 2.871 \| DISEASES 79228 \| THOC6 \| 1.445 \| DISEASES 100038246 \| TLX1NB \| 5.033 \| DISEASES 55151 \| TMEM38B \| 5.063 \| DISEASES 114034 \| TOE1 \| 2.04 \| DISEASES 146691 \| TOM1L2 \| 2.702 \| DISEASES 6399 \| TRAPPC2 \| 4.453 \| DISEASES 7227 \| TRPS1 \| 2.385 \| DISEASES 7286 \| TUFT1 \| 1.299 \| DISEASES 51481 \| VCX3A \| 1.22 \| DISEASES 256764 \| WDR72 \| 1.443 \| DISEASES 8838 \| WISP3 \| 3.874 \| DISEASES 11060 \| WWP2 \| 1.905 \| DISEASES 25937 \| WWTR1 \| 1.247 \| DISEASES 124626 \| ZPBP2 \| 1.297 \| DISEASES
Locus	(Waiting for update.)

Disease ID	778
Disease	morquio syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0002652 \| Skeletal dysplasia \| 3 HP:0002176 \| Spinal cord compression \| 2 HP:0000518 \| Cataract \| 2 HP:0002983 \| Micromelia \| 1 HP:0002857 \| Genu valgum \| 1 HP:0008905 \| Rhizomelic short limbs \| 1 HP:0003414 \| Atlantoaxial subluxation \| 1 HP:0000501 \| Glaucoma \| 1 HP:0012531 \| Pain \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0030833 \| Neck pain \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0003467 \| Atlantoaxial instability \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0002949 \| Fused cervical vertebrae \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002196 \| Myelopathy \| 1 HP:0008845 \| Mesomelic dwarfism \| 1

Disease ID	778
Disease	morquio syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0086543 \| cataracts C0029408 \| osteoarthritis C0005941 \| bone dysplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0013336 \| dwarfism \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204437	8829629	2588	GALNS	umls:C0026707	BeFree	Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.	0.122714419	1996	GALNS	16	88824853	G	A
rs78311289	18000903	2261	FGFR3	umls:C0026707	BeFree	Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.	0.000542884	2007	FGFR3	4	1806162	A	C,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	778
Disease	morquio syndrome
Case	(Waiting for update.)

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