Term: | Abnormality of hand joint mobility |
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Accession: | HP:0006256
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browse the term
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Synonyms: | xref: | UMLS:C4025076 |
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CCN6 |
cellular communication network factor 6 |
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IAGP |
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HPO |
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ORPHA:1159 |
NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
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FLNC |
filamin C |
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IAGP |
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HPO |
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ORPHA:63273 |
NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
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GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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ORPHA:576 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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HNRNPDL |
heterogeneous nuclear ribonucleoprotein D like |
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IAGP |
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HPO |
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OMIM:609115 |
NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
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KRT1 |
keratin 1 |
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IAGP |
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HPO |
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ORPHA:530838 |
NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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OMIM:613563 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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OMIM:166200 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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OMIM:130050 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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ORPHA:93308 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
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HPO |
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OMIM:618870 |
NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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HYAL1 |
hyaluronidase 1 |
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IAGP |
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HPO |
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OMIM:601492 |
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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NLRP1 |
NLR family pyrin domain containing 1 |
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IAGP |
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HPO |
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OMIM:615225 |
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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P4HTM |
prolyl 4-hydroxylase, transmembrane |
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IAGP |
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HPO |
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OMIM:618493 |
NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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OMIM:244200 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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OMIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RNF13 |
ring finger protein 13 |
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IAGP |
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HPO |
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ORPHA:544503 |
NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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OMIM:617557 ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ASAH1 |
N-acylsphingosine amidohydrolase 1 |
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IAGP |
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HPO |
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OMIM:228000 |
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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OMIM:115150 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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OMIM:617821 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
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HPO |
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OMIM:130000 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Finger joint hyperextensibility ClinVar Annotator: match by term: Hyperextensibility of the finger joints |
ClinVar |
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
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NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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OMIM:616914 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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OMIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GORAB |
golgin, RAB6 interacting |
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IAGP |
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HPO |
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OMIM:231070 |
NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
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HDAC4 |
histone deacetylase 4 |
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IAGP |
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HPO |
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OMIM:619797 |
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:218040 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IFITM5 |
interferon induced transmembrane protein 5 |
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IAGP |
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HPO |
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OMIM:610967 |
NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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OMIM:135500 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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OMIM:309520 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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NFASC |
neurofascin |
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IAGP |
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HPO |
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OMIM:618356 |
NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
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OTUD6B |
OTU deubiquitinase 6B |
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IAGP |
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HPO |
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ORPHA:505237 |
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:488635 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PKDCC |
protein kinase domain containing, cytoplasmic |
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IAGP |
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HPO |
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OMIM:618821 |
NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
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PLAA |
phospholipase A2 activating protein |
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IAGP |
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HPO |
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ORPHA:521426 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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PRR12 |
proline rich 12 |
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IAGP |
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HPO |
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OMIM:619539 |
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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OMIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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OMIM:303600 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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SMS |
spermine synthase |
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IAGP |
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HPO |
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OMIM:309583 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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OMIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
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HPO |
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OMIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:75840 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
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HPO |
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OMIM:254090 ORPHA:75840 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:75840 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:75840 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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ORPHA:750 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
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HPO |
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ORPHA:2614 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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Term paths to the root
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