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encyclopedia of Rare Disease Annotation for Precision Medicine

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	brachydactyly

Disease ID	716
Disease	brachydactyly
Definition	Congenital anomaly of abnormally short fingers or toes.
Synonym	brachydactylia brachydactylias brachydactylies brachydactylism brachydactylisms brachydactyly (disorder) brachydactyly [disease/finding] brachydactyly nos brachydactyly nos (disorder) brachydactyly syndrome
Orphanet	ORPHANET:294937
DOID	DOID:0050581
UMLS	C0221357
MeSH	D059327
SNOMED-CT	SNOMEDCT_US_2016_09_01:43476002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0020538 \| hypertension \| 2 C0004352 \| autism \| 1 C0751651 \| mitochondrial disorder \| 1 C0022408 \| arthropathy \| 1 C0410528 \| skeletal dysplasia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 2778 \| GNAS \| CTD_human 3549 \| IHH \| UNIPROT 3239 \| HOXD13 \| UNIPROT 9759 \| HDAC4 \| CTD_human 658 \| BMPR1B \| UNIPROT 4920 \| ROR2 \| UNIPROT 8200 \| GDF5 \| UNIPROT 4089 \| SMAD4 \| CTD_human 650 \| BMP2 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:130) 176 \| ACAN \| 1.113 \| DISEASES 87 \| ACTN1 \| 1.883 \| DISEASES 81792 \| ADAMTS12 \| 2.215 \| DISEASES 9719 \| ADAMTSL2 \| 4.771 \| DISEASES 103 \| ADAR \| 1.384 \| DISEASES 84890 \| ADO \| 1.048 \| DISEASES 212 \| ALAS2 \| 1.303 \| DISEASES 29929 \| ALG6 \| 2.346 \| DISEASES 257 \| ALX3 \| 1.171 \| DISEASES 60529 \| ALX4 \| 1.641 \| DISEASES 415 \| ARSE \| 1.068 \| DISEASES 546 \| ATRX \| 2.487 \| DISEASES 650 \| BMP2 \| 1.246 \| DISEASES 51161 \| C3orf18 \| 2.701 \| DISEASES 9254 \| CACNA2D2 \| 2.125 \| DISEASES 91687 \| CENPL \| 3.271 \| DISEASES 84181 \| CHD6 \| 2.58 \| DISEASES 9469 \| CHST3 \| 2.706 \| DISEASES 54875 \| CNTLN \| 1.402 \| DISEASES 1301 \| COL11A1 \| 1.121 \| DISEASES 1280 \| COL2A1 \| 3.928 \| DISEASES 1297 \| COL9A1 \| 1.809 \| DISEASES 1298 \| COL9A2 \| 1.745 \| DISEASES 1299 \| COL9A3 \| 1.954 \| DISEASES 51241 \| COX16 \| 3.474 \| DISEASES 9946 \| CRYZL1 \| 2.08 \| DISEASES 10283 \| CWC27 \| 3.475 \| DISEASES 1538 \| CYLC1 \| 1.678 \| DISEASES 1539 \| CYLC2 \| 2.914 \| DISEASES 8816 \| DCAF5 \| 3.2 \| DISEASES 9077 \| DIRAS3 \| 1.573 \| DISEASES 1745 \| DLX1 \| 2.966 \| DISEASES 26052 \| DNM3 \| 3.686 \| DISEASES 11266 \| DUSP12 \| 1.409 \| DISEASES 1855 \| DVL1 \| 1.237 \| DISEASES 2045 \| EPHA7 \| 3.205 \| DISEASES 2079 \| ERH \| 1.973 \| DISEASES 132884 \| EVC2 \| 1.372 \| DISEASES 51013 \| EXOSC1 \| 1.896 \| DISEASES 23404 \| EXOSC2 \| 3.277 \| DISEASES 51010 \| EXOSC3 \| 2.543 \| DISEASES 11340 \| EXOSC8 \| 2.833 \| DISEASES 2131 \| EXT1 \| 2.333 \| DISEASES 2159 \| F10 \| 2.046 \| DISEASES 92002 \| FAM58A \| 2.989 \| DISEASES 2200 \| FBN1 \| 4.265 \| DISEASES 80204 \| FBXO11 \| 2.136 \| DISEASES 2245 \| FGD1 \| 3.678 \| DISEASES 2260 \| FGFR1 \| 1.488 \| DISEASES 2263 \| FGFR2 \| 2.253 \| DISEASES 2261 \| FGFR3 \| 3.031 \| DISEASES 2314 \| FLII \| 1.33 \| DISEASES 2317 \| FLNB \| 1.331 \| DISEASES 2296 \| FOXC1 \| 1.027 \| DISEASES 8200 \| GDF5 \| 5.417 \| DISEASES 2731 \| GLDC \| 1.721 \| DISEASES 2736 \| GLI2 \| 1.628 \| DISEASES 2737 \| GLI3 \| 1.989 \| DISEASES 2778 \| GNAS \| 5.571 \| DISEASES 2262 \| GPC5 \| 1.761 \| DISEASES 56261 \| GPCPD1 \| 2.166 \| DISEASES 2859 \| GPR35 \| 2.247 \| DISEASES 9555 \| H2AFY \| 2.078 \| DISEASES 3239 \| HOXD13 \| 4.633 \| DISEASES 3714 \| JAG2 \| 1.102 \| DISEASES 152789 \| JAKMIP1 \| 2.861 \| DISEASES 8242 \| KDM5C \| 1.623 \| DISEASES 7403 \| KDM6A \| 1.179 \| DISEASES 547 \| KIF1A \| 2.617 \| DISEASES 10660 \| LBX1 \| 1.092 \| DISEASES 100885779 \| LINC-ROR \| 1.956 \| DISEASES 4000 \| LMNA \| 1.793 \| DISEASES 4052 \| LTBP1 \| 1.772 \| DISEASES 6885 \| MAP3K7 \| 1.975 \| DISEASES 7867 \| MAPKAPK3 \| 2.122 \| DISEASES 4148 \| MATN3 \| 2.323 \| DISEASES 154141 \| MBOAT1 \| 3.092 \| DISEASES 4237 \| MFAP2 \| 2.152 \| DISEASES 407975 \| MIR17HG \| 1.824 \| DISEASES 26002 \| MOXD1 \| 1.61 \| DISEASES 4487 \| MSX1 \| 1.01 \| DISEASES 9241 \| NOG \| 3.514 \| DISEASES 4306 \| NR3C2 \| 1.745 \| DISEASES 9378 \| NRXN1 \| 2.764 \| DISEASES 64324 \| NSD1 \| 1.102 \| DISEASES 8481 \| OFD1 \| 2.632 \| DISEASES 89932 \| PAPLN \| 3.191 \| DISEASES 9060 \| PAPSS2 \| 2.25 \| DISEASES 5116 \| PCNT \| 1.291 \| DISEASES 5139 \| PDE3A \| 4.095 \| DISEASES 5142 \| PDE4B \| 1.45 \| DISEASES 5144 \| PDE4D \| 4.388 \| DISEASES 5238 \| PGM3 \| 1.712 \| DISEASES 84295 \| PHF6 \| 1.621 \| DISEASES 5493 \| PPL \| 1.033 \| DISEASES 5498 \| PPOX \| 1.253 \| DISEASES 5573 \| PRKAR1A \| 4.257 \| DISEASES 54496 \| PRMT7 \| 2.754 \| DISEASES 221823 \| PRPS1L1 \| 2.165 \| DISEASES 5727 \| PTCH1 \| 2.285 \| DISEASES 5745 \| PTH1R \| 2.288 \| DISEASES 5744 \| PTHLH \| 4.299 \| DISEASES 51715 \| RAB23 \| 1.864 \| DISEASES 5932 \| RBBP8 \| 1.61 \| DISEASES 83695 \| RHNO1 \| 3.074 \| DISEASES 6023 \| RMRP \| 1.57 \| DISEASES 4920 \| ROR2 \| 6.07 \| DISEASES 860 \| RUNX2 \| 2.18 \| DISEASES 26278 \| SACS \| 1.25 \| DISEASES 6338 \| SCNN1B \| 1.642 \| DISEASES 221935 \| SDK1 \| 2.608 \| DISEASES 55334 \| SLC39A9 \| 2.79 \| DISEASES 6547 \| SLC8A3 \| 1.973 \| DISEASES 4089 \| SMAD4 \| 2.402 \| DISEASES 64093 \| SMOC1 \| 2.437 \| DISEASES 6622 \| SNCA \| 1.287 \| DISEASES 23161 \| SNX13 \| 3.205 \| DISEASES 6430 \| SRSF5 \| 2.061 \| DISEASES 8428 \| STK24 \| 1.271 \| DISEASES 10494 \| STK25 \| 3.063 \| DISEASES 8675 \| STX16 \| 2.911 \| DISEASES 23345 \| SYNE1 \| 1.315 \| DISEASES 23224 \| SYNE2 \| 1.411 \| DISEASES 79718 \| TBL1XR1 \| 1.666 \| DISEASES 7227 \| TRPS1 \| 4.486 \| DISEASES 117581 \| TWIST2 \| 2.379 \| DISEASES 57216 \| VANGL2 \| 2.478 \| DISEASES 7503 \| XIST \| 1.341 \| DISEASES 55249 \| YY1AP1 \| 3.03 \| DISEASES 7546 \| ZIC2 \| 1.561 \| DISEASES
Locus	(Waiting for update.)

Disease ID	716
Disease	brachydactyly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0004322 \| Stature below 3rd percentile \| 2 HP:0001798 \| Anonychia \| 2 HP:0000822 \| Hypertension \| 2 HP:0001217 \| Digital clubbing \| 1 HP:0010579 \| Cone-shaped epiphyses \| 1 HP:0009536 \| Hypoplastic index finger phalanges \| 1 HP:0003042 \| Radiocapitellar dislocation \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0005792 \| Short upper arms \| 1 HP:0030084 \| Clinodactyly \| 1 HP:0010442 \| Polydactyly \| 1 HP:0040019 \| Finger clinodactyly \| 1 HP:0001773 \| Small feet \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0000717 \| Autism \| 1 HP:0004209 \| Clinodactyly of fifth digit \| 1 HP:0003040 \| Arthropathy \| 1

Disease ID	716
Disease	brachydactyly
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1963138 \| hypertension C1962986 \| glaucoma C0796110 \| w syndrome C0037772 \| spastic paraplegia C0010823 \| cmv infection
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0020538 \| hypertension \| 2

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
rs199566527	22529972	9241	NOG	umls:C0221357	BeFree	We conclude that p.G92E represents a rare polymorphism of the NOGGIN gene-- causing neither brachydactyly nor fibrodysplasia ossificans progressiva.	0.000271442	2012	NOG	17	56594498	G	A
rs267607016	19640924	4920	ROR2	umls:C0221357	BeFree	We here report a novel nonsense mutation in ROR2 (c.1324C>T; p.R441X) causing intracellular protein truncation in a patient exhibiting features of RRS in conjunction with severe recessive brachydactyly.	0.001628651	2009	ROR2	9	91726603	G	A

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	716
Disease	brachydactyly
Case	(Waiting for update.)

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