eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	polydactyly

Disease ID	925
Disease	polydactyly
Definition	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
Synonym	accessory digit hyperdactylies hyperdactyly polydactylia polydactylias polydactylies polydactylism polydactylisms polydactyly (disorder) polydactyly (disorder) [ambiguous] polydactyly [disease/finding] polydactyly nos polydactyly nos (disorder) polydactyly, nos polydactyly, unspecified digits supernumerary digit supernumerary digits supernumerary digits, unspecified supernumerary digits, unspecified (disorder)
Orphanet	ORPHANET:2913
OMIM	OMIM:603596
DOID	DOID:1148
UMLS	C0152427
MeSH	D017689
SNOMED-CT	SNOMEDCT_US_2016_09_01:367506006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0010278 \| craniosynostosis \| 2 C0042870 \| vitamin d defic \| 1 C0008924 \| cleft lip \| 1 C0152095 \| trisomy 13 \| 1 C0042870 \| vitamin d deficiency \| 1 C0015625 \| fanconi anemia \| 1 C0002871 \| anemia \| 1 C0008925 \| palatoschisis \| 1 C0431399 \| joubert syndrome \| 1 C0003466 \| imperforate anus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 5728 \| PTEN \| CTD_human 8100 \| IFT88 \| CTD_human 2737 \| GLI3 \| CTD_human 9786 \| KIAA0586 \| CTD_human 145282 \| MIPOL1 \| CTD_human 60529 \| ALX4 \| CTD_human 57560 \| IFT80 \| CTD_human 11127 \| KIF3A \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:141) 65057 \| ACD \| 1.244 \| DISEASES 174 \| AFP \| 1.085 \| DISEASES 257 \| ALX3 \| 3.398 \| DISEASES 60529 \| ALX4 \| 4.74 \| DISEASES 395 \| ARHGAP6 \| 2.064 \| DISEASES 200894 \| ARL13B \| 4.467 \| DISEASES 84100 \| ARL6 \| 2.733 \| DISEASES 50807 \| ASAP1 \| 1.643 \| DISEASES 92482 \| BBIP1 \| 2.97 \| DISEASES 79738 \| BBS10 \| 5.221 \| DISEASES 650 \| BMP2 \| 2.067 \| DISEASES 26005 \| C2CD3 \| 3.685 \| DISEASES 65250 \| C5orf42 \| 3.875 \| DISEASES 57545 \| CC2D2A \| 4.941 \| DISEASES 160857 \| CCDC122 \| 3.093 \| DISEASES 916 \| CD3E \| 1.232 \| DISEASES 1028 \| CDKN1C \| 1.008 \| DISEASES 80184 \| CEP290 \| 4.254 \| DISEASES 55165 \| CEP55 \| 1.519 \| DISEASES 9350 \| CER1 \| 1.132 \| DISEASES 26586 \| CKAP2 \| 1.184 \| DISEASES 54875 \| CNTLN \| 2.928 \| DISEASES 57511 \| COG6 \| 1.645 \| DISEASES 1298 \| COL9A2 \| 1.247 \| DISEASES 116228 \| COX20 \| 2.425 \| DISEASES 9946 \| CRYZL1 \| 1.582 \| DISEASES 348180 \| CTU2 \| 2.314 \| DISEASES 1717 \| DHCR7 \| 3.109 \| DISEASES 81624 \| DIAPH3 \| 1.43 \| DISEASES 22943 \| DKK1 \| 1.341 \| DISEASES 1741 \| DLG3 \| 2.138 \| DISEASES 1761 \| DMRT1 \| 1.317 \| DISEASES 120526 \| DNAJC24 \| 2.553 \| DISEASES 285381 \| DPH3 \| 2.611 \| DISEASES 51611 \| DPH5 \| 2.754 \| DISEASES 1804 \| DPP6 \| 1.141 \| DISEASES 79659 \| DYNC2H1 \| 5.597 \| DISEASES 10682 \| EBP \| 2.822 \| DISEASES 84455 \| EFCAB7 \| 2.991 \| DISEASES 8663 \| EIF3C \| 2.357 \| DISEASES 2018 \| EMX2 \| 2.353 \| DISEASES 2045 \| EPHA7 \| 2.162 \| DISEASES 2049 \| EPHB3 \| 1.324 \| DISEASES 2118 \| ETV4 \| 1.995 \| DISEASES 132884 \| EVC2 \| 5.274 \| DISEASES 23265 \| EXOC7 \| 1.872 \| DISEASES 26269 \| FBXO8 \| 1.894 \| DISEASES 6468 \| FBXW4 \| 2.535 \| DISEASES 2253 \| FGF8 \| 4.617 \| DISEASES 2263 \| FGFR2 \| 1.474 \| DISEASES 2305 \| FOXM1 \| 2.126 \| DISEASES 9573 \| GDF3 \| 2.245 \| DISEASES 8200 \| GDF5 \| 2.577 \| DISEASES 2736 \| GLI2 \| 4.794 \| DISEASES 2737 \| GLI3 \| 6.524 \| DISEASES 2764 \| GMFB \| 1.18 \| DISEASES 2719 \| GPC3 \| 2.33 \| DISEASES 2239 \| GPC4 \| 1.74 \| DISEASES 2262 \| GPC5 \| 2.309 \| DISEASES 10082 \| GPC6 \| 1.757 \| DISEASES 23426 \| GRIP1 \| 1.585 \| DISEASES 9464 \| HAND2 \| 3.897 \| DISEASES 3238 \| HOXD12 \| 4.258 \| DISEASES 3239 \| HOXD13 \| 4.956 \| DISEASES 219844 \| HYLS1 \| 4.474 \| DISEASES 9742 \| IFT140 \| 2.738 \| DISEASES 11020 \| IFT27 \| 2.577 \| DISEASES 51098 \| IFT52 \| 4.529 \| DISEASES 80173 \| IFT74 \| 2.468 \| DISEASES 8100 \| IFT88 \| 2.165 \| DISEASES 3481 \| IGF2 \| 2.484 \| DISEASES 56623 \| INPP5E \| 2.869 \| DISEASES 27152 \| INTU \| 2.997 \| DISEASES 23288 \| IQCE \| 3.741 \| DISEASES 11127 \| KIF3A \| 2.224 \| DISEASES 374654 \| KIF7 \| 4.249 \| DISEASES 3801 \| KIFC3 \| 2.182 \| DISEASES 3831 \| KLC1 \| 2.186 \| DISEASES 100144748 \| KLLN \| 1.858 \| DISEASES 167691 \| LCA5 \| 1.629 \| DISEASES 64433 \| LINC00244 \| 4.162 \| DISEASES 64327 \| LMBR1 \| 6.477 \| DISEASES 10161 \| LPAR6 \| 1.656 \| DISEASES 51360 \| MBTPS2 \| 1.078 \| DISEASES 145282 \| MIPOL1 \| 5.07 \| DISEASES 54903 \| MKS1 \| 5.385 \| DISEASES 4487 \| MSX1 \| 3.576 \| DISEASES 4647 \| MYO7A \| 1.483 \| DISEASES 4649 \| MYO9A \| 2.145 \| DISEASES 8736 \| MYOM1 \| 2.191 \| DISEASES 4750 \| NEK1 \| 4.443 \| DISEASES 79840 \| NHEJ1 \| 1.613 \| DISEASES 579 \| NKX3-2 \| 2.557 \| DISEASES 9241 \| NOG \| 1.687 \| DISEASES 27031 \| NPHP3 \| 1.46 \| DISEASES 8481 \| OFD1 \| 4.393 \| DISEASES 9060 \| PAPSS2 \| 1.752 \| DISEASES 84612 \| PARD6B \| 2.455 \| DISEASES 5075 \| PAX1 \| 2.272 \| DISEASES 5083 \| PAX9 \| 1.047 \| DISEASES 128344 \| PIFO \| 2.141 \| DISEASES 5314 \| PKHD1 \| 1.336 \| DISEASES 51450 \| PRRX2 \| 2.612 \| DISEASES 5727 \| PTCH1 \| 3.679 \| DISEASES 8643 \| PTCH2 \| 1.963 \| DISEASES 169714 \| QSOX2 \| 2.904 \| DISEASES 51715 \| RAB23 \| 2.323 \| DISEASES 64901 \| RANBP17 \| 2.282 \| DISEASES 140730 \| RIMS4 \| 3.229 \| DISEASES 4920 \| ROR2 \| 1.287 \| DISEASES 23322 \| RPGRIP1L \| 2.885 \| DISEASES 10806 \| SDCCAG8 \| 3.74 \| DISEASES 4990 \| SIX6 \| 1.949 \| DISEASES 6660 \| SOX5 \| 1.231 \| DISEASES 55553 \| SOX6 \| 2.077 \| DISEASES 27286 \| SRPX2 \| 2.568 \| DISEASES 51684 \| SUFU \| 3.179 \| DISEASES 255758 \| TCTEX1D2 \| 3.089 \| DISEASES 79600 \| TCTN1 \| 2.161 \| DISEASES 51259 \| TMEM216 \| 5.31 \| DISEASES 79583 \| TMEM231 \| 4.794 \| DISEASES 91147 \| TMEM67 \| 5.502 \| DISEASES 26146 \| TRAF3IP1 \| 2.814 \| DISEASES 22954 \| TRIM32 \| 3.053 \| DISEASES 7227 \| TRPS1 \| 1.171 \| DISEASES 8848 \| TSC22D1 \| 1.507 \| DISEASES 7106 \| TSPAN4 \| 2.106 \| DISEASES 79989 \| TTC26 \| 3.279 \| DISEASES 123016 \| TTC8 \| 2.425 \| DISEASES 7289 \| TULP3 \| 2.231 \| DISEASES 92181 \| UBTD2 \| 2.97 \| DISEASES 57728 \| WDR19 \| 4.111 \| DISEASES 89891 \| WDR34 \| 4.073 \| DISEASES 55112 \| WDR60 \| 3.827 \| DISEASES 7477 \| WNT7B \| 2.199 \| DISEASES 7479 \| WNT8B \| 2.874 \| DISEASES 7704 \| ZBTB16 \| 2.055 \| DISEASES 23414 \| ZFPM2 \| 1.147 \| DISEASES 7546 \| ZIC2 \| 2.065 \| DISEASES 10771 \| ZMYND11 \| 1.88 \| DISEASES 7694 \| ZNF135 \| 1.211 \| DISEASES
Locus	(Waiting for update.)

Disease ID	925
Disease	polydactyly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0001159 \| Webbed fingers or toes \| 4 HP:0001199 \| Triphalangeal thumb \| 3 HP:0100257 \| Cleft hand \| 2 HP:0100259 \| Postaxial hexadactyly \| 2 HP:0001363 \| Early fusion of cranial sutures \| 2 HP:0002126 \| Polymicrogyria \| 2 HP:0001762 \| Talipes equinovarus \| 2 HP:0100258 \| Polydactyly, preaxial \| 2 HP:0001263 \| Developmental retardation \| 1 HP:0002119 \| Ventricular dilatation \| 1 HP:0009381 \| Hypoplastic fingers \| 1 HP:0002880 \| Respiratory difficulties \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0011304 \| Wide/broad thumb \| 1 HP:0001360 \| Single brain ventricle \| 1 HP:0100790 \| Hernia \| 1 HP:0000773 \| Rib hypoplasia \| 1 HP:0001795 \| Hyperconvex nail \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0012650 \| Perisylvian polymicrogyria \| 1 HP:0002006 \| Tessier facial cleft \| 1 HP:0001903 \| Anemia \| 1 HP:0009944 \| Notching of thumb phalanges \| 1 HP:0009778 \| Small thumbs \| 1 HP:0000659 \| Peters anomaly \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0030010 \| Hydrometrocolpos \| 1 HP:0006888 \| Meningoencephalocele \| 1 HP:0001171 \| Hand ectrodactyly \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0000148 \| Vaginal atresia \| 1 HP:0006042 \| Y-shaped metacarpals \| 1 HP:0001156 \| Brachydactyly \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0002085 \| Occipital encephalocele \| 1 HP:0008066 \| Skin bullae \| 1 HP:0006870 \| Lobar holoprosencephaly \| 1 HP:0009826 \| limb shortening \| 1 HP:0200037 \| Skin vesicle \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0030011 \| Imperforate hymen \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0006988 \| Alobar holoprosencephaly \| 1 HP:0002982 \| Bowed tibia \| 1 HP:0010442 \| Polydactyly \| 1 HP:0012531 \| Pain \| 1

Disease ID	925
Disease	polydactyly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912765	18252212	652	BMP4	umls:C0152427	BeFree	Using a positional candidate gene approach, we analyzed the BMP4 (Bone Morphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydactyly in a family and a nonconservative missense mutation (c.278A-->G, p.E93G) in a highly conserved base in another family.	0.000542884	2008	BMP4	14	53951945	T	C

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	925
Disease	polydactyly
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter