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PedAM

Pediatric Disease Annotations & Medicines



   ankylosis
  

Disease ID 1501
Disease ankylosis
Definition
Fixation and immobility of a joint.
Synonym
ankyloses
ankylosis (morphologic abnormality)
ankylosis [disease/finding]
ankylosis of joint
ankylosis of joint (disorder)
ankylosis of joint nos
ankylosis of joint nos (disorder)
ankylosis of joint, site unspecified
ankylosis, nos
ankylosis-unspec
frozen joint
frozen joints
fusion of joint
fusion of joint, nos
joint ankylosis
joint ankylosis of unspecified site
joint ankylosis of unspecified site (disorder)
joint fusion
DOID
UMLS
C0003090
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:21)
C0038013  |  ankylosing spondylitis  |  5
C0022821  |  kyphosis  |  2
C0011407  |  pulp necrosis  |  1
C0242490  |  enthesopathy  |  1
C0206706  |  verrucous carcinoma  |  1
C0041952  |  ureteral stone  |  1
C0026846  |  muscle atrophy  |  1
C0039538  |  teratoma  |  1
C0553662  |  juvenile idiopathic arthritis  |  1
C0520679  |  obstructive sleep apnoea  |  1
C0006325  |  bruxism  |  1
C0021355  |  otitis externa  |  1
C0035435  |  rheumatic disease  |  1
C0949690  |  spondyloarthritis  |  1
C0162359  |  hypohidrotic ectodermal dysplasia  |  1
C0263859  |  sapho syndrome  |  1
C0037315  |  sleep apnoea  |  1
C0038012  |  spondylitis  |  1
C0003864  |  arthritis  |  1
C0013575  |  ectodermal dysplasia  |  1
C0003874  |  septic arthritis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
FGFR2  |  2263  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:140)
50865  |  HEBP1  |  DISEASES
90956  |  ADCK2  |  DISEASES
6583  |  SLC22A4  |  DISEASES
368  |  ABCC6  |  DISEASES
8086  |  AAAS  |  DISEASES
3560  |  IL2RB  |  DISEASES
10084  |  PQBP1  |  DISEASES
54  |  ACP5  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
1158  |  CKM  |  DISEASES
1749  |  DLX5  |  DISEASES
3381  |  IBSP  |  DISEASES
6678  |  SPARC  |  DISEASES
3280  |  HES1  |  DISEASES
1746  |  DLX2  |  DISEASES
8317  |  CDC7  |  DISEASES
4488  |  MSX2  |  DISEASES
8600  |  TNFSF11  |  DISEASES
1300  |  COL10A1  |  DISEASES
652  |  BMP4  |  DISEASES
6662  |  SOX9  |  DISEASES
7538  |  ZFP36  |  DISEASES
78992  |  YIPF2  |  DISEASES
9026  |  HIP1R  |  DISEASES
1401  |  CRP  |  DISEASES
3569  |  IL6  |  DISEASES
25833  |  POU2F3  |  DISEASES
4322  |  MMP13  |  DISEASES
4040  |  LRP6  |  DISEASES
4141  |  MARS  |  DISEASES
6521  |  SLC4A1  |  DISEASES
55717  |  WDR11  |  DISEASES
90  |  ACVR1  |  DISEASES
79594  |  MUL1  |  DISEASES
2247  |  FGF2  |  DISEASES
7474  |  WNT5A  |  DISEASES
80725  |  SRCIN1  |  DISEASES
80321  |  CEP70  |  DISEASES
51176  |  LEF1  |  DISEASES
10058  |  ABCB6  |  DISEASES
6595  |  SMARCA2  |  DISEASES
347902  |  AMIGO2  |  DISEASES
151449  |  GDF7  |  DISEASES
1404  |  HAPLN1  |  DISEASES
79017  |  GGCT  |  DISEASES
6872  |  TAF1  |  DISEASES
23196  |  FAM120A  |  DISEASES
4851  |  NOTCH1  |  DISEASES
92935  |  MARS2  |  DISEASES
1834  |  DSPP  |  DISEASES
55079  |  FEZF2  |  DISEASES
56172  |  ANKH  |  DISEASES
5130  |  PCYT1A  |  DISEASES
7471  |  WNT1  |  DISEASES
3549  |  IHH  |  DISEASES
10085  |  EDIL3  |  DISEASES
51752  |  ERAP1  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
79841  |  AGBL2  |  DISEASES
50964  |  SOST  |  DISEASES
84168  |  ANTXR1  |  DISEASES
121340  |  SP7  |  DISEASES
118429  |  ANTXR2  |  DISEASES
56246  |  MRAP  |  DISEASES
11280  |  SCN11A  |  DISEASES
6199  |  RPS6KB2  |  DISEASES
5897  |  RAG2  |  DISEASES
407  |  ARR3  |  DISEASES
149233  |  IL23R  |  DISEASES
6569  |  SLC34A1  |  DISEASES
3996  |  LLGL1  |  DISEASES
5745  |  PTH1R  |  DISEASES
5494  |  PPM1A  |  DISEASES
9241  |  NOG  |  DISEASES
4990  |  SIX6  |  DISEASES
8905  |  AP1S2  |  DISEASES
55742  |  PARVA  |  DISEASES
5332  |  PLCB4  |  DISEASES
153201  |  SLC36A2  |  DISEASES
5025  |  P2RX4  |  DISEASES
54468  |  MIOS  |  DISEASES
6575  |  SLC20A2  |  DISEASES
92399  |  MRRF  |  DISEASES
3605  |  IL17A  |  DISEASES
1499  |  CTNNB1  |  DISEASES
6597  |  SMARCA4  |  DISEASES
5167  |  ENPP1  |  DISEASES
56955  |  MEPE  |  DISEASES
6993  |  DYNLT1  |  DISEASES
5321  |  PLA2G4A  |  DISEASES
6708  |  SPTA1  |  DISEASES
632  |  BGLAP  |  DISEASES
7286  |  TUFT1  |  DISEASES
7482  |  WNT2B  |  DISEASES
2773  |  GNAI3  |  DISEASES
1810  |  DR1  |  DISEASES
80135  |  RPF1  |  DISEASES
860  |  RUNX2  |  DISEASES
10269  |  ZMPSTE24  |  DISEASES
5464  |  PPA1  |  DISEASES
4146  |  MATN1  |  DISEASES
22943  |  DKK1  |  DISEASES
8200  |  GDF5  |  DISEASES
249  |  ALPL  |  DISEASES
54829  |  ASPN  |  DISEASES
4920  |  ROR2  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
26149  |  ZNF658  |  DISEASES
27237  |  ARHGEF16  |  DISEASES
54880  |  BCOR  |  DISEASES
650  |  BMP2  |  DISEASES
79689  |  STEAP4  |  DISEASES
1280  |  COL2A1  |  DISEASES
6473  |  SHOX  |  DISEASES
192668  |  CYS1  |  DISEASES
752014  |  CEMP1  |  DISEASES
2254  |  FGF9  |  DISEASES
11202  |  KLK8  |  DISEASES
6696  |  SPP1  |  DISEASES
655  |  BMP7  |  DISEASES
5744  |  PTHLH  |  DISEASES
4626  |  MYH8  |  DISEASES
57703  |  CWC22  |  DISEASES
176  |  ACAN  |  DISEASES
6916  |  TBXAS1  |  DISEASES
2260  |  FGFR1  |  DISEASES
7124  |  TNF  |  DISEASES
6474  |  SHOX2  |  DISEASES
196527  |  ANO6  |  DISEASES
2263  |  FGFR2  |  DISEASES
389549  |  FEZF1  |  DISEASES
10046  |  MAMLD1  |  DISEASES
3712  |  IVD  |  DISEASES
5478  |  PPIA  |  DISEASES
4043  |  LRPAP1  |  DISEASES
1750  |  DLX6  |  DISEASES
51399  |  TRAPPC4  |  DISEASES
83695  |  RHNO1  |  DISEASES
9051  |  PSTPIP1  |  DISEASES
8792  |  TNFRSF11A  |  DISEASES
Locus(Waiting for update.)
Disease ID 1501
Disease ankylosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:36)
HP:0011304  |  Wide/broad thumb  |  4
HP:0010807  |  Open bite between upper and lower teeth  |  3
HP:0012531  |  Pain  |  3
HP:0000347  |  Hypoplasia of mandible  |  2
HP:0009118  |  Hypoplasia of lower jaw  |  2
HP:0000324  |  Asymmetry of face  |  2
HP:0012478  |  Temporomandibular joint ankylosis  |  2
HP:0002808  |  Gibbus deformity  |  2
HP:0000405  |  Conductive hearing loss  |  2
HP:0009792  |  Teratoma  |  1
HP:0000968  |  Ectodermal dysplasia  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0001662  |  Bradycardia  |  1
HP:0007607  |  Hypohidrotic ectodermal dysplasia  |  1
HP:0001386  |  Joint swelling  |  1
HP:0002104  |  Absence of spontaneous respiration  |  1
HP:0007529  |  Hidrotic ectodermal dysplasia  |  1
HP:0003307  |  Hyperlordosis  |  1
HP:0030731  |  Carcinoma  |  1
HP:0100686  |  Enthesitis  |  1
HP:0003763  |  Bruxism  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0000211  |  Trismus  |  1
HP:0002063  |  Muscle rigidity  |  1
HP:0011986  |  Ectopic bone formation  |  1
HP:0000278  |  Receding lower jaw  |  1
HP:0001369  |  Arthritis  |  1
HP:0010535  |  Sleep apnea  |  1
HP:0000752  |  Hyperactive behavior  |  1
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  1
HP:0200095  |  Anterior open bite  |  1
HP:0005681  |  Juvenile idiopathic arthritis  |  1
HP:0003095  |  Septic arthritis  |  1
HP:0000171  |  Hypoglossia  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0012399  |  Bedsore  |  1
Disease ID 1501
Disease ankylosis
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining 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
rs1219084071936945556172ANKHumls:C0003090BeFreeWe showed that ANKH protein associates with the sodium/phosphate cotransporter PiT-1, and that ANKH M48T mutant protein failed to interact with PiT-1.0.0016286512009ANKH514769145AG
rs28937580184408899241NOGumls:C0003090BeFreeP35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.0.0078916772008NOG1756594326CG,T
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)