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encyclopedia of Rare Disease Annotation for Precision Medicine



   multiple synostoses syndrome
  

Disease ID 886
Disease multiple synostoses syndrome
Definition
A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. [url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1, url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237] - NORD
Reference: NORD
Synonym
multiple synostosis syndrome
multiple synostosis syndrome (disorder)
symphalangism syndrome
Orphanet
DOID
UMLS
C0175700
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
9241  |  NOG  |  ORPHANET
8200  |  GDF5  |  ORPHANET
2254  |  FGF9  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:6)
93  |  ACVR2B  |  3.06  |  DISEASES
659  |  BMPR2  |  2.458  |  DISEASES
2254  |  FGF9  |  4.604  |  DISEASES
8200  |  GDF5  |  5.04  |  DISEASES
9241  |  NOG  |  5.959  |  DISEASES
55553  |  SOX6  |  3.221  |  DISEASES
Locus
Symbol | Locus(Total Locus:3)
FGF9  |  13q12.11
GDF5  |  20q11.22
NOG  |  17q22
Disease ID 886
Disease multiple synostoses syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
Disease ID 886
Disease multiple synostoses syndrome
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:0)
(Waiting for update.)
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 886
Disease multiple synostoses syndrome
Case(Waiting for update.)