Class information for:
Level 1: STICKLER SYNDROME//COL2A1//SPONDYLOEPIMETAPHYSEAL DYSPLASIA

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
9990 1037 23.0 64%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
2438 3629 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 STICKLER SYNDROME Author keyword 95 78% 6% 63
2 COL2A1 Author keyword 69 65% 6% 66
3 SPONDYLOEPIMETAPHYSEAL DYSPLASIA Author keyword 44 88% 2% 21
4 PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA Author keyword 41 100% 1% 15
5 PLATYSPONDYLY Author keyword 26 64% 2% 25
6 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Author keyword 21 75% 1% 15
7 MARSHALL SYNDROME Author keyword 20 100% 1% 9
8 SPONDYLOMETAPHYSEAL DYSPLASIA Author keyword 19 71% 1% 15
9 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA Author keyword 15 73% 1% 11
10 SPONDYLOEPIPHYSEAL DYSPLASIA Author keyword 14 42% 3% 26

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 STICKLER SYNDROME 95 78% 6% 63 Search STICKLER+SYNDROME Search STICKLER+SYNDROME
2 COL2A1 69 65% 6% 66 Search COL2A1 Search COL2A1
3 SPONDYLOEPIMETAPHYSEAL DYSPLASIA 44 88% 2% 21 Search SPONDYLOEPIMETAPHYSEAL+DYSPLASIA Search SPONDYLOEPIMETAPHYSEAL+DYSPLASIA
4 PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA 41 100% 1% 15 Search PROGRESSIVE+PSEUDORHEUMATOID+DYSPLASIA Search PROGRESSIVE+PSEUDORHEUMATOID+DYSPLASIA
5 PLATYSPONDYLY 26 64% 2% 25 Search PLATYSPONDYLY Search PLATYSPONDYLY
6 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 21 75% 1% 15 Search SPONDYLOEPIPHYSEAL+DYSPLASIA+CONGENITA Search SPONDYLOEPIPHYSEAL+DYSPLASIA+CONGENITA
7 MARSHALL SYNDROME 20 100% 1% 9 Search MARSHALL+SYNDROME Search MARSHALL+SYNDROME
8 SPONDYLOMETAPHYSEAL DYSPLASIA 19 71% 1% 15 Search SPONDYLOMETAPHYSEAL+DYSPLASIA Search SPONDYLOMETAPHYSEAL+DYSPLASIA
9 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 15 73% 1% 11 Search SPONDYLOEPIPHYSEAL+DYSPLASIA+TARDA Search SPONDYLOEPIPHYSEAL+DYSPLASIA+TARDA
10 SPONDYLOEPIPHYSEAL DYSPLASIA 14 42% 3% 26 Search SPONDYLOEPIPHYSEAL+DYSPLASIA Search SPONDYLOEPIPHYSEAL+DYSPLASIA

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 SYNDROME ARTHROOPHTHALMOPATHY 73 96% 2% 23
2 SPONDYLOEPIPHYSEAL DYSPLASIA 63 49% 9% 94
3 MILD CHONDRODYSPLASIA 57 63% 5% 57
4 COL2A1 51 51% 7% 72
5 STICKLER SYNDROME 45 46% 7% 73
6 PRECOCIOUS OSTEOARTHRITIS 44 81% 3% 26
7 STRUDWICK TYPE 38 93% 1% 14
8 GENE COL2A1 36 79% 2% 23
9 SERINE SUBSTITUTION 36 83% 2% 20
10 STICKLER SYNDROME ARTHROOPHTHALMOPATHY 31 71% 2% 25

Journals

Reviews


Title Publ. year Cit. Active
references		 % act. ref.
to same field
Clinical and molecular genetics of Stickler syndrome 1999 154 40 90%
THE TYPE-II COLLAGENOPATHIES - A SPECTRUM OF CHONDRODYSPLASIAS 1994 150 49 84%
Clinical phenotypes associated with type II collagen mutations 2012 13 27 74%
Clinical variability of Stickler syndrome: Role of exon 2 of the collagen COL2A1 gene 2003 26 41 88%
Genetic and orthopedic aspects of collagen disorders 2009 19 56 64%
Hearing impairment in Stickler syndrome: a systematic review 2012 5 69 83%
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist 2011 14 42 86%
Recent advances in Dyggve-Melchior-Clausen syndrome 2004 19 14 86%
Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review 2013 1 16 81%
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis 2013 1 9 78%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 VITREORETINAL SERV 3 12% 2.1% 22
2 PENDIK HOSP 1 50% 0.2% 2
3 VITREORETINAL GRP 1 100% 0.2% 2
4 AHMANSON PEDIAT 1 10% 1.1% 11
5 OTOLARYNGOL HEAD NECK SURG COMMUN SCI 1 33% 0.2% 2
6 ANTROPOL HUMAN GENET 1 50% 0.1% 1
7 ASSOCIE INSERM UMR S 910 1 50% 0.1% 1
8 CHILDRENS HOSP MINNESOTA 1 50% 0.1% 1
9 DIPARTIMENTO SALUTE DONNA 1 50% 0.1% 1
10 HUMAN GENET CLIN SCI HLTH SCI 1 50% 0.1% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000200196 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
2 0.0000130442 COLLAGEN XVI//TYPE XI COLLAGEN//COLLAGEN XII
3 0.0000098697 CARTILAGE OLIGOMERIC MATRIX PROTEIN//MULTIPLE EPIPHYSEAL DYSPLASIA//PSEUDOACHONDROPLASIA
4 0.0000083690 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SCHIMKE IMMUNOOSSEOUS DYSPLASIA
5 0.0000081201 HAND OSTEOARTHRITIS//HAND OA//EROSIVE OSTEOARTHRITIS
6 0.0000078815 OSTEOGENESIS IMPERFECTA//BONE EXTRACELLULAR MATRIX BRANCH//BRUCK SYNDROME
7 0.0000072845 LARSEN SYNDROME//DESBUQUOIS DYSPLASIA//CONGENITAL DISLOCATION OF THE KNEE
8 0.0000069333 GROWTH PLATE//TYPE X COLLAGEN//COLLAGEN X
9 0.0000060931 LARP6//ALPHA 2I COLLAGEN//DERIVATIVE OF ERYTHROMYCIN
10 0.0000059715 LERI WEILL DYSCHONDROSTEOSIS//SHOX//MADELUNGS DEFORMITY