Class information for:
Level 2: ACHONDROPLASIA//SKELETAL DYSPLASIA//HYPOCHONDROPLASIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
2658 3456 27.2 67%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
14 4 ORTHOPEDICS//DENTISTRY, ORAL SURGERY & MEDICINE//SPORT SCIENCES 808941
474 3       CLEFT PALATE-CRANIOFACIAL JOURNAL//CLEFT PALATE//CRANIOSYNOSTOSIS 23888
2658 2             ACHONDROPLASIA//SKELETAL DYSPLASIA//HYPOCHONDROPLASIA 3456
9853 1                   ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA 1114
10915 1                   STICKLER SYNDROME//COL2A1//PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA 1025
17609 1                   FILAMIN A//FILAMIN//FLNA 590
27105 1                   LARSEN SYNDROME//CONGENITAL DISLOCATION OF THE KNEE//DESBUQUOIS DYSPLASIA 237
31443 1                   MAB 21//OMODYSPLASIA//MAB21L1 153
33110 1                   MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA 129
33881 1                   TRAPP//SEDLIN//SEDL 119
35936 1                   DYGGVE MELCHIOR CLAUSEN SYNDROME//DYMECLIN//AXIAL OSTEOMALACIA 89

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 ACHONDROPLASIA authKW 1646915 7% 72% 258
2 SKELETAL DYSPLASIA authKW 716399 6% 40% 201
3 HYPOCHONDROPLASIA authKW 499347 2% 91% 62
4 THANATOPHORIC DYSPLASIA authKW 482413 2% 85% 64
5 STICKLER SYNDROME authKW 477733 2% 81% 67
6 COL2A1 authKW 428300 2% 65% 75
7 LARSEN SYNDROME authKW 317998 1% 86% 42
8 CHONDRODYSPLASIA authKW 267044 2% 40% 76
9 OSTEOCHONDRODYSPLASIA authKW 235737 2% 43% 62
10 FILAMIN A authKW 216374 1% 50% 49

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with term
in class
1 Genetics & Heredity 19793 32% 0% 1102
2 Pediatrics 5783 15% 0% 512
3 Orthopedics 3039 9% 0% 294
4 Radiology, Nuclear Medicine & Medical Imaging 1163 8% 0% 286
5 Ophthalmology 666 4% 0% 151
6 Cell Biology 585 9% 0% 299
7 Rheumatology 542 3% 0% 89
8 Obstetrics & Gynecology 482 4% 0% 151
9 Medical Ethics 471 1% 0% 26
10 Developmental Biology 393 3% 0% 87

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 ALAN KATHRYN GREENBERG SKELETAL DYSPLASIAS 26501 0% 100% 3
2 AHMANSON PEDIAT 26228 1% 17% 18
3 STEVEN SPIELBERG PEDIAT 23840 1% 14% 20
4 TRANSLAT MED MED 22603 0% 32% 8
5 VITREORETINAL SERV 20128 1% 10% 22
6 BIOMED MOL CARDIOVASC 19874 0% 75% 3
7 VITREORETINAL GRP 19874 0% 75% 3
8 PEDIAT IMAGING 18602 1% 10% 21
9 MED DENT CELL BIOL 17667 0% 100% 2
10 MED GENET PEDIAT RADIOL 17667 0% 100% 2

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 AMERICAN JOURNAL OF MEDICAL GENETICS 68622 8% 3% 261
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 48373 5% 3% 178
3 CLINICAL DYSMORPHOLOGY 24761 2% 5% 56
4 PEDIATRIC RADIOLOGY 14400 3% 2% 105
5 JOURNAL OF MEDICAL GENETICS 11170 2% 1% 86
6 GENETIC COUNSELING 5819 1% 3% 25
7 CLINICAL GENETICS 5354 2% 1% 56
8 JOURNAL OF PEDIATRIC ORTHOPAEDICS 4792 2% 1% 53
9 PATHOLOGY AND IMMUNOPATHOLOGY RESEARCH 3123 0% 5% 7
10 PRENATAL DIAGNOSIS 2986 1% 1% 44

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 ACHONDROPLASIA 1646915 7% 72% 258 Search ACHONDROPLASIA Search ACHONDROPLASIA
2 SKELETAL DYSPLASIA 716399 6% 40% 201 Search SKELETAL+DYSPLASIA Search SKELETAL+DYSPLASIA
3 HYPOCHONDROPLASIA 499347 2% 91% 62 Search HYPOCHONDROPLASIA Search HYPOCHONDROPLASIA
4 THANATOPHORIC DYSPLASIA 482413 2% 85% 64 Search THANATOPHORIC+DYSPLASIA Search THANATOPHORIC+DYSPLASIA
5 STICKLER SYNDROME 477733 2% 81% 67 Search STICKLER+SYNDROME Search STICKLER+SYNDROME
6 COL2A1 428300 2% 65% 75 Search COL2A1 Search COL2A1
7 LARSEN SYNDROME 317998 1% 86% 42 Search LARSEN+SYNDROME Search LARSEN+SYNDROME
8 CHONDRODYSPLASIA 267044 2% 40% 76 Search CHONDRODYSPLASIA Search CHONDRODYSPLASIA
9 OSTEOCHONDRODYSPLASIA 235737 2% 43% 62 Search OSTEOCHONDRODYSPLASIA Search OSTEOCHONDRODYSPLASIA
10 FILAMIN A 216374 1% 50% 49 Search FILAMIN+A Search FILAMIN+A

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref. in
cl.		 Shr. of ref. in
cl.		 Citations
1 BARAT-HOUARI, M , SARRABAY, G , GATINOIS, V , FABRE, A , DUMONT, B , GENEVIEVE, D , TOUITOU, I , (2016) MUTATION UPDATE FOR COL2A1 GENE VARIANTS ASSOCIATED WITH TYPE II COLLAGENOPATHIES.HUMAN MUTATION. VOL. 37. ISSUE 1. P. 7 -15 103 90% 4
2 DENG, H , HUANG, XJ , YUAN, LM , (2016) MOLECULAR GENETICS OF THE COL2A1-RELATED DISORDERS.MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH. VOL. 768. ISSUE . P. 1 -13 127 86% 0
3 HORTON, WA , HALL, JG , HECHT, JT , (2007) ACHONDROPLASIA.LANCET. VOL. 370. ISSUE 9582. P. 162-172 100 70% 128
4 RAZINIA, Z , MAKELA, T , YLANNE, J , CALDERWOOD, DA , (2012) FILAMINS IN MECHANOSENSING AND SIGNALING.ANNUAL REVIEW OF BIOPHYSICS, VOL 41. VOL. 41. ISSUE . P. 227-246 82 61% 56
5 NAKAMURA, F , STOSSEL, TP , HARTWIG, JH , (2011) THE FILAMINS ORGANIZERS OF CELL STRUCTURE AND FUNCTION.CELL ADHESION & MIGRATION. VOL. 5. ISSUE 2. P. 160 -169 70 61% 141
6 ZHOU, AX , HARTWIG, JH , AKYUREK, LM , (2010) FILAMINS IN CELL SIGNALING, TRANSCRIPTION AND ORGAN DEVELOPMENT.TRENDS IN CELL BIOLOGY. VOL. 20. ISSUE 2. P. 113-123 57 71% 116
7 SAVOY, RM , GHOSH, PM , (2013) THE DUAL ROLE OF FILAMIN A IN CANCER: CAN'T LIVE WITH (TOO MUCH OF) IT, CAN'T LIVE WITHOUT IT.ENDOCRINE-RELATED CANCER. VOL. 20. ISSUE 6. P. R341 -R356 71 62% 20
8 ACKE, FRE , DHOOGE, IJM , MALFAIT, F , DE LEENHEER, EMR , (2012) HEARING IMPAIRMENT IN STICKLER SYNDROME: A SYSTEMATIC REVIEW.ORPHANET JOURNAL OF RARE DISEASES. VOL. 7. ISSUE . P. - 57 83% 9
9 FOLDYNOVA-TRANTIRKOVA, S , WILCOX, WR , KREJCI, P , (2012) SIXTEEN YEARS AND COUNTING: THE CURRENT UNDERSTANDING OF FIBROBLAST GROWTH FACTOR RECEPTOR 3 (FGFR3) SIGNALING IN SKELETAL DYSPLASIAS.HUMAN MUTATION. VOL. 33. ISSUE 1. P. 29 -41 75 51% 51
10 YUE, JY , HUHN, S , SHEN, ZY , (2013) COMPLEX ROLES OF FILAMIN-A MEDIATED CYTOSKELETON NETWORK IN CANCER PROGRESSION.CELL AND BIOSCIENCE. VOL. 3. ISSUE . P. - 73 57% 13

Classes with closest relation at Level 2


Rank Class id link
1 2498 CRANIOSYNOSTOSIS//PLAGIOCEPHALY//APERT SYNDROME
2 797 OSTEOGENESIS IMPERFECTA//EHLERS DANLOS SYNDROME//COLLAGEN
3 1927 FGF21//FIBROBLAST GROWTH FACTOR//FIBROBLAST GROWTH FACTOR 21
4 3791 LIPOID PROTEINOSIS//JUVENILE HYALINE FIBROMATOSIS//HAJDU CHENEY SYNDROME
5 3549 ARTHROGRYPOSIS//FREEMAN SHELDON SYNDROME//DISTAL ARTHROGRYPOSIS
6 4078 KABUKI SYNDROME//SCHIMKE IMMUNO OSSEOUS DYSPLASIA//KABUKI MAKE UP SYNDROME
7 72 OSTEOARTHRITIS//OSTEOARTHRITIS AND CARTILAGE//CHONDROCYTE
8 3382 LISSENCEPHALY//SECKEL SYNDROME//LIS1
9 1658 HEDGEHOG//GLI//CILIOPATHY
10 3948 SPROUTY//LRIG1//MIG 6

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