Class information for:
Level 1: ELLIS VAN CREVELD SYNDROME//SHORT RIB POLYDACTYLY SYNDROME//JEUNE SYNDROME

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
14855 676 18.4 54%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
1566 6734 AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE//POLYCYSTIC KIDNEY DISEASE//ADPKD

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 ELLIS VAN CREVELD SYNDROME Author keyword 150 96% 7% 47
2 SHORT RIB POLYDACTYLY SYNDROME Author keyword 41 87% 3% 20
3 JEUNE SYNDROME Author keyword 40 70% 5% 33
4 CHONDROECTODERMAL DYSPLASIA Author keyword 38 93% 2% 14
5 ORAL FACIAL DIGITAL SYNDROME Author keyword 29 73% 3% 22
6 MOHR SYNDROME Author keyword 26 87% 2% 13
7 ASPHYXIATING THORACIC DYSTROPHY Author keyword 19 70% 2% 16
8 MECKEL GRUBER SYNDROME Author keyword 18 58% 3% 21
9 ASPHYXIATING THORACIC DYSPLASIA Author keyword 17 100% 1% 8
10 EVC2 Author keyword 12 75% 1% 9

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 ELLIS VAN CREVELD SYNDROME 150 96% 7% 47 Search ELLIS+VAN+CREVELD+SYNDROME Search ELLIS+VAN+CREVELD+SYNDROME
2 SHORT RIB POLYDACTYLY SYNDROME 41 87% 3% 20 Search SHORT+RIB+POLYDACTYLY+SYNDROME Search SHORT+RIB+POLYDACTYLY+SYNDROME
3 JEUNE SYNDROME 40 70% 5% 33 Search JEUNE+SYNDROME Search JEUNE+SYNDROME
4 CHONDROECTODERMAL DYSPLASIA 38 93% 2% 14 Search CHONDROECTODERMAL+DYSPLASIA Search CHONDROECTODERMAL+DYSPLASIA
5 ORAL FACIAL DIGITAL SYNDROME 29 73% 3% 22 Search ORAL+FACIAL+DIGITAL+SYNDROME Search ORAL+FACIAL+DIGITAL+SYNDROME
6 MOHR SYNDROME 26 87% 2% 13 Search MOHR+SYNDROME Search MOHR+SYNDROME
7 ASPHYXIATING THORACIC DYSTROPHY 19 70% 2% 16 Search ASPHYXIATING+THORACIC+DYSTROPHY Search ASPHYXIATING+THORACIC+DYSTROPHY
8 MECKEL GRUBER SYNDROME 18 58% 3% 21 Search MECKEL+GRUBER+SYNDROME Search MECKEL+GRUBER+SYNDROME
9 ASPHYXIATING THORACIC DYSPLASIA 17 100% 1% 8 Search ASPHYXIATING+THORACIC+DYSPLASIA Search ASPHYXIATING+THORACIC+DYSPLASIA
10 EVC2 12 75% 1% 9 Search EVC2 Search EVC2

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 OROFACIODIGITAL SYNDROME 49 82% 4% 28
2 MOHR SYNDROME 41 100% 2% 15
3 CHONDROECTODERMAL DYSPLASIA 38 93% 2% 14
4 VANCREVELD SYNDROME 31 92% 2% 12
5 MOHR 26 87% 2% 13
6 FACIAL DIGITAL SYNDROME 22 52% 4% 30
7 MAJEWSKI 17 100% 1% 8
8 CYSTIC DYSPLASTIC KIDNEYS 13 71% 1% 10
9 MAJEWSKI SYNDROMES 12 86% 1% 6
10 JEUNE SYNDROME 12 59% 2% 13

Journals

Reviews


Title Publ. year Cit. Active
references		 % act. ref.
to same field
Ellis-van Creveld syndrome 2007 43 16 94%
The Extraordinary Career of Professor Dr. Simon van Creveld 2014 1 6 100%
Meckel-Gruber syndrome - Pathologic manifestations, minimal diagnostic criteria, and differential diagnosis 2006 37 22 59%
Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia 1999 32 63 68%
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature 2012 1 7 71%
Ellis-Van Creveld Syndrome. Case report and literature review 2009 5 11 91%
Recurrent short rib polydactyly syndrome 2013 1 8 75%
Are the Oral-Facial-Digital Syndromes Ciliopathies? 2009 12 51 49%
X-inactivation and human disease: X-linked dominant male-lethal disorders 2006 34 35 31%
GOLDSTON SYNDROME IN A FETUS: CASE REPORT AND LITERATURE REVIEW 2010 0 6 100%

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 UNITE CYTOGENET GENET MED 3 60% 0.4% 3
2 UNITE EMBRYOFOETOPATHOL 1 100% 0.3% 2
3 OBSTET GYNECOL ISTANBUL 1 50% 0.1% 1
4 OBSTET PRENATAL DIAG H596 1 50% 0.1% 1
5 OFICINA GEN INVEST TRANSFERENCIA TECNOL 1 50% 0.1% 1
6 PEDIAT DENT ORTHODONT SERV 1 50% 0.1% 1
7 POST PROGRAM PATHOL CLIN GENET CYTOGENET 1 50% 0.1% 1
8 PUBL GLOBAL HLTH PRIMARY HLTH CARE 1 50% 0.1% 1
9 RADIOL SCI PEDIAT 1 50% 0.1% 1
10 SEZ OBSTET GINECOL 1 50% 0.1% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000199999 WEISMANN NETTER STUHL SYNDROME//GLOMERULOCYSTIC KIDNEY//GLOMERULOCYSTIC KIDNEY DISEASE
2 0.0000169168 JOUBERT SYNDROME//BARDET BIEDL SYNDROME//INTRAFLAGELLAR TRANSPORT
3 0.0000147834 HYPOTHALAMIC HAMARTOMA//GELASTIC SEIZURES//GELASTIC SEIZURE
4 0.0000132400 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
5 0.0000064522 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
6 0.0000054522 FRONTONASAL DYSPLASIA//PROBOSCIS LATERALIS//CRANIOFRONTONASAL DYSPLASIA
7 0.0000054295 AICARDI SYNDROME//GOLTZ SYNDROME//FOCAL DERMAL HYPOPLASIA
8 0.0000051860 HOLOPROSENCEPHALY//OTOCEPHALY//HPE
9 0.0000046523 UROMODULIN//TAMM HORSFALL PROTEIN//FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY
10 0.0000043817 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER