Class information for:
Level 1: SMITH LEMLI OPITZ SYNDROME//CHONDRODYSPLASIA PUNCTATA//7 DEHYDROCHOLESTEROL

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
10632 980 33.1 73%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
3008 2083 SMITH LEMLI OPITZ SYNDROME//INCONTINENTIA PIGMENTI//CHONDRODYSPLASIA PUNCTATA

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 SMITH LEMLI OPITZ SYNDROME Author keyword 337 84% 19% 182
2 CHONDRODYSPLASIA PUNCTATA Author keyword 83 74% 6% 61
3 7 DEHYDROCHOLESTEROL Author keyword 79 61% 9% 84
4 CHILD SYNDROME Author keyword 44 85% 2% 23
5 SMITH LEMLI OPITZ Author keyword 42 94% 2% 15
6 DHCR7 Author keyword 39 73% 3% 30
7 SLOS Author keyword 32 78% 2% 21
8 RSH SYNDROME Author keyword 30 100% 1% 12
9 7 DEHYDROCHOLESTEROL REDUCTASE Author keyword 30 84% 2% 16
10 X LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Author keyword 27 92% 1% 11

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 SMITH LEMLI OPITZ SYNDROME 337 84% 19% 182 Search SMITH+LEMLI+OPITZ+SYNDROME Search SMITH+LEMLI+OPITZ+SYNDROME
2 CHONDRODYSPLASIA PUNCTATA 83 74% 6% 61 Search CHONDRODYSPLASIA+PUNCTATA Search CHONDRODYSPLASIA+PUNCTATA
3 7 DEHYDROCHOLESTEROL 79 61% 9% 84 Search 7+DEHYDROCHOLESTEROL Search 7+DEHYDROCHOLESTEROL
4 CHILD SYNDROME 44 85% 2% 23 Search CHILD+SYNDROME Search CHILD+SYNDROME
5 SMITH LEMLI OPITZ 42 94% 2% 15 Search SMITH+LEMLI+OPITZ Search SMITH+LEMLI+OPITZ
6 DHCR7 39 73% 3% 30 Search DHCR7 Search DHCR7
7 SLOS 32 78% 2% 21 Search SLOS Search SLOS
8 RSH SYNDROME 30 100% 1% 12 Search RSH+SYNDROME Search RSH+SYNDROME
9 7 DEHYDROCHOLESTEROL REDUCTASE 30 84% 2% 16 Search 7+DEHYDROCHOLESTEROL+REDUCTASE Search 7+DEHYDROCHOLESTEROL+REDUCTASE
10 X LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA 27 92% 1% 11 Search X+LINKED+DOMINANT+CHONDRODYSPLASIA+PUNCTATA Search X+LINKED+DOMINANT+CHONDRODYSPLASIA+PUNCTATA

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 DEFECTIVE CHOLESTEROL BIOSYNTHESIS 159 84% 9% 86
2 DELTA 7 STEROL REDUCTASE GENE 99 91% 4% 41
3 7 DEHYDROCHOLESTEROL 75 59% 9% 84
4 DELTA 7 STEROL REDUCTASE 66 74% 5% 49
5 LEMLI OPITZ SYNDROME 55 28% 17% 167
6 DOMINANT CHONDRODYSPLASIA PUNCTATA 49 66% 5% 45
7 7 DEHYDROCHOLESTEROL REDUCTASE GENE 38 89% 2% 17
8 SYNDROME SLOS 38 93% 1% 14
9 CONRADI HUNERMANN SYNDROME 35 81% 2% 21
10 CHILD SYNDROME 34 56% 4% 41

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Malformation syndromes caused by disorders of cholesterol synthesis 2011 92 294 60%
The Smith-Lemli-Opitz syndrome 2000 235 106 69%
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome 2014 3 40 75%
Human malformation syndromes due to inborn errors of cholesterol synthesis 2003 70 54 89%
Recent insights into the Smith-Lemli-Opitz syndrome 2005 39 69 78%
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients? 2006 31 25 100%
Smith-Lemli-Opitz syndrome 2011 20 114 88%
3 beta-hydroxysterol Delta(7)-reductase and the Smith-Lemli-Opitz syndrome 2005 52 106 58%
Inborn errors of sterol biosynthesis 2001 126 161 50%
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hunermann-Happle syndrome 2014 2 58 72%

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 UNIT MOL DYSMORPHOL 21 90% 0.9% 9
2 TRANSFER HIGH EDUC CHRON INFLAMMATORY D 7 43% 1.3% 13
3 HERITABLE DISORDERS BRANCH 4 13% 3.0% 29
4 SECT MOL DYSMORPHOL 3 40% 0.6% 6
5 SERV EMBRYOL 2 67% 0.2% 2
6 EXPT PHYLAXIOL 2 30% 0.6% 6
7 DOERNBECHER MEM HOSP CHILDREN 1 13% 1.0% 10
8 STUDY SERV 1 100% 0.2% 2
9 INBORN METAB DIS 1 12% 0.9% 9
10 FUNCT GENOM BIOCHIPS 1 12% 0.7% 7

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000132305 VERRUCIFORM XANTHOMA//EPIDERMOLYTIC ACANTHOMA//EPIDERMOLYTIC
2 0.0000070685 BOVINE HIPPOCAMPUS//SEROTONIN1A RECEPTOR//P MPPF
3 0.0000069477 24S HYDROXYCHOLESTEROL//CYP46//24 HYDROXYCHOLESTEROL
4 0.0000058841 STEROL METHYLTRANSFERASE//AZASTEROLS//STEROL C24 METHYLTRANSFERASE
5 0.0000053482 X LINKED ICHTHYOSIS//STEROID SULFATASE DEFICIENCY//STS GENE
6 0.0000053239 HOLOPROSENCEPHALY//OTOCEPHALY//HPE
7 0.0000047128 SREBP//SCAP//INSIG
8 0.0000047047 INCONTINENTIA PIGMENTI//HYPOMELANOSIS OF ITO//BLOCH SULZBERGER SYNDROME
9 0.0000045416 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
10 0.0000042743 PHYTANIC ACID//ZELLWEGER SYNDROME//RHIZOMELIC CHONDRODYSPLASIA PUNCTATA