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Prod
duct 1: Inventory of rare diseasees with annotatio
ons: No cost – frree access Rare
R
Diseases and cross‐references c
List including preferre
L
ed name, synonyms iin English, French, Ge
erman, Italian, Portuguese, Spanish or o Dutch, Orpha num
mber, type of entriees, short definition of the disease. Entries are cross‐
referenced with ICD‐1
10, OMIM, UMLS, M
MeSH, MedDRA and tthe alignments are ch
haracterized in order to indicate if the
o
e terms are perfectlyy equivalent (exact maapping) or not. Classifications
C
of raare diseases (poly‐h
hierarchy) Clinical classsifications of rare diseases Rare cardiac diseases Rare developmental anomalies during
embryogenesis Rare inborn errors off metabolism Rare gastroenterologgical diseases Rare neurological disseases Rare abdominal surggical diseases Rare hepatic diseasees Rare respiratory diseeases Rare urogenital diseaases Rare surgical thoracic diseases Rare skin diseases Rare renal diseases
Rare eye diseases Rare endocrine diseaases Rare haematological diseases Rare immunological diseases Rare syste
emic and rhumatological diseases Rare odon
ntological diseases Rare circu
ulatory system diseasees Rare bone
e diseases Rare otorhinolaryngological disseases Rare inferrtility Rare neop
plastic diseases Rare infecctious diseases Rare intoxxications Rare gynaaecological and obstettric diseases Rare surgiical maxillo‐facial diseeases Rare allerggic diseases
Rare terattologic diseases Rare cardiac malformations etic diseases Rare gene
Rare rheu
umatologic diseases o
of childhood Rare sucking/swallowing diseases
Catalogue of productts 2016
Price list for one‐year licence + monthly update
u
data.org on a private site at orphad
D
Diseases with their associated genes
Table with Orpha num
T
mber of the disease linked to the associate
ed genes, with a charracterisation of the relationship betw
ween gene and disease (causative, modifie
er, susceptibility, or p
playing a role in the phenotype) and the kind of mutation germline or somatic. In addition, the tab
ble includes the name of the gene in E
n
English, its Orpha num
mber, chromosomal llocation, symbol and synonyms and cross‐referenced with
h UniProtKB, HGNC, O
OMIM, Genatlas, ense
embl, Reactome and IUPHAR‐DB. INSERM US14 ‐ Orrphanet, me Maladies Rarees, 96 rue Didot, Plateform
75014 Paris – France Tel: +33 1 56 53
3 81 37 Phenotypes associa
P
ted with rare diseaases Table T
with diseases listed in Orphanet annotated with HP
PO phenotypes. Thee alignment is characterised by freequency (obligatory,, very frequent, fre
equent, occasional, very rare or excluded) e
and whetther the annotated
d HPO term is a major diagnostic criterion c
or a pathognomonic sign o
p
of the rare disease. Table T
with the source, the date and the validation status off the association bettween the rare disease and HPO term
d
ms. Emaail: [email protected] Product 2: Textual information: 15,000 Eurros Orpha number of the disease, absstract (about 250 words) in English
h,
Table with O
French, Germ
man, Italian, Portugu
uese, Spanish and Dutch. Table with O
Orpha number of the disease including url of extern
nal sources (review
w
articles, emerrgency guidelines, cllinical practice guideelines) providing texxtual information. Table with O
Orpha number of tthe disease including specific query tto PubMed on thee
disease. Product 5: Diagnostic tests & clin
nical laboratoriess: 10,000 Euros Table T
with name and a
acronym of th
he laboratory, nam
me and acronym of o the hosting in
nstitution of thee laboratory, speciality of the laaboratory (molecu
ular genetics, biochemistry, b
cytogenetics, immunology, haemato
ology, virology, parasitology, bacteriology, b
patho
ology, address of th
he hosting institution (city and country), status of in
nstitution (private ffor profit, private n
not for profit, publicc for profit, public n
not for profit), accreditation a
statuss of the laboratorry and EQA particcipation, list of diagnostic tests provided by the labo
p
oratory. Diagnostic tests are
D
e defined by a the n
name of the test, th
he purpose, speciality, technique and a objective of th
he test, preferred name and Orpha number of diseasses and genes tested, EQA particip
pation for a specific test. E
Product 3:: Patient organissations: 3,000 Euros Table with O
Orpha number off the disease, nam
me of patient orgganisation, countryy,
geographical coverage (regional,, national, internatio
onal). p
organisation network, country o
of
Table with Orrpha number of the disease, name of patient
the coordinattor, geographical covverage (regional, naational, internationaal). Product 4: Expert centres: 5,000 Euros Table with O
Orpha number of th
he disease, name of expert centres, centre of expertise
status, type of service provideed (genetic counseelling, disease man
nagement), type o
of
i
(generaal hospital, private
public (children, adults), institution, type of institution
us
hospital, reseearch institute, teaaching hospital, uniiversity research ceentre, other), statu
of institution
n (private for profit, private not for profit,
p
public for p
profit, public not fo
or
profit), city, country. Table with Orpha number of th
he disease, name of
o expert centre’s n
network, country o
of
the coordinattor, geographical covverage (regional, naational, internationaal). Please P
see Annex 1 for more inforrmation about the
e list of purposess, specialities, objectives and techn
o
niques referenced iin our database. han drugs: 10,00
00 Euros Product 6: Orph
Table
T
with Orpha number
n
of the diseeases for which the
e substance is indiccated, name of
the product, chemical name, trade naame, type of produ
uct, INN, ATC codee, status of the
substance, orphan designation zone, link to PSO/EPAR,, designation holdeer, MA holder,
associated
a
trials. Product 7
7: Research activvities: 15,000 Eu
uros Pro
oduct 8: Rare disseases epidemiological data: 10,,000 Euros Table w
with Orpha number o
of the diseases, nam
me of the research prroject, type of research
project (see table), name of the lab, instituttion, type of institution (general hospiital,
private hospital, research institute, teaching hospital, university reesearch centre, other),
status o
of institution (privatee for profit, private not for profit, public for profit, public not
for proffit), city, country. 26 types of reseaarch projects Ressearch project Gene(s) ssearch Mu
utation(s) search Gene expression profile Genotype‐phenotype correelation In vvitro functional study Animal model creation/stu
udy Human physiopathology sttudy Bio
omarkers development Pree‐clinical gene therapy Pree‐clinical cell therapy Pree‐clinical drug developm
ment/drug delivery Diaagnostic tool/protocol development Pree‐clinical vaccine development Meedical device/instrument development Epidemiological studyy
Observational clinical study Health sociology studyy Health economics stud
dy Public health study (exxcluding health economics) Natural history study
Drug repurposing Small molecule screen
ning Biotechnology innovattion Induced pluripotent sttem cells (iPS) creation/study Ontology/bioinformattics study Outcomes measures d
development Table w
with Orpha number o
of the disease, name of research projecct’s network, countrry of
the coordinator, geographiccal coverage (regionaal, national, internatiional). name and Orpha number of the diseasses, their type of inh
Table with preferred
T
heritance, in
nterval average age of onset and age off death. oduct 9: All products: 65,000 Euro
os Pro
Clinical trial activities Table w
with Orpha number of the diseases, name of the cliniical trial, name of the
sponsorr, phase of trial, type of trial (drugg, protocol, gene therapy, cell therrapy,
vaccine, medical device), naame of the substancce/product. with Orpha numberr of the disease, name
n
of clinical triaal network, countryy of
Table w
the coo
ordinator, geographiccal coverage (regionaal, national, internatiional). Diseasee Registries ‐ Mutation registries/Datab
bases Table w
with Orpha numbeer of the disease, name of the pattient registry, URL of
registryy, country. Table w
with Orpha number o
of the disease, namee of the patient registry network, countryy of
the coo
ordinator, geographiccal coverage (regionaal, national, internatiional). Table w
with Orpha numbeer of the disease, Orphan number o
of the gene, namee of
mutatio
on registry/database,, URL of registry, country. Biobankks Table with Orpha number of the disease, name off the biobank, URL of tthe biobank, country.. Table w
with Orpha numbeer of the disease, name of biobank’s network, countryy of
the coordinator, geographiccal coverage (regional, national, internatio
onal). Table with preferred
T
name and Orpha number of the diseasses, groups of diseasses or sub tyypes: point prevalen
nce, birth prevalence, lifelong prevalencce and incidence, orr the number of families reported t
o
together with their respective intervals per geographical arrea. Annex : Product 5 List of purp
poses, specialitiess, objectives and ttechniques in diaggnostic tests Purposes: •
•
•
•
•
•
•
•
Anteenatal diagnosis Preim
mplantation diagno
osis Posttnatal diagnosis Pressymptomatic diagno
osis Pharrmacogenetics Risk assessment New
wborn screening Som
matic genetics Specialities: •
•
•
•
•
•
•
•
•
•
•
•
Moleecular genetics Cyto
ogenetics Biochemical genetics Paraasitology Bactteriology Virology Mycology Imm
munology Hem
matology Path
hology Imagging Otheer Obje
ectives: •
•
•
•
•
•
•
•
•
•
•
Targeted mutaation analysis Mutation scanning/screening and
d sequence analysiss of selected exons Sequence anallysis: entire coding region Uniparental disomy study Methylation an
nalysis Deletion / Dup
plication analysis Detection of ch
hromosome alterattions large in size Detection of m
microdeletions/micrroduplications Chromosomal instability Analyte / Enzyme assay Protein expresssion Tech
hniques: •
•
•
•
•
•
•
•
•
•
•
•
•
Sanger sequen
ncing NGS sequencin
ng PCR based tech
hniques MLPA based teechniques Array based teechniques Microsatellite analysis BS‐ Pyrosequencing FISH M‐FISH / SKY
Karyotyping Chromosomal instability Immunohistocchemistry Western Blot