ORDO
OrphanetRareDiseaseOntology
1-5 / 10 000
0
1-9 / 1 000 000
0
1-9 / 100 000
0
6-9 / 10 000
0
<1 / 1 000 000
0
>1 / 1000
0
CC BY 4.0
0
Moved to
0
Referred to
0
Unknown_epidemiological_range
0
X-linked dominant
3
X-linked recessive
3
Y-linked
3
adolescent
0
adult
0
age of onset
0
all ages
0
annual incidence
0
antenatal
0
autosomal dominant
3
autosomal recessive
3
biomarker tested in
0
birth prevalence
0
candidate gene tested in
0
case
0
cases/families
0
category
0
childhood
0
clinical entity
21749
clinical group
0
clinical subtype
0
curator_inference
9
disease-causing germline mutation(s) in
0
disease-causing germline mutation(s) (gain of function) in
0
disease-causing germline mutation(s) (loss of function) in
0
disease-causing somatic mutation(s) in
0
elderly
0
epidemiology
0
etiological subtype
0
expertlink
0
family
0
genetic material
0
geography
0
has_age_of_onset
0
has_annual_incidence_average_value
0
has_annual_incidence_range
0
has_birth_prevalence_average_value
0
has_birth_prevalence_range
0
has_cases/families_value
0
has_chromosomal location
0
has_inheritance
0
has_lifetime_prevalence_average_value
0
has_lifetime_prevalence_range
0
has_point_prevalence_average_value
0
has_point_prevalence_range
0
histopathological subtype
0
inactive clinical entity
368
infancy
0
inheritance
0
lifetime prevalence
0
major susceptibility factor in
0
manual_assertion
1
mitochondrial
3
modifying germline mutation in
0
multigenic/multifactorial
3
neonatal
0
no age of onset data available
0
no inheritance data available
3
not genetically inherited
3
oligogenic
3
part of a fusion gene in
0
part_of
58214
point prevalence
0
present_in
0
prevalence
0
role in the phenotype of
0
semi-dominant
3
unknown inheritance
3
URI
http://www.orpha.net/ORDO/Orphanet_409975
Label
1-5 / 10 000
http://www.ebi.ac.uk/efo/definition
Interval of prevalence or annual incidence of between 1 and 5 cases per 10,000 in the population.