| Orphanet:409975 |
1-5 / 10 000 |
| Orphanet:409976 |
1-9 / 1 000 000 |
| Orphanet:409977 |
1-9 / 100 000 |
| Orphanet:687695 |
10p13-p14 deletion syndrome |
| Orphanet:687424 |
10p15 microdeletion syndrome |
| Orphanet:684742 |
2q13 microdeletion syndrome |
| Orphanet:409978 |
6-9 / 10 000 |
| Orphanet:409979 |
<1 / 1 000 000 |
| Orphanet:409980 |
>1 / 1000 |
| Orphanet:689401 |
Acquired hypothalamic obesity |
| Orphanet:674653 |
Actinomyopathy-associated syndromic thrombocytopenia |
| Orphanet:689430 |
Adenoid ameloblastoma |
| Orphanet:675976 |
Adenomatoid tumour of the peritoneum |
| Orphanet:689021 |
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome |
| Orphanet:686482 |
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome |
| Orphanet:662392 |
Colonic duplication |
| Orphanet:688594 |
Combined immunodeficiency due to RELB deficiency |
| Orphanet:685017 |
Combined immunodeficiency due to TBX1 deficiency |
| Orphanet:662473 |
Duodenal duplication |
| Orphanet:664734 |
EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
| Orphanet:664726 |
EBV-induced lymphoproliferative disease due to CD137 deficiency |
| Orphanet:664711 |
EBV-induced lymphoproliferative disease due to PRKCD deficiency |
| Orphanet:664699 |
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency |
| Orphanet:664729 |
EBV-induced lymphoproliferative disease due to TET2 deficiency |
| Orphanet:686465 |
Fibrotic hypersensitivity pneumonitis |
| Orphanet:662388 |
Gallbladder duplication |
| Orphanet:662376 |
Gastric duplication |
| Orphanet:684290 |
Hypertrophic olivary degeneration |
| Orphanet:685067 |
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome |
| Orphanet:689231 |
IFH1-related hereditary spastic paraplegia |
| Orphanet:686447 |
IFNG-responsive severe mendelian susceptibility to mycobacterial diseases |
| Orphanet:664456 |
Immune dysregulation disease with immunodeficiency associated with EBV susceptibility |
| Orphanet:664450 |
Inherited cancer-predisposing lymphoproliferative syndrome |
| Orphanet:684232 |
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome |
| Orphanet:684216 |
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome |
| Orphanet:684226 |
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome |
| Orphanet:688649 |
Isolated adrenal medullary hyperplasia |
| Orphanet:684752 |
Isolated anal canal duplication |
| Orphanet:686556 |
Isolated congenital cholesteatoma of the middle ear |
| Orphanet:667589 |
Isolated congenital femoral bifurcation |
| Orphanet:684247 |
Isolated growth hormone deficiency type IV |
| Orphanet:280914 |
Isolated idiopathic anterior uveitis |
| Orphanet:689001 |
Isolated spontaneous vertebral artery dissection |
| Orphanet:662480 |
Jejuno-ileal duplication |
| Orphanet:686999 |
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome |
| Orphanet:686495 |
MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome |
| Orphanet:684757 |
Malformation of the anal canal and the rectum |
| Orphanet:685010 |
Mesothelioma of the tunica vaginalis |
| Orphanet:689829 |
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome |
| Orphanet:688581 |
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome |
| Orphanet:687741 |
Multisystem Langerhans cell histiocytosis |
| Orphanet:684305 |
NOCGUS syndrome |
| Orphanet:684240 |
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome |
| Orphanet:686462 |
Non-fibrotic hypersensitivity pneumonitis |
| Orphanet:674896 |
Non-syndromic congenital phagocyte functional defect |
| Orphanet:689422 |
Okur-Chung neurodevelopmental syndrome |
| Orphanet:685082 |
Pediatric acute respiratory distress syndrome |
| Orphanet:689397 |
Poirier-Bienvenue neurodevelopmental syndrome |
| Orphanet:686468 |
Post 5-alpha-reductase inhibitors treatment syndrome |
| Orphanet:686475 |
Post-selective serotonin reuptake inhibitor sexual dysfunction |
| Orphanet:676030 |
Primary benign peritoneal tumor |
| Orphanet:685004 |
Primary pericardial mesothelioma |
| Orphanet:687733 |
Pulmonary Langerhans cell histiocytosis |
| Orphanet:662405 |
Pyloric duplication |
| Orphanet:689234 |
RNASEH2B-related hereditary spastic paraplegia |
| Orphanet:686488 |
RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome |
| Orphanet:659712 |
Rare yersiniosis |
| Orphanet:688543 |
Reticular dysgenesis-like severe combined immunodeficiency |
| Orphanet:688995 |
Scarlet fever |
| Orphanet:689408 |
Shashi-Pena syndrome |
| Orphanet:687738 |
Single-system multifocal Langerhans cell histiocytosis |
| Orphanet:662456 |
Small intestine duplication |
| Orphanet:688523 |
Splenic venous malformation |
| Orphanet:689822 |
Structural heart defects-renal anomalies syndrome |
| Orphanet:674648 |
Syndrome with congenital phagocyte functional defect as a major feature |
| Orphanet:688642 |
Turnpenny-Fry syndrome |
| Orphanet:687730 |
Unifocal Langerhans cell histiocytosis |
| Orphanet:409981 |
Unknown_epidemiological_range |
| Orphanet:662786 |
Vasa previa |
| Orphanet:676033 |
Well-differentiated papillary mesothelial tumour of the peritoneum |
| Orphanet:409934 |
X-linked dominant |
| Orphanet:409932 |
X-linked recessive |
| Orphanet:409938 |
Y-linked |
| Orphanet:659707 |
Yersinia pseudotuberculosis infection |
| Orphanet:409947 |
adolescent |
| Orphanet:409948 |
adult |
| Orphanet:C023 |
age of onset |
| Orphanet:409950 |
all ages |
| Orphanet:409967 |
annual incidence |
| Orphanet:409943 |
antenatal |
| Orphanet:409929 |
autosomal dominant |
| Orphanet:409930 |
autosomal recessive |
| Orphanet:409968 |
birth prevalence |
| Orphanet:409973 |
case |
| Orphanet:409970 |
cases/families |
| Orphanet:557495 |
category |
| Orphanet:409946 |
childhood |
| Orphanet:377794 |
clinical group |
| Orphanet:377796 |
clinical subtype |
| Orphanet:409949 |
elderly |
| Orphanet:C003 |
epidemiology |
| Orphanet:377795 |
etiological subtype |
| Orphanet:409974 |
family |
| Orphanet:C009 |
geography |
| Orphanet:C032 |
has_annual_incidence_average_value |
| Orphanet:C020 |
has_annual_incidence_range |
| Orphanet:C029 |
has_birth_prevalence_average_value |
| Orphanet:C026 |
has_birth_prevalence_range |
| Orphanet:C024 |
has_cases/families_value |
| Orphanet:C030 |
has_lifetime_prevalence_average_value |
| Orphanet:C027 |
has_lifetime_prevalence_range |
| Orphanet:C028 |
has_point_prevalence_average_value |
| Orphanet:C025 |
has_point_prevalence_range |
| Orphanet:377797 |
histopathological subtype |
| Orphanet:409945 |
infancy |
| Orphanet:C005 |
inheritance |
| Orphanet:409969 |
lifetime prevalence |
| Orphanet:409933 |
mitochondrial |
| Orphanet:409931 |
multigenic/multifactorial |
| Orphanet:409944 |
neonatal |
| Orphanet:409951 |
no age of onset data available |
| Orphanet:409940 |
no inheritance data available |
| Orphanet:409936 |
oligogenic |
| Orphanet:409966 |
point prevalence |
| Orphanet:C004 |
prevalence |
| Orphanet:409937 |
semi-dominant |
| Orphanet:409939 |
unknown inheritance |