| Orphanet:409975 |
1-5 / 10 000 |
| Orphanet:409976 |
1-9 / 1 000 000 |
| Orphanet:409977 |
1-9 / 100 000 |
| Orphanet:409978 |
6-9 / 10 000 |
| Orphanet:664404 |
6q25.1 microdeletion syndrome |
| Orphanet:409979 |
<1 / 1 000 000 |
| Orphanet:409980 |
>1 / 1000 |
| Orphanet:675597 |
Acquired elastotic haemangioma |
| Orphanet:674653 |
Actinomyopathy-associated syndromic thrombocytopenia |
| Orphanet:662934 |
Acute megakaryoblastic leukemia in adult |
| Orphanet:675976 |
Adenomatoid tumour of the peritoneum |
| Orphanet:675814 |
Adenomatoid tumour of the pleura |
| Orphanet:675359 |
Anastomosing haemangioma |
| Orphanet:1239 |
Behr syndrome |
| Orphanet:673470 |
Benign vascular tumor |
| Orphanet:674968 |
Bilateral diffuse uveal melanocytic proliferation disease |
| Orphanet:673473 |
Borderline vascular tumor |
| Orphanet:664410 |
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome |
| Orphanet:664416 |
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation |
| Orphanet:667662 |
Breast implant-associated anaplastic large cell lymphoma |
| Orphanet:664401 |
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation |
| Orphanet:674965 |
Choroidal osteoma |
| Orphanet:673580 |
Classic pilocytic astrocytoma |
| Orphanet:659396 |
Cohen-Gibson syndrome |
| Orphanet:662392 |
Colonic duplication |
| Orphanet:676039 |
Combined immunodeficiency due to FOXN1 haploinsufficiency |
| Orphanet:665044 |
Common arterial trunk with aortic dominance |
| Orphanet:665058 |
Common arterial trunk with pulmonary dominance and interrupted aortic arch |
| Orphanet:664923 |
Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome |
| Orphanet:662184 |
Congenital muscular dystrophy-cataract-intellectual disability syndrome |
| Orphanet:672979 |
Craniosynostosis-facial dysmorphism-brachydactyly syndrome |
| Orphanet:672985 |
Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome |
| Orphanet:660017 |
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome |
| Orphanet:660012 |
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation |
| Orphanet:674947 |
Diffuse unilateral subacute neuroretinitis |
| Orphanet:675837 |
Diffused pleural mesothelioma |
| 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:674762 |
Early-onset autoinflammatory syndrome due to A20 haploinsufficiency |
| Orphanet:664511 |
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency |
| Orphanet:673568 |
Eccrine angiomatous hamartoma |
| Orphanet:662229 |
Episodic memory defect leukoencephalopathy |
| Orphanet:675396 |
Epithelioid hemangioma |
| Orphanet:659681 |
Erythropoietic porphyria |
| Orphanet:659609 |
Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome |
| Orphanet:662240 |
Frey syndrome |
| Orphanet:662388 |
Gallbladder duplication |
| Orphanet:662376 |
Gastric duplication |
| Orphanet:664438 |
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome |
| Orphanet:659908 |
Glanders |
| Orphanet:662255 |
Grisel syndrome |
| Orphanet:659672 |
Harderoporphyria |
| Orphanet:659698 |
Hepatic cutaneous porphyria |
| Orphanet:659694 |
Hepatic porphyria |
| Orphanet:664500 |
Hermansky-Pudlak syndrome due to AP3B1 deficiency |
| Orphanet:675362 |
Hobnail hemangioma |
| Orphanet:659463 |
Imagawa-Matsumoto syndrome |
| Orphanet:664456 |
Immune dysregulation disease with immunodeficiency associated with EBV susceptibility |
| Orphanet:664450 |
Inherited cancer-predisposing lymphoproliferative syndrome |
| Orphanet:662829 |
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome |
| Orphanet:667678 |
Intraoral basal cell carcinoma |
| Orphanet:659702 |
Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome |
| Orphanet:673525 |
Intravascular papillary endothelial hyperplasia |
| Orphanet:674943 |
Isolated angioid streaks |
| Orphanet:667589 |
Isolated congenital femoral bifurcation |
| Orphanet:674924 |
Isolated retinal racemose hemangioma |
| Orphanet:675380 |
Isolated segmental infantile hemangioma |
| Orphanet:662480 |
Jujeno-ileal duplication |
| Orphanet:673538 |
Littoral cell hemangioma of the spleen |
| Orphanet:675833 |
Localized pleural mesothelioma |
| Orphanet:661526 |
MBD4-related tumor predisposition syndrome |
| Orphanet:664377 |
MGP-related spondyloepiphyseal dysplasia |
| Orphanet:662175 |
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome |
| Orphanet:673466 |
Malignant vascular tumor |
| Orphanet:675404 |
May-Thurner syndrome |
| Orphanet:661412 |
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency |
| Orphanet:662179 |
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome |
| Orphanet:675369 |
Microvenular haemangioma |
| Orphanet:662762 |
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome |
| Orphanet:662216 |
Mucopolysaccharidosis type 10 |
| Orphanet:659904 |
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome |
| Orphanet:674953 |
Multiple evanescent white dot syndrome |
| Orphanet:662367 |
NESCAV syndrome |
| Orphanet:664912 |
Neonatal renal venous thrombosis |
| Orphanet:662207 |
Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome |
| Orphanet:662234 |
Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome |
| Orphanet:662198 |
Neurodevelopmental delay-intellectual disability-skeletal defects syndrome |
| Orphanet:662189 |
Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome |
| Orphanet:664430 |
Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome |
| Orphanet:664787 |
Nicolau syndrome |
| Orphanet:674896 |
Non-syndromic congenital phagocyte functional defect |
| Orphanet:659744 |
Ocular surface squamous neoplasia |
| Orphanet:660021 |
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome |
| Orphanet:659756 |
Oroya fever |
| Orphanet:659387 |
PRC-2 complex-related overgrowth spectrum |
| Orphanet:673543 |
Papillary hemangioma |
| Orphanet:674930 |
Perifoveal exudative vascular anomalous complex |
| Orphanet:676036 |
Peritoneal mesothelioma in situ |
| Orphanet:662169 |
Phelan-McDermid syndrome due to 22q13.3 deletion |
| Orphanet:662172 |
Phelan-McDermid syndrome due to SHANK3 mutation |
| Orphanet:673585 |
Pilocytic astrocytoma with histological features of anaplasia |
| Orphanet:662721 |
Placenta accreta spectrum disorder |
| Orphanet:675841 |
Pleural mesothelioma in situ |
| Orphanet:676030 |
Primary benign peritoneal tumor |
| Orphanet:675782 |
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN |
| Orphanet:674499 |
Proteoglycan-related bone disorder |
| Orphanet:673556 |
Pseudomyogenic hemangioendothelioma |
| Orphanet:660053 |
Psittacosis |
| Orphanet:662405 |
Pyloric duplication |
| Orphanet:659712 |
Rare yersiniosis |
| Orphanet:659642 |
Rauch-Steindl syndrome |
| Orphanet:673574 |
Reactive angioendotheliomatosis |
| Orphanet:659634 |
Relapsing isolated optic neuritis |
| Orphanet:659975 |
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome |
| Orphanet:675775 |
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome |
| Orphanet:675767 |
Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency |
| Orphanet:659626 |
Single isolated optic neuritis |
| Orphanet:662456 |
Small intestine duplication |
| Orphanet:664372 |
Soft and hard cleft palate |
| Orphanet:675216 |
Spinocerebellar ataxia type 27B |
| Orphanet:674958 |
Stellate multiform amelanotic choroidopathy |
| Orphanet:674648 |
Syndrome with congenital phagocyte functional defect as a major feature |
| Orphanet:675628 |
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome |
| Orphanet:674935 |
Torpedo Maculopathy |
| Orphanet:664901 |
Trigeminal trophic syndrome |
| Orphanet:409981 |
Unknown_epidemiological_range |
| Orphanet:662786 |
Vasa previa |
| Orphanet:659759 |
Verruga peruana |
| Orphanet:676033 |
Well-differentiated papillary mesothelial tumour of the peritoneum |
| Orphanet:675822 |
Well-differentiated papillary mesothelial tumour of the pleura |
| Orphanet:659873 |
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome |
| Orphanet:409934 |
X-linked dominant |
| Orphanet:676125 |
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency |
| 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 |