| Orphanet:409975 |
1-5 / 10 000 |
| Orphanet:409976 |
1-9 / 1 000 000 |
| Orphanet:409977 |
1-9 / 100 000 |
| Orphanet:699850 |
2p25.3 microduplication syndrome |
| Orphanet:695611 |
3q26q28 deletion syndrome |
| Orphanet:409978 |
6-9 / 10 000 |
| Orphanet:409979 |
<1 / 1 000 000 |
| Orphanet:409980 |
>1 / 1000 |
| Orphanet:694356 |
ADAR-related hereditary spastic paraplegia |
| Orphanet:700160 |
ADNP-related blepharophimosis-intellectual disability syndrome |
| Orphanet:692790 |
ATP6AP1-CDG |
| Orphanet:695131 |
Acinar cystic transformation of the pancreas |
| Orphanet:693661 |
Activated PI3K-delta syndrome 1 |
| Orphanet:693681 |
Activated PI3K-delta syndrome 2 |
| Orphanet:675976 |
Adenomatoid tumour of the peritoneum |
| Orphanet:699745 |
Adult CLN1 disease |
| Orphanet:699812 |
Adult CLN5 disease |
| Orphanet:700477 |
Adult CLN6 disease |
| Orphanet:696925 |
Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency |
| Orphanet:693647 |
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome |
| Orphanet:693627 |
Agammaglobulinemia-skin involvement-failure to thrive syndrome |
| Orphanet:694946 |
Alazami-Yuan syndrome |
| Orphanet:699057 |
Annular erythema of infancy |
| Orphanet:700170 |
Asymetric thumb-handgrip weakness-distal myopathy |
| Orphanet:698945 |
Autoimmune heparin-induced thrombocytopenia |
| Orphanet:700124 |
Autosomal recessive hereditary chronic pancreatitis |
| Orphanet:692193 |
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome |
| Orphanet:699708 |
CLN14 disease |
| Orphanet:700188 |
Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy |
| Orphanet:698260 |
Carotid web |
| Orphanet:699835 |
Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome |
| Orphanet:696078 |
Central Giant Cell Granuloma |
| Orphanet:692271 |
Cerebral proliferative angiopathy |
| Orphanet:696942 |
Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency |
| Orphanet:694922 |
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome |
| Orphanet:697389 |
Combined immunodeficiency due to HELIOS deficiency |
| Orphanet:700205 |
Combined immunodeficiency due to IKBKB gain-of-function mutation |
| Orphanet:697394 |
Combined immunodeficiency due to c-REL deficiency |
| Orphanet:695172 |
Combined immunodeficiency due to dimerization defective IKAROS mutation |
| Orphanet:699578 |
Combined immunodeficiency with low Ig due to BCL10 deficiency |
| Orphanet:697385 |
Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency |
| Orphanet:699596 |
Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency |
| Orphanet:697403 |
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency |
| Orphanet:699593 |
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency |
| Orphanet:696851 |
Common variable immunodeficiency and related disorders |
| Orphanet:696881 |
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency |
| Orphanet:696894 |
Common variable immunodeficiency phenotype due to CD21 deficiency |
| Orphanet:696904 |
Common variable immunodeficiency phenotype due to IRF2BP2 deficiency |
| Orphanet:697417 |
Common variable immunodeficiency phenotype due to SEC61A1 deficiency |
| Orphanet:696931 |
Common variable immunodeficiency phenotype due to TWEAK deficiency |
| Orphanet:696857 |
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations |
| Orphanet:696870 |
Common variable immunodeficiency phenotype due to germinal monogenic mutation |
| Orphanet:696907 |
Common variable immunodeficiency phenotype due to homozygous TACI deficiency |
| Orphanet:696863 |
Common variable immunodeficiency phenotype due to somatic mutations |
| Orphanet:231205 |
Common variable immunodeficiency without known genetic defect |
| Orphanet:700487 |
Congenital CLN10 disease |
| Orphanet:228429 |
Congenital generalized lipodystrophy type 4 |
| Orphanet:696189 |
Congenital generalized lipodystrophy type 1 |
| Orphanet:696289 |
Congenital generalized lipodystrophy type 2 |
| Orphanet:696206 |
Congenital generalized lipodystrophy type 3 |
| Orphanet:694228 |
Congenital intrahepatic arterioportal fistula |
| Orphanet:696897 |
Congenital megaprepuce |
| Orphanet:697986 |
Congenital peritoneal encapsulation |
| Orphanet:697356 |
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome |
| Orphanet:697096 |
Cryptosporidiosis |
| Orphanet:700508 |
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy |
| Orphanet:664734 |
EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
| Orphanet:664699 |
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency |
| Orphanet:695783 |
EDEM3-CDG |
| Orphanet:693912 |
EPHB4-related capillary malformation-arteriovenous malformation |
| Orphanet:697414 |
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation |
| Orphanet:700136 |
Early-onset idiopathic chronic pancreatitis |
| Orphanet:697091 |
Emergomycosis |
| Orphanet:696175 |
Encapsulating peritoneal sclerosis |
| Orphanet:698005 |
Epilepsy with generalized tonic-clonic seizures alone |
| Orphanet:693549 |
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome |
| Orphanet:696830 |
Female adnexal tumor of probable Wolffian origin |
| Orphanet:699683 |
Fibro-adipose vascular anomaly |
| Orphanet:698012 |
Fibromuscular dysplasia |
| Orphanet:698069 |
Fibromuscular dysplasia of the arteries of the extremities |
| Orphanet:698036 |
Fibromuscular dysplasia of the cervical and intracranial arteries |
| Orphanet:698059 |
Fibromuscular dysplasia of the coronary arteries |
| Orphanet:698043 |
Fibromuscular dysplasia of the renal arteries |
| Orphanet:698063 |
Fibromuscular dysplasia of the visceral arteries |
| Orphanet:697101 |
Fontaine progeroid syndrome |
| Orphanet:699068 |
Fontan-associated liver disease |
| Orphanet:693869 |
Gallblader arteriovenous malformation |
| Orphanet:693832 |
Gastrointestinal tract arteriovenous malformation |
| Orphanet:695032 |
Giant omphalocele |
| Orphanet:698085 |
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome |
| Orphanet:697067 |
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome |
| Orphanet:693846 |
Hepatic arteriovenous malformation |
| Orphanet:700111 |
Homozygous hemoglobin O Arab disease |
| Orphanet:700336 |
Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency |
| Orphanet:700333 |
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency |
| Orphanet:699599 |
ICHAD syndrome |
| Orphanet:689231 |
IFIH1-related hereditary spastic paraplegia |
| Orphanet:700133 |
Idiopathic chronic pancreatitis |
| Orphanet:692296 |
Idiopathic triglyceride deposit cardiomyovasculopathy |
| Orphanet:699590 |
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency |
| Orphanet:695807 |
Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome |
| Orphanet:695136 |
Infant-type hemispheric glioma |
| Orphanet:699718 |
Infantile CLN1 disease |
| Orphanet:699751 |
Infantile CLN2 disease |
| Orphanet:697160 |
Infantile epileptic spasms syndrome |
| Orphanet:694963 |
Inflammatory breast cancer |
| Orphanet:694956 |
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome |
| Orphanet:697760 |
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome |
| Orphanet:697764 |
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation |
| Orphanet:694937 |
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency |
| Orphanet:684752 |
Isolated anal canal duplication |
| Orphanet:692256 |
Isolated anogenital granulomatosis |
| Orphanet:662473 |
Isolated duodenal duplication |
| Orphanet:662480 |
Isolated jejuno-ileal duplication |
| Orphanet:699739 |
Juvenile CLN1 disease |
| Orphanet:700497 |
Juvenile CLN10 disease |
| Orphanet:699769 |
Juvenile CLN2 disease |
| Orphanet:699780 |
Juvenile CLN3 disease |
| Orphanet:699807 |
Juvenile CLN5 disease |
| Orphanet:700472 |
Juvenile CLN6 disease |
| Orphanet:699734 |
Late infantile CLN1 disease |
| Orphanet:700492 |
Late infantile CLN10 disease |
| Orphanet:699761 |
Late infantile CLN2 disease |
| Orphanet:699802 |
Late infantile CLN5 disease |
| Orphanet:700467 |
Late infantile CLN6 disease |
| Orphanet:700484 |
Late infantile CLN8 disease |
| Orphanet:695183 |
Late-onset combined immunodeficiency due to ICOS deficiency |
| Orphanet:695191 |
Late-onset combined immunodeficiency due to ICOSL deficiency |
| Orphanet:700139 |
Late-onset idiopathic chronic pancreatitis |
| Orphanet:697132 |
Lymphoepithelial cyst of the pancreas |
| Orphanet:695110 |
MAN2B2-CDG |
| Orphanet:692173 |
Marbach-Schaaf neurodevelopmental syndrome |
| Orphanet:699844 |
Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome |
| Orphanet:699605 |
NEMO deleted exon 5 autoinflammatory syndrome |
| Orphanet:696874 |
NFKB1-related immune dysregulation |
| Orphanet:700325 |
NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome |
| Orphanet:699678 |
Necrotizing cellulitis |
| Orphanet:699697 |
Necrotizing fasciitis |
| Orphanet:699702 |
Necrotizing myositis |
| Orphanet:693802 |
Neonatal-infantile onset epilepsy syndrome |
| Orphanet:698090 |
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome |
| Orphanet:696063 |
PLIN4-related distal myopathy |
| Orphanet:696242 |
PPARG-associated congenital generalized lipodystrophy |
| Orphanet:693826 |
Pancreatic arteriovenous malformation |
| Orphanet:698914 |
Platelet-activating anti-platelet factor 4 disorder |
| Orphanet:695631 |
Primary vitreoretinal large B-cell lymphoma |
| Orphanet:699796 |
Protracted juvenile CLN3 disease |
| Orphanet:695023 |
Pure squamous carcinoma of the urothelial tract |
| Orphanet:692812 |
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome |
| Orphanet:693907 |
RASA1-related capillary malformation-arteriovenous malformation |
| Orphanet:689234 |
RNASEH2B-related hereditary spastic paraplegia |
| Orphanet:693839 |
Renal arteriovenous malformation |
| Orphanet:700163 |
SMPX-related distal myopathy |
| Orphanet:697734 |
ST3GAL3-CDG |
| Orphanet:699618 |
Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency |
| Orphanet:699615 |
Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency |
| Orphanet:699822 |
Sickle cell S-Lepore disease |
| Orphanet:700090 |
Sickle cell S-O Arab disease |
| Orphanet:700107 |
Sickle cell S-other specified hemoglobin variant |
| Orphanet:700085 |
Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant |
| Orphanet:695147 |
Sickle cell-beta plus-thalassemia |
| Orphanet:695140 |
Sickle cell-beta zero-thalassemia |
| Orphanet:695038 |
Small omphalocele |
| Orphanet:521268 |
Sodium-dependent multivitamin transporter deficiency |
| Orphanet:693863 |
Splenic arteriovenous malformation |
| Orphanet:699021 |
Spontaneous heparin-induced thrombocytopenia |
| Orphanet:67037 |
Squamous cell carcinoma of head and neck |
| Orphanet:700154 |
TARDBP-related predominantly upper-limb distal myopathy |
| Orphanet:697053 |
Talaromycosis |
| Orphanet:692305 |
Triglyceride deposit cardiomyovasculopathy |
| Orphanet:409981 |
Unknown_epidemiological_range |
| Orphanet:695020 |
Urachal carcinoma |
| Orphanet:693872 |
Urinary tract arteriovenous malformation |
| Orphanet:693815 |
Uterine arteriovenous malformation |
| Orphanet:699029 |
Vaccine-induced immune thrombotic thrombocytopenia |
| Orphanet:699645 |
Variable age-onset epilepsy syndrome |
| Orphanet:693855 |
Visceral arteriovenous malformation |
| Orphanet:676033 |
Well-differentiated papillary mesothelial tumour of the peritoneum |
| Orphanet:696945 |
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency |
| Orphanet:700143 |
X-linked distal myopathy |
| Orphanet:409934 |
X-linked dominant |
| Orphanet:409932 |
X-linked recessive |
| Orphanet:409938 |
Y-linked |
| Orphanet:694304 |
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome |
| Orphanet:694308 |
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation |
| 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 |