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ORDO

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Unmapped mappable terms (!excluded, !deprecated)

subject_id subject_label
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