•  People with rare diseases‎ (13 C)

A

•  Absent body parts‎ (3 C, 1 P)
•  Amyotrophic lateral sclerosis‎ (1 C, 25 P)
•  Arthrogryposis‎ (1 C, 2 P)

C

•  Rare cancers‎ (4 C, 107 P)
•  Cystic fibrosis‎ (3 C, 28 P)

D

•  Deaths from scleroderma‎ (17 P)
•  Deaths from thrombotic thrombocytopenic purpura‎ (2 P)

F

•  Fibrodysplasia ossificans progressiva‎ (6 P)

I

•  Rare infectious diseases‎ (39 P)
•  Intersex and medicine‎ (3 C, 39 P)
•  Intersex variations‎ (77 P)

M

•  Mesothelioma‎ (1 C, 11 P)
•  Mitochondrial diseases‎ (25 P)
•  Motor neuron diseases‎ (4 C, 25 P)

P

•  Progeroid syndromes‎ (1 C, 14 P)

S

•  Supernumerary body parts‎ (2 C, 24 P)
•  Rare syndromes‎ (3 C, 363 P)

T

•  Tay–Sachs disease‎ (4 P)

• Rare disease

0–9

• 2-Hydroxyglutaric aciduria
• 3-Hydroxyisobutyryl-CoA deacylase deficiency

A

• Abdominal epilepsy
• Abetalipoproteinemia
• Absent adrenal gland
• Absent pulmonary valve syndrome
• Acheiropodia
• Achondroplasia
• Achromatopsia
• Acrodysostosis
• Acrofrontofacionasal dysostosis
• Acrogeria
• Acromesomelic dysplasia
• Acromicric dysplasia
• Acute eosinophilic pneumonia
• Adducted thumb syndrome
• Adenosine deaminase deficiency
• Adenosine monophosphate deaminase deficiency type 1
• Adenylosuccinate lyase deficiency
• Adermatoglyphia
• Adiposis dolorosa
• Adiposogenital dystrophy
• Adipsia
• Adrenoleukodystrophy
• Adult-onset Still’s disease
• AIDS dysmorphic syndrome
• Albright’s hereditary osteodystrophy
• Aldolase A deficiency
• Alexander disease
• Alopecia universalis
• Alpha-mannosidosis
• ALS
• Alveolar capillary dysplasia
• Ameloblastic carcinoma
• Anomalous aortic origin of a coronary artery
• Anorectal anomalies
• Antithrombin III deficiency
• Antley–Bixler syndrome
• Aortopulmonary septal defect
• Aphallia
• Aposthia
• Aquagenic urticaria
• Argininosuccinic aciduria
• Arrhinia
• Arthrogryposis
• Aspartylglucosaminuria
• Asplenia with cardiovascular anomalies
• Atelosteogenesis type I
• Atelosteogenesis, type II
• Athetoid cerebral palsy
• Atransferrinemia
• Atypical hemolytic uremic syndrome
• Atypical trigeminal neuralgia
• Autosomal dominant hypophosphatemic rickets
• Autosomal dominant polycystic kidney disease
• Autosomal dominant porencephaly type I
• Autosomal recessive polycystic kidney disease

B

• Balo concentric sclerosis
• Banki syndrome
• Batten disease
• Behçet’s disease
• Benign acute childhood myositis
• Benign hereditary chorea
• Benign symmetric lipomatosis
• BENTA disease
• Beta-ketothiolase deficiency
• Beta-mannosidosis
• Beta thalassemia
• Bietti’s crystalline dystrophy
• Biliary atresia
• Binswanger’s disease
• Biotinidase deficiency
• Birdshot chorioretinopathy
• Bladder exstrophy
• Boomerang dysplasia
• Bosch-Boonstra-Schaaf optic atrophy syndrome
• Brachydactyly-preaxial hallux varus syndrome
• Branched-chain keto acid dehydrogenase kinase deficiency
• Breast hypertrophy

C

• Arterial calcification due to CD73 deficiency
• Calpainopathy
• Camurati–Engelmann disease
• Canadian Organization for Rare Disorders
• Canavan disease
• Carcinocythemia
• Carcinosarcoma
• Carnitine palmitoyltransferase I deficiency
• Carnitine-acylcarnitine translocase deficiency
• Carnosinemia
• Caroli disease
• Castleman disease
• Catamenial pneumothorax
• Catecholaminergic polymorphic ventricular tachycardia
• CD55 deficiency
• CDKL5 deficiency disorder
• Cenani–Lenz syndactylism
• Center of expertise for rare diseases
• Cerebroretinal microangiopathy with calcifications and cysts
• Cerebrotendineous xanthomatosis
• Cherubism
• Childhood granulomatous periorificial dermatitis
• CHIME syndrome
• Chorea-acanthocytosis
• Citrullinemia type I
• Cleidocranial dysostosis
• Cloacal exstrophy
• Clouston’s hidrotic ectodermal dysplasia
• COAT platelet defect
• Cockayne syndrome
• Cole–Carpenter syndrome
• Colloid cyst
• Combarros–Calleja–Leno syndrome
• Combined malonic and methylmalonic aciduria
• Confluent and reticulated papillomatosis
• Congenital chloride diarrhea
• Congenital disorder of glycosylation type IIc
• Congenital hyperinsulinism
• Congenital ichthyosiform erythroderma
• Congenital insensitivity to pain
• Congenital insensitivity to pain with anhidrosis
• Congenital lactic acidosis
• Congenital stromal corneal dystrophy
• Conjoined twins
• Copenhagen disease
• Corticobasal degeneration
• Cranio-lenticulo-sutural dysplasia
• Craniodiaphyseal dysplasia
• Craniofrontonasal dysplasia
• Craniometaphyseal dysplasia
• Craniopagus parasiticus
• Creutzfeldt–Jakob disease
• Cruveilhier–Baumgarten disease
• Cutis laxa
• Cutis marmorata telangiectatica congenita
• Cyclic neutropenia
• Cystinosis
• Cytochrome b5 deficiency
• Cytochrome P450 oxidoreductase deficiency

D

• Danon disease
• GLUT1 deficiency
• Deficiency of the interleukin-1–receptor antagonist
• Degos disease
• Dejerine–Sottas disease
• Dent’s disease
• Denys–Drash syndrome
• Dercum’s disease
• Dermatopathia pigmentosa reticularis
• Dextrocardia
• Diabetes insipidus
• Diffuse panbronchiolitis
• Diphallia
• Dipygus
• List of disorders included in newborn screening programs
• Donohue syndrome
• Dupuytren’s contracture
• Dysfibrinogenemia
• Dyskeratosis congenita

E

• EAST syndrome
• Ectopia cordis
• Ectrodactyly
• EIF5A
• Emmonsiosis
• Enamel-renal syndrome
• Endocardial fibroelastosis
• Enterolith
• Epidermodysplasia verruciformis
• Epidermolysis bullosa
• Epidermolysis bullosa acquisita
• Epidermolysis bullosa simplex
• Epidermolytic hyperkeratosis
• Epispadias
• Epithelioid trophoblastic tumour
• Erdheim–Chester disease
• Erythrokeratodermia variabilis
• Erythromelalgia
• Erythropoietic protoporphyria
• EUROCAT (medicine)
• Ewing sarcoma
• Extramammary Paget’s disease
• Extraskeletal Ewing sarcoma

F

• Fabry disease
• Facial onset sensory and motor neuronopathy
• Facioscapulohumeral muscular dystrophy
• Familial atrial fibrillation
• Familial Danish dementia
• Familial dysautonomia
• Familial hemiplegic migraine
• Familial isolated vitamin E deficiency
• Familial male-limited precocious puberty
• Familial nasal acilia
• Familial synovial chondromatosis with dwarfism
• Farber disease
• Fatal insomnia
• Febrile neutrophilic dermatosis
• Fibrocartilaginous mesenchymoma of bone
• Fibrochondrogenesis
• Fibrodysplasia ossificans progressiva
• Fibromuscular dysplasia
• Filippi syndrome