Featured rare diseases
BETA To date, we have nearly 6000 rare diseases included in the RARE List. Can't find the disease you're looking for? Help continue to build this resource and request to add it.
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Anti-HLA Hyperimmunization
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Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
ALSP is a rare, inherited, autosomal dominant neurological disease with high penetrance that affects an estimated 10,000 people in the
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Acromegaloid Features, Overgrowth, Cleft palate and Hernia
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- AADC deficiency
- ABCD syndrome
- ACAD8 deficiency
- ACADM deficiency
- ACAT2, Acetocoenzyme A acetyltransferase 2
- ACDC
- ACF
- ACH
- ACLS
- ACPS2
- ACS
- ACTH Deficiency
- ACTH Resistance
- ACV
- ADCA
- ADCY5-related dyskinesia
- ADERM
- ADG
- ADLD
- ADNFLE
- ADNP syndrome
- ADNP-related intellectual disability and autism spectrum disorder
- ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
- ADP
- Aagenaes Syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome
- Aase Smith Syndrome I
- Aase Smith Syndrome II
- Aase syndrome
- Aase-Smith Syndrome
- Abderhalden Kaufmann Lignac Syndrome
- Abdominal Chemodectomas with Cutaneous Angiolipomas
- Abdominal Lymphangiomatosis
- Aberrant Subclavian Artery
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abrikosoff's granulous cell tumor
- Abrikosov's Tumor
- Abruzzo Erickson Syndrome
- Absence of Fingerprints Congenital Milia
- Absence of Gluteal Muscle
- Absence of Septum Pellucidum
- Absence of Tibia
- Absence of Tibia with Polydactyly
- Absence of fingerprints
- Absence of the testes, congenital or acquired
- Absence seizures
- Absense of fingerprints with congenital milia
- Absent Breasts and Nipples
- Absent Corpus Callosum Cataract Immunodeficiency
- Absent T Lymphocytes
- Absent middle phalanges of digits 2-5 with nail dysplasia
- Acalvaria
- Acanthamoeba Infection
- Acanthocheilonemiasis
- Acanthocheilonemiasis perstans
- Acanthocytosis
- Acanthocytosis with Neurologic Disorder
- Acanthosis Nigricans Muscle Cramps Acral Enlargement
- Acatalasemia
- Acatalasia
- Accessory Pancreas
- Aceruloplasminemia
- Acetyl CoA Acetyltransferase 2 Deficiency
- Acetyl-Carnitine Deficiency
- Acetyl-CoA: carboxylase deficiency
- Achalasia
- Achalasia Microcephaly Syndrome
- Achalasia, Familial Esophageal
- Achalasia-Addisonianism-Alacrimia syndrome
- Acheiropodia
- Acheiropody
- Achondrogenesis
- Achondrogenesis Fraccaro Type
- Achondrogenesis Houston-Harris Type
- Achondrogenesis Kozlowski Type
- Achondrogenesis Type 1A
- Achondrogenesis Type 1B
- Achondrogenesis Type 2
- Achondrogenesis, Brazilian
- Achondrogenesis, Type II
- Achondroplasia
- Achondroplasia and Severe Combined Immunodeficiency
- Achondroplasia and Swiss Type Agammaglobulinemia
- Achondroplastic dwarfism
- Achromatopsia
- Achromatopsia 2
- Achromatopsia 4
- Achromatopsia Incomplete X-Linked
- Acid maltase deficiency disease
- Acoustic Neuroma
- Acquired Agranulocytosis
- Acquired Angioedema
- Acquired Reactive Perforating Collagenosis (ARPC)
- Acquired partial lipodystrophy
- Acro Coxo Mesomelic Dysplasia
- Acro-cardio-facial syndrome
- Acrocallosal Syndrome, Schinzel Type
- Acrocallosal syndrome
- Acrocapitofemoral Dysplasia
- Acrocephalopolydactylous Dysplasia
- Acrocephalopolydactylous dysplasia
- Acrocephalopolydactyly
- Acrocephalopolysyndactyly type 2
- Acrocephalosyndactyly, Type 1
- Acrocephaly Pulmonary Stenosis Mental Retardation
- Acrodentoosteodysplasia
- Acrodermatitis Enteropathica
- Acrodysostosis
- Acrodysplasia Scoliosis
- Acrodysplasia with Ossification Abnormalities, Short Stature and Fibular Hypoplasia
- Acrofacial Dysostosis
- Acrofacial Dysostosis Ambiguous Genitalia
- Acrofacial Dysostosis Atypical Postaxial
- Acrofacial Dysostosis Catania Type
- Acrofacial Dysostosis Palagonia Type
- Acrofacial Dysostosis Preis Type
- Acrofacial Dysostosis Rodriguez Type
- Acrofrontofacionasal Dysostosis Syndrome
- Acrogeria, Gottron Type
- Acrokeratoelastoidosis of Costa
- Acromegaloid Changes, Cutis Verticis Gyrata and Corneal Leukoma
- Acromegaloid Facial Appearance Syndrome
- Acromegaloid Features, Overgrowth, Cleft palate and Hernia
- Acromegaly
- Acromelic Frontonasal Dysostosis
- Acromelic frontonasal dysplasia
- Acromesomelic Dysplasia 2A
- Acromesomelic Dysplasia 3
- Acromesomelic Dysplasia Hunter Thompson Type
- Acromesomelic Dysplasia Maroteaux Type
- Acromesomelic Dysplasia, Demirhan Type
- Acromesomelic Dysplasia, Grebe Type
- Acromesomelic dysplasia
- Acromicric Dysplasia
- Acroosteolysis Dominant Type
- Acroosteolysis with osteoporosis and changes in skull and mandible
- Acropectoral Syndrome
- Acropectorovertebral Dysplasia F Form
- Acrorenal Mandibular Syndrome
- Acrorenal Syndrome Recessive
- Acrospiroma
- Activated PI3K-delta syndrome
- Acute Disseminated Encephalomyelitis
- Acute Erythroblastic Leukemia
- Acute Erythroleukemia
- Acute Flaccid Myelitis
- Acute Hemorrhagic Leukoencephalitis
- Acute Idiopathic Polyneuritis
- Acute Intermittent Porphyria
- Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia
- Acute Lymphoblastic Leukemia, Childhood
- Acute Megakaryoblastic Leukemia
- Acute Monoblastic Leukemia
- Acute Myeloblastic Leukemia Type 1
- Acute Myeloblastic Leukemia with Maturation
- Acute Myeloblastic Leukemia without Maturation
- Acute Myelocytic Leukemia
- Acute Myelogenous Leukemia
- Acute Myeloid Leukemia, Adult
- Acute Myeloid Leukemia, Childhood
- Acute Myelomonocytic Leukemia
- Acute fatty liver of pregnancy
- Acute febrile mucocutaneous lymph node syndrome
- Acute lymphoblastic leukemia
- Acute lymphocytic leukemia
- Acute neuronopathic Gaucher's disease
- Acute periodontitis
- Acyl-CoA Oxidase Deficiency
- Acyl-CoA dehydrogenase family – member 8
- Adactylia Unilateral
- Adams Oliver Syndrome
- Adams-Oliver syndrome
- Addison's Disease
- Adducted Thumb Syndrome Recessive Form
- Adducted Thumbs Dundar Type
- Adducted thumb and clubfoot syndrome
- Adenine Phosphoribosyltransferase Deficiency
- Adenocarcinoid Tumor
- Adenoid cystic carcinoma
- Adenomatous polyposis coli
- Adenosine Deaminase Deficiency
- Adenosine Monophosphate Deaminase 1 Deficiency
- Adenylosuccinase Deficiency
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- Adhesive Arachnoiditis
- Adiposis dolorosa
- Adiposodysgenesis
- Adiposogenital dystrophy
- Adnexal Spiradenoma/Cylindroma of a Sweat Gland
- Adolescent myoclonic epilepsy
- Adrenal aplasia
- Adrenal gland hypofunction
- Adrenal gland tumor
- Adrenal hypoplasia
- Adrenocortical Carcinoma
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- Adult Cardiac Fibroma
- Adult Ceroid Lipofuscinosis Neuronal 4B
- Adult Growth Hormone Deficiency
- Adult NCL
- Adult Neuronal Ceroid Lipofuscinosis 4A
- Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
- Adult Opsoclonus Myoclonus Syndrome
- Adult Polyglucosan Body Disease
- Adult onset ataxia with oculomotor apraxia
- Adult-onset citrullinemia type II
