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Rare Disease Database

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Aarskog Syndrome

Also known as: Aarskog disease, Aarskog-Scott syndrome, AAS, faciodigitogenital syndrome, faciogenital dysplasia, FGDY, Scott Aarskog syndrome


Also known as: ABL, Bassen-Kornzweig syndrome, low density lipoprotein deficiency, microsomal triglyceride transfer protein deficiency, MTP deficiency


Also known as: Acanthocheilonemiasis perstans, Dipetalonema perstans, Dipetalonemiasis, Mansonella perstans

Acanthosis Nigricans

Also known as: AN
Subdivisions: Acanthosis Nigricans With Insulin Resistance Type A, Acanthosis Nigricans With Insulin Resistance Type B, Benign Acanthosis Nigricans, Drug-induced Acanthosis Nigricans, Hereditary Benign Acanthosis Nigricans, Malignant Acanthosis Nigricans, Pseudoacanthosis Nigricans


Also known as: familial apoceruloplasmin deficiency, hereditary ceruloplasmin deficiency


Also known as: cardiospasm, dyssynergia esophagus, esophageal aperistalsis, megaesophagus


Subdivisions: achondrogenesis type IA (Houston-Harris type), achondrogenesis type IB (Fraccaro type), achondrogenesis type II (Langer-Saldino type)


Also known as: ACH, achondroplastic dwarfism, dwarf, achondroplastic

Acid Sphingomyelinase Deficiency

Also known as: ASMD, ASM Deficiency, Acid Sphingomyelinase-deficient Niemann-Pick Disease, ASM-deficient Niemann-Pick Disease
Subdivisions: Niemann-Pick disease type A (NPD-A), Niemann-Pick disease type B (NPD-B)

Acoustic Neuroma

Also known as: acoustic neurilemoma, acoustic neurinoma, fibroblastoma, perineural, neurinoma of the acoustic nerve, neurofibroma of the acoustic nerve, schwannoma of the acoustic nerve, vestibular schwannoma

Acquired Lipodystrophy

Subdivisions: acquired generalized lipodystrophy (AGL; Lawrence syndrome), acquired partial lipodystrophy (APL; Barraquer-Simons syndrome), high active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV), localized lipodystrophy

Acquired Neuromyotonia

Also known as: Isaacs-Merten syndrome, Isaacs' syndrome, continuous muscle fiber activity syndrome

Acrocallosal Syndrome, Schinzel Type

Also known as: Absence of Corpus Callosum, Schinzel Type, ACLS, ACS, Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum, Schinzel Acrocallosal Syndrome


Also known as: acrodysostosis with or without hormone resistance, Arkless-Graham syndrome, Maroteaux-Malamut syndrome

Acromesomelic Dysplasia

Also known as: acromesomelic dwarfism
Subdivisions: acromesomelic dysplasia, Maroteaux type, acromesomelic dysplasia, Osebold-Remondini type, acromesomelic dysplasia with genital anomalies, fibular hypoplasia and complex brachydactyly (Du Pan syndrome), Grebe dysplasia (including Hunter-Thompson type)

ACTH Deficiency

Also known as: adrenocorticotropic hormone deficiency, isolated

Acute Cholecystitis

Also known as: acute acalculous cholecystitis (AAC), acute calculous cholecystitis

Acute Myeloid Leukemia

Also known as: acute granulocytic leukemia, acute myelogenous leukemia, acute myelogenous leukemia, acute nonlymphocytic leukemia, AML

Acute Respiratory Distress Syndrome

Also known as: acute lung injury, adult respiratory distress syndrome, ARDS, noncardiogenic pulmonary edema, increased-permeability pulmonary edema

Adams-Oliver Syndrome

Also known as: limb scalp and skull defects, AOS, congenital scalp defects with distal limb anomalies, congenital scalp defects with distal limb reduction anomalies, limb, scalp, and skull defects, Adams Oliver syndrome

ADCY5-Related Dyskinesia

Subdivisions: familial dyskinesia with facial myokymia (FDFM), variant of familial benign chorea

Addison’s Disease

Also known as: chronic adrenocortical insufficiency, primary adrenal insufficiency, primary failure adrenocortical insufficiency
Subdivisions: No subdivisions found

Adenylosuccinate Lyase Deficiency

Also known as: adenylosuccinase deficiency, succinylpurinemic autism, ADSL deficiency
Subdivisions: adenylosuccinate lyase deficiency fatal neonatal form, adenylosuccinate lyase deficiency type I (severe form), adenylosuccinate lyase deficiency type II (mild/moderate form)

Adie Syndrome

Also known as: Adie's Pupil, Adie's Syndrome, Adie's Tonic Pupil, Holmes-Adie Syndrome, tonic pupil syndrome

ADNP Syndrome

Also known as: ADNP-related intellectual disability, autism-related spectrum disorder, Helsmoortel-Van Der Aa syndrome (HVDAS)

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Also known as: hereditary diffuse leukoencephalopathy with spheroids (HDLS) , leukoencephalopathy, diffuse hereditary, with spheroids , adult-onset leukodystrophy with neuroaxonal spheroids , autosomal dominant leukoencephalopathy with neuroaxonal spheroids , neuroaxonal leukodystrophy , pigmentary orthochromatic leukodystrophy (POLD) , CSF1R-related leukoencephalopathy , ALSP

Adult-Onset Still’s Disease

Also known as: adult Still's disease, AOSD, Wissler-Fanconi syndrome
Subdivisions: monophasic AOSD, polyphasic (intermittent) AOSD, chronic AOSD

AEC Syndrome

Also known as: ankyloblepharon-ectodermal defects-cleft lip/palate, ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, Hay-Wells syndrome, Rapp-Hodgkin syndrome


Also known as: hypogammaglobulinemia
Subdivisions: autosomal recessive agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia (XLA)

Agenesis of Corpus Callosum

Also known as: ACC, Corpus Callosum, Agenesis
Subdivisions: Acquired Form of ACC, Aicardi Syndrome, Autosomal Recessive Inheritance ACC (e.g. Andermann syndrome), X-Linked Dominant Inheritance ACC (e.g. ARX)

Ahumada-Del Castillo Syndrome

Also known as: Amenorrhea-Galactorrhea-FSH Decrease Syndrome, Argonz-Del Castillo Syndrome, Galactorrhea-Amenorrhea without Pregnancy, Nonpuerperal Galactorrhea-Amenorrhea

Aicardi Syndrome

Also known as: agenesis of corpus callosum with chorioretinitis abnormality, agenesis of corpus callosum with infantile spasms and ocular anomalies, callosal agenesis and ocular abnormalities, chorioretinal anomalies with ACC, corpus callosum, agenesis of chorioretinal abnormality
Subdivisions: No subdivisions found

AIDS Dysmorphic Syndrome

Also known as: Dysmorphic Acquired Immune Deficiency Syndrome, Dysmorphic AIDS, Fetal Acquired Immune Deficiency Syndrome (AIDS), Fetal AIDS Infection, Fetal Effects of AIDS, HIV Embryopathy, Perinatal AIDS

ALAD Porphyria

Also known as: ADP, ALAD deficiency, ALA-dehydratase deficient porphyria, delta-aminolevulinate dehydratase deficiency, Doss porphyria, porphyria of Doss

Alagille Syndrome

Also known as: Alagille-Watson syndrome, arteriohepatic dysplasia, cholestasis with peripheral pulmonary stenosis, syndromic bile duct paucity, ALGS

Alexander Disease

Also known as: dysmyelogenic leukodystrophy, dysmyelogenic leukodystrophy-megalobare, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, hyaline panneuropathy, leukodystrophy with rosenthal fibers, megalencephaly with hyaline inclusion, megalencephaly with hyaline panneuropathy

Alopecia Areata

Also known as: Alopecia Celsi, Alopecia Cicatrisata, Alopecia Circumscripta, Cazenave's Vitiligo, Celsus' Vitiligo, Jonston's Alopecia, Porrigo Decalvans, Vitiligo Capitis
Subdivisions: Alopecia Seminuniversalis, Alopecia Totalis, Alopecia Universalis

Alpers Disease

Also known as: Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis, Alpers Progressive Infantile Poliodystrophy, Diffuse Cerebral Degeneration in Infancy, Poliodystrophia Cerebri Progressiva, Progressive Cerebral Poliodystrophy

Alpha Thalassemia

Subdivisions: Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis

Alpha Thalassemia X-linked Intellectual Disability Syndrome

Also known as: ATR-X syndrome, Carpenter-Waziri syndrome, cerebrofaciogenital syndrome, Chudley-Lowry syndrome, Holmes-Gang syndrome, XLID-hypotonic face syndrome, X-linked intellectual disability - arch fingerprints- hypotonia syndrome


Also known as: alpha-mannosidase B deficiency, lysosomal alpha-D-mannosidase deficiency, mannosidase, alpha B, lysosomal, mannosidosis, mannosidosis, alpha B, lysosomal
Subdivisions: alpha-mannosidosis, type I, alpha-mannosidosis, type II, alpha-mannosidosis, type III

Alport Syndrome

Also known as: hematuria-nephropathy deafness (former), hemorrhagic familial nephritis (former), hereditary deafness and nephropathy (former), hereditary nephritis (former), hereditary nephritis with sensory deafness (former)
Subdivisions: autosomal dominant Alport syndrome (ADAS), autosomal recessive Alport syndrome (ARAS), X-linked Alport syndrome (XLAS)


Also known as: Adamantinoma, Mandibular Ameloblastoma, Maxillary Ameloblastoma, Odontogenic Tumor

Amelogenesis Imperfecta

Also known as: AI
Subdivisions: hypoplastic (type I), hypomaturation (type II), hypocalcified (type III), hypomaturation/hypoplasia/taurodontism (type IV)

Amniotic Band Syndrome

Also known as: ABS, amnion rupture sequence, amniotic bands, amniotic band sequence, amniotic deformity, adhesions, mutilations (ADAM) complex, congenital constriction rings, constriction band syndrome, limb body wall complex, Streeter anomaly, Streeter bands, Streeter dysplasia


Subdivisions: AL amyloidosis, ATTR amyloidosis – ATTRm or ATTRwt amyloidosis, AA amyloidosis, dialysis-related beta2-microglobulin amyloidosis (ABM2)

Andersen Disease (GSD IV)

Also known as: amylopectinosis, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV

Anemia, Hemolytic, Acquired Autoimmune

Also known as: Anemia, Idiopathic Autoimmune Hemolytic, Autoimmune Hemolytic Anemia, Idiopathic Autoimmune Hemolytic Anemia, Immune Hemolytic Anemia
Subdivisions: Anemia, Cold Antibody Hemolytic, Anemia, Warm Antibody Hemolytic

Anemia, Megaloblastic

Also known as: Folate Deficiency Anemia, Folic Acid Deficiency Anemia, Vitamin B12 Deficiency Anemia

Anemia, Pernicious

Also known as: Addison-Biermer Anemia, Addisonian Pernicious Anemia, Addison's Anemia, Primary Anemia
Subdivisions: Adult Onset Pernicious Anemia, Congenital Pernicious Anemia due to Defect of Intrinsic Factor, Enterocyte Cobalamin Malabsorption, Enterocyte Intrinsic Factor Receptor, Defect of, Gastric Intrinsic Factor, Failure of Secretion, Juvenile Intestinal Malabsorption of Vit B12

Angelman Syndrome

Also known as: AS, happy puppet syndrome (obsolete)
Subdivisions: No subdivisions found

Angioimmunoblastic T-Cell Lymphoma

Also known as: AILD, AITL, angioimmunoblastic lymphadenopathy with dysproteinemia, immunoblastic lymphadenopathy, lymphogranulomatosis X

Aniridia Cerebellar Ataxia Mental Deficiency

Also known as: Aniridia-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Oligophrenia, Gillespie Syndrome


Also known as: Black Baine, Malignant Edema, Malignant Pustule, Ragpicker Disease, Siberian Plague, Woolsorter's disease
Subdivisions: Cutaneous Anthrax, Gastrointestinal Anthrax, Inhalational Anthrax

Antiphospholipid Syndrome

Also known as: antiphospholipid antibody syndrome, APS, APLS, Hughes syndrome, lupus anticoagulant syndrome
Subdivisions: primary antiphospholipid syndrome , secondary antiphospholipid syndrome, catastrophic antiphospholipid syndrome

Antithrombin Deficiency

Also known as: AT 3, AT III deficiency, thrombophilia, hereditary, due to AT III
Subdivisions: antithrombin III deficiency, classical (type I), AT III variant IlA, AT III variant IlB

Antley-Bixler Syndrome

Also known as: ABS, craniosynostosis, choanal atresia, radial humeral synostosis, trapezoidocephaly-multiple synostosis syndrome
Subdivisions: ABS1, ABS2

Aplasia Cutis Congenita

Also known as: ACC, Congenital Defect of the Skull and Scalp, Congenital ulcer of the newborn, Scalp Defect Congenital

Apnea, Infantile

Also known as: Infantile Sleep Apnea
Subdivisions: Central Apnea, Diaphragmatic Apnea, Mixed Apnea, Obstructive Apnea, Upper Airway Apnea

Appendiceal Cancer and Tumors

Also known as: low grade mucinous neoplasm of the appendix (LAMN), high grade mucinous neoplasms of the appendix (HAMN), mucinous adenocarcinoma of the appendix, adenocarcinoma of the appendix, signet ring cell cancer of the appendix, goblet cell carcinoid , cystadenocarcinoma, nonmucinous adenocarcinoma, colonic type adenocarcinoma
Subdivisions: goblet cell carcinoid , low-grade mucinous neoplasm of the appendix (LAMN), high-grade mucinous neoplasm of the appendix (HAMN), adenocarcinoma: well-differentiated, adenocarcinoma: moderately-differentiated, adenocarcinoma: poorly-differentiated, adenocarcinoma: signet ring cell (SRC)


Subdivisions: Apraxia, Buccofacial, Apraxia, Classic, Apraxia, Constructional, Apraxia, Ideational, Apraxia, Ideokinetic, Apraxia, Ideomotor, Apraxia, Motor, Apraxia, Oculomotor

Arachnoid Cysts

Also known as: cysts, arachnoid
Subdivisions: intracranial arachnoid cysts, spinal arachnoid cysts

Argininosuccinic Aciduria

Also known as: arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA , ASL deficiency

Arteriovenous Malformation

Also known as: AVM
Subdivisions: arteriovenous malformation of the brain, arteriovenous malformation of the spine

Arteritis, Takayasu

Also known as: Aorta Arch Syndrome, Brachiocephalic Ischemia, Idiopathic Arteritis of Takayasu, Martorell Syndrome, Occlusive Thromboaortopathy, Pulseless Disease, Reverse Coarction, Takayasu Disease, Young Female Arteritis

Arthritis, Infectious

Also known as: Bacterial Arthritis, Purulent Arthritis, Pyarthrosis, Pyogenic Arthritis, Septic Arthritis, Suppurative Arthritis

ASAH1-Related Disorders

Also known as: acid ceramidase deficiency, Farber disease, Farber lipogranulomatosis
Subdivisions: spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Asherman’s Syndrome

Also known as: intrauterine synechiae, uterine synechiae, intrauterine adhesions (IUA)


Also known as: AGA, AGU, Aspartylglucosaminidase Deficiency, Glycosylasparaginase Deficiency


Subdivisions: allergic bronchopulmonary aspergillosis, allergic Aspergillus sinusitis, chronic pulmonary aspergillosis, cutaneous (skin) aspergillosis , invasive aspergillosis

Asphyxiating Thoracic Dystrophy

Also known as: asphyxiating thoracic dysplasia, ATD, Jeune syndrome, thoracic-pelvic-phalangeal dystrophy, asphyxiating thoracic chondrodystrophy, chondroectodermal dysplasia-like syndrome, infantile thoracic dystrophy, Jeune thoracic dystrophy


Subdivisions: grade I astrocytoma, grade II astrocytoma, grade III astrocytoma, grade IV astrocytoma

Ataxia Telangiectasia

Also known as: AT, Cerebello-Oculocutaneous Telangiectasia, Immunodeficiency with Ataxia Telangiectasia, Louis-Bar Syndrome

ATR-16 Syndrome

Also known as: alpha-thalassemia-intellectual disability syndrome, chromosome 16-related, alpha-thalassemia-intellectual disability syndrome, deletion type


Also known as: congenital atransferrinemia, hereditary atransferrinemia, hypotransferrinemia

Atrial Septal Defects

Also known as: ASD, Atrioseptal Defects
Subdivisions: Ostium Primum Defect (endocardial cushion defects included), Ostium Secundum Defect, Sinus Venosus

Atrioventricular Septal Defect

Also known as: Atrioventricular Canal Defects, AVSD, Common Atrioventricular Canal (CAVC) Defect, Endocardial Cushion Defects
Subdivisions: Complete Atrioventricular Septal Defect, Incomplete Atrioventricular Septal Defect, Partial Atrioventricular Septal Defect, Transitional Atrioventricular Septal Defect

Autoimmune Blistering Diseases

Also known as: autoimmune bullous disorders
Subdivisions: epidermolysis bullosa acquista, IgA-mediated bullous dermatoses, pemphigoid, pemphigus

Autoimmune Hepatitis

Also known as: AIH, autoimmune chronic active hepatitis, lupoid hepatitis
Subdivisions: type 1 AIH, type 2 AIH, variant AIH

Autoimmune Polyendocrine Syndrome Type II

Also known as: Diabetes Mellitus, Addison's Disease, Myxedema, Multiple Endocrine Deficiency Syndrome, Type II, PGA II, Polyglandular Autoimmune Syndrome, Type II, Polyglandular Deficiency Syndrome, Type II, Schmidt Syndrome

Autoimmune Polyglandular Syndrome Type 1

Also known as: APS-1, APS type 1, autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome, autoimmune polyendocrinopathy type 1 (APECED), polyglandular autoimmune (PGA) syndrome type 1

Autosomal Dominant Tubulo-Interstitial Kidney Disease

Also known as: uromodulin kidney disease (UKD), mucin-1 kidney disease (MKD), familial juvenile hyperuricemic nephropathy, medullary cystic kidney disease, renin associated kidney disease, uromodulin associated kidney disease, medullary cystic kidney disease type 1, medullary cystic kidney disease type 2, ADTKD
Subdivisions: autosomal dominant tubulo-interstitial kidney disease due to MUC1 mutations (mucin-1 kidney disease, autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (uromodulin kidney disease), autosomal dominant tubulo-interstitial kidney disease due to renin mutations

Axenfeld-Rieger Syndrome

Also known as: Rieger syndrome, iridogoniodysgenesis with somatic anomalies, Rieger anomaly, Axenfeld syndrome, Axenfeld anomaly