List of Rare Diseases
Rare Diseases
A
* Aagenaes syndrome
* Aarskog syndrome
* Aase Smith syndrome
* Aase syndrome
* ABCD syndrome
* Abderhalden-Kaufmann-Lignac syndrome
* Abdominal aortic aneurysm
* Abdominal chemodectomas with cutaneous angiolipomas
* Abdominal cystic lymphangioma
* Abdominal obesity metabolic syndrome
* Aberrant subclavian artery
* Abetalipoproteinemia
* Abidi X-linked mental retardation syndrome
* Ablepharon macrostomia syndrome
* Abrikosov's tumor
* Abruzzo Erickson syndrome
* Absence defect of limbs, scalp, and skull
* Absence of Gluteal muscle
* Absence of septum pellucidum
* Absence of Tibia
* Absence of tibia with polydactyly
* Absent abdominal musculature with microphthalmia and joint laxity
* Absent breasts and nipples
* Absent corpus callosum cataract immunodeficiency
* Absent duct of Santorini
* Absent patella
* Absent T lymphocytes
* Abuse dwarfism syndrome
* Acalvaria
* Acanthamoeba infection
* Acanthocheilonemiasis
* Acanthokeratodermia
* Acanthoma
* Acanthosis nigricans
* Acanthosis nigricans muscle cramps acral enlargement
* Acardia
* Acatalasemia
* Accessory deep peroneal nerve
* Accessory navicular bone
* Accessory pancreas
* Aceruloplasminemia
* Acetylcarnitine deficiency
* Acetyl-coa acetyltransferase 2 deficiency
* Achalasia
* Achalasia Addisonianism Alacrimia syndrome
* Achalasia alacrimia syndrome
* Achalasia microcephaly
* Achalasia, familial esophageal
* Achard syndrome
* Achard-Thiers syndrome
* Acheiropodia
* Achondrogenesis type 1A
* Achondrogenesis type 1B
* Achondrogenesis type 2
* Achondrogenesis, type 3
* Achondrogenesis, type 4
* Achondroplasia
* Achondroplasia and Swiss type agammaglobulinemia
* Achromatopsia 1
* Achromatopsia 2
* Achromatopsia 3
* Achromatopsia incomplete, X-linked
* Acidemia propionic
* Acidemia, isovaleric
* Acinic cell carcinoma
* Acitretin embryopathy
* Ackerman syndrome
* Acoustic neuroma
* Acquired agranulocytosis
* Acquired amegakaryocytic thrombocytopenia
* Acquired angioedema
* Acquired hypoprothrombinemia
* Acquired ichthyosis
* Acquired prothrombin deficiency
* Acquired pure megakaryocytic aplasia
* Acral dysostosis dyserythropoiesis
* Acral lentiginous melanoma
* Acro coxo mesomelic dysplasia
* Acrocallosal syndrome, Schinzel type
* Acrocephalopolydactyly
* Acrocephaly pulmonary stenosis mental retardation
* Acrodermatitis
* Acrodermatitis enteropathica
* Acrodysostosis
* Acrodysplasia scoliosis
* Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
* Acrofacial dysostosis ambiguous genitalia
* Acrofacial dysostosis atypical postaxial
* Acrofacial dysostosis Catania form
* Acrofacial dysostosis Preis type
* Acrofacial dysostosis Rodriguez type
* Acrofacial dysostosis, Nager type
* Acrofacial dysostosis, Palagonia 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
* Acromegaloid hypertrichosis syndrome
* Acromegaly
* Acromelic frontonasal dysplasia
* Acromesomelic dysplasia
* Acromesomelic dysplasia Campailla Martinelli type
* Acromesomelic dysplasia Hunter Thompson type
* Acromesomelic dysplasia, Maroteaux type
* Acromicric dysplasia
* Acroosteolysis dominant type
* Acropectoral syndrome
* Acropectorenal field defect
* Acropectorovertebral dysplasia
* Acrorenal mandibular syndrome
* Acrorenal syndrome recessive
* Acrospiroma
* ACTH deficiency
* ACTH resistance
* Actinic cheilitis
* Actinomycetales infection
* Acutane embryopathy
* Acute articular rheumatism
* Acute biphenotypic leukemia
* Acute cholinergic dysautonomia
* Acute disseminated encephalomyelitis
* Acute erythroblastic leukemia
* Acute erythroleukemia
* Acute fatty liver of pregnancy
* Acute hemorrhagic leukoencephalitis
* Acute idiopathic polyneuritis
* Acute intermittent porphyria
* Acute lymphoblastic leukemia congenital sporadic aniridia
* Acute lymphoblastic leukemia, adult
* Acute megakaryoblastic leukemia
* Acute monoblastic leukemia
* Acute mountain sickness
* Acute myeloblastic leukemia type 1
* Acute myeloblastic leukemia type 2
* Acute myeloblastic leukemia type 3
* Acute myeloblastic leukemia type 4
* Acute myeloblastic leukemia type 5
* Acute myeloblastic leukemia type 6
* Acute myeloblastic leukemia type 7
* Acute myeloblastic leukemia with maturation
* Acute myeloblastic leukemia without maturation
* Acute myelocytic leukemia
* Acute myelogenous leukemia
* Acute myeloid leukemia, adult
* Acute myelomonocytic leukemia
* Acute necrotizing ulcerative gingivitis
* Acute non lymphoblastic leukemia (generic term)
* Acute posterior multifocal placoid pigment
* Acute promyelocytic leukemia
* Acute respiratory distress syndrome
* Acute zonal occult outer retinopathy
* Acyl-CoA oxidase deficiency
* Adactylia unilateral dominant
* Adams Nance syndrome
* Adams Oliver syndrome
* Addison's disease
* Adducted thumb and clubfoot syndrome
* Adducted thumb syndrome recessive form
* Adducted thumbs Dundar type
* Adenine phosphoribosyltransferase deficiency
* Adenoameloblastoma
* Adenocarcinoid tumor
* Adenocarcinoma of lung
* Adenoid cystic carcinoma
* Adenoma of the adrenal gland
* Adenomyosis
* Adenosarcoma of the uterus
* Adenosine deaminase deficiency
* Adenosine monophosphate deaminase deficiency
* Adenosine triphosphatase deficiency, anemia due to
* Adenylosuccinate lyase deficiency
* Adie syndrome
* Adiposis dolorosa
* Adnexal, spiradenoma/cylindroma, of a sweat gland
* Adrenal adenoma, familial
* Adrenal cancer
* Adrenal gland hyperfunction
* Adrenal gland hypofunction
* Adrenal hyperplasia
* Adrenal hyperplasia 2
* Adrenal hyperplasia, congenital, type 5
* Adrenal hypertension
* Adrenal incidentaloma
* Adrenal macropolyadenomatosis
* Adrenal medulla neoplasm
* Adrenocortical carcinoma
* Adrenoleukodystrophy, autosomal, neonatal form
* Adrenomyodystrophy
* Adult low grade infiltrative supratentorial Astrocytoma Oligodendroglioma
* Adult onset angioedema
* Adult onset Still's disease
* Adult progressive spinal muscular atrophy Aran Duchenne type
* Adult spinal muscular atrophy
* ADULT syndrome
* Adult-onset citrullinemia type 2
* Advanced sleep phase syndrome
* Aerobic actinomyces infection
* Afibrinogenemia
* African trypanosomiasis
* Agammaglobulinemia, microcephaly, and severe dermatitis
* Agammaglobulinemia, non-Bruton type
* Agammaglobulinemia, X-linked, type 2
* Aganglionosis, total intestinal
* Aggressive fibromatosis
* Aggressive systemic mastocytosis
* Aglossia and Situs Inversus
* Agnathia-microstomia-synotia
* Agnosia
* Agyria pachygyria polymicrogyria
* Agyria-pachygyria type 1
* Ahumada-Del Castillo syndrome
* Aicardi syndrome
* Aicardi-Goutieres syndrome
* Aicardi-Goutieres syndrome 5
* AIDS Dementia Complex
* AIDS dysmorphic syndrome
* Ainhum
* Akaba Hayasaka syndrome
* Akesson syndrome
* Aksu von Stockhausen syndrome
* Al Awadi syndrome
* Al Gazali Aziz Salem syndrome
* Al Gazali Donnai Mueller syndrome
* Al Gazali Hirschsprung syndrome
* Al Gazali Khidr Prem Chandran syndrome
* Al Gazali Sabrinathan Nair syndrome
* Alagille syndrome
* Albers-Schonberg disease
* Albinism
* Albinism deafness syndrome
* Albinism immunodeficiency
* Albinism ocular late onset sensorineural deafness
* Albinism oculocutaneous, Hermansky-Pudlak type
* Albinism, minimal pigment type
* Albrecht Schneider Belmont syndrome
* Albright like syndrome
* Albright's hereditary osteodystrophy
* Alcohol antenatal infection
* Aldolase A deficiency
* Aldred syndrome
* Aleukemic leukemia cutis
* Alexander disease
* Al-gazali syndrome
* Alkaptonuria
* Allain Babin Demarquez syndrome
* Allan-Herndon-Dudley syndrome
* Allanson Pantzar McLeod syndrome
* Allergic angiitis
* Allergic autoimmune thyroiditis
* Allergic bronchopulmonary aspergillosis
* Allergic encephalomyelitis
* Aloi Tomasini Isaia syndrome
* Alopecia areata
* Alopecia congenita keratosis palmoplantaris
* Alopecia contractures dwarfism mental retardation
* Alopecia epilepsy oligophrenia syndrome of Moynahan
* Alopecia hypogonadism extrapyramidal disorder
* Alopecia immunodeficiency
* Alopecia macular degeneration growth retardation
* Alopecia mental retardation hypogonadism
* Alopecia mental retardation syndrome
* Alopecia totalis
* Alopecia universalis
* Alopecia universalis onychodystrophy vitiligo
* Alopecia, epilepsy, pyorrhea, mental subnormality
* Alpers disease
* Alpers syndrome
* Alpha 1-antitrypsin deficiency
* Alpha-2 deficient collagen disease
* Alpha-ketoglutarate dehydrogenase deficiency
* Alpha-L-iduronidase deficiency
* Alpha-mannosidosis type 1
* Alpha-mannosidosis, type 2
* Alpha-Thalassemia
* Alpha-thalassemia-abnormal morphogenesis
* Alport syndrome
* Alport syndrome, dominant type
* Alport syndrome, recessive type
* Alsing syndrome
* Alstrom syndrome
* Alternating hemiplegia of childhood
* Aluminium lung
* Alveolar capillary dysplasia
* Alveolar echinococcosis
* Alveolar soft part sarcoma
* Alveolitis, extrinsic allergic
* Alves Castelo dos Santos syndrome
* Alzheimer disease type 1
* Alzheimer disease type 2
* Alzheimer disease type 4
* Alzheimer disease, familial
* Alzheimer disease, familial, type 3
* Alzheimer's disease without Neurofibrillary tangles
* Amastia
* Amaurosis congenita of Leber
* Amaurosis congenita of Leber, type 1
* Amaurosis congenita of Leber, type 2
* Amaurosis congenita of Leber, type 5
* Amaurosis congenita of Leber, type 9
* Amaurosis fugax
* Amaurosis hypertrichosis
* Ambras syndrome
* Amebiasis
* Amelia cleft lip palate hydrocephalus iris coloboma
* Amelogenesis imperfecta
* Amelogenesis Imperfecta hypomaturation type
* Amelogenesis imperfecta local hypoplastic form
* Amelogenesis imperfecta nephrocalcinosis
* Amelogenesis imperfecta pigmented hypomaturation type
* Amelogenesis imperfecta, hypoplastic type, IG
* Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
* Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
* Ameloonychohypohidrotic syndrome
* Aminoacidopathies
* Aminoaciduria
* Aminoacylase 1 deficiency
* Amish lethal microcephaly
* Amniotic band syndrome
* Ampola syndrome
* Amyloid angiopathy
* Amyloid Neuropathies
* Amyloid polyneuropathy, transthyretin related
* Amyloidosis
* Amyloidosis of gingiva and conjunctiva mental retardation
* Amyloidosis, familial visceral
* Amyopathic dermatomyositis
* Amyoplasia
* Amyoplasia mandibulofacial dysostosis
* Amyotonia congenita
* Amyotrophic lateral sclerosis
* Amyotrophic lateral sclerosis type 2
* Amyotrophic lateral sclerosis, type 6
* Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
* Amyotrophy, monomelic
* Anal cancer
* Anal sphincter dysplasia
* Anaplastic large cell lymphoma
* Anaplastic small cell lymphoma
* Anauxetic dysplasia
* Ancylostoma duodenale
* Andersen Tawil syndrome
* Androgen insensitivity syndrome
* Androgen insensitivity syndrome, partial
* Androgenetic alopecia
* Anemia, Diamond-Blackfan, 2
* Anemia, Diamond-Blackfan, 3
* Anemia, hereditary spherocytic hemolytic
* Anemia, hypochromic microcytic
* Anemia, Hypoplastic, Congenital
* Anemia, Sideroblastic
* Anemia, sideroblastic spinocerebellar ataxia
* Anencephaly
* Anencephaly and spina bifida X-linked
* Aneuploidy
* Aneurysm of sinus of Valsalva
* Aneurysm, intracranial berry, 2
* Aneurysmal bone cysts
* Angel shaped phalangoepiphyseal dysplasia
* Angelman syndrome
* Angiofollicular ganglionic hyperplasia
* Angiofollicular lymph hyperplasia
* Angioimmunoblastic with dysproteinemia lymphadenopathy
* Angiokeratoma mental retardation coarse face
* Angioma hereditary neurocutaneous
* Angioma serpiginosum, autosomal dominant
* Angioma serpiginosum, X-linked
* Angiomatosis encephalotrigeminal
* Angiomatosis leptomeningeal capillary - venous
* Angiomatosis systemic cystic Seip syndrome
* Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
* Angiomyomatous Hamartoma
* Angiosarcoma of the breast
* Angiosarcoma of the liver
* Angiosarcoma of the scalp
* Angiostrongyliasis
* Angiotensin renin aldosterone hypertension
* Anguillulosis
* Aniridia
* Aniridia absent patella
* Aniridia ataxia renal agenesis psychomotor retardation
* Aniridia cerebellar ataxia mental deficiency
* Aniridia mental retardation syndrome
* Aniridia ptosis mental retardation obesity familial
* Aniridia renal agenesis psychomotor retardation
* Aniridia, sporadic
* Aniridia, type 2
* Anisakiasis
* Ankle defects short stature
* Ankyloblepharon filiforme adnatum cleft palate
* Ankyloblepharon filiforme imperforate anus
* Ankyloglossia heterochromia clasped thumbs
* Ankylosing spondylarthritis
* Ankylosis of teeth
* Ankylostomiasis
* Annular constricting bands
* Annular pancreas
* Annuloaortic ectasia
* Anodontia
* Anonychia congenita
* Anonychia ectrodactyly
* Anonychia microcephaly
* Anonychia onychodystrophy
* Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
* Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Anophthalmia cleft lip palate hypothalamic disorder
* Anophthalmia cleft palate micrognathia
* Anophthalmia esophageal atresia cryptorchidism
* Anophthalmia megalocornea cardiopathy skeletal anomalies
* Anophthalmia microcephaly hypogonadism
* Anophthalmia plus syndrome
* Anophthalmia short stature obesity
* Anophthalmia with pulmonary hypoplasia
* Anophthalmos with limb anomalies
* Anorchia
* Anorectal atresia
* Anotia
* Anotia facial palsy cardiac defect
* Ansell Bywaters Elderking syndrome
* Anterior horn disease
* Anterior pituitary insufficiency, familial
* Anterior polar cataract 2
* Anterior segment mesenchymal dysgenesis
* Anterior spinal artery stroke
* Anthrax
* Anti-factor 8 autoimmunization
* Antigen-peptide-transporter 2 deficiency
* Anti-HLA hyperimmunization
* Antihypertensive drugs antenatal infection
* Antiphospholipid syndrome
* Anti-plasmin deficiency, congenital
* Antisocial personality disorder
* Antisynthetase syndrome
* Antithrombin deficiency type 2
* Antithrombin deficiency, congenital
* Antley-Bixler syndrome
* Anton's syndrome
* Aorta-pulmonary artery fistula
* Aortic aneurysm, familial thoracic 3
* Aortic aneurysm, familial thoracic 4
* Aortic arch anomaly with peculiar facies and mental retardation
* Aortic arch interruption
* Aortic arches defect
* Aortic coarctation
* Aortic dissection lentiginosis
* Aortic supravalvular stenosis
* Aortic valve stenosis
* Aortic valves stenosis of the child
* Aortic window
* Apert like polydactyly syndrome
* Apert syndrome
* Aphakia, congenital primary
* Aphalangia syndactyly microcephaly
* Aphthous stomatitis
* Aplasia cutis autosomal recessive
* Aplasia cutis congenita
* Aplasia cutis congenita dominant
* Aplasia cutis congenita epibulbar dermoids
* Aplasia cutis congenita intestinal lymphangiectasia
* Aplasia cutis congenita of limbs recessive
* Aplasia cutis congenita recessive
* Aplasia cutis myopia
* Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
* Aplastic anemia
* Apo A-I deficiency
* Apolipoprotein C 2I deficiency
* Apparent mineralocorticoid excess
* Apraxia
* Apraxia manual
* Apraxia, oculomotor, Cogan type
* APUDoma
* Arachindonic acid, absence of
* Arachnodactyly ataxia cataract aminoaciduria mental retardation
* Arachnodactyly mental retardation dysmorphism
* Arachnoiditis
* Arakawa syndrome 1
* Arakawa's syndrome 2
* Arbovirosis
* AREDYLD
* Arena syndrome
* Arginase deficiency
* Argininosuccinic aciduria
* Arhinia, choanal atresia, and microphthalmia
* Arima syndrome
* Arnold Stickler Bourne syndrome
* Arnold-Chiari malformation
* Arnold-Chiari malformation, type 1
* Arnold-Chiari malformation, type 2
* Arnold-Chiari malformation, type 3
* Arnold-Chiari malformation, type 4
* Aromatase deficiency
* Aromatic amino acid decarboxylase deficiency
* Arrhinia
* Arrhythmogenic right ventricular dysplasia
* Arroyo Garcia Cimadevilla syndrome
* Arterial calcification of infancy
* Arterial dysplasia
* Arterial tortuosity
* Arthritis short stature deafness
* Arthrogryposis
* Arthrogryposis and ectodermal dysplasia
* Arthrogryposis due to muscular dystrophy
* Arthrogryposis epileptic seizures migrational brain disorder
* Arthrogryposis IUGR thoracic dystrophy
* Arthrogryposis like disorder
* Arthrogryposis multiplex congenita
* Arthrogryposis multiplex congenita CNS calcification
* Arthrogryposis multiplex congenita distal
* Arthrogryposis multiplex congenita neurogenic type
* Arthrogryposis multiplex congenita pulmonary hypoplasia
* Arthrogryposis multiplex congenita type 2B
* Arthrogryposis multiplex congenita whistling face
* Arthrogryposis multiplex congenita, distal type 1
* Arthrogryposis multiplex congenita, distal type 2
* Arthrogryposis multiplex congenita, distal, X-linked
* Arthrogryposis multiplex with deafness, inguinal hernias, and early death
* Arthrogryposis ophthalmoplegia retinopathy
* Arthrogryposis renal dysfunction cholestasis syndrome
* Arthrogryposis spinal muscular atrophy
* Arthrogryposis, distal, type 2b
* Arthrogryposis, distal, type 2E
* Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
* Arthrogryposis-like hand anomaly and sensorineural deafness
* Arthropathy, progressive pseudorheumatoid, of childhood
* Arts syndrome
* Asbestosis
* Ascher's Syndrome
* Asherman's syndrome
* Aspartylglycosaminuria
* Aspergillosis
* Aspergillus niger infection
* Asphyxia neonatorum
* Asrar Facharzt Haque syndrome
* Asternia
* Asternia with Cardiac, Diaphragmatic, and Abdominal defects
* Asthenia
* Astley-Kendall syndrome
* Astrocytoma
* Asymmetric septal hypertrophy
* Ataxia telangiectasia variant V1
* Ataxia with vitamin E deficiency
* Ataxia-deafness syndrome
* Ataxia-Telangiectasia
* Atelosteogenesis type 2
* Atelosteogenesis, type 1
* Athabaskan brainstem dysgenesis
* Athetosis
* Atkin syndrome
* Atlanto-Axial Fusion
* Atransferrinemia
* Atresia of small intestine
* Atrial fibrillation, familial 1
* Atrial myxoma, familial
* Atrial septal defect 2
* Atrioventricular septal defect
* Atrophoderma of Pierini and Pasini
* Atrophodermia vermiculata
* ATR-X syndrome
* Attenuated FAP
* Atypical hemolytic uremic syndrome
* Atypical lipodystrophy
* Atypical mole syndrome
* Atypical mycobacteriosis, familial
* Auditory neuropathy
* Auditory perceptual disorder
* Aughton syndrome
* Auralcephalosyndactyly
* Auriculo-condylar syndrome
* Auriculoosteodysplasia
* Ausems Wittebol-Post Hennekam syndrome
* Autoimmune enteropathy
* Autoimmune hemolytic anemia
* Autoimmune hepatitis
* Autoimmune Inner Ear disease
* Autoimmune lymphoproliferative syndrome
* Autoimmune myocarditis
* Autoimmune oophoritis
* Autoimmune peripheral neuropathy
* Autoimmune polyendocrinopathy syndrome, type 1
* Autoimmune progesterone dermatitis
* Autosomal dominant compelling helio ophthalmic outburst syndrome
* Autosomal dominant partial epilepsy with auditory features
* Autosomal recessive nonsyndromic congenital nuclear cataract
* Avasthey syndrome
* Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
* Axial mesodermal dysplasia spectrum
* Axial osteomalacia
* Axial osteosclerosis
* Ayazi syndrome
B
* Baber's syndrome
* Babesiosis
* Baby rattle pelvic dysplasia
* Bacterial endocarditis
* Bacterial meningitis
* BAER
* Baetz-Greenwalt syndrome
* Bagatelle Cassidy syndrome
* Bahemuka Brown syndrome
* Baker Vinters syndrome
* Baker-Winegrad disease
* Balantidiasis
* Ballard syndrome
* Balo disease
* Balo's concentric sclerosis
* Bamforth syndrome
* BANF acoustic neurinoma
* Bangstad syndrome
* Banki syndrome
* Bannayan-Zonana syndrome
* Banti's syndrome
* Bantu siderosis
* Baraitser Brett Piesowicz syndrome
* Baraitser Rodeck Garner syndrome
* Barakat syndrome
* Barber Say syndrome
* Bardet-Biedl syndrome 1
* Bardet-Biedl syndrome 10
* Bardet-Biedl syndrome 11
* Bardet-Biedl syndrome 12
* Bardet-Biedl syndrome 2
* Bardet-Biedl syndrome 3
* Bardet-Biedl syndrome 4
* Bardet-Biedl syndrome 5
* Bardet-Biedl syndrome 6
* Bardet-Biedl syndrome 7
* Bardet-Biedl syndrome 8
* Bardet-Biedl syndrome 9
* Bare lymphocyte syndrome
* Bare lymphocyte syndrome 2
* Baritosis
* Barnicoat Baraitser syndrome
* Barre Lieou syndrome
* Barth syndrome
* Bartsocas Papa syndrome
* Bartter syndrome, antenatal , type 2
* Bartter syndrome, antenatal type 1
* Bartter syndrome, type 3
* Bartter's syndrome
* Basal cell carcinoma, infundibulocystic
* Basal cell carcinoma, multiple
* Basal cell nevus anodontia abnormal bone mineralization
* Basal ganglia calcification, idiopathic 2
* Basal ganglia disease, biotin-responsive
* Basan syndrome
* Basaran Yilmaz syndrome
* Basedow's coma
* Basilar artery migraines
* Basilar impression primary
* Bassoe syndrome
* Battaglia Neri syndrome
* Batten Turner muscular dystrophy
* Baughman syndrome
* Bazex-Dupre-Christol syndrome
* Bazopoulou Kyrkanidou syndrome
* B-cell lymphomas
* Bd syndrome
* Beardwell syndrome
* Bebe Collodion syndrome
* Becker's muscular dystrophy
* Becker's nevus
* Beckwith-Wiedemann syndrome
* Bednar's tumor
* Beemer Ertbruggen syndrome
* Behcet syndrome
* Behr syndrome
* Behrens Baumann Dust syndrome
* Bejel
* Bellini Chiumello Rinoldi syndrome
* Bell's palsy
* Ben Ari Shuper Mimouni syndrome
* Benallegue Lacete syndrome
* Bencze syndrome
* Benign angiitis of the central nervous system
* Benign astrocytoma
* Benign autosomal dominant myopathy
* Benign congenital hypotonia
* Benign essential blepharospasm
* Benign essential tremor syndrome
* Benign familial hematuria
* Benign familial infantile epilepsy
* Benign familial neonatal-infantile seizures
* Benign lymphoma
* Benign mucosal pemphigoid
* Benign paroxysmal positional vertigo
* Bentham Driessen Hanveld syndrome
* Berger disease
* Beriberi
* Berk-Tabatznik syndrome
* Berlin Breakage syndrome
* Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
* Berylliosis
* Best vitelliform macular dystrophy
* Beta ketothiolase deficiency
* Beta-galactosidase-1 deficiency
* Beta-sarcoglycanopathy
* Beta-thalassemia
* Bethlem myopathy
* Bhaskar Jagannathan syndrome
* Bidirectional tachycardia
* Biemond syndrome
* Biemond syndrome type 1
* Biemond syndrome type 2
* Biermer disease
* Bietti's crystalline dystrophy
* Bifid nose
* Bilateral renal agenesis dominant type
* Bile acid synthesis defect, congenital, 1
* Bile acid synthesis defect, congenital, 2
* Bile acid synthesis defect, congenital, 4
* Bile duct cancer, extrahepatic
* Bile duct cysts
* Biliary atresia
* Biliary atresia, extrahepatic
* Biliary atresia, intrahepatic, non syndromic form
* Biliary atresia, intrahepatic, syndromic form
* Biliary cirrhosis
* Biliary hypoplasia
* Biliary malformation renal tubular insufficiency
* Biliary tract cancer
* Bilirubin induced brain injury in the newborn
* Billet Bear syndrome
* Binswanger's disease
* Biotinidase deficiency
* Bird headed dwarfism Montreal type
* Birdshot chorioretinopathy
* Birt-Hogg-Dube syndrome
* Bixler Christian Gorlin syndrome
* Bjornstad syndrome
* Bladder neoplasm
* Blaichman syndrome
* Blastoma
* Blastomycosis
* Blepharo facio skeletal syndrome
* Blepharo naso facial syndrome Van maldergem type
* Blepharophimosis
* Blepharophimosis nasal groove growth retardation
* Blepharophimosis ptosis esotropia syndactyly short
* Blepharophimosis syndrome Ohdo type
* Blepharophimosis syndrome type 1
* Blepharophimosis syndrome type 2
* Blepharophimosis with ptosis, syndactyly, and short stature
* Blepharoptosis aortic anomaly
* Blepharoptosis cleft palate ectrodactyly dental anomalies
* Blepharoptosis myopia ectopia lentis
* Blepharospasm
* Blethen Wenick Hawkins syndrome
* Blood coagulation disorders, inherited
* Bloom syndrome
* Blount disease
* Blue cone monochromatism
* Blue diaper syndrome
* Blue rubber bleb nevus
* Bobble-head doll syndrome
* BOD syndrome
* Boerhaave syndrome
* Bone dysplasia Azouz type
* Bone dysplasia corpus callosum agenesis
* Bone dysplasia lethal Holmgren type
* Bone dysplasia Moore type
* Bone fragility craniosynostosis proptosis hydrocephalus
* Bone marrow failure neurologic abnormalities
* Bone Marrow failure syndromes
* Bone neoplasms
* Bonneau-Beaumont syndrome
* Bonneman Meinecke Reich syndrome
* Bonnemann Meinecke syndrome
* Book syndrome
* Boomerang dysplasia
* Bor-Duane hydrocephalus contiguous gene syndrome
* Borjeson-Forssman-Lehmann syndrome
* Bork Stender Schmidt syndrome
* Borreliosis
* Borrone Di Rocco Crovato syndrome
* Boscherini Galasso Manca Bitti syndrome
* Bosma Henkin Christiansen syndrome
* Bothriocephalosis
* Botulism
* Boucher Neuhauser syndrome
* Boudhina Yedes Khiari syndrome
* Bourneville syndrome
* Bourneville syndrome, type 1
* Bourneville syndrome, type 2
* Bowen syndrome
* Bowen-Conradi syndrome
* Bowenoid papulosis
* Bowen's disease
* Bowing congenital short bones
* Bowing of legs, anterior, with dwarfism
* Bowing of long bones congenital
* Boylan Dew Greco syndrome
* Brachioskeletogenital syndrome
* Brachman-de Lange syndrome
* Brachycephalofrontonasal dysplasia
* Brachydactylous dwarfism Mseleni type
* Brachydactyly absence of distal phalanges
* Brachydactyly anonychia
* Brachydactyly clinodactyly
* Brachydactyly dwarfism mental retardation
* Brachydactyly elbow wrist dysplasia
* Brachydactyly long thumb type
* Brachydactyly mesomelia mental retardation heart defects
* Brachydactyly nystagmus cerebellar ataxia
* Brachydactyly preaxial with hallux varus and thumb abduction
* Brachydactyly scoliosis carpal fusion
* Brachydactyly small stature face anomalies
* Brachydactyly Smorgasbord type
* Brachydactyly tibial hypoplasia
* Brachydactyly type a1
* Brachydactyly type A2
* Brachydactyly type A3
* Brachydactyly type A5 nail dysplasia
* Brachydactyly type A6
* Brachydactyly type a7
* Brachydactyly type B
* Brachydactyly type C
* Brachydactyly type E
* Brachydactyly types B and E combined
* Brachydactyly with hypertension
* Brachymesomelia renal syndrome
* Brachymesophalangy 2 and 5
* Brachymesophalangy type 2
* Brachymetapody anodontia hypotrichosis albinoidism
* Brachymorphism onychodysplasia dysphalangism syndrome
* Brachyolmia
* Brachyolmia, recessive Hobaek type
* Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
* Brachytelephalangy characteristic facies Kallmann
* Braddock Jones Superneau syndrome
* Bradykinesia
* Brain Stem neoplasms
* Brain tumor, adult
* Branchial arch defects
* Branchial arch syndrome X-linked
* Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
* Branchio oculo facial syndrome Hing type
* Branchio-oculo-facial syndrome
* Branchiootic syndrome
* Branchiootorenal syndrome 1
* Branchiootorenal syndrome 2
* Brenner tumor of ovary
* Brenner tumor of the vagina
* Bright’s Disease
* Brittle bone syndrome lethal type
* Broad beta disease
* Broad-betalipoproteinemia
* Brody myopathy
* Bronchiectasis oligospermia
* Bronchiolitis obliterans organizing pneumonia
* Bronchiolitis obliterans with obstructive pulmonary disease
* Bronchogenic cyst
* Bronchopulmonary amyloidosis
* Bronchopulmonary dysplasia
* Brown syndrome
* Brown-Sequard syndrome
* Brown-Vialetto-Van laere syndrome
* Brucellosis
* Bruck syndrome 1
* Bruck syndrome, 2
* Brugada syndrome
* Brunoni syndrome
* Bruton type agammaglobulinemia
* Bruyn Scheltens syndrome
* Budd-Chiari syndrome
* Buerger's disease
* Bulbospinal amyotrophy, X-linked
* Bull Nixon syndrome
* Bullous dystrophy macular type
* Bullous erythroderma ichthyosiformis congenita of Brocq
* Bullous pemphigoid
* Buntinx Lormans Martin syndrome
* Burkitt's lymphoma
* Burn Goodship syndrome
* Burnett Schwartz Berberian syndrome
* Burning mouth syndrome
* Burning mouth syndrome- Type 3
* Burn-Mckeown syndrome
* Buruli ulcer
* Buschke Lowenstein Tumor
* Buschke Ollendorff syndrome
* Bustos Simosa Pinto Cisternas syndrome
* Buttiens Fryns syndrome
* Butyrylcholinesterase deficiency
* Byssinosis
Reply With Quote
Bookmarks