Rare Disease Directory A - C
- 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 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 patella
- Absent T lymphocytes
- Abuse dwarfism syndrome
- Acalvaria
- Acanthamoeba infection
- Acanthocheilonemiasis
- Acanthocytosis
- 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
- Achromatopsia 1
- Achromatopsia 2
- Achromatopsia 3
- Achromatopsia incomplete, X-linked
- Acidemia, isovaleric
- Acinic cell carcinoma
- Acitretin embryopathy
- Ackerman syndrome
- Acoustic neuroma
- Acquired agranulocytosis
- Acquired amegakaryocytic thrombocytopenia
- Acquired angioedema
- Acquired fructose intolerance
- Acquired hemophilia
- 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 1, Nager type
- Acrofacial dysostosis ambiguous genitalia
- Acrofacial dysostosis atypical postaxial
- Acrofacial dysostosis Catania form
- Acrofacial dysostosis Preis type
- Acrofacial dysostosis Rodriguez 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
- Acute lymphoblastic leukemia congenital sporadic aniridia
- Acute lymphoblastic leukemia, Childhood
- 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 myeloid leukemia, adult
- Acute myeloid leukemia, childhood
- 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 cancer
- 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, familial
- Aerobic actinomyces infection
- Afibrinogenemia
- Agammaglobulinemia X-linked type 2
- Agammaglobulinemia, microcephaly, and severe dermatitis
- Agammaglobulinemia, non-Bruton type
- Aganglionosis, total intestinal
- AGAT deficiency
- 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, 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 congenita keratosis palmoplantaris
- Alopecia contractures dwarfism mental retardation
- Alopecia epilepsy oligophrenia syndrome of Moynahan
- 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
- Alpha 1-antitrypsin deficiency
- Alpha mannosidosis type 2
- Alpha-2 deficient collagen disease
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-mannosidosis type 1
- 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 3
- Alzheimer disease type 4
- Alzheimer disease, familial
- Alzheimer's disease without Neurofibrillary tangles
- Amastia
- Amaurosis congenita of Leber
- Amaurosis congenita of Leber, type 2
- Amaurosis congenita of Leber, type 5
- 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
- Amyotrophy, neurogenic scapuloperoneal, New England type
- Anal cancer
- Anal sphincter dysplasia
- Anaplastic large cell lymphoma
- Anaplastic small cell lymphoma
- Anauxetic dysplasia
- Ancylostoma duodenale
- 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 or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies
- Anophthalmia plus syndrome
- Anophthalmia short stature obesity
- Anophthalmia with pulmonary hypoplasia
- Anophthalmos with limb anomalies
- Anorchia
- Anorectal atresia
- 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
- Aquagenic pruritus
- Arachindonic acid, absence of
- Arachnodactyly ataxia cataract aminoaciduria mental retardation
- Arachnodactyly mental retardation dysmorphism
- Arachnoid cyst
- 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 and ectodermal dysplasia
- Arthrogryposis due to muscular dystrophy
- Arthrogryposis epileptic seizures migrational brain disorder
- Arthrogryposis IUGR thoracic dystrophy
- Arthrogryposis like disorder
- Arthrogryposis multiplex congenita (AMC)
- 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
- 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
- Autism with port-wine stain
- 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 cerebellar ataxia with cabc1/adck3 gene mutations
- Autosomal recessive nonsyndromic congenital nuclear cataract
- Autosomal recessive polycystic kidney disease (ARPKD)
- Avasthey syndrome
- Axenfeld Rieger syndrome
- Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
- Axial mesodermal dysplasia spectrum
- Axial osteomalacia
- Axial osteosclerosis
- Ayazi syndrome
- Babesiosis
- Baby rattle pelvic dysplasia
- Bacterial endocarditis
- Bacterial meningitis
- BAER
- Baetz-Greenwalt syndrome
- Bagatelle Cassidy syndrome
- Bahemuka Brown syndrome
- Baker Vinters syndrome
- 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 Rimoldi 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 eccrine spiradenoma
- Benign essential blepharospasm
- Benign essential tremor syndrome
- Benign familial hematuria
- Benign familial infantile epilepsy
- Benign familial neonatal-infantile seizures
- Benign hyperphenylalaninemia
- Benign lymphoma
- Benign mucosal pemphigoid
- Benign paroxysmal positional vertigo
- Benign rolandic epilepsy (BRE)
- 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
- Best1 retinopathy
- 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
- Birk Barel mental retardation dysmorphism syndrome
- Birt-Hogg-Dube syndrome
- Bixler Christian Gorlin syndrome
- Bjornstad syndrome
- BK-virus nephropathy
- Bladder cancer childhood
- 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
- Blinding trachoma
- 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 cancer
- Bone dysplasia Azouz type
- Bone dysplasia corpus callosum agenesis
- Bone dysplasia lethal Holmgren type
- Bone dysplasia Moore type
- Bone fragility craniosynostosis proptosis hydrocephalus
- 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 type 1, Hobaek type
- Brachyolmia type 1, Toledo type
- Brachyolmia type 2
- Brachyolmia type 3
- Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- Brachytelephalangy characteristic facies Kallmann
- Braddock Jones Superneau syndrome
- Bradykinesia
- Brain stem cancer
- Brain stem glioma, childhood
- Brain tumor, adult
- Brain tumor, childhood
- 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
- Breast cancer, childhood
- Breast cancer, male
- Brenner tumor of ovary
- Brenner tumor of the vagina
- Brittle bone syndrome lethal type
- Broad beta disease
- Broad-betalipoproteinemia
- Brody disease
- Bronchial adenomas/carcinoids, childhood
- 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
- Brugada syndrome 3
- Brugada syndrome 4
- Brunoni syndrome
- Brunsting-Perry 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
- CACH syndrome
- CADASIL
- Cafe au lait spots, multiple
- Caffey disease
- CAHMR syndrome
- Calabro syndrome
- Calcifying Epithelial Odontogenic Tumor
- Calciphylaxis
- Calloso-genital dysplasia
- Calvarial hyperostosis
- Camera Marugo Cohen syndrome
- CAMFAK syndrome
- Campomelia Cumming type
- Campomelic syndrome
- Camptobrachydactyly
- Camptocormism
- Camptodactyly arthropathy coxa vara pericarditis syndrome
- Camptodactyly joint contractures and facial skeletal dysplasia
- Camptodactyly syndrome Guadalajara type 1
- Camptodactyly syndrome Guadalajara type 2
- Camptodactyly taurinuria
- Camptodactyly vertebral fusion
- Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
- Camptodactyly, tall stature, and hearing loss syndrome
- Camptodactyly-ichthyosis syndrome
- Camptomelic syndrome long limb type
- Camurati Engelmann disease, type 2
- Camurati-Engelmann disease
- Canavan disease
- Candidiasis familial chronic mucocutaneous, autosomal recessive
- CANOMAD syndrome
- Cantalamessa Baldini Ambrosi syndrome
- Cantu Sanchez-Corona Fragoso syndrome
- Cantu Sanchez-Corona Garcia-cruz syndrome
- Cantu Sanchez-Corona Hernandez syndrome
- Cantu syndrome
- Capillary leak syndrome with monoclonal gammopathy
- Capillary venous leptomeningeal angiomatosis
- Carbamoyl phosphate synthase 1 deficiency
- Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
- Carbon baby syndrome
- Carcinoid syndrome
- Carcinoid tumor
- Carcinoid Tumor, Childhood
- Carcinoma of the vocal tract
- Carcinoma of unknown primary site, childhood
- Carcinoma, squamous cell
- Carcinoma, squamous cell of head and neck
- Cardiac and laterality defects
- Cardiac conduction defect, familial
- Cardiac diverticulum
- Cardiac hydatid cysts with intracavitary expansion
- Cardiac rupture
- Cardiac valvular dysplasia, X-linked
- Cardioauditory syndrome of Sanchez Cascos
- Cardiocranial syndrome
- Cardiofacial syndrome short limbs
- Cardiofaciocutaneous syndrome
- Cardiogenital syndrome
- Cardiomelic syndrome Stratton Koehler type
- Cardiomyopathy cataract hip spine disease
- Cardiomyopathy diabetes deafness
- Cardiomyopathy dilated with conduction defect type 1
- Cardiomyopathy dilated with conduction defect type 2
- Cardiomyopathy dilated with Woolly hair and keratoderma
- Cardiomyopathy due to anthracyclines
- Cardiomyopathy hearing loss type t RNA lysine gene mutation
- Cardiomyopathy hypogonadism collagenoma syndrome
- Cardiomyopathy hypogonadism metabolic anomalies
- Cardiomyopathy spherocytosis
- Cardiomyopathy, familial dilated
- Cardiomyopathy, fatal fetal, due to myocardial calcification
- Cardiomyopathy, infantile histiocytoid
- Cardiomyopathy, X-linked, fatal infantile
- Cardioskeletal myopathy-neutropenia
- Cardiospasm
- Carnevale Canun Mendoza syndrome
- Carnevale Hernandez Castillo syndrome
- Carnevale syndrome
- Carney syndrome
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyl transferase 2 deficiency
- Carnitine palmitoyltransferase I deficiency , muscle
- Carnitine transporter deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinase deficiency
- Carnosinemia
- Caroli disease
- Carpal deformity migrognathia microstomia
- Carpenter Hunter type
- Carpenter syndrome
- Carpo tarsal osteolysis recessive
- Carpotarsal osteochondromatosis
- Carrington syndrome
- Cartilage hair hypoplasia like syndrome
- Cartilage-hair hypoplasia
- Cartilaginous cancer
- Cartwright Nelson Fryns syndrome
- Caspase-8 deficiency
- Cassavism
- Castleman's disease
- Castro Gago Pombo Novo syndrome
- Cat Eye syndrome
- Cat Rodrigues syndrome
- Cat Scratch Disease
- Catamenial pneumothorax
- Cataplexy
- Cataract and cardiomyopathy
- Cataract and congenital ichthyosis
- Cataract anterior polar dominant
- Cataract ataxia deafness
- Cataract congenital autosomal dominant
- Cataract congenital dominant non nuclear
- Cataract congenital Volkmann type
- Cataract dental syndrome
- Cataract Hutterite type
- Cataract hypertrichosis mental retardation
- Cataract mental retardation hypogonadism
- Cataract microcornea syndrome
- Cataract microphthalmia septal defect
- Cataract skeletal anomalies
- Cataract, alopecia, sclerodactyly
- Cataract, autosomal recessive congenital 2
- Cataract, congenital, with microcornea or slight microphthalmia
- Cataract, congenital, with microphthalmia
- Cataract, microphthalmia and nystagmus
- Cataract, posterior polar, 1
- Cataract, posterior polar, 5
- Cataract, total congenital
- Cataract, zonular
- Cataract,posterior polar, 3
- Cataract,posterior polar, 4
- Cataract-glaucoma
- Cataracts, ataxia, short stature, and mental retardation
- Catastrophic Antiphospholipid Syndrome
- Catatrichy
- Catecholamine hypertension
- Catel Manzke syndrome
- Caudal appendage deafness
- Caudal duplication
- Caudal regression syndrome
- Cavernous lymphangioma
- Cayler cardiofacial syndrome
- CCA syndrome
- Ccge syndrome
- CD3 deficiency
- CD4 deficiency
- CDG syndrome type 1A
- CDG syndrome type 1B
- CDG syndrome type 1C
- CDG syndrome type 2
- CDG syndrome type 3
- CDG syndrome type 4
- CDK4 linked melanoma
- Cecato De lima Pinheiro syndrome
- Celiac disease epilepsy occipital calcifications
- Cennamo Gangemi syndrome
- Central core disease
- Central nervous system lymphoma, primary
- Central nervous system protozoal infections
- Central pontine myelinolysis
- Central serous chorioretinopathy
- Centromeric instability immunodeficiency syndrome
- Centronuclear myopathy, congenital
- Centrotemporal epilepsy
- Cephalopolysyndactyly
- Ceramide trihexosidosis
- Cercarial Dermatitis
- Cerebellar agenesis
- Cerebellar astrocytoma, childhood
- Cerebellar ataxia
- Cerebellar ataxia ectodermal dysplasia
- Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
- Cerebellar ataxia, dominant pure
- Cerebellar degeneration
- Cerebellar degeneration, subacute
- Cerebellar hypoplasia
- Cerebellar hypoplasia tapetoretinal degeneration
- Cerebellar hypoplasia with endosteal sclerosis
- Cerebellar parenchymal degeneration
- Cerebelloolivary atrophy
- Cerebelloparenchymal disorder 3
- Cerebellum agenesis hydrocephaly
- Cerebral aneurysm
- Cerebral astrocytoma, adult
- Cerebral astrocytoma, childhood
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral calcification cerebellar hypoplasia
- Cerebral calcifications opalescent teeth phosphaturia
- Cerebral cavernous hemangioma
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- Cerebral gigantism jaw cysts
- Cerebral palsy, ataxic
- Cerebral palsy, athetoid
- Cerebral palsy, mixed
- Cerebral palsy, spastic, diplegic
- Cerebral palsy, spastic, hemiplegic
- Cerebral palsy, spastic, monoplegic
- Cerebral palsy, spastic, quadriplegic
- Cerebral sarcoma
- Cerebral ventricle cancer
- Cerebro facio thoracic dysplasia
- Cerebro oculo dento auriculo skeletal syndrome
- Cerebro oculo genital syndrome
- Cerebro oculo skeleto renal syndrome
- Cerebro reno digital syndrome
- Cerebro-costo-mandibular syndrome
- Cerebrocostomandibular-like syndrome
- Cerebro-oculo-facio-skeletal syndrome
- Cerebrospinal fluid leak
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis, neuronal 1
- Ceroid lipofuscinosis, neuronal 10
- Ceroid lipofuscinosis, neuronal 2
- Ceroid lipofuscinosis, neuronal 4
- Ceroid lipofuscinosis, neuronal 5
- Ceroid lipofuscinosis, neuronal 6, late infantile
- Ceroid lipofuscinosis, neuronal 8
- Ceroid lipofuscinosis, neuronal 9
- Ceroid lipofuscinosis, neuronal, infantile
- Ceroid storage disease
- Cerulean cataract
- Cervical hypertrichosis neuropathy
- Cervical hypertrichosis peripheral neuropathy
- Cervical intraepithelial neoplasia
- Cervical ribs sprengel anomaly anal atresia urethral obstruction
- Cervicooculoacoustic syndrome
- Chagas disease
- Chalazion
- Chancroid
- Chandler's syndrome
- CHANDS
- Chang Davidson Carlson syndrome
- Chaotic atrial tachycardia
- Char syndrome
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease deafness recessive type
- Charcot-Marie-Tooth disease dominant intermediate 1
- Charcot-Marie-Tooth disease dominant intermediate 2
- Charcot-Marie-Tooth disease dominant intermediate 3
- Charcot-Marie-Tooth disease neuronal type A
- Charcot-Marie-Tooth disease neuronal type B
- Charcot-Marie-Tooth disease neuronal type D
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1C
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2A
- Charcot-Marie-Tooth disease type 2B
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2C
- Charcot-Marie-Tooth disease type 2D
- Charcot-Marie-Tooth disease type 2E
- Charcot-Marie-Tooth disease type 2F
- Charcot-Marie-Tooth disease type 2G
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 2I
- Charcot-Marie-Tooth disease type 2J
- Charcot-Marie-Tooth disease type 2K
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease with ptosis and parkinsonism
- Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
- Charcot-Marie-Tooth disease X-linked 1
- Charcot-Marie-Tooth disease X-linked recessive 2
- Charcot-Marie-Tooth disease X-linked recessive 3
- Charcot-Marie-Tooth type 1 aplasia cutis congenita
- CHARGE syndrome
- Charlie M syndrome
- Chavany-Brunhes syndrome
- Chediak-Higashi syndrome
- Cheilitis glandularis
- Chemke Oliver Mallek syndrome
- Cherubism
- Chester porphyria
- Chiari-Frommel syndrome
- Chikungunya
- CHILD syndrome ichthyosis
- Childhood disintegrative disorder
- Childhood medulloblastoma
- Childhood-onset cerebral X-linked adrenoleukodystrophy
- Childhood-Onset Schizophrenia
- Chitayat Haj Chahine syndrome
- Chitayat Meunier Hodgkinson syndrome
- Chitayat Moore Del Bigio syndrome
- Chitty Hall Baraitser syndrome
- Chitty Hall Webb syndrome
- Choanal atresia deafness cardiac defects dysmorphia
- Cholecystitis
- Choledochal cyst, hand malformation
- Cholemia, familial
- Cholera
- Cholestasis
- Cholestasis pigmentary retinopathy cleft palate
- Cholestasis, benign recurrent intrahepatic 1
- Cholestasis, benign recurrent intrahepatic 2
- Cholestasis, intrahepatic of pregnancy
- Cholestasis, progressive familial intrahepatic 1
- Cholestasis, progressive familial intrahepatic 2
- Cholestasis, progressive familial intrahepatic 3
- Cholestasis, progressive familial intrahepatic 4
- Cholestatic jaundice renal tubular insufficiency
- Cholesteatoma
- Cholesterol esterification disorder
- Cholesterol pneumonia
- Chondroblastoma (benign)
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrocalcinosis due to Apatite crystal deposition
- Chondrodysplasia
- Chondrodysplasia lethal recessive
- Chondrodysplasia pseudohermaphrodism syndrome
- Chondrodysplasia punctata
- Chondrodysplasia punctata with steroid sulfatase deficiency
- Chondrodysplasia punctata, brachytelephalangic
- Chondrodysplasia punctata, humero-metacarpal type
- Chondrodysplasia punctata, Sheffield type
- Chondrodysplasia situs inversus imperforate anus polydactyly
- Chondrodysplasia, acromesomelic, with genital anomalies
- Chondrodysplasia, blomstrand type
- Chondrodysplasia, Grebe type
- Chondrodystrophy
- Chondroectodermal dysplasia
- Chondroma (benign)
- Chondromalacia
- Chondromatosis (benign)
- Chondrosarcoma
- Chordoma
- Chorea familial benign
- Chorea minor
- Chorea, remitting with nystagmus and cataracts
- Choreoacanthocytosis
- Choreoacanthocytosis amyotrophic
- Choriocarcinoma
- Chorioretinal atrophy, progressive bifocal
- Chorioretinitis
- Chorioretinopathy dominant form microcephaly
- Choroid plexus calcification with mental retardation
- Choroid Plexus cancer
- Choroid plexus cyst
- Choroidal dystrophy central areolar
- Choroideremia
- Choroideremia hypopituitarism
- Choroiditis
- Choroiditis, serpiginous
- Christian Demyer Franken syndrome
- Christian Johnson Angenieta syndrome
- Christian syndrome
- Chromomycosis
- Chromophil renal cell carcinoma
- Chromophobe renal cell carcinoma
- Chromosomal triplication
- Chromosome 1, deletion q21 q25
- Chromosome 1, duplication 1p21 p32
- Chromosome 1, monosomy 1p
- Chromosome 1, monosomy 1p22 p13
- Chromosome 1, monosomy 1p31 p22
- Chromosome 1, monosomy 1p32
- Chromosome 1, monosomy 1p34 p32
- Chromosome 1, monosomy 1q25 q32
- Chromosome 1, monosomy 1q32 q42
- Chromosome 1, monosomy 1q4
- Chromosome 1, q42 11 q42 12 duplication
- Chromosome 1, ring
- Chromosome 1, trisomy 1q32 qter
- Chromosome 1, trisomy 1q42 qter
- Chromosome 1, uniparental disomy 1q12 q21
- Chromosome 10, distal trisomy 10q
- Chromosome 10, monosomy 10p
- Chromosome 10, monosomy 10q
- Chromosome 10, ring
- Chromosome 10, trisomy 10p
- Chromosome 10, trisomy 10pter p13
- Chromosome 10, uniparental disomy of
- Chromosome 10p terminal deletion syndrome
- Chromosome 11, deletion 11p
- Chromosome 11, partial trisomy 11q
- Chromosome 11;14 translocation
- Chromosome 11p, partial deletion
- Chromosome 11q partial deletion
- Chromosome 11q trisomy
- Chromosome 12, 12p trisomy
- Chromosome 12, ring
- Chromosome 12, trisomy 12q
- Chromosome 12p deletion
- Chromosome 12p partial deletion
- Chromosome 13, partial monosomy 13q
- Chromosome 13, ring
- Chromosome 13p duplication
- Chromosome 13q deletion
- Chromosome 13q trisomy
- Chromosome 13q-mosaicism
- Chromosome 14 deletion
- Chromosome 14 trisomy
- Chromosome 14, deletion 14q, partial duplication 14p
- Chromosome 14, ring
- Chromosome 14, trisomy mosaic
- Chromosome 14;16 translocation
- Chromosome 14q, partial deletions
- Chromosome 14q, proximal duplication
- Chromosome 14q, terminal deletion
- Chromosome 14q, terminal duplication
- Chromosome 15 ring
- Chromosome 15, distal trisomy 15q
- Chromosome 15, trisomy mosaicism
- Chromosome 15q duplication mosaicism
- Chromosome 15q, partial deletion
- Chromosome 15q, tetrasomy
- Chromosome 15q, trisomy
- Chromosome 16, trisomy
- Chromosome 16, trisomy 16p
- Chromosome 16, uniparental disomy
- Chromosome 16q, trisomy
- Chromosome 17, trisomy
- Chromosome 17, deletion
- Chromosome 17, deletion 17q23 q24
- Chromosome 17, duplication
- Chromosome 17, ring
- Chromosome 17, trisomy 17p
- Chromosome 17, trisomy 17p11 2
- Chromosome 17, trisomy 17q22
- Chromosome 18 deletion syndrome
- Chromosome 18 mosaic monosomy
- Chromosome 18, deletion 18q23
- Chromosome 18, ring
- Chromosome 18, tetrasomy 18p
- Chromosome 18, trisomy 18p
- Chromosome 18, trisomy 18q
- Chromosome 18p deletion syndrome
- Chromosome 19 ring syndrome
- Chromosome 19, ring
- Chromosome 19, trisomy 19q
- Chromosome 1p36 deletion syndrome
- Chromosome 1q deletion
- Chromosome 1q, duplication 1q12 q21
- Chromosome 2, monosomy 2p22
- Chromosome 2, monosomy 2pter p24
- Chromosome 2, monosomy 2q
- Chromosome 2, monosomy 2q24
- Chromosome 2, monosomy 2q37
- Chromosome 2, trisomy 2p
- Chromosome 2, trisomy 2p13 p21
- Chromosome 2, trisomy 2pter p24
- Chromosome 2, trisomy 2q
- Chromosome 2, trisomy 2q37
- Chromosome 20 ring
- Chromosome 20, deletion 20p
- Chromosome 20, duplication 20p
- Chromosome 20, trisomy
- Chromosome 21 monosomy
- Chromosome 21 ring
- Chromosome 21, monosomy 21q22
- Chromosome 21, tetrasomy 21q
- Chromosome 21, uniparental disomy of
- Chromosome 22 ring
- Chromosome 22 trisomy mosaic
- Chromosome 22, microdeletion 22 q11
- Chromosome 22, monosome mosaic
- Chromosome 22, trisomy
- Chromosome 22, trisomy q11 q13
- Chromosome 22q deletion
- Chromosome 2q37 deletion syndrome
- Chromosome 3 duplication syndrome
- Chromosome 3, monosomy 3p
- Chromosome 3, monosomy 3p14 p11
- Chromosome 3, monosomy 3p2
- Chromosome 3, monosomy 3p25
- Chromosome 3, monosomy 3q13
- Chromosome 3, monosomy 3q21 23
- Chromosome 3, monosomy 3q27
- Chromosome 3, trisomy 3p
- Chromosome 3, trisomy 3p25
- Chromosome 3, trisomy 3q
- Chromosome 3, trisomy 3q13 2 q25
- Chromosome 3, Trisomy 3q2
- Chromosome 3q29 microduplication syndrome
- Chromosome 4 ring syndrome
- Chromosome 4 short arm deletion
- Chromosome 4, monosomy 4p14 p16
- Chromosome 4, monosomy 4q
- Chromosome 4, monosomy 4q32
- Chromosome 4, monosomy distal 4q
- Chromosome 4, partial trisomy distal 4q
- Chromosome 4, Trisomy 4p
- Chromosome 4, trisomy 4q
- Chromosome 4, trisomy 4q21
- Chromosome 4, trisomy 4q25 qter
- Chromosome 5, monosomy 5q35
- Chromosome 5, trisomy 5p
- Chromosome 5, trisomy 5pter p13 3
- Chromosome 5, trisomy 5q
- Chromosome 5, uniparental disomy
- Chromosome 6 ring syndrome
- Chromosome 6, deletion 6q13 q15
- Chromosome 6, monosomy 6p23
- Chromosome 6, monosomy 6q
- Chromosome 6, monosomy 6q1
- Chromosome 6, monosomy 6q2
- Chromosome 6, partial trisomy 6q
- Chromosome 6, trisomy 6p
- Chromosome 6, trisomy 6q
- Chromosome 7 ring syndrome
- Chromosome 7, monosomy
- Chromosome 7, monosomy 7q2
- Chromosome 7, monosomy 7q21
- Chromosome 7, monosomy 7q3
- Chromosome 7, partial monosomy 7p
- Chromosome 7, trisomy 7p
- Chromosome 7, trisomy 7p13 p12 2
- Chromosome 7, trisomy 7q
- Chromosome 7, trisomy mosaic
- Chromosome 8 deletion
- Chromosome 8 ring
- Chromosome 8, monosomy 8p
- Chromosome 8, monosomy 8p2
- Chromosome 8, monosomy 8p23 1
- Chromosome 8, monosomy 8q
- Chromosome 8, mosaic trisomy
- Chromosome 8, partial trisomy
- Chromosome 8, trisomy
- Chromosome 8, trisomy 8p
- Chromosome 8, trisomy 8q
- Chromosome 9 inversion or duplication
- Chromosome 9 Ring
- Chromosome 9, duplication 9q21
- Chromosome 9, monosomy 9p
- Chromosome 9, partial monosomy 9p
- Chromosome 9, partial trisomy 9p
- Chromosome 9, tetrasomy 9p
- Chromosome 9, trisomy
- Chromosome 9, trisomy 9p
- Chromosome 9, trisomy 9q
- Chromosome 9, trisomy 9q32
- Chromosome 9, trisomy mosaic
- Chromosome 9q deletion syndrome
- Chromosome 9q duplication
- Chromosomes 1 and 2, monosomy 2q duplication 1p
- Chronic berylliosis
- Chronic demyelinizing neuropathy with IgM monoclonal
- Chronic erosive gastritis
- Chronic granulomatous disease
- Chronic hiccup
- Chronic inflammatory demyelinating polyneuropathy
- Chronic lymphocytic leukemia
- Chronic myelogenous leukemia
- Chronic myelomonocytic leukemia
- Chronic Myeloproliferative Disorders
- Chronic necrotizing vasculitis
- Chronic neutropenia
- Chronic polyradiculoneuritis
- Chronic recurrent multifocal osteomyelitis
- Chronic, Infantile, Neurological, Cutaneous, Articular syndrome
- Chudley Rozdilsky syndrome
- Chudley-Mccullough syndrome
- Churg-Strauss syndrome
- Chylomicron retention disease
- Chylothorax, congenital
- Chylous ascites
- Cicatricial pemphigoid
- Ciguatera fish poisoning
- Ciliary discoordination, due to random ciliary orientation
- Ciliary dyskinesia, due to transposition of ciliary microtubules
- Ciliary dyskinesia-bronchiectasis
- Cilliers Beighton syndrome
- Circumscribed cutaneous aplasia of the vertex
- Circumscribed disseminated keratosis Jadassohn Lew type
- Citrulline transport defect
- Clark-Baraitser syndrome
- Classic citrullinemia
- Classic Kaposi sarcoma
- Clayton-Smith Donnai syndrome
- Clear cell renal cell carcinoma
- Cleft hand absent tibia
- Cleft lip and palate malrotation cardiopathy
- Cleft lip and/or palate with mucous cysts of lower
- Cleft lip palate abnormal thumbs microcephaly
- Cleft lip palate deafness sacral lipoma
- Cleft lip palate dysmorphism Kumar type
- Cleft lip palate ectrodactyly
- Cleft lip palate incisor and finger anomalies
- Cleft lip palate mental retardation corneal opacity
- Cleft lip palate oligodontia syndactyly pili torti
- Cleft lip palate pituitary deficiency
- Cleft lip palate-tetraphocomelia
- Cleft lower lip cleft lateral canthi chorioretinal
- Cleft palate cardiac defect ectrodactyly
- Cleft palate colobomata radial synostosis deafness
- Cleft palate heart disease polydactyly absent tibia
- Cleft palate lateral synechia syndrome
- Cleft palate short stature vertebral anomalies
- Cleft palate stapes fixation oligodontia
- Cleft palate X-linked
- Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
- Cleft tongue syndrome
- Cleft upper lip median cutaneous polyps
- Cleidocranial dysplasia
- Cleidorhizomelic syndrome
- C-like syndrome
- Cloacal exstrophy
- Clostridium sordellii
- Cloverleaf skull micromelia thoracic dysplasia
- Cluttering
- CMV antenatal infection
- COACH syndrome
- Coal worker's pneumoconiosis
- Coarctation of aorta dominant
- Coarse face hypotonia constipation
- Coats disease
- Cocaine antenatal infection
- Cocaine fetopathy
- Coccidioidomycosis
- Coccygodynia
- Cochleosaccular degeneration of the inner ear and progressive cataracts
- Cockayne syndrome type A
- Cockayne syndrome type B
- Cockayne syndrome type C
- Cockayne's syndrome
- CODAS syndrome
- Coenzyme Q cytochrome c reductase deficiency of
- Coenzyme Q10 deficiency
- Coffin syndrome 1
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COFS syndrome
- Cogan-Reese syndrome
- Cogan's syndrome
- Cohen Hayden syndrome
- Cohen Lockood Wyborney syndrome
- Cohen syndrome
- Cold agglutination syndrome
- Cold agglutinin disease
- Cold contact urticaria
- Cole Carpenter syndrome
- Coleman Randall syndrome
- Collagenopathy, type 2 alpha 1
- Collagenous colitis
- Collecting duct carcinoma
- Collins Pope syndrome
- Collins Sakati syndrome
- Colloid cysts of third ventricle
- Coloboma chorioretinal cerebellar vermis aplasia
- Coloboma hair abnormality
- Coloboma of Alar-nasal cartilages with telecanthus
- Coloboma of choroid and retina
- Coloboma of eye lens
- Coloboma of iris
- Coloboma of lens ala nasi
- Coloboma of macula
- Coloboma of macula type B brachydactyly
- Coloboma of optic nerve
- Coloboma of optic papilla
- Coloboma porencephaly hydronephrosis
- Coloboma, cleft lip/palate and mental retardation syndrome
- Colobomata unilobar lung heart defect
- Colobomatous microphthalmia heart disease hearing
- Colonic atresia
- Colonic malakoplakia
- Colorectal Cancer, Childhood
- Colorectal cancer, hereditary nonpolyposis, type 1
- Colpocephaly
- Colver Steer Godman syndrome
- Combarros Calleja Leno syndrome
- Combined hyperlipidemia, familial
- Common mesentery
- Common variable immunodeficiency
- Compartment syndrome
- Complement component 2 deficiency
- Complement component deficiency
- Complement component receptor 1
- Complement receptor deficiency
- Complete atrioventricular canal
- Complex 1 mitochondrial respiratory chain deficiency
- Complex 2 mitochondrial respiratory chain deficiency
- Complex 3 mitochondrial respiratory chain deficiency
- Complex 4 mitochondrial respiratory chain deficiency
- Complex 5 mitochondrial respiratory chain deficiency
- Conductive deafness malformed external ear
- Conductive hearing loss
- Condyloma
- Condyloma acuminatum
- Cone dystrophy
- Cone dystrophy, x-linked, with tapetal-like sheen
- Cone rod dystrophy
- Cone rod dystrophy amelogenesis imperfecta
- Congenital absence of the sternocleidomastoid muscle
- Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
- Congenital adrenal hyperplasia type 2
- Congenital afibrinogenemia
- Congenital alopecia X-linked
- Congenital amegakaryocytic thrombocytopenia
- Congenital amputation
- Congenital aneurysms of the great vessels
- Congenital anosmia
- Congenital antithrombin 3 deficiency
- Congenital aplastic anemia
- Congenital arteriovenous shunt
- Congenital articular rigidity
- Congenital benign spinal muscular atrophy dominant
- Congenital bilateral aplasia of vas deferens
- Congenital bronchobiliary fistula
- Congenital cardiovascular malformations
- Congenital cardiovascular shunt
- Congenital central hypoventilation syndrome
- Congenital chloride diarrhea
- Congenital contractural arachnodactyly
- Congenital contractures
- Congenital craniosynostosis maternal hyperthyroiditis
- Congenital cystic eye multiple ocular and intracranial anomalies
- Congenital cytomegalovirus
- Congenital deafness
- Congenital diaphragmatic hernia
- Congenital dislocation of the patella
- Congenital disorder of glycosylation type 1A
- Congenital disorder of glycosylation type 1B
- Congenital disorder of glycosylation type 1C
- Congenital disorder of glycosylation type 1D
- Congenital disorder of glycosylation type 1E
- Congenital disorder of glycosylation type 1F
- Congenital disorder of glycosylation type 1G
- Congenital disorder of glycosylation type 1H
- Congenital disorder of glycosylation type 1I
- Congenital disorder of glycosylation type 1J
- Congenital disorder of glycosylation type 1K
- Congenital disorder of glycosylation type 1L
- Congenital disorder of glycosylation type 1X
- Congenital disorder of glycosylation type 2A
- Congenital disorder of glycosylation type 2D
- Congenital disorder of glycosylation type 2E
- Congenital disorder of glycosylation, type 2C
- Congenital disorder of glycosylation, type 2G
- Congenital ectodermal dysplasia with hearing loss
- Congenital fiber type disproportion
- Congenital generalized fibromatosis
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 2
- Congenital giant megaureter
- Congenital heart block
- Congenital heart disease ptosis hypodontia craniostosis
- Congenital heart disease radio ulnar synostosis mental retardation
- Congenital heart septum defect
- Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
- Congenital hemolytic anemia
- Congenital hepatic fibrosis
- Congenital herpes simplex
- Congenital human immunodeficiency virus
- Congenital hypomyelination neuropathy
- Congenital hypothyroidism
- Congenital hypotrichosis milia
- Congenital ichthyosis, microcephalus, quadriplegia
- Congenital ichtyosiform erythroderma
- Congenital megacolon
- Congenital megalo-ureter
- Congenital mesoblastic nephroma
- Congenital microvillous atrophy
- Congenital mitral malformation
- Congenital mitral stenosis
- Congenital mixovirus
- Congenital mumps
- Congenital Muscular dystrophy
- Congenital muscular dystrophy syringomyelia
- Congenital myasthenic syndrome with episodic apnea
- Congenital myotonic dystrophy
- Congenital nephrotic syndrome, Finnish type
- Congenital nonhemolytic jaundice
- Congenital pseudoarthrosis
- Congenital short bowel
- Congenital short femur
- Congenital spherocytic anemia
- Congenital spherocytic hemolytic anemia
- Congenital stenosis of cervical medullary canal
- Congenital sucrose isomaltose malabsorption
- Congenital thrombotic disease, due to Protein C deficiency
- Congenital torticollis
- Congenital unilateral pulmonary hypoplasia
- Congenital vagal hyperreflexivity
- Congenital varicella syndrome
- Congenitally corrected transposition of the great arteries
- Conjunctivitis ligneous
- Conjunctivitis with Pseudomembrane
- Connective tissue dysplasia Spellacy type
- Connexin 26 anomaly
- Conn's syndrome
- Conorenal Syndrome
- Conotruncal anomaly face syndrome
- Conotruncal heart malformations
- Conradi-Hunermann syndrome
- Constrictive bronchiolitis
- Continuous muscle fiber activity hereditary
- Continuous spike-wave during slow sleep syndrome
- Contractures ectodermal dysplasia cleft lip palate
- Conversion disorder
- Convulsions benign familial neonatal dominant form
- Convulsions, benign familial infantile, 1
- Copper deficiency, familial benign
- Coproporphyria
- CoQ-responsive OXPHOS deficiency
- Cor biloculare
- Cor triatriatum
- Cormier Rustin Munnich syndrome
- Cornea guttata with anterior polar cataract
- Corneal anesthesia deafness mental retardation
- Corneal cerebellar syndrome
- Corneal crystals myopathy neuropathy
- Corneal dystrophy
- Corneal dystrophy and perceptive deafness
- Corneal dystrophy Avellino type
- Corneal dystrophy crystalline of Schnyder
- Corneal dystrophy Fuchs' endothelial 1
- Corneal dystrophy ichthyosis microcephaly mental retardation
- Corneal dystrophy of Bowman layer type 1
- Corneal dystrophy pigmentary anomaly malabsorption
- Corneal dystrophy Thiel Behnke type
- Corneal dystrophy, epithelial basement membrane
- Corneal dystrophy, Fuchs' endothelial, 2
- Corneal dystrophy, gelatinous drop-like
- Corneal dystrophy, juvenile epithelial of Meesmann
- Corneal dystrophy, lattice, type 2
- Corneal endothelial dystrophy type 2
- Corneal hypesthesia, familial
- Cornelia de Lange syndrome 1
- Cornelia de Lange syndrome 2
- Cornelia de Lange syndrome 3
- Corneodermatoosseous syndrome
- Coronal synostosis, syndactyly and jejunal atresia
- Coronaro-cardiac fistula
- Coronary arteries congenital malformation
- Coronary artery aneurysm
- Corpus callosum agenesis
- Corpus callosum agenesis double urinary collecting
- Corpus callosum agenesis neuronopathy
- Corpus callosum agenesis of blepharophimosis Robin type
- Corpus callosum agenesis polysyndactyly
- Corpus callosum dysgenesis cleft spasm
- Corpus callosum dysgenesis hypopituitarism
- Corpus callosum dysgenesis X-linked recessive
- Corsello Opitz syndrome
- Cortada Koussef Matsumoto syndrome
- Cortes Lacassie syndrome
- Cortical blindness mental retardation polydactyly
- Cortical defects, wormian bones, and dentinogenesis imperfecta
- Cortical hyperostosis syndactyly
- Corticobasal degeneration
- Cortisone reductase deficiency
- Costello syndrome
- Costocoracoid ligament congenitally short
- Cote Katsantoni syndrome
- Cousin Walbraum Cegarra syndrome
- Covesdem syndrome
- Cowchock syndrome
- Cowden's disease
- Coxa vara, congenital
- Coxoauricular syndrome
- Cramer Niederdellmann syndrome
- Cramp-fasciculations syndrome
- Crandall syndrome
- Crane-Heise syndrome
- Cranio osteoarthropathy
- Cranioacrofacial syndrome
- Craniodiaphyseal dysplasia
- Craniodigital syndrome mental retardation
- Cranioectodermal dysplasia
- Craniofacial and skeletal defects
- Craniofacial deafness hand syndrome
- Craniofacial dysostosis arthrogryposis progeroid appearence
- Craniofacial dysostosis type 1
- Craniofacial dyssynostosis
- Craniofaciocardioskeletal syndrome
- Craniofaciocervical osteoglyphic dysplasia
- Craniofrontonasal dysplasia
- Craniofrontonasal syndrome Teebi type
- Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia, autosomal recessive type
- Craniomicromelic syndrome
- Craniostenosis cataract
- Craniostenosis with congenital heart disease mental retardation
- Craniosynostosis
- Craniosynostosis alopecia brain defect
- Craniosynostosis arthrogryposis cleft palate
- Craniosynostosis autosomal dominant
- Craniosynostosis cleft lip palate arthrogryposis
- Craniosynostosis contractures cleft
- Craniosynostosis exostoses nevus epibulbar dermoid
- Craniosynostosis fibular aplasia
- Craniosynostosis Fontaine type
- Craniosynostosis Maroteaux Fonfria type
- Craniosynostosis mental retardation clefting syndrome
- Craniosynostosis mental retardation heart defects
- Craniosynostosis Philadelphia type
- Craniosynostosis radial aplasia syndrome
- Craniosynostosis synostoses hypertensive nephropathy
- Craniosynostosis Warman type
- Craniosynostosis, anal anomalies, and porokeratosis
- Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
- Craniosynostosis-mental retardation syndrome of Lin and Gettig
- Craniotelencephalic dysplasia
- Crawfurd syndrome
- Creatine deficiency, X-linked
- Creeping disease
- CREST syndrome
- Cretinism
- Cretinism athyreotic
- Creutzfeldt-Jakob disease
- Cri du chat syndrome
- Crigler Najjar syndrome, type 1
- Crigler Najjar syndrome, type 2
- Crisponi syndrome
- Crohn’s disease, pediatric
- Crohn's disease of the esophagus
- Crome syndrome
- Cronkhite-Canada disease
- Crossed polydactyly type 1
- Crossed polysyndactyly
- Crumpled helices and small mouth
- Cryofibrinogenemia
- Cryptococcosis
- Cryptogenic organized pneumopathy
- Cryptomicrotia brachydactyly syndrome
- Cryptorchidism arachnodactyly mental retardation
- Cryptosporidiosis
- Crystal deposit disease
- Culler Jones syndrome
- Curly hair ankyloblepharon nail dysplasia syndrome
- Curly hair-acral keratoderma-caries syndrome
- Currarino triad
- Curry Hall syndrome
- Curtis Rogers Stevenson syndrome
- Cushing syndrome, familial
- Cushing's symphalangism
- Cutaneous anthrax
- Cutaneous larva migrans
- Cutaneous lupus erythematosus
- Cutaneous photosensitivity and colitis, lethal
- Cutaneous T-cell lymphoma
- Cutaneous vascularitis
- Cutis Gyrata syndrome of Beare and Stevenson
- Cutis gyratum acanthosis nigricans craniosynostosis
- Cutis laxa
- Cutis laxa corneal clouding mental retardation
- Cutis laxa osteoporosis
- Cutis laxa with joint laxity and retarded development
- Cutis laxa, dominant type
- Cutis laxa, recessive
- Cutis laxa, recessive type 2
- Cutis marmorata telangiectatica congenita
- Cutis verticis gyrata
- Cutis verticis gyrata mental deficiency
- Cutler Bass Romshe syndrome
- Cyclic neutropenia
- Cyclic vomiting syndrome
- Cyclosporiasis
- Cyclosporosis
- Cyprus facial neuromusculoskeletal syndrome
- Cystic adenomatoid malformation of lung
- Cystic fibrosis
- Cystic fibrosis gastritis megaloblastic anemia
- Cystic hamartoma of lung and kidney
- Cystic hygroma
- Cystic hygroma lethal cleft palate
- Cystic medial necrosis of aorta
- Cysticercosis
- Cystin transport, protein defect of
- Cystinosis
- Cystinosis, ocular nonnephropathic
- Cystinuria
- Cystinuria-lysinuria
- Cystosarcoma phyllodes
- Cytochrome C oxidase deficiency
- Cytokine deficiency
- Cytokine receptor deficiency
- Cytomegalic inclusion disease
- Cytomegalovirus
- Cytomegalovirus retinitis
- Cytoplasmic body myopathy
- Czech dysplasia, metatarsal type
- Czeizel Losonci syndrome
- Czeizel syndrome
UA Chapters
Northwestern U
Niemann-Pick Type C
Univ. of Maryland
Cystic Fibrosis
U of Notre Dame
Osteosarcoma
U of Wisconsin–Madison
Leigh's Disease
Boston College
Duchenne muscular dystrophy
Coastal Carolina U
TBD
N. Carolina St. U
Leukemia
Colgate Univ.
Ependymoma
Univ. of Illinois
Acoustic Neuroma
Univ. of Arizona
TBD
Fordham Univ.
Extrarenal Rhabdoid Tumor
Kent St. Univ.
TBD
Saint Francis U
Apraxia
Univ. of Nebraska
Pediatric Brain Cancer
Penn St. Univ.
Kidney Cancer
Ohio St. Univ.
CMT
Princeton Univ.
Aplastic Anemia
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Uplifting Athletes News
Friday, May 03, 2013
Uplifting Athletes Blog
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
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2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
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Colgate Raiders break Life For Life record for dollars raised
April 23, 2013
We held our seventh annual Lift for Life last Wednesday in the Sanford Field House. The event was a huge success and I a…