User talk:Anandks007/Med

This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp

Please note that this list is neither definitive or complete. For a far larger list of diseases, including many other rare diseases, see List of diseases.

A

 * Aagenaes syndrome
 * Aarskog Ose Pande syndrome
 * Aarskog syndrome
 * Aase Smith syndrome
 * Aase syndrome
 * ABCD syndrome
 * Abdallat Davis Farrage syndrome
 * Abdominal aortic aneurysm
 * Abdominal cystic lymphangioma
 * Abdominal defects
 * Abdominal musculature absent microphthalmia joint laxity
 * Abdominal neoplasms
 * Aberrant subclavian artery
 * Ablepharon macrostomia syndrome
 * Ablutophobia
 * Abnormal systemic venous return
 * Abruzzo Erickson syndrome
 * Absence of Gluteal muscle
 * Absence of tibia with polydactyly
 * Absent corpus callosum cataract immunodeficiency
 * Absent T lymphocytes
 * Acalvaria
 * Acanthocheilonemiasis
 * Acanthocytosis chorea
 * Acanthocytosis
 * Acanthosis nigricans muscle cramps acral enlargement
 * Acarophobia
 * Acatalasemia
 * Accessory deep peroneal nerve
 * Accessory Navicular bone
 * Accessory pancreas
 * Achalasia alacrimia syndrome
 * Achalasia microcephaly
 * Achalasia, familial esophageal
 * Achalasia
 * Achalasia-Addisonianism-Alacrimia syndrome
 * Achard syndrome
 * Achard-Thiers syndrome
 * Acheiropodia
 * Achondrogenesis Kozlowski type
 * Achondrogenesis type 1A
 * Achondrogenesis type 1B
 * Achondrogenesis
 * Achondroplasia Swiss type agammaglobulinemia
 * Achondroplasia
 * Achondroplastic dwarfism
 * Achromatopsia incomplete, X-linked
 * Achromatopsia
 * Acid maltase deficiency
 * Acidemia, isovaleric
 * Acidemia, propionic
 * Acitretine antenatal infection
 * Ackerman syndrome
 * Acne rosacea
 * Acoustic neuroma
 * Acoustic schwannomas
 * Acquired agranulocytosis
 * Acquired hypoprothrombinemia
 * Acquired ichthyosis
 * Acquired prothrombin deficiency
 * Acquired syphilis
 * Acral dysostosis dyserythropoiesis
 * Acral renal mandibular syndrome
 * Acro coxo mesomelic dysplasia
 * Acro fronto facio nasal dysostosis
 * Acrocallosal syndrome, Schinzel type
 * Acrocephalopolydactyly
 * Acrocephalosyndactyly Jackson Weiss type
 * Acrocephaly pulmonary stenosis mental retardation
 * Acrodermatitis enteropathica
 * Acrodermatitis
 * Acrodysostosis
 * Acrodysplasia scoliosis
 * Acrofacial dysostosis ambiguous genitalia
 * Acrofacial dysostosis atypical postaxial
 * Acrofacial dysostosis Catania form
 * Acrofacial dysostosis Preis type
 * Acrofacial dysostosis Rodriguez type
 * Acrofacial dysostosis Weyers type
 * Acrofacial dysostosis, Nager type
 * Acrofacial dysostosis, Palagonia type
 * Acrokeratoelastoidosis of Costa
 * Acromegaloid changes cutis verticis gyrata corneal
 * Acromegaloid facial appearance syndrome
 * Acromegaloid hypertrichosis syndrome
 * Acromegaly
 * Acromesomelic dysplasia Brahimi Bacha type
 * Acromesomelic dysplasia Campailla Martinelli type
 * Acromesomelic dysplasia Hunter Thompson type
 * Acromesomelic dysplasia, Maroteaux type
 * Acromesomelic dysplasia
 * Acromicric dysplasia
 * Acroosteolysis dominant type
 * Acroosteolysis neurogenic
 * Acroosteolysis osteoporosis skull and mandible changes
 * Acropectoral syndrome
 * Acropectorenal field defect
 * Acropectorovertebral dysplasia
 * Acrophobia
 * Acropigmentation of Dohi
 * Acrorenal syndrome recessive
 * Acrorenoocular syndrome
 * Acrospiroma
 * ACTH deficiency
 * ACTH resistance
 * Actinomycetales infection
 * Activated protein C resistance
 * Acutane embryopathy
 * Acute articular rheumatism
 * Acute erythroblastic leukemia
 * Acute febrile neutrophilic dermatosis
 * Acute idiopathic polyneuritis
 * Acute intermittent porphyria
 * Acute lymphoblastic leukemia congenital sporadic aniridia
 * Acute lymphoblastic leukemia
 * Acute lymphocytic leukemia
 * 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 (generic term)
 * Acute myeloid leukemia, secondary
 * Acute myelomonocytic leukemia
 * Acute necrotizing ulcerative gingivitis
 * Acute non lymphoblastic leukemia (generic term)
 * Acute posterior multifocal placoid pigment epitheliopathy
 * Acute promyelocytic leukemia
 * Acute renal failure
 * Acyl-CoA dehydrogenase, medium chain, deficiency of
 * Acyl-CoA dehydrogenase, short chain, deficiency of
 * Acyl-CoA dehydrogenase, very long chain, deficiency of
 * Acyl-CoA oxidase deficiency
 * Adactylia unilateral dominant
 * Adam complex familial
 * Adams Nance syndrome
 * Adams-Oliver syndrome
 * Addison's disease
 * Adducted thumb club foot syndrome
 * Adducted thumb syndrome recessive form
 * Adducted thumbs Dundar type
 * Adenine phosphoribosyltransferase deficiency
 * Adenocarcinoid tumor
 * Adenocarcinoma of lung
 * Adenoid cystic carcinoma
 * Adenoma of the adrenal gland
 * Adenoma
 * Adenomelablastoma
 * Adenomyosis
 * Adenosine deaminase deficiency
 * Adenosine monophosphate deaminase deficiency
 * Adenosine triphosphatase deficiency, anemia due to
 * Adenylosuccinate lyase deficiency
 * Adie syndrome
 * Adiposa dolorosa
 * Adolescent benign focal crisis
 * Adrenal adenoma, familial
 * Adrenal cancer
 * Adrenal disorder
 * Adrenal gland hyperfunction
 * Adrenal gland hypofunction
 * Adrenal hyperplasia, congenital
 * Adrenal hyperplasia
 * Adrenal hypertension
 * Adrenal hypoplasia congenital, X-linked
 * Adrenal hypoplasia
 * Adrenal incidentaloma
 * Adrenal insufficiency
 * Adrenal macropolyadenomatosis
 * Adrenal medulla neoplasm
 * Adrenocortical carcinoma
 * Adrenogenital syndrome
 * Adrenoleukodystrophy, autosomal, neonatal form
 * Adrenoleukodystrophy, X-linked
 * Adrenoleukodystrophy
 * Adrenomyodystrophy
 * Adult onset Still's disease
 * Adult spinal muscular atrophy
 * Adult syndrome
 * Aerophobia
 * Afibrinogenemia
 * Aganglionosis, total intestinal
 * Aggressive fibromatosis
 * Agnathia holoprosencephaly situs inversus
 * Agnosia, primary visual
 * Agoraphobia
 * Agrizoophobia
 * Agyria pachygyria polymicrogyria
 * Agyria-pachygyria type 1
 * Agyrophobia
 * Ahumada-Del Castillo syndrome
 * Aicardi syndrome
 * Aicardi-Goutieres syndrome
 * Aichmophobia
 * AIDS Dementia Complex
 * AIDS dysmorphic syndrome
 * Ainhumoid and mutilating keratodermia
 * Akaba Hayasaka syndrome
 * Akesson syndrome
 * Aksu Stckhausen syndrome
 * Al Awadi Teebi Farag syndrome
 * Al Frayh Facharzt Haque syndrome
 * Al Gazali Al Talabani 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-Watson syndrome (AWS)
 * Alar nasal cartilages coloboma of telecanthus
 * Albers-Schonberg disease
 * Albinism deafness syndrome
 * Albinism immunodeficiency
 * Albinism ocular late onset sensorineural deafness
 * Albinism oculocutaneous, Hermansky-Pudlak type
 * Albinism, minimal pigment type
 * Albinism, ocular
 * Albinism, yellow mutant type
 * Albinism
 * Albinoidism
 * Albrecht Schneider Belmont syndrome
 * Albright like syndrome
 * Albright Turner Morgani syndrome
 * Albright's hereditary osteodystrophy
 * Albright's syndrome
 * Albuminurophobia
 * Alcaptonuria
 * Alcohol antenatal infection
 * Alcohol fetopathy
 * Alcoholic hepatitis
 * Alcoholic liver cirrhosis
 * Aldolase A deficiency
 * Aldred syndrome
 * Alektorophobia
 * Aleukemic leukemia cutis
 * Alexander's disease
 * Alkaptonuria
 * Allain Babin Demarquez syndrome
 * Allan Herndon syndrome
 * Allanson Pantzar McLeod syndrome
 * Allergic angiitis
 * Allergic autoimmune thyroiditis
 * Allergic bronchopulmonary aspergillosis
 * Allergic encephalomyelitis
 * Alliumphobia
 * Allodoxaphobia
 * Aloi Tomasini Isaia syndrome
 * Alopecia anosmia deafness hypogonadism 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 onychodystrophy vitiligo
 * Alopecia universalis
 * Alopecia, epilepsy, pyorrhea, mental subnormality
 * Alopecia
 * Alpers disease
 * Alpha 1-antitrypsin deficiency
 * Alpha-2 deficient collagen disease
 * Alpha-ketoglutarate dehydrogenase deficiency
 * Alpha-L-iduronidase deficiency
 * Alpha-mannosidosis
 * Alpha-sarcoglycanopathy
 * Alpha-thalassemia
 * Alpha-thalassemia-abnormal morphogenesis
 * Alport syndrome macrothrombocytopenia
 * Alport syndrome, dominant type
 * Alport syndrome, recessive type
 * Alport syndrome
 * Alstrom's syndrome
 * Alternating hemiplegia of childhood
 * Alternating hemiplegia
 * Aluminium lung
 * Alveolar echinococcosis
 * Alveolar soft part sarcoma
 * Alveolitis, extrinsic allergic
 * Alves Dos Santos Castello syndrome
 * Alzheimer disease, familial
 * Alzheimer's disease
 * Amathophobia
 * Amaurosis congenita of Leber, type 1
 * Amaurosis congenita of Leber, type 2
 * Amaurosis congenita of Leber
 * Amaurosis hypertrichosis
 * Amaxophobia
 * Ambral syndrome
 * Ambras syndrome
 * Ambulophobia
 * Amegakaryocytic thrombocytopenia
 * Amelia cleft lip palate hydrocephalus iris coloboma
 * Amelia facial dysmorphism
 * Amelia X linked
 * Amelogenesis Imperfecta hypomaturation type
 * Amelogenesis imperfecta local hypoplastic form
 * Amelogenesis imperfecta nephrocalcinosis
 * Amelogenesis imperfecta
 * Ameloonychohypohidrotic syndrome
 * Amenorrhea, Primary
 * American trypanosomiasis
 * Aminoacidopathies
 * Aminoaciduria
 * Aminopterin antenatal infection
 * Aminopterin like syndrome without aminopterin
 * Amniotic bands
 * Amoebiasis due to Entamoeba histolytica
 * Amoebiasis due to free-living amoebae
 * Ampola syndrome
 * Amychophobia
 * Amylo-1,6-glucosidase deficiency
 * Amyloid angiopathy
 * Amyloid Neuropathies, Familial
 * Amyloid polyneuropathy, transthyretin related
 * Amyloidosis of gingiva and conjunctiva mental retardation
 * Amyloidosis, Familial
 * Amyloidosis
 * Amylopectinosis
 * Amyoplasia mandibulofacial dysostosis
 * Amyoplasia
 * Amyotonia congenita
 * Amyotrophic lateral sclerosis
 * Anablephobia
 * Anaphylaxis
 * Anaplastic thyroid cancer
 * Andersen's disease
 * Andre syndrome
 * Androgen insensitivity syndrome (AIS)
 * Anemia sideroblastic spinocerebellar ataxia
 * Anemia, Diamond-Blackfan
 * Anemia, Hypoplastic, Congenital
 * Anemia, Pernicious
 * Anemia, Sideroblastic
 * Anemia
 * Anemophobia
 * Anencephaly spina bifida X linked
 * Anencephaly
 * Aneurysm of sinus of Valsalva
 * Aneurysm, intracranial berry
 * Aneurysm
 * Angel shaped phalangoepiphyseal dysplasia
 * Angelman syndrome
 * Angiofollicular ganglionic hyperplasia
 * Angiofollicular lymph hyperplasia
 * Angioimmunoblastic with dysproteinemia lymphadenopathy
 * Angiokeratoma mental retardation coarse face
 * Angiolipoma
 * Angioma hereditary neurocutaneous
 * Angiomatosis encephalotrigeminal
 * Angiomatosis leptomeningeal capillary - venous
 * Angiomatosis systemic cystic Seip syndrome
 * Angiomyomatous Hamartoma
 * Angioneurotic edema hereditary due to C1 esterase deficiency
 * Angiosarcoma of the liver
 * Angiosarcoma of the scalp
 * Angiostrongyliasis
 * Angiotensin renin aldosterone hypertension
 * Anguillulosis
 * 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 type 2
 * Aniridia, sporadic
 * Aniridia
 * Anisakiasis
 * Ankle defects short stature
 * Ankyloblepharon ectodermal defects cleft lip palate
 * Ankyloblepharon filiforme adnatum cleft palate
 * Ankyloblepharon filiforme imperforate anus
 * Ankyloglossia heterochromia clasped thumbs
 * Ankylosing spondylarthritis
 * Ankylosing spondylitis
 * Ankylosing vertebral hyperostosis with tylosis
 * Ankylosis of teeth
 * Ankylostomiasis
 * Annular constricting bands
 * Annular pancreas
 * Annuloaortic ectasia
 * Anodontia
 * Anonychia ectrodactyly
 * Anonychia microcephaly
 * Anonychia onychodystrophy brachydactyly type B
 * Anonychia onychodystrophy
 * Anophthalia pulmonary hypoplasia
 * 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 Waardenburg syndrome
 * Anophthalmos with limb anomalies
 * Anophthalmos, clinical
 * Anorchia
 * Anorchidism
 * Anorectal anomalies
 * Ano-rectal atresia
 * Anorexia nervosa
 * Anosmia
 * Anotia facial palsy cardiac defect
 * Anotia
 * Ansell Bywaters Elderking syndrome
 * Anterior horn disease
 * Anterior pituitary insufficiency, familial
 * Anthophobia
 * Anthrax
 * Anti-factor VIII autoimmunization
 * Antigen-peptide-transporter 2 deficiency
 * Anti-HLA hyperimmunization
 * Antihypertensive drugs antenatal infection
 * Antinolo Nieto Borrego syndrome
 * Antiphospholipid syndrome
 * Anti-plasmin deficiency, congenital
 * Antisocial personality disorder
 * Antisynthetase syndrome
 * Antithrombin deficiency, congenital
 * Antley-Bixler syndrome
 * Antlophobia
 * Anton's syndrome
 * Aorta-pulmonary artery fistula
 * Aortic aneurysm
 * Aortic arch anomaly peculiar facies 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
 * Aphalangia hemivertebrae
 * Aphalangia syndactyly microcephaly
 * Aphthous stomatitis
 * Apiphobia
 * Aplasia cutis autosomal recessive
 * 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 congenita
 * Aplasia cutis myopia
 * Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
 * Aplastic anemia
 * Apo A-I deficiency
 * Apolipoprotein C-II deficiency
 * Apparent mineralocorticoid excess
 * Apraxia manual
 * Apraxia, Ideomotor
 * Apraxia, ocular motor, Cogan type
 * Apraxia
 * Apudoma
 * Aqueductal stenosis, X linked
 * Arachindonic acid, absence of
 * Arachnodactyly ataxia cataract aminoaciduria mental retardation
 * Arachnodactyly mental retardation dysmorphism
 * Arachnoid cysts
 * Arachnoiditis
 * Arakawa'sa syndrome II
 * Arbovirosis
 * Arc syndrome
 * Aredyld syndrome
 * AREDYLD
 * Arginase deficiency
 * Arginemia
 * Argininosuccinate synthetase deficiency
 * Argininosuccinic aciduria
 * Arhinia choanal atresia microphthalmia
 * Arnold Stckler Bourne syndrome
 * Arnold-Chiari malformation
 * Arnold-Chiari syndrome
 * Aromatase deficiency
 * Aromatic amino acid decarboxylase deficiency
 * Arrhinia
 * Arrhythmogenic right ventricular dysplasia
 * Arroyo Garcia Cimadevilla syndrome
 * Arrythmogenic right ventricular dysplasia, familial
 * Arterial calcification of infancy
 * Arterial dysplasia
 * Arterial tortuosity
 * Arteriovenous malformation
 * Arteritis
 * Arthritis short stature deafness
 * Arthritis, Juvenile
 * Arthritis
 * Arthrogryposis due to muscular dystrophy
 * Arthrogryposis ectodermal dysplasia other anomalies
 * Arthrogryposis epileptic seizures migrational brain disorder
 * Arthrogryposis IUGR thoracic dystrophy
 * Arthrogryposis like disorder
 * Arthrogryposis like hand anomaly sensorineural
 * Arthrogryposis multiplex congenita CNS calcification
 * Arthrogryposis multiplex congenita distal
 * Arthrogryposis multiplex congenita neurogenic type
 * Arthrogryposis multiplex congenita pulmonary hypoplasia
 * 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 congenita
 * Arthrogryposis ophthalmoplegia retinopathy
 * Arthrogryposis renal dysfunction cholestasis syndrome
 * Arthrogryposis spinal muscular atrophy
 * Arthrogryposis
 * Arylsulfatase A deficiency
 * Asbestosis
 * Ascher's Syndrome
 * Asherman's syndrome
 * Aspartylglycosaminuria
 * Asperger syndrome
 * Aspergillosis
 * Asphyxia neonatorum
 * Asthenia
 * Asthenophobia
 * Asthma
 * Astrocytoma
 * Asymmetric septal hypertrophy
 * Ataxia telangiectasia variant V1
 * Ataxia telangiectasia
 * Ataxia, Marie's
 * Ataxiophobia
 * Ataxophobia
 * Atelosteogenesis, type II
 * Athabaskan brain stem dysgenesis
 * Athetosis
 * Atopic Dermatitis
 * Atresia of small intestine
 * Atrial myxoma, familial
 * Atrial septal defects
 * Atrioventricular septal defect
 * Atrophoderma of Pierini and Pasini
 * ATR-X
 * Attention Deficit Disorder with Hyperactivity
 * Attenuated FAP
 * Atychiphobia
 * Atypical lipodystrophy
 * Auditory Perceptual Disorder
 * Aughton syndrome
 * Ausems Wittebol Post Hennekam syndrome
 * Autism
 * Autoimmune hemolytic anemia
 * Autoimmune hepatitis
 * Autoimmune peripheral neuropathy
 * Autoimmune polyendocrinopathy syndrome, type I
 * Automysophobia
 * Autonomic dysfunction
 * Autonomic nervous system diseases
 * Axial mesodermal dysplasia spectrum
 * Axial osteomalacia
 * Axial osteosclerosis
 * Ayazi syndrome

B

 * Baber's syndrome
 * Babesiosis
 * Bacterial endocarditis
 * Bacterial food poisoning
 * Bacterial meningitis
 * Bacterial pneumonia
 * BAER
 * Bagatelle Cassidy syndrome
 * Bahemuka Brown syndrome
 * Baker Vinters syndrome
 * Baker-Winegard syndrome
 * Balantidiasis
 * Ballard syndrome
 * Ballistophobia
 * 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
 * Barber Say syndrome
 * Bardet-Biedl syndrome, type 1
 * Bardet-Biedl syndrome, type 2
 * Bardet-Biedl syndrome, type 3
 * Bardet-Biedl syndrome, type 4
 * Bare lymphocyte syndrome 2
 * Bare lymphocyte syndrome
 * Baritosis
 * Barnicoat Baraitser syndrome
 * Barrett syndrome
 * Barrow Fitzsimmons syndrome
 * Barth syndrome
 * Bartonella infections
 * Bartsocas Papa syndrome
 * Bartter syndrome, antenatal form
 * Bartter's disease
 * Basal cell nevus anodontia abnormal bone mineralization
 * Basal ganglia diseases
 * Basan syndrome
 * Basaran Yilmaz syndrome
 * Basedow's coma
 * Basilar artery migraines
 * Basilar impression primary
 * Bassoe syndrome
 * Bathophobia
 * Batrachophobia
 * Battaglia Neri syndrome
 * Batten disease
 * Batten Turner muscular dystrophy
 * Baughman syndrome
 * Bazex-Dupre-Christol syndrome
 * Bazopoulou Kyrkanidou syndrome
 * B-cell lymphomas
 * Bd syndrome
 * Beals syndrome
 * Beardwell syndrome
 * Bébé Collodion syndrome
 * Becker disease
 * Becker's muscular dystrophy
 * Becker's nevus
 * Beemer Ertbruggen syndrome
 * Beemer Langer 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 astrocytoma
 * Benign autosomal dominant myopathy
 * Benign congenital hypotonia
 * Benign essential blepharospasm
 * Benign essential tremor syndrome
 * Benign familial hematuria
 * Benign familial infantile convulsions
 * Benign familial infantile epilepsy
 * Benign lymphoma
 * Benign mucosal pemphigoid
 * Benign paroxysmal positional vertigo
 * Bentham Driessen Hanveld syndrome
 * Berardinelli-Seip congenital lipodystrophy
 * Berdon syndrome
 * Berger disease
 * Berlin Breakage syndrome
 * Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
 * Berylliosis
 * Besnier-Boeck-Schaumann disease
 * Beta ketothiolase deficiency
 * Beta-galactosidase-1 deficiency
 * Beta-mannosidosis
 * Beta-sarcoglycanopathy
 * Beta-thalassemia major anemia
 * Beta-thalassemia
 * Bethlem myopathy
 * Bhaskar Jagannathan syndrome
 * Bibliophobia
 * Bickel Fanconi glycogenosis
 * Bicuspid aortic valve
 * Bidirectional tachycardia
 * Biemond syndrome type 1
 * Biemond syndrome type 2
 * Biemond syndrome
 * Biermer disease
 * Bifid nose dominant
 * Bilateral renal agenesis dominant type
 * Bilateral renal agenesis
 * Biliary atresia, extrahepatic
 * Biliary atresia, intrahepatic, non syndromic form
 * Biliary atresia, intrahepatic, syndromic form
 * Biliary atresia
 * Biliary cirrhosis
 * Biliary hypoplasia
 * Biliary malformation renal tubular insufficiency
 * Biliary tract cancer
 * Billard Toutain Maheut syndrome
 * Billet Bear syndrome
 * Bindewald Ulmer Muller 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 cheilo dontic syndrome
 * Blepharo facio skeletal syndrome
 * Blepharo naso facial syndrome Van maldergem type
 * Blepharonasofacial malformation syndrome
 * Blepharophimosis nasal groove growth retardation
 * Blepharophimosis ptosis esotropia syndactyly short
 * Blepharophimosis ptosis syndactyly mental retardation
 * Blepharophimosis syndrome Ohdo type
 * Blepharophimosis, ptosis, epicanthus inversus
 * Blepharophimosis
 * Blepharoptosis aortic anomaly
 * Blepharoptosis cleft palate ectrodactyly dental anomalies
 * Blepharoptosis myopia ectopia lentis
 * Blepharospasm
 * Blethen Wenick Hawkins syndrome
 * Blomstrand syndrome
 * Blood Coagulation Disorders, Inherited
 * Blood platelet disorders
 * Blood vessel disorder
 * Bloom syndrome
 * Blount disease
 * Blue cone monochromatism
 * Blue diaper syndrome
 * Blue rubber bleb nevus
 * BOD syndrome
 * Boder syndrome
 * Bone development disorder
 * 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
 * Bone neoplasms
 * Bone tumor (generic term)
 * Bonneau-Beaumont syndrome
 * Bonneman Meinecke Reich syndrome
 * Bonnemann Meinecke syndrome
 * Bonnevie Ullrich Turner syndrome
 * Book syndrome
 * Boomerang dysplasia
 * Booth Haworth Dilling syndrome
 * BOR syndrome
 * Borjeson 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, type 1
 * Bourneville syndrome, type 2
 * Bourneville syndrome
 * Bowen syndrome
 * Bowen-Conradi syndrome
 * Bowenoid papulosis
 * Bowen's disease
 * Bowing congenital short bones
 * Bowing of long bones congenital
 * Boylan Dew Greco syndrome
 * Brachioskeletogenital syndrome
 * Brachman-de Lange syndrome
 * Brachycephalofrontonasal dysplasia
 * Brachycephaly deafness cataract mental retardation
 * Brachydactylous dwarfism Mseleni type
 * Brachydactyly absence of distal phalanges
 * Brachydactyly anonychia
 * Brachydactyly clinodactyly
 * Brachydactyly dwarfism mental retardation
 * Brachydactyly elbow wrist dysplasia
 * Brachydactyly hypertension
 * Brachydactyly long thumb type
 * Brachydactyly mesomelia mental retardation heart defects
 * Brachydactyly nystagmus cerebellar ataxia
 * Brachydactyly preaxial hallux varus
 * 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
 * Brachymesomelia renal syndrome
 * Brachymesophalangy 2 and 5
 * Brachymesophalangy mesomelic short limbs osseous anomalies
 * Brachymesophalangy type 2
 * Brachymetapody anodontia hypotrichosis albinoidism
 * Brachymorphism onychodysplasia dysphalangism syndrome
 * Brachyolmia recessive Hobaek type
 * Brachyolmia
 * Brachytelephalangy characteristic facies Kallmann
 * Braddock Carey syndrome
 * Braddock Jones Superneau syndrome
 * Bradykinesia
 * Brain cavernous angioma
 * Brain Neoplasms
 * Brain Stem Neoplasms
 * Branchial arch defects
 * Branchial arch syndrome X linked
 * Branchio oculo facial syndrome Hing type
 * Branchio-oculo-facial syndrome
 * Branchiootorenal syndrome
 * Breast and ovarian cancer
 * Breast cancer, familial
 * Bright's Disease
 * Brittle bone disease
 * Brittle bone syndrome lethal type
 * Brittle cornea syndrome
 * Broad beta disease
 * Broad-betalipoproteinemia
 * Bromidrosiphobia
 * Bronchiectasis oligospermia
 * Bronchiolitis obliterans with obstructive pulmonary disease
 * Bronchiolotis obliterans organizing pneumonia (BOOP)
 * Bronchitis, Chronic
 * Bronchogenic cyst
 * Bronchopulmonary amyloidosis
 * Bronchopulmonary dysplasia
 * Brown syndrome
 * Brown-Sequard syndrome
 * Brucellosis
 * Bruck syndrome
 * Brugada syndrome
 * Brunoni syndrome
 * Bruton type agammaglobulinemia
 * Bruyn Scheltens syndrome
 * Budd-Chiari syndrome
 * Buerger's disease
 * Bulbospinal amyotrophy, X-linked
 * Bulimia nervosa
 * Bull Nixon syndrome
 * Bullous dystrophy macular type
 * Bullous ichtyosiform erythroderma congenita
 * Bullous pemphigoid
 * Buntinx Lormans Martin syndrome
 * Burkitt's lymphoma
 * Burn Goodship syndrome
 * Burnett Schwartz Berberian syndrome
 * Burning mouth syndrome- Type 3
 * Burning mouth syndrome
 * Buschke Ollendorff syndrome
 * Bustos Simosa Pinto Cisternas syndrome
 * Buttiens Fryns syndrome
 * Butyrylcholinesterase deficiency
 * Byssinosis

C

 * C syndrome
 * C1 esterase deficiency, (type 2 with ascites)
 * Cacchi Ricci disease
 * CACH syndrome
 * Cacophobia
 * Cafe au lait spots syndrome
 * Caffey disease
 * CAHMR syndrome
 * Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
 * Calciphylaxis
 * Calculi
 * Calderon Gonzalez Cantu syndrome
 * Calloso genital dysplasia
 * Callus disease
 * Calpainopathy
 * Calvarial hyperostosis
 * Camera Marugo -Cohen syndrome
 * Camfak syndrome
 * Campomelia Cumming type
 * Camptobrachydactyly
 * Camptocormism
 * Camptodactyly fibrous tissue hyperplasia skeletal dysplasia
 * Camptodactyly joint contractures facial skeletal dysplasia
 * Camptodactyly overgrowth unusual facies
 * Camptodactyly syndrome Guadalajara type 1
 * Camptodactyly syndrome Guadalajara type 2
 * Camptodactyly taurinuria
 * Camptodactyly vertebral fusion
 * Camptomelic syndrome
 * Camurati Engelmann disease
 * Canavan leukodystrophy
 * Candidiasis familial chronic
 * Candidiasis
 * Cantalamessa Baldini Ambrosi syndrome
 * Cantu Sanchez Corona Fragoso syndrome
 * Cantu Sanchez Corona Garcia syndrome
 * Cantu Sanchez Corona Hernandes syndrome
 * Capillary leak syndrome with monoclonal gammopathy
 * Capillary venous leptomeningeal angiomatosis
 * Capos syndrome
 * Caratolo Cilio Pessagno syndrome
 * Carbamoyl phosphate synthetase deficiency
 * Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
 * Carbohydrate deficient glycoprotein syndrome
 * Carbon baby syndrome
 * Carbonic anhydrase II deficiency
 * Carcinoid syndrome
 * Carcinoma of the vocal tract
 * Carcinoma, squamous cell of head and neck
 * Carcinoma, squamous cell
 * Carcinophobia
 * Cardiac and laterality defects
 * Cardiac conduction defect, familial
 * Cardiac diverticulum
 * Cardiac hydatid cysts with intracavitary expansion
 * Cardiac malformation
 * Cardiac valvular dysplasia, X-linked
 * Cardioauditory syndrome of Sanchez- Cascos
 * Cardioauditory syndrome
 * Cardiofacial syndrome short limbs
 * Cardio-facio-cutaneous syndrome
 * Cardiogenital syndrome
 * Cardiomelic syndrome Stratton Koehler type
 * Cardiomyopathic lentiginosis
 * Cardiomyopathy cataract hip spine disease
 * Cardiomyopathy diabetes deafness
 * Cardiomyopathy dilated with conduction defect type 1
 * Cardiomyopathy dilated with conduction defect type 2
 * Cardiomyopathy due to anthracyclines
 * Cardiomyopathy hearing loss type t RNA lysine gene mutation
 * Cardiomyopathy hypogonadism metabolic anomalies
 * Cardiomyopathy spherocytosis
 * Cardiomyopathy, familial dilated
 * Cardiomyopathy, familial hypertrophic
 * Cardiomyopathy, fatal fetal, due to myocardial calcification
 * Cardiomyopathy, Hypertrophic, Familial
 * Cardiomyopathy, X linked, fatal infantile
 * Cardiophobia
 * Cardioskeletal myopathy-neutropenia
 * Cardiospasm
 * Carey Fineman Ziter syndrome
 * Carnevale Canun Mendoza syndrome
 * Carnevale Hernandez Castillo syndrome
 * Carnevale Krajewska Fischetto syndrome
 * Carney syndrome
 * Carnitine palmitoyl transferase 1 deficiency
 * Carnitine palmitoyl transferase 2 deficiency
 * Carnitine palmitoyl transferase deficiency
 * Carnitine transporter deficiency
 * Carnitine-acylcarnitine translocase deficiency
 * Carnophobia
 * Carnosinase deficiency
 * Carnosinemia
 * Caroli disease
 * Carpal deformity migrognathia microstomia
 * Carpal tunnel syndrome
 * Carpenter Hunter type
 * Carpenter syndrome
 * Carpo tarsal osteolysis recessive
 * Carpotarsal osteochondromatosis
 * Carrington syndrome
 * Cartilage hair hypoplasia like syndrome
 * Cartilaginous neoplasms
 * Cartwright Nelson Fryns syndrome
 * Cassia Stocco Dos Santos syndrome
 * Castleman's disease
 * Castro Gago Pombo Novo syndrome
 * Cat cry syndrome
 * Cat Eye syndrome
 * Cat Rodrigues syndrome
 * Cat Scratch Disease
 * Catagelophobia
 * Catamenial Pneumothorax
 * Catapedaphobia
 * Cataract ,congenital ichthyosis
 * Cataract aberrant oral frenula growth retardation
 * Cataract anterior polar dominant
 * Cataract ataxia deafness
 * Cataract cardiomyopathy
 * Cataract congenital autosomal dominant
 * Cataract congenital dominant non nuclear
 * Cataract congenital Volkmann type
 * Cataract congenital with microphthalmia
 * 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, congenital, with microcornea or slight microphthalmia
 * Cataract, total congenital
 * Cataract-glaucoma
 * CATCH 22 syndrome
 * Catecholamine hypertension
 * Catel Manzke syndrome
 * Caudal appendage deafness
 * Caudal duplication
 * Caudal regression syndrome
 * Causalgia
 * Cavernous hemangioma
 * Cavernous lymphangioma
 * Cayler syndrome
 * CCA syndrome
 * Ccge syndrome
 * CCHS
 * CDG syndrome type 1A
 * CDG syndrome type 1B
 * CDG syndrome type 1C
 * CDG syndrome type 2
 * CDG syndrome type 3
 * CDG syndrome type 4
 * CDG syndrome
 * CDK4 linked melanoma
 * Cecato De lima Pinheiro syndrome
 * Celiac disease epilepsy occipital calcifications
 * Celiac sprue
 * Cenani Lenz syndactylism
 * Cennamo Gangemi syndrome
 * Central core disease
 * Central diabetes insipidus
 * Central nervous system protozoal infections
 * Central serous chorioretinopathy
 * Central type neurofibromatosis
 * Centromeric instability immunodeficiency syndrome
 * Centronuclear myopathy
 * Centrotemporal epilepsy
 * Cephalopolysyndactyly
 * Ceramidase deficiency
 * Ceramide trihexosidosis
 * Ceraunophobia
 * Cerebellar agenesis
 * Cerebellar ataxia areflexia pes cavus optic atrophy
 * Cerebellar ataxia ectodermal dysplasia
 * Cerebellar ataxia infantile with progressive external ophthalmoplegia
 * Cerebellar ataxia, dominant pure
 * Cerebellar ataxia
 * Cerebellar degeneration, subacute
 * Cerebellar degeneration
 * Cerebellar hypoplasia endosteal sclerosis
 * Cerebellar hypoplasia tapetoretinal degeneration
 * Cerebellar hypoplasia
 * Cerebellar parenchymal degeneration
 * Cerebelloolivary atrophy
 * Cerebelloparenchymal disorder 3
 * Cerebellum agenesis hydrocephaly
 * Cerebral Amyloid Angiopathy, Familial
 * Cerebral amyloid angiopathy
 * Cerebral aneurysm
 * Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
 * Cerebral calcification cerebellar hypoplasia
 * Cerebral calcifications opalescent teeth phosphaturia
 * Cerebral cavernous malformation
 * Cerebral cavernous malformations
 * Cerebral gigantism jaw cysts
 * Cerebral gigantism
 * Cerebral malformations hypertrichosis claw hands
 * Cerebral palsy
 * Cerebral ventricle neoplasm
 * Cerebro facio articular syndrome
 * Cerebro facio thoracic dysplasia
 * Cerebro oculo dento auriculo skeletal syndrome
 * Cerebro oculo genital syndrome
 * Cerebro oculo skeleto renal syndrome
 * Cerebro reno digital syndrome
 * Cerebroarthrodigital syndrome
 * Cerebro-costo-mandibular syndrome
 * Cerebro-oculo-facio-skeletal syndrome
 * Cerebroretinal vasculopathy
 * Ceroid lipofuscinose, neuronal 1, infantile
 * Ceroid lipofuscinose, neuronal 2, late infantile
 * Ceroid lipofuscinose, neuronal 3, juvenile
 * Ceroid lipofuscinose, neuronal 4, adult type
 * Ceroid lipofuscinose, neuronal 5, late infantile,
 * Ceroid lipofuscinose, neuronal 6, late infantile
 * Ceroid lipofuscinose, neuronal
 * Ceroid lipofuscinosis, neuronal 4
 * Cervical cancer
 * Cervical hypertrichosis neuropathy
 * Cervical hypertrichosis peripheral neuropathy
 * Cervical ribs sprengel anomaly polydactyly
 * Cervical vertebral fusion
 * Cervicooculoacoustic syndrome
 * Chagas disease
 * Chalazion
 * Chanarin disease
 * Chanarin Dorfman syndrome ichthyosis
 * Chandler's syndrome
 * Chands syndrome
 * Chang Davidson Carlson syndrome
 * Chaotic atrial tachycardia
 * Char syndrome
 * Charcot disease
 * Charcot Marie tooth disease deafness dominant type
 * Charcot Marie tooth disease deafness mental retardation
 * Charcot Marie Tooth disease deafness recessive type
 * Charcot Marie Tooth type 1 aplasia cutis congenita
 * Charcot-Marie-Tooth disease, X-linked type 2, recessive
 * Charcot-Marie-Tooth disease, X-linked type 3, recessive
 * Charcot-Marie-Tooth disease type 1A
 * Charcot-Marie-Tooth disease type 1B
 * Charcot-Marie-Tooth disease type 1C
 * Charcot-Marie-Tooth disease type 2A
 * 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 4A
 * Charcot-Marie-Tooth disease type 4B
 * Charcot-Marie-Tooth disease with ptosis and parkinsonism
 * Charcot-Marie-Tooth disease, intermediate form
 * 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
 * Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
 * CHARGE Association
 * Charlie M syndrome
 * Chavany-Brunhes syndrome
 * Chediak-Higashi syndrome
 * Cheilitis glandularis
 * Chemke Oliver Mallek syndrome
 * Chemodectoma
 * Chemophobia
 * Chen-Kung Ho Kaufman Mcalister syndrome
 * Cherubism
 * Chiari type 1 malformation
 * Chiari-Frommel syndrome
 * Chikungunya
 * CHILD syndrome ichthyosis
 * Childhood disintegrative disorder
 * Childhood pustular psoriasis
 * Chionophobia
 * Chiraptophobia
 * Chirophobia
 * Chitayat Haj Chahine syndrome
 * Chitayat Meunier Hodgkinson syndrome
 * Chitayat Moore Del Bigio syndrome
 * Chitty Hall Baraitser syndrome
 * Chitty Hall Webb syndrome
 * Chlamydia
 * Chlamydial and Gonococcal Conjunctivitis
 * Choanal atresia deafness cardiac defects dysmorphia
 * Cholangiocarcinoma
 * Cholangitis, primary sclerosing
 * Cholecystitis
 * Choledochal cyst, hand malformation
 * Cholemia, familial
 * Cholera
 * Cholerophobia
 * Cholestasis pigmentary retinopathy cleft palate
 * Cholestasis, progressive familial intrahepatic 1
 * Cholestasis, progressive familial intrahepatic 2
 * Cholestasis, progressive familial intrahepatic 3
 * Cholestasis, progressive familial intrahepatic
 * Cholestasis
 * Cholestatic jaundice renal tubular insufficiency
 * Cholesterol ester storage disease
 * Cholesterol esterification disorder
 * Cholesterol pneumonia
 * Chondroblastoma (benign)
 * Chondrocalcinosis familial articular
 * Chondrocalcinosis
 * Chondrodysplasia lethal recessive
 * Chondrodysplasia pseudohermaphrodism syndrome
 * Chondrodysplasia punctata 1, x-linked recessive
 * Chondrodysplasia punctata with steroid sulfatase deficiency
 * Chondrodysplasia punctata, brachytelephalangic
 * Chondrodysplasia punctata, Sheffield type
 * Chondrodysplasia punctata
 * Chondrodysplasia situs inversus imperforate anus polydactyly
 * Chondrodysplasia, Grebe type
 * Chondrodystrophy
 * Chondroectodermal dysplasia
 * Chondroma (benign)
 * Chondromalacia
 * Chondromatosis (benign)
 * Chondrosarcoma (malignant)
 * Chondrysplasia punctata, humero-metacarpal type
 * Chordoma
 * Chorea acanthocytosis
 * Chorea familial benign
 * Chorea minor
 * Chorea
 * Choreoacanthocytosis amyotrophic
 * Choreoathetosis familial paroxysmal
 * Choriocarcinoma
 * Chorioretinitis
 * Chorioretinopathy dominant form microcephaly
 * Choroid plexus cyst
 * Choroid Plexus neoplasms
 * Choroidal atrophy alopecia
 * Choroideremia hypopituitarism
 * Choroideremia
 * Choroiditis, serpiginous
 * Choroiditis
 * Choroido cerebral calcification syndrome infantile
 * Chorophobia
 * Christian Demyer Franken syndrome
 * Christian Johnson Angenieta syndrome
 * Christian syndrome
 * Christianson Fourie syndrome
 * Christmas disease
 * Chromomycosis
 * Chromophobe renal carcinoma
 * Chromophobia
 * Chromosomal triplication
 * Chromosome 1 ring
 * Chromosome 1, 1p36 deletion syndrome
 * 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, trisomy 1q32 qter
 * Chromosome 1, trisomy 1q42 qter
 * Chromosome 1, uniparental disomy 1q12 q21
 * Chromosome 1q, duplication 1q12 q21
 * Chromosomes 1 and 2, monosomy 2q duplication 1p
 * 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 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 4 ring
 * 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
 * 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
 * Chromosome 7, monosomy 7q2
 * Chromosome 7, monosomy 7q21
 * Chromosome 7, monosomy 7q3
 * Chromosome 7, monosomy
 * 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 8p
 * Chromosome 8, trisomy 8q
 * Chromosome 8, trisomy
 * 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 9q
 * Chromosome 9, trisomy 9q32
 * Chromosome 9, trisomy mosaic
 * Chromosome 9, trisomy
 * Chromosome 10 ring
 * Chromosome 10, distal trisomy 10q
 * Chromosome 10, monosomy 10p
 * Chromosome 10, monosomy 10q
 * Chromosome 10, trisomy 10p
 * Chromosome 10, trisomy 10pter p13
 * Chromosome 10, trisomy 10q
 * 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 ring
 * Chromosome 12, 12p trisomy
 * Chromosome 12, trisomy 12q
 * Chromosome 12p deletion
 * Chromosome 12p partial deletion
 * Chromosome 13 duplication
 * Chromosome 13 ring
 * Chromosome 13, partial monosomy 13q
 * Chromosome 13p duplication
 * Chromosome 13q deletion
 * Chromosome 13q trisomy
 * Chromosome 13q-mosaicism
 * Chromosome 14 ring
 * Chromosome 14 trisomy
 * Chromosome 14, deletion 14q, partial duplication 14p
 * Chromosome 14, trisomy mosaic
 * 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, partial deletion
 * Chromosome 15q, tetrasomy
 * Chromosome 15q, trisomy
 * Chromosome 16, trisomy 16p
 * Chromosome 16, trisomy 16q
 * Chromosome 16, trisomy
 * Chromosome 16, uniparental disomy
 * Chromosome 17 trisomy
 * Chromosome 17 deletion
 * Chromosome 17 ring
 * Chromosome 17, deletion 17q23 q24
 * Chromosome 17, trisomy 17p
 * Chromosome 17, trisomy 17p11 2
 * Chromosome 17, trisomy 17q22
 * Chromosome 18 long arm deletion syndrome
 * Chromosome 18 mosaic monosomy
 * Chromosome 18 ring
 * Chromosome 18, deletion 18q23
 * Chromosome 18, monosomy 18p
 * Chromosome 18, tetrasomy 18p
 * Chromosome 18, trisomy 18p
 * Chromosome 18, trisomy 18q
 * Chromosome 18, trisomy
 * Chromosome 19 ring
 * Chromosome 19, trisomy 19q
 * 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 q11 q13
 * Chromosome 22, trisomy
 * Chronic berylliosis
 * Chronic demyelinizing neuropathy with IgM monoclonal
 * Chronic erosive gastritis
 * Chronic fatigue immune dysfunction syndrome
 * Chronic granulomatous disease
 * Chronic hiccup
 * Chronic inflammatory demyelinating polyneuropathy
 * Chronic lymphocytic leukemia
 * Chronic myelogenous leukemia
 * Chronic myelomonocytic leukemia
 * Chronic necrotizing vasculitis
 * Chronic neutropenia
 * Chronic polyradiculoneuritis
 * Chronic recurrent multifocal osteomyelitis
 * Chronic renal failure
 * Chronic spasmodic dysphonia
 * Chronic, infantile, neurological, cutaneous, articular syndrome
 * Chronomentrophobia
 * Chudley Lowry Hoar syndrome
 * Chudley Rozdilsky syndrome
 * Chudley-Mccullough syndrome
 * Churg-Strauss syndrome
 * 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
 * Citrullinemia
 * Clarkson disease
 * Clayton Smith Donnai syndrome
 * 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 lip with or without cleft palate
 * Cleft lip
 * 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
 * Cleft tongue syndrome
 * Cleft upper lip median cutaneous polyps
 * Clefting ectropion conical teeth
 * Cleidocranial dysplasia micrognathia absent thumbs
 * Cleidocranial dysplasia
 * Cleisiophobia
 * Climacophobia
 * Clinophobia
 * Cloacal exstrophy
 * Clouston syndrome
 * Cloverleaf skull bone dysplasia
 * Cloverleaf skull micromelia thoracic dysplasia
 * Cluster headache
 * CMV antenatal infection
 * Coach syndrome
 * Coal worker's pneumoconiosis
 * Coarctation of aorta dominant
 * Coarse face hypotonia constipation
 * Coats disease
 * Cocaine antenatal infection
 * Cocaine fetopathy
 * Cochin Jewish Disorder
 * Cockayne syndrome type 1
 * Cockayne syndrome type 2
 * Cockayne syndrome type 3
 * Cockayne's syndrome
 * Codas syndrome
 * Coenzyme Q cytochrome c reductase deficiency of
 * Coffin-Lowry syndrome
 * Coffin-Siris syndrome
 * COFS syndrome
 * Cogan-Reese syndrome
 * Cogan's syndrome
 * Cohen Hayden syndrome
 * Cohen Lockood Wyborney syndrome
 * Cohen syndrome
 * Colavita Kozlowski syndrome
 * Cold agglutination syndrome
 * Cold agglutinin disease
 * Cold antibody hemolytic anemia
 * Cold contact urticaria
 * Cold urticaria
 * Cole carpenter syndrome
 * Coleman Randall syndrome
 * Collagen disorder
 * Collagenous colitis
 * Collins Pope syndrome
 * Collins Sakati syndrome
 * Coloboma chorioretinal cerebellar vermis aplasia
 * Coloboma hair abnormality
 * Coloboma of choroid and retina
 * Coloboma of eye lens
 * Coloboma of iris
 * Coloboma of lens ala nasi
 * Coloboma of macula type B brachydactyly
 * Coloboma of macula
 * Coloboma of optic nerve
 * Coloboma of optic papilla
 * Coloboma porencephaly hydronephrosis
 * Coloboma uveal with cleft lip palate and mental retardation
 * Coloboma, ocular
 * Colobomata unilobar lung heart defect
 * Colobomatous microphthalmia heart disease hearing
 * Colobomatous microphthalmia
 * Colon cancer, familial nonpolyposis
 * Colonic atresia
 * Colonic malakoplakia
 * Colorado tick fever
 * Colver Steer Godman syndrome
 * Combarros Calleja Leno syndrome
 * Combined hyperlipidemia, familial
 * Common mesentery
 * Common variable immunodeficiency
 * Compartment syndrome
 * Complement component 2 deficiency
 * Complement component receptor 1
 * 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 acuminatum
 * Condyloma
 * Cone dystrophy
 * Cone rod dystrophy amelogenesis imperfecta
 * Cone rod dystrophy
 * Congenital absence of the uterus and vagina
 * Congenital adrenal hyperplasia type 1
 * Congenital adrenal hyperplasia type 2
 * Congenital adrenal hyperplasia type 3
 * Congenital adrenal hyperplasia type 4
 * Congenital adrenal hyperplasia type 5
 * Congenital adrenal hyperplasia
 * Congenital afibrinogenemia
 * Congenital alopecia X linked
 * Congenital amputation
 * Congenital aneurysms of the great vessels
 * Congenital antithrombin III deficiency
 * Congenital aplastic anemia
 * Congenital arteriovenous shunt
 * Congenital articular rigidity
 * Congenital benign spinal muscular atrophy dominant
 * Congenital brain disorder
 * Congenital bronchobiliary fistula
 * Congenital cardiovascular disorder
 * Congenital cardiovascular malformations
 * Congenital cardiovascular shunt
 * Congenital constricting band
 * Congenital contractual arachnodactyly
 * Congenital contractures
 * Congenital craniosynostosis maternal hyperthyroiditis
 * Congenital cystic adenomatoid malformation
 * Congenital cystic eye multiple ocular and intracranial anomalies
 * Congenital cytomegalovirus
 * Congenital deafness
 * Congenital diaphragmatic hernia
 * Congenital erythropoietic porphyria
 * Congenital facial diplegia
 * Congenital fiber type disproportion
 * Congenital gastrointestinal disorder
 * Congenital generalized fibromatosis
 * Congenital giant megaureter
 * Congenital heart block
 * Congenital heart disease ptosis hypodontia craniostosis
 * Congenital heart disease radio ulnar synostosis mental retardation
 * Congenital heart disorder
 * Congenital heart septum defect
 * Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
 * Congenital hemolytic anemia
 * Congenital hepatic fibrosis
 * Congenital hepatic porphyria
 * Congenital herpes simplex
 * Congenital hypomyelination neuropathy
 * Congenital hypothyroidism
 * Congenital hypotrichosis milia
 * Congenital ichthyosis, microcephalus, quadriplegia
 * Congenital ichthyosis
 * Congenital ichtyosiform erythroderma
 * Congenital kidney disorder
 * Congenital lobar emphysema
 * Congenital megacolon
 * Congenital megalo-ureter
 * Congenital mesoblastic nephroma
 * Congenital microvillous atrophy
 * Congenital mitral malformation
 * Congenital mitral stenosis
 * Congenital mixovirus
 * Congenital mumps
 * Congenital muscular dystrophy syringomyelia
 * Congenital myopathy
 * Congenital nephrotic syndrome, Finnish type
 * Congenital nonhemolytic jaundice
 * Congenital rubella
 * Congenital short bowel
 * Congenital short femur
 * Congenital skeletal disorder
 * Congenital skin disorder
 * Congenital spherocytic anemia
 * Congenital spherocytic hemolytic anemia
 * Congenital stenosis of cervical medullary canal
 * Congenital sucrose isomaltose malabsorption
 * Congenital syphilis
 * Congenital toxoplasmosis
 * Congenital unilateral pulmonary hypoplasia
 * Congenital vagal hyperreflexivity
 * Congenital varicella syndrome
 * Conjunctivitis ligneous
 * Conjunctivitis with Pseudomembrane
 * Conjunctivitis
 * Connective tissue dysplasia Spellacy type
 * Connexin 26 anomaly
 * Conn's syndrome
 * Conotruncal heart malformations
 * Conradi-Hünermann syndrome
 * Constitutional growth delay
 * Constrictive bronchiolitis
 * Continuous muscle fiber activity hereditary
 * Continuous spike-wave during slow sleep syndrome
 * Contractural arachnodactyly
 * Contractures ectodermal dysplasia cleft lip palate
 * Contractures hyperkeratosis lethal
 * Contractures of feet-muscle atrophy-oculomotor apraxia
 * Conversion disorder
 * Convulsions benign familial neonatal dominant form
 * Convulsions benign familial neonatal
 * Cooks syndrome
 * Cooley's anemia
 * Copper deficiency familial benign
 * Copper transport disease
 * Coprastasophobia
 * Coprophobia
 * Coproporhyria
 * Cor biloculare
 * Cor triatriatum
 * Cormier Rustin Munnich syndrome
 * Corneal anesthesia deafness mental retardation
 * Corneal cerebellar syndrome
 * Corneal crystals myopathy neuropathy
 * Corneal dystrophy epithelial short stature
 * Corneal dystrophy ichthyosis microcephaly mental retardation
 * Corneal dystrophy perceptive deafness
 * Corneal dystrophy pigmentary anomaly malabsorption
 * Corneal dystrophy
 * Corneal endothelium dystrophy
 * Cornelia de Lange syndrome
 * Corneodermatoosseous syndrome
 * Coronal synostosis syndactyly jejunal atresia
 * Coronaro-cardiac fistula
 * Coronary arteries congenital malformation
 * Coronary artery aneurysm
 * Corpus callosum agenesis double urinary collecting
 * Corpus callosum agenesis neuronopathy
 * Corpus callosum agenesis of blepharophimosis Robin type
 * Corpus callosum agenesis of with chorioretinal abnormalities
 * Corpus callosum agenesis polysyndactyly
 * Corpus callosum agenesis
 * Corpus callosum dysgenesis cleft spasm
 * Corpus callosum dysgenesis hypopituitarism
 * Corpus callosum dysgenesis X linked recessive
 * Corrected transposition
 * Corsello Opitz syndrome
 * Cortada Koussef Matsumoto syndrome
 * Cortes Lacassie syndrome
 * Cortical blindness mental retardation polydactyly
 * Cortical degeneration of the cerebellum parenchymatous
 * Cortical hyperostosis syndactyly
 * Corticobasal degeneration
 * Costello syndrome
 * Costocoracoid ligament congenitally short
 * Cote Adamopoulos Pantelakis syndrome
 * Cote Katsantoni syndrome
 * Cousin Walbraum Cegarra syndrome
 * Covesdem syndrome
 * Cowchock Wapner Kurtz syndrome
 * Cowden's disease
 * Cowpox
 * 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 osseous defects mental retardation
 * Craniofacial and skeletal defects
 * Craniofacial deafness hand syndrome
 * Craniofacial dysostosis arthrogryposis progeroid appearance
 * Craniofacial dysostosis
 * Craniofacial dysynostosis
 * Craniofaciocardioskeletal syndrome
 * Craniofaciocervical osteoglyphic dysplasia
 * Craniofrontonasal dysplasia
 * Craniofrontonasal syndrome Teebi type
 * Craniometaphyseal dysplasia dominant type
 * Craniometaphyseal dysplasia recessive type
 * Craniomicromelic syndrome
 * Craniostenosis cataract
 * Craniostenosis with congenital heart disease mental retardation
 * Craniostenosis
 * 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, sagittal, with Dandy-Walker malformation and hydrocephalus
 * Craniosynostosis
 * Craniotelencephalic dysplasia
 * Crawfurd syndrome
 * Creatine deficiency
 * Creeping disease
 * CREST syndrome
 * Cretinism athyreotic
 * Cretinism
 * Cri du chat syndrome
 * Crigler Najjar syndrome type I
 * Crisponi syndrome
 * Criss cross syndrome
 * Criswick-Schepens syndrome
 * Crohn's disease of the esophagus
 * Crohn's disease
 * Crome syndrome
 * Cronkhite-Canada disease
 * Crossed polydactyly type 1
 * Crossed polysyndactyly
 * Crow-Fukase syndrome
 * Cryoglobulinemia
 * Cryophobia
 * Cryptococcosis
 * Cryptogenic organized pneumopathy
 * Cryptomicrotia brachydactyly syndrome excess fingers
 * Cryptomicrotia brachydactyly syndrome
 * Cryptophthalmos-syndactyly syndrome
 * Cryptorchidism arachnodactyly mental retardation
 * Cryptosporidiosis
 * Cryroglobulinemia
 * Crystal deposit disease
 * Crystallophobia
 * Culler Jones syndrome
 * Curly hair ankyloblepharon nail dysplasia syndrome
 * Currarino triad
 * Curry Hall syndrome
 * Curth-Macklin type ichthyosis hystrix
 * Curtis Rogers Stevenson syndrome
 * Cushing syndrome, familial
 * Cushing's symphalangism
 * Cushing's syndrome
 * Cutaneous anthrax
 * Cutaneous larva migrans
 * Cutaneous lupus erythematosus
 * Cutaneous photosensitivity colitis lethal
 * Cutaneous T-cell lymphoma
 * Cutaneous vascularitis
 * Cutis Gyrata syndrome of Beare and Stevenson
 * Cutis gyratum acanthosis nigricans craniosynostosis
 * Cutis laxa, recessive
 * Cutis laxa corneal clouding mental retardation
 * Cutis laxa osteoporosis
 * Cutis laxa with joint laxity and retarded development
 * Cutis laxa, dominant type
 * Cutis laxa, recessive type 1
 * Cutis laxa, recessive type 2
 * Cutis laxa
 * Cutis marmorata telangiectatica congenita
 * Cutis verticis gyrata mental deficiency
 * Cutis verticis gyrata thyroid aplasia mental retardation
 * Cutis verticis gyrata
 * Cutler Bass Romshe syndrome
 * Cyclic neutropenia
 * Cyclic vomiting syndrome
 * Cyclosporosis
 * Cypress facial neuromusculoskeletal syndrome
 * Cystathionine beta synthetase deficiency
 * Cystic adenomatoid malformation of lung
 * Cystic angiomatosis of bone, diffuse
 * Cystic fibrosis gastritis megaloblastic anemia
 * Cystic fibrosis
 * Cystic hamartoma of lung and kidney
 * Cystic hygroma lethal cleft palate
 * Cystic hygroma
 * Cystic medial necrosis of aorta
 * Cystin transport, protein defect of
 * Cystinosis
 * Cystinuria
 * Cystinuria-lysinuria
 * Cytochrome C oxidase deficiency
 * Cytomegalic inclusion disease
 * Cytomegalovirus
 * Cytoplasmic body myopathy
 * Czeizel Losonci syndrome
 * Czeizel syndrome

D

 * D ercole syndrome
 * Daentl Towsend Siegel syndrome
 * Dahlberg Borer Newcomer syndrome
 * Daish Hardman Lamont syndrome
 * Dandy Walker facial hemangioma
 * Dandy Walker malformation postaxial polydactyly
 * Dandy Walker syndrome recessive form
 * Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
 * Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
 * Dandy-Walker syndrome
 * Daneman Davy Mancer syndrome
 * Darier's disease
 * Davenport Donlan syndrome
 * David syndrome
 * Davis Lafer syndrome
 * De Barsy syndrome
 * De Hauwere Leroy Adriaenssens syndrome
 * De Sanctis-Cacchione syndrome
 * Deaf blind hypopigmentation
 * Deafness conductive ptosis skeletal anomalies
 * Deafness conductive stapedial ear malformation facial palsy
 * Deafness congenital onychodystrophy recessive
 * Deafness craniofacial syndrome
 * Deafness enamel hypoplasia nail defects
 * Deafness epiphyseal dysplasia short stature
 * Deafness goiter stippled epiphyses
 * Deafness hyperuricemia neurologic ataxia
 * Deafness hypogonadism syndrome
 * Deafness hypospadias metacarpal and metatarsal syndrome
 * Deafness mesenteric diverticula of small bowel neuropathy
 * Deafness mixed with perilymphatic Gusher, X-linked
 * Deafness nephritis ano rectal malformation
 * Deafness neurosensory pituitary dwarfism
 * Deafness nonsyndromic, Connexin 26 linked
 * Deafness oligodontia syndrome
 * Deafness onychodystrophy dominant form
 * Deafness peripheral neuropathy arterial disease
 * Deafness progressive cataract autosomal dominant
 * Deafness skeletal dysplasia lip granuloma
 * Deafness symphalangism
 * Deafness vitiligo achalasia
 * Deafness white hair contractures papillomas
 * Deafness X-linked, DFN3
 * Deafness, autosomal dominant nonsyndromic sensorineural
 * Deafness, isolated, due to mitochondrial transmission
 * Deafness, neurosensory nonsyndromic recessive, DFN
 * Deafness, X linked, DFN
 * Deal Barratt Dillon syndrome
 * Deciduous skin
 * Decompensated phoria
 * Defect in synthesis of adenosylcobalamin
 * Defective apolipoprotein B-100
 * Defective expression of HLA class 2
 * Degenerative motor system disease
 * Degenerative optic myopathy
 * Degos disease
 * Degos 'en cocarde' erythrokeratoderma
 * Dehydratase deficiency
 * Deipnophobia
 * Dejerine-Sottas disease
 * Delayed membranous cranial ossification
 * Delayed speech facial asymetry strabismus ear lobe creases
 * Deletion 6q16 q21
 * Delleman Oorthuys syndrome
 * Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
 * Delta-sarcoglycanopathy
 * Dementia progressive lipomembranous polycysta
 * Dementia, familial british
 * Dementophobia
 * Demodicidosis
 * Demonophobia
 * Demyelinating diseases
 * Dendrophobia
 * Dengue fever
 * Dennis Cohen syndrome
 * Dennis Fairhurst Moore syndrome
 * Dent disease
 * Dental aberrations steroid dehydrogenase deficienciency
 * Dental fluorosis
 * Dental tissue neoplasm
 * Dentatorubral pallidoluysian atrophy
 * Dentin dysplasia sclerotic bones
 * Dentin dysplasia, coronal
 * Dentin dysplasia, radicular
 * Dentinogenesis imperfecta
 * Dentophobia
 * Depersonalization disorder
 * Der kaloustian Jarudi Khoury syndrome
 * Der Kaloustian Mcintosh Silver syndrome
 * Dermatitis herpetiformis
 * Dermatocardioskeletal syndrome Boronne type
 * Dermatographic uticaria
 * Dermatoleukodystrophy
 * Dermatomyositis
 * Dermatoosteolysis Kirghizian type
 * Dermatopathia pigmentosa reticularis
 * Dermatophobia
 * Dermochondrocorneal dystrophy of François
 * Dermoodontodysplasia
 * Desbuquois syndrome
 * Desmin related myopathy
 * Desmoid disease
 * Desmoid tumor
 * Desmoplastic small cell tumor
 * Developmental delay hypotonia extremities hypertrophy
 * Developmental dysphasia familial
 * Devic syndrome
 * Devriendt Legius Fryns syndrome
 * Devriendt Vandenberghe Fryns syndrome
 * Dexamethasone sensitive hypertension
 * Dextrocardia with situs inversus
 * Dextrocardia
 * Dextrocardia-bronchiectasis-sinusitis
 * D-glycerate dehydrogenase deficiency
 * D-glycericacidemia
 * Diabetes hypogonadism deafness mental retardation
 * Diabetes insipidus, diabetes mellitus, optic atrophy
 * Diabetes insipidus, nephrogenic type 1
 * Diabetes insipidus, nephrogenic type 2
 * Diabetes insipidus, nephrogenic type 3
 * Diabetes insipidus, nephrogenic, dominant type
 * Diabetes insipidus, nephrogenic, recessive type
 * Diabetes mellitus, transient neonatal
 * Diabetes persistent mullerian ducts
 * Diabetes, insulin dependent
 * Diabetic angiopathy
 * Diabetic embryopathy
 * Diabetic nephropathy
 * Diabetic neuropathy
 * Diamond Blackfan disease
 * Diaphragmatic agenesia
 * Diaphragmatic agenesis radial aplasia omphalocele
 * Diaphragmatic defect limb deficiency skull defect
 * Diaphragmatic hernia abnormal face limb
 * Diaphragmatic hernia exomphalos corpus callosum agenesis
 * Diaphragmatic hernia upper limb defects
 * Diaphragmatic hernia, congenital
 * Diarrhea chronic with villous atrophy
 * Diarrhea polyendocrinopathy infections X linked
 * Diastematomyelia
 * Diastrophic dysplasia
 * Dibasic aminoaciduria 2
 * Dibasic aminoaciduria type 1
 * Dicarboxylicaminoaciduria
 * Die Smulders Droog Van Dijk syndrome
 * Die Smulders Vles Fryns syndrome
 * Diencephalic syndrome
 * Dieterich's disease
 * Diethylstilbestrol antenatal infection
 * Diffuse idiopathic skeletal hyperostosis
 * Diffuse leiomyomatosis with Alport syndrome
 * Diffuse neonatal hemangiomatosis
 * Diffuse palmoplantar keratoderma, Bothnian type
 * Diffuse panbronchiolitis
 * DiGeorge syndrome
 * Digestive duplication
 * Digitorenocerebral syndrome
 * Dihydropteridine reductase deficiency
 * Dihydropyrimidine dehydrogenase deficiency
 * Dilated cardiomyopathy
 * Dimitri Sturge Weber syndrome
 * Dincsoy Salih Patel syndrome
 * Dinno Shearer Weisskopf syndrome
 * Dinophobia
 * Diomedi Bernardi Placidi syndrome
 * Dionisi Vici Sabetta Gambarara syndrome
 * Diphallia
 * Diphallus rachischisis imperforate anus
 * Diphosphoglycerate mutase deficiency of erythrocyte
 * Diphtheria
 * Diplophobia
 * Diprosopia
 * Dipsophobia
 * Disaccharide intolerance iii
 * Discoid lupus erythematosus
 * Dislocation of the hip dysmorphism
 * Disorder in the hormonal synthesis with or without goiter
 * Disorganization syndrome
 * Dissecting cellulitis of the scalp
 * Dissociative hysteria
 * Distal arthrogryposis Moore Weaver type
 * Distal myopathy Markesbery-Griggs type
 * Distal myopathy with vocal cord weakness
 * Distal myopathy, Nonaka type
 * Distal myopathy
 * Distal primary acidosis, familial
 * Distichiasis heart congenital anomalies
 * Distomatosis
 * Diverticulitis
 * Diverticulosis
 * Dk phocomelia syndrome
 * D-minus hemolytic uremic syndrome
 * Dobrow syndrome
 * Dominant cleft palate
 * Dominant ichthyosis vulgaris
 * Dominant zonular cataract
 * Donnai Barrow syndrome
 * Door syndrome
 * Dopamine beta-hydroxylase deficiency
 * DOPA-responsive dystonia
 * Doraphobia
 * Double cortex
 * Double discordia
 * Double fingernail of fifth finger
 * Double outlet left ventricle
 * Double outlet right ventricle
 * Double tachycardia induced by catecholamines
 * Double uterus-hemivagina-renal agenesis
 * Downs syndrome
 * Doxorubicin-induced cardiomyopathy
 * Doyne honeycomb retinal dystrophy
 * D-plus hemolytic uremic syndrome
 * Drachtman Weinblatt Sitarz syndrome
 * Dracunculiasis
 * Duane anomaly mental retardation
 * Duane syndrome
 * Dubin-Johnson syndrome
 * Dubowitz syndrome
 * Duchenne muscular dystrophy
 * Duhring Brocq disease
 * Duhring's disease
 * Duker Weiss Siber syndrome
 * Duodenal atresia tetralogy of Fallot
 * Duodenal atresia
 * Duplication of leg mirror foot
 * Duplication of the thumb unilateral biphalangeal
 * Duplication of urethra
 * Dupont Sellier Chochillon syndrome
 * Dupuytren subungual exostosis
 * Dupuytren's contracture
 * Dust-induced lung disease
 * Dwarfism bluish sclerae
 * Dwarfism deafness retinitis pigmentosa
 * Dwarfism lethal type advanced bone age
 * Dwarfism mental retardation eye abnormality
 * Dwarfism short limb absent fibulas very short digits
 * Dwarfism stiff joint ocular abnormalities
 * Dwarfism syndesmodysplasic
 * Dwarfism tall vertebrae
 * Dwarfism thanatophoric
 * Dwarfism thin bones multiple fractures
 * Dwarfism
 * Dyggve-Melchior-Clausen syndrome
 * Dykes Markes Harper syndrome
 * Dysautonomia (does not have to be familial) (Autonomic Nervous System Diseases)
 * Dysbarism
 * Dyschondrosteosis nephritis
 * Dyschromatosis universalis
 * Dysencephalia splachnocystica or Meckel Gruber
 * Dysequilibrium syndrome
 * Dyserythropoietic anemia, congenital type 1
 * Dyserythropoietic anemia, congenital type 2
 * Dyserythropoietic anemia, congenital type 3
 * Dyserythropoietic anemia, congenital
 * Dysferlinopathy
 * Dysfibrinogenemia, familial
 * Dysgerminoma
 * Dysharmonic skeletal maturation muscular fiber disproportion
 * Dyskeratosis congenita of Zinsser Cole Engman
 * Dyskeratosis congenita
 * Dyskeratosis follicularis
 * Dyskinesia, drug induced
 * Dyskinesia
 * Dysmorphism abnormal vocalization mental retardation
 * Dysmorphism cleft palate loose skin
 * Dysmorphophobia
 * Dysmyelination
 * Dysosteosclerosis
 * Dysostosis acral with facial and genital abnormalities
 * Dysostosis peripheral
 * Dysostosis Stanescu type
 * Dysostosis
 * Dysphasic dementia, hereditary
 * Dysphonia, chronic spasmodic
 * Dysplasia epiphysealis hemimelica
 * Dysplasia
 * Dysplastic cortical hyperostosis
 * Dysplastic nevus syndrome
 * Dysprothrombinemia
 * Dysraphism cleft lip palate limb reduction defects
 * Dyssegmental dysplasia glaucoma
 * Dyssegmental dysplasia Silverman Handmaker type
 * Dysthymia
 * Dystonia musculorum deformans type 1
 * Dystonia musculorum deformans type 2
 * Dystonia musculorum deformans
 * Dystonia progressive with diurnal variation
 * Dystonia
 * Dystrophia myotonica
 * Dystrophic epidermolysis bullosa
 * Dystrophinopathy
 * Dystychiphobia

E

 * EAF
 * Eales disease
 * Ear, patella, short stature syndrome
 * Earlobes thickened conductive deafness
 * Early infantile autism
 * Ebola virus disease
 * Ebstein's anomaly
 * Eccentrochondrodysplasia
 * Eccrine acrospiroma
 * Eclampsia
 * Ecp syndrome
 * Ectodermal dysplasia absent dermatoglyphics
 * Ectodermal dysplasia adrenal cyst
 * Ectodermal dysplasia alopecia preaxial polydactyly
 * Ectodermal dysplasia anhidrotic
 * Ectodermal dysplasia arthrogryposis diabetes mellitus
 * Ectodermal dysplasia Bartalos type
 * Ectodermal dysplasia Berlin type
 * Ectodermal dysplasia blindness
 * Ectodermal dysplasia ectrodactyly macular dystrophy
 * Ectodermal dysplasia hypohidrotic autosomal dominant
 * Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia
 * Ectodermal dysplasia Margarita type
 * Ectodermal dysplasia mental retardation CNS malformation
 * Ectodermal dysplasia mental retardation syndactyly
 * Ectodermal dysplasia neurosensory deafness
 * Ectodermal dysplasia osteosclerosis
 * Ectodermal dysplasia tricho odonto onychial type
 * Ectodermal dysplasia, hydrotic
 * Ectodermal dysplasia, hypohidrotic, autosomal recessive
 * Ectodermal dysplasia
 * Ectodermal dysplasias
 * Ectodermic dysplasia anhidrotic cleft lip
 * Ectopia lentis isolated
 * Ectopia pupillae
 * Ectopic coarctation
 * Ectopic ossification familial type
 * Ectopic pregnancy
 * Ectrodactyly cardiopathy dysmorphism
 * Ectrodactyly cleft palate syndrome
 * Ectrodactyly diaphragmatic hernia corpus callosum
 * Ectrodactyly dominant form
 * Ectrodactyly ectrodermal dysplasia
 * Ectrodactyly polydactyly
 * Ectrodactyly recessive form
 * Ectrodactyly
 * Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
 * Ectropion inferior cleft lip and or palate
 * Edinburgh malformation syndrome
 * Edwards Patton Dilly syndrome
 * Edwards syndrome
 * Eec syndrome without cleft lip palate
 * Eec syndrome
 * Eem syndrome
 * Egg Hypersensitivity
 * Egg shaped pupils
 * Ehlers-Danlos syndrome caused by tenascin-X deficiency.
 * Ehlers-Danlos syndrome type 1
 * Ehlers-Danlos syndrome type 2
 * Ehlers-Danlos syndrome type 3
 * Ehlers-Danlos syndrome type 4, autosomal dominant
 * Ehlers-Danlos syndrome type 5
 * Ehlers-Danlos syndrome type 6
 * Ehlers-Danlos syndrome type 7A
 * Ehlers-Danlos syndrome type 7B
 * Ehlers-Danlos syndrome type 7C
 * Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality
 * Ehlers-Danlos syndrome, arthrochalasic type
 * Ehlers-Danlos syndrome, classic type
 * Ehlers-Danlos syndrome, dermatosparaxis type
 * Ehlers-Danlos syndrome, hypermobile type
 * Ehlers-danlos syndrome, type 11
 * Ehlers-Danlos syndrome
 * Ehrlichiosis
 * Eijkman's syndrome
 * Eisenmenger syndrome
 * Eisoptrophobia
 * Elattoproteus in context of NF
 * Elective mutism
 * Electron transfer flavoprotein, deficiency of
 * Electrophobia
 * Elejalde syndrome
 * Elephant man in context of NF
 * Elephantiasis
 * Elliott Ludman Teebi syndrome
 * Ellis Yale Winter syndrome
 * Ellis-Van Creveld syndrome
 * Emerinopathy
 * Emery Nelson syndrome
 * Emery-Dreifuss muscular dystrophy, dominant type
 * Emery-Dreifuss muscular dystrophy, X-linked
 * Emery-Dreifuss muscular dystrophy
 * Emetophobia
 * Emphysema, congenital lobar
 * Emphysema
 * Emphysema-penoscrotal web-deafness-mental retardation
 * Empty sella syndrome
 * Enamel hypoplasia cataract hydrocephaly
 * Encephalitis lethargica
 * Encephalo cranio cutaneous lipomatosis
 * Encephalocele anencephaly
 * Encephalocele anterior
 * Encephalocele frontal
 * Encephalocele
 * Encephalomyelitis, Myalgic
 * Encephalomyelitis
 * Encephalopathy intracerebral calcification retinal
 * Encephalopathy progressive optic atrophy
 * Encephalopathy subacute spongiform, Gerstmann-Stra
 * Encephalopathy-basal ganglia-calcification
 * Encephalophathy recurrent of childhood
 * Encephalotrigeminal angiomatosis
 * Enchondromatosis (benign)
 * Enchondromatosis dwarfism deafness
 * Endocardial fibroelastosis
 * Endocarditis, infective
 * Endocarditis
 * Endocrinopathy
 * Endometrial stromal sarcoma
 * Endometriosis
 * Endomyocardial fibroelastosis
 * Endomyocardial fibrosis
 * Enetophobia
 * Eng Strom syndrome
 * Engelhard Yatziv syndrome
 * Englemann disease
 * Enochlophobia
 * Enolase deficiency type 1
 * Enolase deficiency type 2
 * Enolase deficiency type 3
 * Enolase deficiency type 4
 * Enolase deficiency
 * Enterobiasis
 * Enteropathica
 * Enterovirus antenatal infection
 * Envenomization by bothrops lanceolatus
 * Envenomization by the Martinique lancehead viper
 * Environment associated hypertension
 * Eosinophilia-myalgia syndrome
 * Eosinophilic cryptitis
 * Eosinophilic cystitis
 * Eosinophilic fasciitis
 * Eosinophilic gastroenteritis
 * Eosinophilic granuloma
 * Eosinophilic lymphogranuloma
 * Eosinophilic Pustular Folliculitis
 * Eosinophilic synovitis
 * Eosophobia
 * Ependymoblastoma
 * Ependymoma
 * Epidemic encephalitis
 * Epidemic encephalomyelitis
 * Epidermal nevus vitamin D resistant rickets
 * Epidermodysplasia verruciformis
 * Epidermoid carcinoma
 * Epidermolysa bullosa simplex and limb girdle muscular dystrophy
 * Epidermolysis bullosa acquisita
 * Epidermolysis bullosa dystrophica, Bart type
 * Epidermolysis bullosa dystrophica, dominant type
 * Epidermolysis bullosa herpetiformis, Dowling-Meara
 * Epidermolysis bullosa intraepidermic
 * Epidermolysis bullosa inversa dystrophica
 * Epidermolysis bullosa simplex with anodontia, hair
 * Epidermolysis bullosa simplex, Cockayne-Touraine type
 * Epidermolysis bullosa simplex, Koebner type
 * Epidermolysis bullosa simplex, Ogna type
 * Epidermolysis bullosa, dermolytic
 * Epidermolysis bullosa, generalized atrophic benign
 * Epidermolysis bullosa, junctional, Herlitz-Pearson
 * Epidermolysis bullosa, junctional, with pyloric atrophy
 * Epidermolysis bullosa, junctional
 * Epidermolysis bullosa, pretibial
 * Epidermolysis bullosa
 * Epidermolytic hyperkeratosis
 * Epidermolytic palmoplantar keratoderma Vorner type
 * Epididymitis
 * Epilepsy benign neonatal dominant form
 * Epilepsy benign neonatal recessive form
 * Epilepsy juvenile absence
 * Epilepsy mental deterioration Finnish type
 * Epilepsy microcephaly skeletal dysplasia
 * Epilepsy occipital calcifications
 * Epilepsy progressive myoclonic type 2
 * Epilepsy telangiectasia
 * Epilepsy with myoclono-astatic crisis
 * Epilepsy, benign occipital
 * Epilepsy, myoclonic progressive familial
 * Epilepsy, nocturnal, frontal lobe type
 * Epilepsy, partial, familial
 * Epilepsy
 * Epimerase deficiency
 * Epimetaphyseal dysplasia cataract
 * Epimetaphyseal skeletal dysplasia
 * Epiphyseal dysplasia dysmorphism camptodactyly
 * Epiphyseal dysplasia hearing loss dysmorphism
 * Epiphyseal dysplasia multiple
 * Epiphyseal stippling syndrome osteoclastic hyperplasia
 * Epiphysealis hemimelica dysplasia
 * Epistaxiophobia
 * Epithelial-myoepithelial carcinoma
 * Epitheliopathy (APMPPE)
 * Epitheliopathy, acute posterior multifocal placoid
 * EPP (erythropoietic protoporphyria)
 * Epstein barr virus mononucleosis
 * Epstein syndrome
 * Equinophobia
 * Erb-Duchenne palsy
 * Erdheim disease
 * Erdheim-Chester syndrome
 * Ereuthrophobia
 * Ergophobia
 * Eronen Somer Gustafsson syndrome
 * Erosive pustular dermatosis of the scalp
 * Erysipelas
 * Erythema multiforme
 * Erythermalgia
 * Erythroblastopenia
 * Erythroderma desquamativa of Leiner
 * Erythroderma lethal congenital
 * Erythrokeratodermia ataxia
 * Erythrokeratodermia progressive symmetrica ichthyosis
 * Erythrokeratodermia symmetrica progressiva
 * Erythrokeratodermia variabilis ichthyosis
 * Erythrokeratodermia variabilis, Mendes da Costa type
 * Erythrokeratodermia with ataxia
 * Erythrokeratolysis hiemalis ichthyosis
 * Erythromelalgia
 * Erythroplakia
 * Erythropoietic protoporphyria
 * Escher Hirt syndrome
 * Esophageal atresia associated anomalies
 * Esophageal atresia coloboma talipes
 * Esophageal atresia
 * Esophageal disorder
 * Esophageal duodenal atresia abnormalities of hands
 * Esophageal neoplasm
 * Esophageal varices
 * Esotropia
 * Essential hypertension
 * Essential iris atrophy
 * Essential mixed cryoglobulinemia
 * Essential thrombocytopenia
 * Essential thrombocytosis
 * Esthesioneuroblastoma
 * Ethylmalonic aciduria
 * Ethylmalonic adipic aciduria
 * Euhidrotic ectodermal dysplasia
 * Eunuchoidism familial
 * Euphobia
 * Evan's syndrome
 * Ewing's sarcoma
 * Exencephaly
 * Exercise induced anaphylaxis
 * Exfoliative dermatitis
 * Exner syndrome
 * Exogenous lipoid pneumonia
 * Exomphalos-macroglossia-gigantism syndrome
 * Exostoses anetodermia brachydactyly type E
 * Exostoses, multiple, type 1
 * Exostoses, multiple, type 2
 * Exostoses, multiple, type 3
 * Exostoses, multiple
 * Exostoses
 * Experimental allergic encephalomyelitis
 * Exstrophy of the bladder
 * Exstrophy of the bladder-epispadias
 * Exsudative retinopathy familial, autosomal dominant
 * Exsudative retinopathy familial, autosomal recessive
 * Exsudative retinopathy familial, X linked, recessive
 * Exsudative retinopathy, familial
 * Extrapyramidal disorder
 * Extrasystoles short stature hyperpigmentation microcephaly
 * Eye defects arachnodactyly cardiopathy
 * Eyebrows duplication syndactyly

F

 * Fabry's disease
 * Faces syndrome
 * Facial asymetry temporal seizures
 * Facial clefting corpus callosum agenesis
 * Facial dysmorphism macrocephaly myopia Dandy Walker type
 * Facial dysmorphism shawl scrotum joint laxity syndrome
 * Facial paralysis
 * Facies unusual arthrogryposis advanced skeletal malformations
 * Facio digito genital syndrome recessive form
 * Facio skeletal genital syndrome Rippberger type
 * Facio thoraco genital syndrome
 * Faciocardiomelic dysplasia lethal
 * Faciocardiorenal syndrome
 * Faciooculoacousticorenal syndrome
 * Facioscapulohumeral muscular dystrophy
 * Factor II deficiency
 * Factor V deficiency
 * Factor V Leiden mutation
 * Factor VII deficiency
 * Factor VIII deficiency
 * Factor X deficiency, congenital
 * Factor X deficiency
 * Factor XI deficiency, congenital
 * Factor XIII deficiency, congenital
 * Factor XIII deficiency
 * Fahr's disease
 * Fairbank disease
 * Fallot tetralogy
 * Familial adenomatous polyposis
 * Familial amyloid polyneuropathy
 * Familial aortic dissection
 * Familial band heterotopia
 * Familial Cold Autoinflamatory Syndrome (FCAS)
 * Familial Colorectal Cancer
 * Familial deafness
 * Familial dilated cardiomyopathy
 * Familial emphysema
 * Familial hyperchylomicronemia
 * Familial hyperlipoproteinemia type I
 * Familial hyperlipoproteinemia type III
 * Familial hyperlipoproteinemia type IV
 * Familial hyperlipoproteinemia
 * Familial hypersensitivity pneumonitis
 * Familial hypertension
 * Familial hypopituitarism
 * Familial hypothyroidism
 * Familial intestinal polyatresia syndrome
 * Familial Mediterranean fever
 * Familial multiple trichodiscomas
 * Familial myelofibrosis
 * Familial nasal acilia
 * Familial non-immune hyperthyroidism
 * Familial opposable triphalangeal thumbs duplication
 * Familial partial epilepsy with variable focus
 * Familial periodic paralysis
 * Familial polyposis
 * Familial porencephaly
 * Familial supernumerary nipples
 * Familial symmetric lipomatosis
 * Familial Treacher Collins syndrome
 * Familial veinous malformations
 * Familial ventricular tachycardia
 * Familial visceral myopathy
 * Familial wilms tumor 2
 * Fanconi anemia type 1
 * Fanconi anemia type 2
 * Fanconi anemia type 3
 * Fanconi Bickel syndrome
 * Fanconi ichthyosis dysmorphism
 * Fanconi like syndrome
 * Fanconi pancytopenia
 * Fanconi syndrome,renal, with nephrocalcinosis and renal stones
 * Fanconi's anemia
 * Fara Chlupackova syndrome
 * Farber's disease
 * Farmer's lung
 * Fas deficiency
 * Fascioliasis
 * Fatal familial insomnia
 * Fatty Liver
 * Faulk Epstein Jones syndrome
 * Faye Petersen Ward Carey syndrome
 * Fazio Londe syndrome
 * Fealty syndrome
 * Febrile seizure
 * Fechtner syndrome
 * Feigenbaum Bergeron Richardson syndrome
 * Feigenbaum Bergeron syndrome
 * Feingold Trainer syndrome
 * Felty's Syndrome
 * Female pseudohermaphrodism Genuardi type
 * Female pseudohermaphrodism
 * Femoral facial syndrome
 * Femur bifid with monodactylous ectrodactyly
 * Femur fibula ulna syndrome
 * Fenton Wilkinson Toselano syndrome
 * Ferlini Ragno Calzolari syndrome
 * Fernhoff Blackston Oakley syndrome
 * Ferrocalcinosis cerebro vascular
 * Fetal acitretin syndrome
 * Fetal akinesia syndrome X linked
 * Fetal aminopterin syndrome
 * Fetal and neonatal alloimmune thrombocytopenia
 * Fetal antihypertensive drugs syndrome
 * Fetal brain disruption sequence
 * Fetal cytomegalovirus syndrome
 * Fetal diethylstilbestrol syndrome
 * Fetal edema
 * Fetal enterovirus syndrome
 * Fetal hydantoin syndrome
 * Fetal indomethacin syndrome
 * Fetal iodine syndrome
 * Fetal left ventricular aneurysm
 * Fetal methimazole syndrome
 * Fetal methyl mercury syndrome
 * Fetal minoxidil syndrome
 * Fetal parainfluenza virus type 3 syndrome
 * Fetal parvovirus syndrome
 * Fetal phenothiazine syndrome
 * Fetal prostaglandin syndrome
 * Fetal thalidomide syndrome
 * Fetal warfarin syndrome
 * FG syndrome
 * Fiber type disproportion, congenital
 * Fibrinogen deficiency, congenital
 * Fibrochondrogenesis
 * Fibrolipomatosis
 * Fibromatosis gingival hypertrichosis
 * Fibromatosis multiple non ossifying
 * Fibromatosis
 * Fibromuscular dysplasia of arteries
 * Fibromuscular dysplasia
 * Fibrosarcoma
 * Fibrosing alveolitis
 * Fibrosing Mediastinitis
 * Fibrous dysplasia of bone
 * Fibrous dysplasia
 * Fibrousdysplasia ossificans progressiva
 * Fibula aplasia complex brachydactyly
 * Fibular aplasia ectrodactyly
 * Fibular hypoplasia femoral bowing oligodactyly
 * Fibular hypoplasia scapulo pelvic dysplasia absent
 * Filariasis
 * Filippi syndrome
 * Fine Lubinsky syndrome
 * Fingerprints absence syndactyly milia
 * Finnish lethal neonatal metabolic syndrome
 * Finnish type amyloidosis
 * Finucane Kurtz Scott syndrome
 * Fish poisoning
 * Fish-eye disease
 * Fissured tongue
 * Fistulous vegetative verrucous hydradenoma
 * Fitz-Hugh-Curtis syndrome
 * Fitzsimmons Walson Mellor syndrome
 * Fitzsimmons-Guilbert syndrome
 * Fitzsimmons-McLachlan-Gilbert syndrome
 * Flavimonas oryzihabitans
 * Flesh eating bacteria
 * Floating-harbor syndrome
 * Florid cystic endosalpingiosis of the uterus
 * Flotch syndrome
 * Fluorosis
 * Flynn Aird syndrome
 * Focal agyria pachygyria
 * Focal alopecia congenital megalencephaly
 * Focal dermal hypoplasia
 * Focal dystonia
 * Focal facial dermal dysplasia
 * Focal or multifocal malformations in neuronal migration
 * Foix-Chavany-Marie syndrome
 * Foix-Alajouanine syndrome
 * Follicular atrophoderma-basal cell carcinoma
 * Follicular Dendritic Cell Tumor
 * Follicular hamartoma alopecia cystic fibrosis
 * Follicular ichthyosis
 * Follicular lymphoma
 * Follicular lymphoreticuloma
 * Fontaine Farriaux Blanckaert syndrome
 * Forbes Albright syndrome
 * Forbes Disease
 * Forestier's disease
 * Formaldehyde poisoning
 * Forney Robinson Pascoe syndrome
 * Fountain syndrome
 * Fowler Christmas Chapele syndrome
 * Fox-Fordyce disease
 * Fragile X syndrome type 1
 * Fragile X syndrome type 2
 * Fragile X syndrome type 3
 * Fragile X syndrome
 * Fragoso Cid Garcia Hernandez syndrome
 * Franceschetti-Klein syndrome
 * Francheschini Vardeu Guala syndrome
 * Francois dyscephalic syndrome
 * Franek Bocker kahlen syndrome
 * Fraser Jequier Chen syndrome
 * Fraser like syndrome
 * Fraser syndrome
 * Frasier syndrome
 * FRAXA syndrome
 * FRAXD
 * FRAXE syndrome
 * Free sialic acid storage disease
 * Freeman-Sheldon syndrome
 * Freiberg's disease
 * Freire Maia odontotrichomelic syndrome
 * Freire Maia Pinheiro Opitz syndrome
 * Frenkel Russe syndrome
 * Frey's syndrome
 * Frias syndrome
 * Fried Goldberg Mundel syndrome
 * Friedel Heid Grosshans syndrome
 * Friedman Goodman syndrome
 * Friedreich ataxia congenital glaucoma
 * Friedreich's ataxia
 * Frigophobia
 * Froelich's syndrome
 * Frölich's syndrome
 * Fronto nasal malformation cloacal exstrophy
 * Frontofacionasal dysplasia type Al gazali
 * Fronto-facio-nasal dysplasia
 * Frontometaphyseal dysplasia
 * Frontonasal dysplasia acromelic
 * Frontonasal dysplasia klippel feil syndrome
 * Frontonasal dysplasia phocomelic upper limbs
 * Frontonasal dysplasia
 * Frontotemporal dementia
 * Froster huch syndrome
 * Froster Iskenius Waterson syndrome
 * Fructose intolerance
 * Fructose-1,6-bisphosphatase deficiency
 * Fructose-1-phosphate aldolase deficiency, heredita
 * Fructosemia, hereditary
 * fructosuria
 * Frydman Cohen Ashenazi syndrome
 * Frydman Cohen Karmon syndrome
 * Fryer syndrome
 * Fryns Fabry Remans syndrome
 * Fryns Hofkens Fabry syndrome
 * Fryns smeets thiry syndrome
 * Fucosidosis type 1
 * Fucosidosis
 * Fuhrmann Rieger De sousa syndrome
 * Fukuda Miyanomae Nakata syndrome
 * Fukuyama type muscular dystrophy
 * Fumarase deficiency
 * Fumaric aciduria
 * Functioning pancreatic endocrine tumor
 * Fuqua Berkovitz syndrome
 * Furlong Kurczynski Hennessy syndrome
 * Furukawa Takagi Nakao syndrome
 * Furunculous myiasis
 * Fused mandibular incisors

G

 * G syndrome
 * Galactocoele
 * Galactokinase deficiency
 * Galactorrhoea-Hyperprolactinaemia
 * Galactosamine-6-sulfatase deficiency
 * Galactose-1-phosphate uridyltransferase deficiency
 * Galloway Mowat syndrome
 * Gamborg Nielsen syndrome
 * Game Friedman Paradice syndrome
 * Gamma aminobutyric acid transaminase deficiency
 * Gamma-cystathionase deficiency
 * Gamma-sarcoglycanopathy
 * Gamstorp episodic adynamy
 * Ganglioglioma
 * Gangliosidosis (Type2)(GM2)
 * Gangliosidosis GM1 type 3
 * Gangliosidosis type1
 * GAPO syndrome
 * Garcia Torres Guarner syndrome
 * Gardner Morrisson Abbot syndrome
 * Gardner Silengo Wachtel syndrome
 * Gardner-Diamond syndrome
 * Gardner's syndrome
 * Garret Tripp syndrome
 * Gas / bloat syndrome
 * Gastric lymphoma
 * Gastritis, familial giant hypertrophic
 * Gastrocutaneous syndrome
 * Gastroenteritis, eosinophilic
 * Gastro-enteropancreatic neuroendocrine tumor
 * Gastroesophageal reflux
 * Gastrointestinal autonomic nerve tumor
 * Gastrointestinal neoplasm
 * Gaucher disease type 1
 * Gaucher disease type 2
 * Gaucher disease type 3
 * Gaucher Disease
 * Gaucher ichthyosis restrictive dermopathy
 * Gaucher-like disease
 * Gaucher's disease
 * Gay Feinmesser Cohen syndrome
 * Geen Sandford Davison syndrome
 * Gelatinous ascites
 * Geleophysic dwarfism
 * Gelineau disease
 * Geliphobia
 * Gemignani syndrome
 * Gemss syndrome
 * Genée-Wiedemann syndrome
 * Generalized malformations in neuronal migration
 * Generalized resistance to thyroid hormone
 * Generalized seizure
 * Generalized torsion dystonia
 * Genes syndrome
 * Genetic Diseases, Inborn
 * Genetic reflex epilepsy
 * Genetic susceptibility to infections caused by BCG
 * Geniophobia
 * Genital anomaly cardiomyopathy
 * Genital dwarfism, Turner type
 * Genital dwarfism
 * Genito palatocardiac syndrome
 * Genu valgum, st. Helena familial
 * Genuphobia
 * Geographic tongue
 * German syndrome
 * Germinal cell aplasia
 * Gerodermia osteodysplastica
 * Gershinibaruch Leibo syndrome
 * Gerstmann syndrome
 * Gestational diabetes mellitus
 * Gestational pemphigoid
 * Gestational trophoblastic disease
 * Ghosal syndrome
 * Ghose Sachdev Kumar syndrome
 * Gianotti-Crosti syndrome
 * Giant axonal neuropathy
 * Giant cell arteritis
 * Giant cell myocarditis
 * Giant congenital nevi
 * Giant ganglionic hyperplasia
 * Giant hypertrophic gastritis
 * Giant mammary hamartoma
 * Giant papillary conjunctivitis
 * Giant pigmented hairy nevus
 * Giant platelet syndrome
 * Giardiasis
 * Giedion syndrome
 * Gigantism advanced bone age hoarse cry
 * Gigantism partial, nevi, hemihypertrophy, macrocephaly
 * Gigantism
 * Gilbert's syndrome
 * Gingival fibromatosis dominant
 * Gingival fibromatosis facial dysmorphism
 * Gingival fibrosis
 * Gingivitis
 * Girate atrophy of choroid and retina
 * Gitelman syndrome
 * Glanzmann thrombasthenia
 * Glass Chapman Hockley syndrome
 * Glaucoma ecopia microspherophakia stiff joints short stature
 * Glaucoma iridogoniodysgenesia
 * Glaucoma sleep apnea
 * Glaucoma type 1C
 * Glaucoma, congenital
 * Glaucoma, hereditary adult type 1A
 * Glaucoma, hereditary juvenile type 1B
 * Glaucoma, hereditary
 * Glaucoma, primary infantile type 3A
 * Glaucoma, primary infantile type 3B
 * Glioblastoma multiforme
 * Glioblastoma
 * Glioma
 * Gliomatosis cerebri
 * Gliosarcoma
 * Globel disaccharide intolerance
 * Glomerulonephritis sparse hair telangiectases
 * Glomerulonephritis
 * Glomerulosclerosis
 * Gloomy face syndrome
 * Glossodynia
 * Glossopalatine ankylosis micrognathia ear anomalies
 * Glossopharyngeal neuralgia
 * Glossophobia
 * Glucagonoma
 * Glucocorticoid deficiency, familial
 * Glucocorticoid resistance
 * Glucocorticoid sensitive hypertension
 * Glucose 6 phosphate dehydrogenase deficiency
 * Glucose-6-phosphate translocase deficiency
 * Glucose-galactose malabsorption
 * Glucosephosphate isomerase deficiency
 * Glucosidase acid-1,4-alpha deficiency
 * Glut2 deficiency
 * Glutamate decarboxylase deficiency
 * Glutamate-aspartate transport defect
 * Glutaricaciduria I
 * Glutaricaciduria II
 * Glutaryl-CoA dehydrogenase deficiency
 * Glyceraldehyde-3-phosphate dehydrogenase deficiency
 * Glycine synthase deficiency
 * Glycogen storage disease type 1B
 * Glycogen storage disease type 1C
 * Glycogen storage disease type 1D
 * Glycogen storage disease type 6, due to phosphorylation
 * Glycogen storage disease type 7
 * Glycogen storage disease type 9
 * Glycogen storage disease type II
 * Glycogen storage disease type V
 * Glycogen storage disease type VI
 * Glycogen storage disease type VII
 * Glycogen storage disease type VIII
 * Glycogenosis type II
 * Glycogenosis type III
 * Glycogenosis type IV
 * Glycogenosis type V
 * Glycogenosis type VI
 * Glycogenosis type VII
 * Glycogenosis type VIII
 * Glycogenosis, type 0
 * Glycosuria
 * GM2 gangliosidosis, 0 variant
 * GM2-gangliosidosis, B, B1, AB variant
 * Gms syndrome
 * Goldberg Bull syndrome
 * Goldberg syndrome
 * Goldblatt Wallis syndrome
 * Goldblatt Wallis Zieff syndrome
 * Goldblatt Viljoen syndrome
 * Goldenhar disease
 * Goldskag Cooks Hertz syndrome
 * Goldstein Hutt syndrome
 * Gollop Coates syndrome
 * Gollop syndrome
 * Goltz syndrome
 * Gombo syndrome
 * Gomez and López-Hernández syndrome
 * Gonadal dysgenesis mixed
 * Gonadal dysgenesis Turner type
 * Gonadal dysgenesis XY type associated anomalies
 * Gonadal dysgenesis, XX type
 * Gonadal dysgenesis, XY female type
 * Gonadal dysgenesis
 * Goniodysgenesis mental retardation short stature
 * Gonococcal conjunctivitis
 * Gonzales Del Angel syndrome
 * Goodman camptodactyly
 * Goodpasture pneumorenal syndrome
 * Goodpasture's syndrome
 * Gordon hyperkaliemia-hypertension syndrome
 * Gordon syndrome
 * Gorham syndrome
 * Gorham-Stout disease
 * Gorlin Bushkell Jensen syndrome
 * Gorlin Chaudhry Moss syndrome
 * Gottron's syndrome
 * Gougerot-Sjogren syndrome
 * Gouty nephropathy, familial
 * Graft versus host disease
 * Graham Boyle Troxell syndrome
 * Grand Kaine Fulling syndrome
 * Grant syndrome
 * Granulocytopenia
 * Granuloma annulare
 * Granulomas, congenital cerebral
 * Granulomatosis, lymphomatoid
 * Granulomatous allergic angiitis
 * Granulomatous hypophysitis
 * Granulomatous rosacea
 * Graphite Pneumoconiosis
 * Graves' disease
 * Gray platelet syndrome
 * Great vessels transposition
 * Greenberg dysplasia
 * Greig cephalopolysyndactyly syndrome GCPS
 * Griscelli disease
 * Grix Blankenship Peterson syndrome
 * Groll Hirschowitz syndrome
 * Grosse syndrome
 * Grover's disease
 * Growth deficiency brachydactyly unusual facies
 * Growth delay, constitutional
 * Growth hormone deficiency
 * Growth mental deficiency syndrome of Myhre
 * Growth retardation alopecia pseudoanodontia optic
 * Growth retardation hydrocephaly lung hypoplasia
 * Growth retardation mental retardation phalangeal hypoplasia
 * Grubben Decock Borghgraef syndrome
 * GTP cyclohydrolase deficiency
 * Guanidinoacetate methyltransferase deficiency
 * Guérin-Stern syndrome
 * Guibaud Vainsel syndrome
 * Guillain-Barre syndrome
 * Guizar Vasquez Luengas syndrome
 * Guizar Vasquez Sanchez Manzano syndrome
 * Gunal Seber Basaran syndrome
 * Gupta Patton syndrome
 * Gurrieri Sammito Bellussi syndrome
 * Gusher syndrome
 * Gymnophobia
 * Gyrate atrophy of the retina
 * Gyrate atrophy

H

 * Hageman factor deficiency
 * Hagemoser Weinstein Bresnick syndrome
 * Hailey-Hailey disease
 * Hair defect with photosensitivity and mental retardation
 * Hairy cell leukemia
 * Hairy ears, y-linked
 * Hairy ears
 * Hairy nose tip
 * Hairy palms and soles
 * Hairy tongue
 * Hajdu-Cheney syndrome
 * Halal Setton Wang syndrome
 * Halal syndrome
 * Hall Riggs mental retardation syndrome
 * Hallermann Streiff Francois syndrome
 * Hallervorden-Spatz disease
 * Hamanishi Ueba Tsuji syndrome
 * Hamano Tsukamoto syndrome
 * Hamartoma sebaceus of Jadassohn
 * Hand and foot deformity flat facies
 * Hand foot uterus syndrome
 * Hand wringing Rett syndrome
 * Hand-foot-mouth disease
 * Hand-Schuller-Christian disease
 * Hanhart syndrome
 * Hantavirosis
 * Hantavirus pulmonary syndrome
 * Hapnes Boman Skeie syndrome
 * Hard skin syndrome Parana type
 * HARD syndrome
 * Harding ataxia
 * Harlequin type ichthyosis
 * Harpaxophobia
 * Harrod Doman Keele syndrome
 * Hartnup disease
 * Hartsfield Bixler Demyer syndrome
 * Hashimoto struma
 * Hashimoto-Pritzker syndrome
 * Hashimoto's syndrome
 * Haspeslagh Fryns Muelenaere syndrome
 * Hay Wells syndrome recessive type
 * Hay-Wells syndrome
 * Headache, cluster
 * Hearing disorder
 * Hearing impairment
 * Hearing loss
 * Heart aneurysm
 * Heart block progressive, familial
 * Heart block
 * Heart defect round face congenital retarded development
 * Heart defect tongue hamartoma polysyndactyly
 * Heart defects limb shortening
 * Heart hand syndrome Spanish type
 * Heart hypertrophy, hereditary
 * Heart situs anomaly
 * Heart tumor of the adult
 * Heart tumor of the child
 * Heavy metal poisoning
 * Hec syndrome
 * Hecht Scott syndrome
 * Heckenlively syndrome
 * Heide syndrome
 * Heliophobia
 * HELLP syndrome
 * Helmerhorst Heaton Crossen syndrome
 * Helminthiasis
 * HEM dysplasia
 * Hemangioblastoma
 * Hemangioendothelioma
 * Hemangioma thrombocytopenia syndrome
 * Hemangioma, capillary infantile
 * Hemangioma
 * Hemangiomatosis, familial pulmonary capillary
 * Hemangiopericytoma
 * Hemeralopia, congenital essential
 * Hemeralopia, familial
 * Hemi 3 syndrome
 * Hemifacial atrophy agenesis of the caudate nucleus
 * Hemifacial atrophy progressive
 * Hemifacial hyperplasia strabismus
 * Hemifacial microsomia
 * Hemihypertrophy in context of NF
 * Hemihypertrophy intestinal web corneal opacity
 * Hemimegalencephaly
 * Hemiplegia
 * Hemiplegic migraine, familial
 * Hemoglobin C disease
 * Hemoglobin E disease
 * Hemoglobin SC disease
 * Hemoglobinopathy
 * Hemoglobinuria
 * Hemolytic anemia lethal genital anomalies
 * Hemolytic-uremic syndrome
 * Hemophagocytic lymphohistiocytosis
 * Hemophagocytic reticulosis
 * Hemophilia A
 * Hemophilic arthropathy
 * Hemophobia
 * Hemorragic fever with renal syndrome
 * Hemorrhagic fever
 * Hemorrhagic proctocolitis
 * Hemorrhagic thrombocythemia
 * Hemorrhagiparous thrombocytic dystrophy
 * Hemosiderosis
 * Hennekam Beemer syndrome
 * Hennekam Koss de Geest syndrome


 * Hennekam syndrome
 * Hennekam Van der Horst syndrome
 * Hepadnovirus D
 * Heparane sulfamidase deficiency
 * Heparin-induced thrombopenia
 * Hepatic cystic hamartoma
 * Hepatic ductular hypoplasia
 * Hepatic fibrosis renal cysts mental retardation
 * Hepatic fibrosis
 * Hepatic venoocclusive disease
 * Hepatic veno-occlusive disease
 * Hepatitis A
 * Hepatitis B
 * Hepatitis C
 * Hepatitis D
 * Hepatitis non-A non-B
 * Hepatitis non-A
 * Hepatitis non-B
 * Hepatitis, chronic autoimmune
 * Hepatitis
 * Hepatoblastoma
 * Hepatocellular carcinoma
 * Hepatorenal syndrome
 * Hepatorenal tyrosinemia
 * Hereditary amyloidosis
 * Hereditary angioedema
 * Hereditary ataxia
 * Hereditary carnitine deficiency myopathy
 * Hereditary carnitine deficiency syndrome
 * Hereditary carnitine deficiency
 * Hereditary ceroid-lipofuscinosis
 * Hereditary coproporphyria
 * Hereditary deafness
 * Hereditary elliptocytosis
 * Hereditary fructose intolerance
 * Hereditary hearing disorder
 * Hereditary hearing loss
 * Hereditary hemochromatosis
 * Hereditary hemorrhagic telangiectasia
 * Hereditary hyperuricemia
 * Hereditary macrothrombocytopenia
 * Hereditary methemoglobinemia, recessive
 * Hereditary myopathy with intranuclear filamentous
 * Hereditary nodular heterotopia
 * Hereditary non-spherocytic hemolytic anemia
 * Hereditary pancreatitis
 * Hereditary paroxysmal cerebral ataxia
 * Hereditary peripheral nervous disorder
 * Hereditary primary Fanconi disease
 * Hereditary resistance to anti-vitamin K
 * Hereditary sensory and autonomic neuropathy 3
 * Hereditary sensory and autonomic neuropathy 4
 * Hereditary sensory neuropathy type I
 * Hereditary sensory neuropathy type II
 * Hereditary spastic paraplegia
 * Hereditary spherocytic hemolytic anemia
 * Hereditary spherocytosis
 * Hereditary type 1 neuropathy
 * Hereditary type 2 neuropathy
 * Hermansky-Pudlak syndrome
 * Hermaphroditism
 * Hernandez Aguire Negrete syndrome
 * Herpes encephalitis
 * Herpes simplex disease
 * Herpes simplex encephalitis
 * Herpes viridae disease
 * Herpes virus antenatal infection
 * Herpes zoster oticus
 * Herpes zoster
 * Herpesvirus simiae B virus
 * Herpetic embryopathy
 * Herpetic keratitis
 * Herpetophobia
 * Herrmann Opitz arthrogryposis syndrome
 * Herrmann Opitz craniosynostosis
 * Hers disease
 * Hersh Podruch Weisskopk syndrome
 * Heterophobia
 * Heterotaxia (generic term)
 * Heterotaxia autosomal dominant type
 * Heterotaxy with polysplenia or asplenia
 * Heterotaxy, visceral, X-linked
 * Hexosaminidases A and B deficiency
 * HHH syndrome
 * Hibernian fever, familial
 * Hiccups
 * Hidradenitis suppurativa familial
 * Hidradenitis suppurativa
 * Hidrotic ectodermal dysplasia type Christianson Fouris
 * High scapula
 * High-molecular-weight kininogen deficiency, congenital
 * Hillig syndrome
 * Hing Torack Dowston syndrome
 * Hinson-Pepys disease
 * Hip dislocation
 * Hip dysplasia Beukes type
 * Hip Dysplasia
 * Hip luxation
 * Hip subluxation
 * Hipo syndrome
 * Hirschsprung disease ganglioneuroblastoma
 * Hirschsprung disease polydactyly heart disease
 * Hirschsprung disease type 2
 * Hirschsprung disease type 3
 * Hirschsprung disease type d brachydactyly
 * Hirschsprung microcephaly cleft palate
 * Hirschsprung nail hypoplasia dysmorphism
 * Hirschsprung's disease
 * Hirsutism congenital gingival hyperplasia
 * Hirsutism skeletal dysplasia mental retardation
 * His bundle tachycardia
 * Histidinemia
 * Histidinuria renal tubular defect
 * Histiocytosis X
 * Histiocytosis, Non-Langerhans-Cell
 * Hittner Hirsch Kreh syndrome
 * Hm syndrome
 * HMG CoA lyase deficiency
 * HMG CoA synthetase deficiency
 * Hodgkin lymphoma
 * Hodgkin's disease
 * Hodophobia
 * Hoepffner Dreyer Reimers syndrome
 * Hollow visceral myopathy
 * Holmes Benacerraf syndrome
 * Holmes Borden syndrome
 * Holmes Collins syndrome
 * Holmes Gang syndrome
 * Holoacardius amorphus
 * Holocarboxylase synthetase deficiency
 * Holoprosencephaly caudal dysgenesis
 * Holoprosencephaly deletion 2p
 * Holoprosencephaly ectrodactyly cleft lip palate
 * Holoprosencephaly radial heart renal anomalies
 * Holoprosencephaly
 * Holt-Oram syndrome
 * Holzgreve Wagner Rehder syndrome
 * Homocarnosinase deficiency
 * Homocarnosinosis
 * Homocystinuria due to cystathionine beta-synthase
 * Homocystinuria due to defect in methylation (cbl g)
 * Homocystinuria due to defect in methylation cbl e
 * Homocystinuria due to defect in methylation, MTHFR deficiency
 * Homocystinuria
 * Homologous wasting disease
 * Homophobia
 * Homozygous hypobetalipoproteinemia
 * Hoon Hall syndrome
 * Hordnes Engebretsen Knudtson syndrome
 * Horn Kolb syndrome
 * Horner's syndrome
 * Hornova Dlurosova syndrome
 * Horseshoe kidney
 * Horton disease, juvenile
 * Horton disease
 * Houlston Ironton Temple syndrome
 * Howard Young syndrome
 * Howell-Evans syndrome
 * Hoyeraal Hreidarsson syndrome
 * Hoyeraal syndrome
 * HSV-2 infection
 * Human granulocytic ehrlichiosis
 * Human monocytic ehrlichiosis
 * Human parvovirus B19 infection
 * Humero spinal dysostosis congenital heart disease
 * Humeroradial synostosis
 * Humeroradioulnar synostosis
 * Humerus trochlea aplasia of
 * Hunter Carpenter Mc donald syndrome
 * Hunter Jurenka Thompson syndrome
 * Hunter Macpherson syndrome
 * Hunter Mcalpine syndrome
 * Hunter Mcdonald syndrome
 * Hunter Rudd Hoffmann syndrome
 * Hunter syndrome
 * Huntington's disease
 * Huriez scleroatrophic syndrome
 * Hurler syndrome
 * Hurst Hallam Hockey syndrome
 * Hutchinson Gilford Progeria Syndrome
 * Hutchinson incisors
 * Hutchinson-Gilford syndrome
 * Hutteroth Spranger syndrome
 * Hyalinosis systemic short stature
 * Hyaloideoretinal degeneration of wagner
 * Hydantoin antenatal infection
 * Hydatidosis
 * Hyde Forster Mccarthy Berry syndrome
 * Hydranencephaly
 * Hydrocephalus - Arnold Chiari - allied disorders
 * Hydrocephalus autosomal recessive
 * Hydrocephalus costovertebral dysplasia Sprengel anomaly
 * Hydrocephalus craniosynostosis bifid nose
 * Hydrocephalus endocardial fibroelastosis cataract
 * Hydrocephalus growth retardation skeletal anomalies
 * Hydrocephalus obesity hypogonadism
 * Hydrocephalus skeletal anomalies
 * Hydrocephalus
 * Hydrocephaly corpus callosum agenesis diaphragmatic hernia
 * Hydrocephaly low insertion umbilicus
 * Hydrocephaly tall stature joint laxity
 * Hydrolethalus syndrome
 * Hydronephrosis congenital
 * Hydronephrosis peculiar facial expression
 * Hydrophobia
 * Hydrops ectrodactyly syndactyly
 * Hydrops fetalis anemia immune disorder absent thumb
 * Hydrops fetalis
 * Hydroxycarboxylic aciduria
 * Hydroxymethylglutaricaciduria
 * Hygroma cervical
 * Hymenolepiasis
 * Hyper IgE
 * Hyper IgM syndrome
 * Hyperadrenalism
 * Hyperaldosteronism familial type 2
 * Hyperaldosteronism, familial type 1
 * Hyperaldosteronism
 * Hyperammonemia
 * Hyperandrogenism
 * Hyperbilirubinemia transient familial neonatal
 * Hyperbilirubinemia type 1
 * Hyperbilirubinemia type 2
 * Hyperbilirubinemia
 * Hypercalcemia, familial benign type 1
 * Hypercalcemia, familial benign type 2
 * Hypercalcemia, familial benign type 3
 * Hypercalcemia, familial benign
 * Hypercalcemia
 * Hypercalcinuria idiopathic
 * Hypercalcinuria macular coloboma
 * Hypercalcinuria
 * Hypercementosis
 * Hypercholesterolemia due to arg3500 mutation of Apo B-100
 * Hypercholesterolemia due to LDL receptor deficiency
 * Hypercholesterolemia
 * Hyperchylomicronemia
 * Hypereosinophilic syndrome
 * Hyperexplexia
 * Hyperferritinemia, hereditary, with congenital cataracts
 * Hyperglycerolemia
 * Hyperglycinemia, isolated nonketotic type 1
 * Hyperglycinemia, isolated nonketotic type 2
 * Hyperglycinemia, isolated nonketotic
 * Hyperglycinemia
 * Hypergonadotropic ovarian failure, familial or sporadic
 * Hyperhidrosis
 * Hyperhomocysteinemia
 * Hyper-IgD syndrome
 * Hyperimidodipeptiduria
 * Hyperimmunoglobinemia D with recurrent fever
 * Hyperimmunoglobulin E - reccurrent infection syndrome
 * Hyperimmunoglobulinemia D with periodic fever
 * Hyperimmunoglobulinemia E
 * Hyperinsulinism due to focal adenomatous hyperplasia
 * Hyperinsulinism due to glucokinase deficiency
 * Hyperinsulinism due to glutamodehydrogenase deficiency
 * Hyperinsulinism in children, congenital
 * Hyperinsulinism, diffuse
 * Hyperinsulinism, focal
 * Hyperkalemia
 * Hyperkalemic periodic paralysis
 * Hyperkeratosis lenticularis perstans of Flegel
 * Hyperkeratosis lenticularis perstans
 * Hyperkeratosis palmoplantar localized acanthokeratolytic
 * Hyperkeratosis palmoplantar localized epidermolytic
 * Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
 * Hyperlipoproteinemia type I
 * Hyperlipoproteinemia type II
 * Hyperlipoproteinemia type III
 * Hyperlipoproteinemia type V
 * Hyperlipoproteinemia
 * Hyperlysinemia
 * Hyperornithinemia
 * Hyperornithinemia-hyperammonemia-homocitrullinuria
 * Hyperostosid corticalis deformans juvenilis
 * Hyperostosis cortical infantile
 * Hyperostosis corticalis generalisata
 * Hyperostosis frontalis interna
 * Hyperoxaluria type 1
 * Hyperoxaluria type 2
 * Hyperoxaluria
 * Hyperparathyroidism, familial, primary
 * Hyperparathyroidism, neonatal severe primary
 * Hyperparathyroidism
 * Hyperphalangism dysmorphy bronchomalacia
 * Hyperphenilalaninemia due to pterin-4-alpha-carbin
 * Hyperphenylalalinemia due to dihydropteridine reductase deficiency
 * Hyperphenylalaninemia due to 6-pyruvoyltetrahydrop
 * Hyperphenylalaninemia due to dehydratase deficiency
 * Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
 * Hyperphenylalaninemic embryopathy
 * Hyperpipecolatemia
 * Hyperprolactinemia
 * Hyperprolinemia type II
 * Hyperprolinemia
 * Hyperreflexia
 * Hyper-reninism
 * Hypersomnolence
 * Hypertelorism and tetralogy of Fallot
 * Hypertelorism hypospadias syndrome
 * Hypertension
 * Hypertensive hyperkalemia, familial
 * Hypertensive hypokalemia familial
 * Hypertensive retinopathy
 * Hyperthermia induced defects
 * Hyperthermia
 * Hyperthyroidism due to mutations in TSH receptor
 * Hypertrichosis atrophic skin ectropion macrostomia
 * Hypertrichosis brachydactyly obesity and mental retardation
 * Hypertrichosis congenital generalized X linked
 * Hypertrichosis lanuginosa congenita
 * Hypertrichosis lanuginosa, acquired
 * Hypertrichosis retinopathy dysmorphism
 * Hypertrichosis, anterior cervical
 * Hypertrichotic osteochondrodysplasia
 * Hypertriglycidemia
 * Hypertrophic branchial myopathy
 * Hypertrophic cardiomyopathy
 * Hypertrophic hemangiectasia
 * Hypertrophic myocardiopathy
 * Hypertrophic osteoarthropathy, primary or idiopathic
 * Hypertropic neuropathy of Dejerine-Sottas
 * Hypertryptophanemia
 * Hypoadrenalism
 * Hypoadrenocorticism hypoparathyroidism moniliasis
 * Hypoaldosteronism
 * Hypo-alphalipoproteinemia primary
 * Hypobetalipoproteinaemia ataxia hearing loss
 * Hypobetalipoprotéinemia, familial
 * Hypocalcemia, autosomal dominant
 * Hypocalcemia
 * Hypocalcinuric hypercalcemia, familial type 1
 * Hypocalcinuric hypercalcemia, familial type 2
 * Hypocalcinuric hypercalcemia, familial type 3
 * Hypocalcinuric hypercalcemia, familial
 * Hypochondrogenesis
 * Hypochondroplasia
 * Hypocomplementemic urticarial vasculitis
 * Hypodermyasis
 * Hypodontia dysplasia of nails
 * Hypodontia of incisors and premolars
 * Hypofibrinogenemia, familial
 * Hypoglycemia with deficiency of glycogen synthetase in the liver
 * Hypoglycemia
 * Hypogonadism cardiomyopathy
 * Hypogonadism hypogonadotropic due to mutations in GR hormone
 * Hypogonadism male mental retardation skeletal anomaly
 * Hypogonadism mitral valve prolapse mental retardation
 * Hypogonadism primary partial alopecia
 * Hypogonadism retinitis pigmentosa
 * Hypogonadism, isolated, hypogonadotropic
 * Hypogonadism
 * Hypogonadotropic hypogonadism syndactyly
 * Hypogonadotropic hypogonadism without anosmia, X linked
 * Hypogonadotropic hypogonadism-anosmia, X linked
 * Hypogonadotropic hypogonadism-anosmia
 * Hypohidrotic Ectodermal Dysplasia
 * Hypokalemia
 * Hypokalemic alkalosis with hypercalcinuria
 * Hypokalemic periodic paralysis
 * Hypokaliemic periodic paralysis type 1
 * Hypoketonemic hypoglycemia
 * Hypolipoproteinemia
 * Hypomagnesemia primary
 * Hypomandibular faciocranial dysostosis
 * Hypomelanotic disorder
 * Hypomelia mullerian duct anomalies
 * Hypomentia
 * Hypoparathyroidism familial isolated
 * Hypoparathyroidism nerve deafness nephrosis
 * Hypoparathyroidism short stature mental retardation
 * Hypoparathyroidism short stature
 * Hypoparathyroidism X linked
 * Hypoparathyroidism
 * Hypophosphatasia, infantile
 * Hypophosphatasia
 * Hypophosphatemic rickets
 * Hypopigmentation oculocerebral syndrome Cross type
 * Hypopituitarism micropenis cleft lip palate
 * Hypopituitarism postaxial polydactyly
 * Hypopituitarism
 * Hypopituitary dwarfism
 * Hypoplasia hepatic ductular
 * Hypoplasia of the tibia with polydactyly
 * Hypoplastic left heart syndrome
 * Hypoplastic right heart microcephaly
 * Hypoplastic thumb mullerian aplasia
 * Hypoplastic thumbs hydranencephaly
 * Hypoproconvertinemia
 * Hypoprothrombinemia
 * Hyporeninemic hypoaldosteronism
 * Hyposmia nasal hypoplasia hypogonadism
 * Hypospadias familial
 * Hypospadias mental retardation Goldblatt type
 * Hypotelorism cleft palate hypospadias
 * Hypothalamic dysfunction
 * Hypothalamic hamartoblastoma syndrome
 * Hypothalamic hamartomas
 * Hypothermia
 * Hypothyroidism due to iodide transport defect
 * Hypothyroidism postaxial polydactyly mental retardation
 * Hypothyroidism
 * Hypotonic sclerotic muscular dystrophy
 * Hypotrichosis mental retardation Lopes type
 * Hypotrichosis
 * Hypoxanthine guanine phosphoribosyltransferase deficiency
 * Hypoxia

I

 * I cell disease
 * IBIDS syndrome
 * ICF syndrome
 * Ichthyophobia
 * Ichthyosiform erythroderma corneal involvement deafness
 * Ichthyosis alopecia eclabion ectropion mental retardation
 * Ichthyosis and male hypogonadism
 * Ichthyosis bullosa of Siemens
 * Ichthyosis cheek eyebrow syndrome
 * Ichthyosis congenita biliary atresia
 * Ichthyosis deafness mental retardation skeletal anomaly
 * Ichthyosis follicularis atrichia photophobia syndrome
 * Ichthyosis hepatosplenomegaly cerebellar degeneration
 * Ichthyosis hystrix, Curth Macklin type
 * Ichthyosis linearis circumflexa
 * Ichthyosis male hypogonadism
 * Ichthyosis mental retardation Devriendt type
 * Ichthyosis mental retardation dwarfism renal impairment
 * Ichthyosis microphthalmos
 * Ichthyosis tapered fingers midline groove up
 * Ichthyosis vulgaris
 * Ichthyosis, erythrokeratolysis hemalis
 * Ichthyosis, keratosis follicularis spinulosa Decalvans
 * Ichthyosis, lamellar recessive
 * Ichthyosis, Netherton syndrome
 * Idaho syndrome
 * Idiopathic acute eosinophilic pneumonia
 * Idiopathic adolescent scoliosis
 * Idiopathic adult neutropenia
 * Idiopathic alveolar hypoventilation syndrome
 * Idiopathic congenital nystagmus, dominant, X- linked
 * Idiopathic diffuse interstitial fibrosis
 * Idiopathic dilatation of the pulmonary artery
 * Idiopathic dilation cardiomyopathy
 * Idiopathic double athetosis
 * Idiopathic edema
 * Idiopathic eosinophilic chronic pneumopathy
 * Idiopathic facial palsy
 * Idiopathic hypereosinophilic syndrome
 * Idiopathic infection caused by BCG or atypical mycobacteria
 * Idiopathic juvenile osteoporosis
 * Idiopathic pulmonary fibrosis
 * Idiopathic pulmonary hemosiderosis
 * Idiopathic sclerosing mesenteritis
 * Idiopathic thrombocytopenic purpura
 * Iduronate 2-sulfatase deficiency
 * IFAP syndrome
 * IgA deficiency
 * IGDA syndrome
 * Illum syndrome
 * Illyngophobia
 * Ilyina Amoashy Grygory syndrome
 * Imaizumi Kuroki syndrome
 * Iminoglycinuria
 * Immotile cilia syndrome, due to defective radial spokes
 * Immotile cilia syndrome, due to excessively long cilia
 * Immotile cilia syndrome, Kartagener type
 * Immune deficiency, familial variable
 * Immune thrombocytopenia
 * Immunodeficiency with short limb dwarfism
 * Immunodeficiency, microcephaly with normal intelligence
 * Imperforate anus
 * Imperforate oropharynx costo vetebral anomalies
 * Impossible syndrome
 * Inborn amino acid metabolism disorder
 * Inborn branched chain aminoaciduria
 * Inborn error of metabolism
 * Inborn metabolic disorder
 * Inborn renal aminoaciduria
 * Inborn urea cycle disorder
 * Incisors fused
 * Inclusion conjunctivitis
 * Incontinentia pigmenti type 1
 * Incontinentia pigmenti type 2
 * Incontinentia pigmenti
 * Indomethacin antenatal infection
 * Infant epilepsy with migrant focal crisis
 * Infantile apnea
 * Infantile axonal neuropathy
 * Infantile convulsions and paroxysmal choreoathetosis, familial
 * Infantile digital fibromatosis
 * Infantile dysphagia
 * Infantile multisystem inflammatory disease
 * Infantile myofibromatosis
 * Infantile onset spinocerebellar ataxia
 * Infantile recurrent chronic multifocal osteomyolitis
 * Infantile sialic acid storage disorder
 * Infantile spasms broad thumbs
 * Infantile spasms
 * Infantile spinal muscular atrophy
 * Infantile striato thalamic degeneration
 * Infectious arthritis
 * Infectious myocarditis
 * Infective endocarditis
 * Inflammatory breast cancer
 * Infundibulopelvic stenosis multicystic kidney
 * Insectophobia
 * Insensitivity to pain with anhidrosis
 * Instability mitotic non disjunction syndrome
 * Insulinoma
 * Insulin-resistance type B
 * Insulin-resistant acanthosis nigricans, type A
 * Intercellular cholesterol esterification disease
 * Interferon gamma, receptor 1, deficiency
 * Internal carotid agenesis
 * Interstitial cystitis
 * Interstitial pneumonia
 * Intestinal atresia multiple
 * Intestinal lipodystrophy
 * Intestinal malrotation facial anomalies familial type
 * Intestinal pseudoobstruction chronic idiopathic
 * Intestinal pseudo-obstruction
 * Intoeing
 * Intracranial aneurysms multiple congenital anomaly
 * Intracranial arterioveinous malformation
 * Intractable singultus
 * Intrathoracic kidney vertebral fusion
 * Intrauterine growth retardation mandibular malar hypoplasia
 * Intrauterine infections
 * Intrinsic factor, congenital deficiency of
 * Iodine antenatal infection
 * Iophobia
 * Iridocyclitis
 * Iridogoniodysgenesis, dominant type
 * Iris dysplasia hypertelorism deafness
 * Iritis
 * Irons Bhan syndrome
 * Isaacs Mertens syndrome
 * Isaacs syndrome
 * Ischiadic hypoplasia renal dysfunction immunodeficiency
 * Ischiopatellar dysplasia
 * Isosporosiasis
 * Isotretinoin embryopathy
 * Isthmian coarctation
 * Ivemark syndrome
 * Ivic Syndrome

J

 * Jackson-Weiss syndrome
 * Jacobs syndrome
 * Jacobsen syndrome
 * Jadassohn Lewandowsky syndrome
 * Jaffer Beighton syndrome
 * Jalili syndrome
 * Jancar syndrome
 * Jankovic Rivera syndrome
 * Jansen type metaphyseal chondrodysplasia
 * Jansky-Bielschowsky disease
 * Japanese encephalitis
 * Jarcho-Levin syndrome
 * Jejunal atresia
 * Jensen syndrome
 * Jequier Kozlowski skeletal dysplasia
 * Jervell Lange-Nielsen syndrome
 * Jeune syndrome situs inversus
 * Jeune syndrome
 * Job syndrome
 * Johanson Blizzard syndrome
 * Johnson Hall Krous syndrome
 * Johnson Munson syndrome
 * Johnston Aarons Schelley syndrome
 * Jones Hersh Yusk syndrome
 * Jones syndrome
 * Jorgenson Lenz syndrome
 * Joseph disease
 * Joubert syndrome bilateral chorioretinal coloboma
 * Joubert syndrome
 * Juberg Hayward syndrome
 * Juberg Marsidi syndrome
 * Judge Misch Wright syndrome
 * Jumping Frenchmen of Maine
 * Jung Wolff Back Stahl syndrome
 * Juvenile cataract cerebellar atrophy myopathy mental retardation
 * Juvenile dermatomyositis
 * Juvenile gastrointestinal polyposis
 * Juvenile gout
 * Juvenile hyaline fibromatosis
 * Juvenile macular degeneration hypotrichosis
 * Juvenile muscular atrophy of the distal upper limb
 * Juvenile myoclonic epilepsy
 * Juvenile nephronophthisis
 * Juvenile rheumatoid arthritis
 * Juvenile temporal arteritis

K

 * Kabuki syndrome
 * Kalam Hafeez syndrome
 * Kaler Garrity Stern syndrome
 * Kallikrein hypertension
 * Kallman syndrome with Spastic paraplegia
 * Kallmann syndrome with heart disease
 * Kallmann syndrome, type 1, X linked
 * Kallmann syndrome, type 3, recessive
 * Kalyanraman syndrome
 * Kantaputra Gorlin syndrome
 * Kaolin pneumoconiosis
 * Kaplan Plauchu Fitch syndrome
 * Kaplowitz Bodurtha syndrome
 * Kaposi sarcoma
 * Kaposiform hemangio-endothelioma
 * Kapur Toriello syndrome
 * Karandikar Maria Kamble syndrome
 * Karsch Neugebauer syndrome
 * Kartagener syndrome
 * Kashani Strom Utley syndrome
 * Kasznica Carlson Coppedge syndrome
 * Kathisophobia
 * Katsantoni Papadakou Lagoyanni syndrome
 * Katz syndrome
 * Kaufman oculocerebrofacial syndrome
 * Kawasaki syndrome
 * KBG syndrome
 * Kearns-Sayre syndrome
 * Keloids
 * Kennedy disease
 * Kennerknecht Sorgo Oberhoffer syndrome
 * Kennerknecht Vogel syndrome
 * Kenny Caffey syndrome
 * Kenny-Caffey syndrome, Type 1
 * Keratitis, hereditary
 * Keratoacanthoma familial
 * Keratoacanthoma
 * Keratoconjunctivitis sicca
 * Keratoconus posticus circumscriptus
 * Keratoconus
 * Keratoderma hypotrichosis leukonychia
 * Keratoderma palmoplantar deafness
 * Keratoderma palmoplantar spastic paralysis
 * Keratoderma palmoplantaris transgrediens
 * Keratolytic winter erythema
 * Keratomalacia
 * Keratosis focal palmoplantar gingival
 * Keratosis follicularis dwarfism cerebral atrophy
 * Keratosis follicularis spinulosa decalvans
 * Keratosis palmoplantaris adenocarcinoma of the colon
 * Keratosis palmoplantaris esophageal colon cancer
 * Keratosis palmoplantaris papulosa
 * Keratosis palmoplantaris with corneal dystrophy
 * Keratosis palmoplantar-periodontopathy
 * Keratosis, seborrheic
 * Kerion celsi
 * Kernicterus
 * Keutel syndrome
 * Ki-1cell lymphoma
 * KID syndrome
 * Kifafa seizure disorder
 * Kikuchi disease
 * Kimura disease
 * King-Denborough syndrome
 * Kleeblattschaedel syndrome
 * Kleine Levin Syndrome
 * Kleiner Holmes syndrome
 * Klippel Feil deformity conductive deafness absent vagina
 * Klippel Feil syndrome dominant type
 * Klippel Feil syndrome recessive type
 * Klippel Trenaunay Weber syndrome
 * Klippel-Feil syndrome
 * Klumpke paralysis
 * Klüver-Bucy syndrome
 * Kniest dysplasia
 * Kniest like dysplasia lethal
 * Knobloch layer syndrome
 * Knuckle pads, leuconychia and sensorineural deafness
 * Kobberling-Dunnigan syndrome
 * Kocher-Debré-Semélaigne syndrome
 * Kohler disease
 * Kohlschutter Tonz syndrome
 * Konigsmark Knox Hussels syndrome
 * Koone Rizzo Elias syndrome
 * Korsakoff's syndrome
 * Korula Wilson Salomonson syndrome
 * Kostmann syndrome
 * Kosztolanyi syndrome
 * Kotzot-Richter syndrome
 * Kousseff Nichols syndrome
 * Kousseff syndrome
 * Kowarski syndrome
 * Kozlowski Brown Hardwick syndrome
 * Kozlowski Celermajer syndrome
 * Kozlowski Massen syndrome
 * Kozlowski Ouvrier syndrome
 * Kozlowski Rafinski Klicharska syndrome
 * Kozlowski Tsuruta Taki syndrome
 * Kozlowski Warren Fisher syndrome
 * Kozlowski-Krajewska syndrome
 * Krabbe leukodystrophy
 * Krasnow Qazi syndrome
 * Krause-Kivlin syndrome
 * Krauss Herman Holmes syndrome
 * Krieble Bixler syndrome
 * Kumar Levick syndrome
 * Kurczynski Casperson syndrome
 * Kuskokwim disease
 * Kuster Majewski Hammerstein syndrome
 * Kuster syndrome
 * Kuzniecky syndrome
 * Kyasanur Forrest disease
 * Kyphosis brachyphalangy optic atrophy

L

 * Labrador lung
 * Labyrinthitis syndrome
 * Lachiewicz Sibley syndrome
 * Lacrimo-auriculo-dento-digital syndrome
 * Lactate dehydrogenase deficiency type A
 * Lactate dehydrogenase deficiency type B
 * Lactate dehydrogenase deficiency type C
 * Lactate dehydrogenase deficiency
 * Lactic acidosis congenital infantile
 * Lactose intolerance
 * Ladda Zonana Ramer syndrome
 * Lafora disease
 * Lagophthalmia cleft lip palate
 * Lambdoid synostosis familial
 * Lambert syndrome
 * Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration)
 * Lambert-Eaton syndrome
 * Lamellar ichthyosis
 * Lamellar recessive ichthyosis
 * Landau-Kleffner syndrome
 * Landouzy-Dejerine muscular dystrophy
 * Landy Donnai syndrome
 * Langdon Down
 * Langer Nishino Yamaguchi syndrome
 * Langer-Giedion syndrome
 * Langerhans cell granulomatosis
 * Langerhans cell histiocytosis
 * Laparoschisis
 * Laplane Fontaine Lagardere syndrome
 * Large B cell diffuse lymphoma
 * Laron-type dwarfism
 * Larsen like osseous dysplasia dwarfism
 * Larsen like syndrome lethal type
 * Larsen syndrome craniosynostosis
 * Larsen syndrome, dominant type
 * Larsen syndrome, recessive type
 * Larsen syndrome
 * Laryngeal abductor paralysis mental retardation
 * Laryngeal carcinoma
 * Laryngeal cleft
 * Laryngeal neoplasm
 * Laryngeal papillomatosis
 * Laryngeal web congenital heart disease short stature
 * Laryngocele
 * Laryngomalacia dominant congenital
 * Laryngomalacia
 * Larynx atresia
 * Lassueur-Graham-Little syndrome
 * Late onset dominant cone dystrophy
 * Lateral body wall defect
 * Laterality defects dominant
 * Lattice corneal dystrophy type 2
 * Launois-Bensaude adenolipomatosis
 * Laurence Prosser Rocker syndrome
 * Laurence-Moon-Bardet-Biedl syndrome
 * Laurin Sandrow syndrome
 * Laxova Brown Hogan syndrome
 * LBWC - amniotic bands
 * LBWD syndrome
 * LCHAD deficiency
 * Leao Ribeiro Da Silva syndrome
 * Learman syndrome
 * Leber miliary aneurysm
 * Leber optic atrophy
 * Leber's Disease
 * Lecithin cholesterol acyltransferase deficiency
 * Ledderhose disease
 * Lee Root Fenske syndrome
 * Left ventricle-aorta tunnel
 * Leg absence deformity cataract
 * Legg-Calvé-Perthes syndrome
 * Legionellosis
 * Legionnaire's disease
 * Lehman syndrome
 * Leichtman Wood Rohn syndrome
 * Leifer Lai Buyse syndrome
 * Leigh disease
 * Leigh syndrome, French canadian type
 * Leiner disease
 * Leiomyoma
 * Leiomyomatosis familial
 * Leiomyomatosis of oesophagus cataract hematuria
 * Leiomyosarcoma
 * Leipala Kaitila syndrome
 * Leishmaniasis
 * Leisti Hollister Rimoin syndrome
 * Lemierre's syndrome
 * Lennox-Gastaut syndrome
 * Lentiginosis in context of NF
 * Lenz Majewski hyperostotic dwarfism
 * Lenz microphthalmia syndrome
 * Leprechaunism
 * Leprophobia
 * Leprosy
 * Leptomeningeal capillary - venous angiomatosis
 * Leptospirosis
 * Leri pleonosteosis
 * Leri-Weil syndrome
 * Lesch-Nyhan syndrome
 * Lethal chondrodysplasia Moerman type
 * Lethal chondrodysplasia Seller type
 * Lethal congenital contracture syndrome
 * Letterer-Siwe disease
 * Leucinosis
 * Leukemia subleukemic
 * Leukemia, B-Cell, chronic
 * Leukemia, Myeloid
 * Leukemia, T-Cell, chronic
 * Leukemia
 * Leukocyte adhesion deficiency syndrome
 * Leukocyte adhesion deficiency type 2
 * Leukocytoclastic angiitis
 * Leukodystrophy reunion type
 * Leukodystrophy, globoid cell
 * Leukodystrophy, metachromatic
 * Leukodystrophy, psuedometachromatic
 * Leukodystrophy, Sudanophilic
 * Leukodystrophy
 * Leukoencephalopathy palmoplantar keratoderma
 * Leukomalacia
 * Leukomelanoderma mental redardation hypotrichosis
 * Leukophobia
 * Leukoplakia
 * Levator syndrome
 * Levic Stefanovic Nikolic syndrome
 * Levine Crichley syndrome
 * Lewandowski Kikolich syndrome
 * Lewis Pashayan syndrome
 * Lewy body dementia
 * Lewy body disease
 * Leydig cells hypoplasia
 * LGCR
 * LGS
 * Lhermitte-Duclos disease
 * Lichen myxedematosus
 * Lichen planus follicularis
 * Lichen planus
 * Lichen sclerosis et atrophicus
 * Lichstenstein syndrome
 * Lida Kannari syndrome
 * Liddle syndrome
 * Li-Fraumeni syndrome
 * Light chain disease
 * Ligyrophobia
 * Limb deficiencies distal micrognathia
 * Limb dystonia
 * Limb reduction defect
 * Limb scalp and skull defects
 * Limb transversal defect cardiac anomaly
 * Limb-body wall complex
 * Limb-girdle muscular dystrophy
 * Limnophobia
 * Lindsay Burn syndrome
 * Lindstrom syndrome
 * Linear hamartoma syndrome
 * Linear nevus syndrome
 * Linonophobia
 * Lip lit syndrome
 * Lipid storage myopathy
 * Lipidosis with triglycerid storage disease
 * Lipoamide dehydrogenase deficiency
 * Lipodystrophy Rieger anomaly diabetes
 * Lipodystrophy
 * Lipogranulomatosis
 * Lipoid congenital adrenal hyperplasia
 * Lipoid proteinosis of Urbach and Wiethe
 * Lipomatosis central non-encapsulated
 * Lipomatosis familial benign cervical
 * Lipomucopolysaccharidosis
 * Lipoprotein disorder
 * Liposarcoma
 * Lisker Garcia Ramos syndrome
 * Lison Kornbrut Feinstein syndrome
 * Lissencephaly immunodeficiency
 * Lissencephaly syndrome type 1
 * Lissencephaly syndrome type 2
 * Lissencephaly, isolated
 * Lissencephaly
 * Listeria infection
 * Listeriosis
 * Liticaphobia
 * Liver cirrhosis
 * Liver neoplasms
 * Lobar atrophy of brain
 * Lobstein disease
 * Localized epiphyseal dysplasia
 * Locked-in syndrome
 * Lockwood Feingold syndrome
 * Loffredo Cennamo Cecio syndrome
 * Logic syndrome
 * Loiasis
 * Loin pain hematuria syndrome
 * Long QT syndrome type 1
 * Long QT syndrome type 2
 * Long QT syndrome type 3
 * Long QT Syndrome
 * Loose anagen hair syndrome
 * Loose anagene syndrome
 * Lopes Gorlin syndrome
 * Lopes Marques de Faria syndrome
 * Lopez Hernandez syndrome
 * Lou Gehrig's disease
 * Louis Bar syndrome
 * Low birth weight dwarfism dysgammaglobulinemia
 * Lowe Kohn Cohen syndrome
 * Lowe oculocerebrorenal syndrome
 * Lowe syndrome
 * Lower limb anomaly ureteral obstruction
 * Lower limb deficiency hypospadias
 * Lower mesodermal defects
 * Lowry Maclean syndrome
 * Lowry syndrome
 * Lowry Wood syndrome
 * Lowry Yong syndrome
 * LSA
 * L-transposition and ccTGA
 * Lubani Al Saleh Teebi syndrome
 * Lubinsky syndrome
 * Lucey Driscoll syndrome
 * Lucky Gelehrter syndrome
 * Lúes Congénita
 * Luiphobia
 * Lujan-Fryns syndrome
 * Lumbar malsegmentation short stature
 * Lundberg syndrome
 * Lung agenesis heart defect thumb anomalies
 * Lung cancer
 * Lung herniation congenital defect of sternem
 * Lung neoplasm
 * Lupus anticoagulant, familial
 * Lupus
 * Lurie Kletsky syndrome
 * Luteinizing hormone releasing hormone, deficiency of with ataxia
 * Lutz Richner Landolt syndrome
 * Lutz-Lewandowsky epidermodysplasia verruciformis
 * Lyell's syndrome
 * Lygophobia
 * Lymph node neoplasm
 * Lymphadenopathy, angioimmunoblastic with dysproteinemia
 * Lymphangiectasies lymphoedema type Hennekam type
 * Lymphangiectasis
 * Lymphangioleiomyomatosis
 * Lymphangiomatosis, pulmonary
 * Lymphangiomyomatosis
 * Lymphatic filariasis
 * Lymphatic neoplasm
 * Lymphedema distichiasis
 * Lymphedema hereditary type 1
 * Lymphedema hereditary type 2
 * Lymphedema ptosis
 * Lymphedema, congenital
 * Lymphedema
 * Lymphedema-Distichiasis syndrome
 * Lymphoblastic lymphoma
 * Lymphocytes reduced or absent
 * Lymphocytic colitis
 * Lymphocytic infiltrate of Jessner
 * Lymphocytic vasculitis
 * Lymphoid hamartoma
 * Lymphoma, AIDS-related
 * Lymphoma, gastric non Hodgkins type
 * Lymphoma, large-cell, immunoblastic
 * Lymphoma, large-cell
 * Lymphoma, small cleaved-cell, diffuse
 * Lymphoma, small cleaved-cell, follicular
 * Lymphoma
 * Lymphomatoid granulomatosis
 * Lymphomatoid papulosis (LyP)
 * Lymphomatous thyroiditis
 * Lymphosarcoma
 * Lynch Lee Murday syndrome
 * Lynch-Bushby syndrome
 * Lyngstadaas syndrome
 * LyP (lymphomatoid papulosis)
 * Lysine alpha-ketoglutarate reductase deficiency
 * Lysinuric protein intolerance
 * Lysosomal alpha-D-mannosidase deficiency
 * Lysosomal beta-mannosidase deficiency
 * Lysosomal disorders
 * Lysosomal glycogen storage disease with normal acid maltase activity

M

 * Mac Dermot Patton Williams syndrome
 * Mac Dermot Winter syndrome
 * Macias Flores Garcia Cruz Rivera syndrome
 * Mackay Shek Carr syndrome
 * Macleod Fraser syndrome
 * Macrocephaly cutis marmorata telangiectatica
 * Macrocephaly dominant type
 * Macrocephaly mental retardation facial dysmorphism
 * Macrocephaly mesodermal hamartoma spectrum
 * Macrocephaly mesomelic arms talipes
 * Macrocephaly pigmentation large hands feet
 * Macrocephaly short stature paraplegia
 * Macrodactyly of the foot
 * Macrodactyly of the hand
 * Macroepiphyseal dysplasia Mcalister Coe type
 * Macroglobulinemia
 * Macroglossia dominant
 * Macroglossia exomphalos gigantism
 * Macrogyria pseudobulbar palsy
 * Macrophagic myofasciitis
 * Macrosomia developmental delay dysmorphism
 * Macrosomia microphthalmia cleft palate
 * Macrothrombocytopenia progressive deafness
 * Macrothrombocytopenia with leukocyte inclusions
 * Macular corneal dystrophy
 * Macular degeneration juvenile
 * Macular degeneration, age-related
 * Macular degeneration, polymorphic
 * Macular degeneration
 * Macular dystrophy, vitelliform
 * Macules hereditary congenital hypopigmented and hyperpigmented
 * Mad cow disease
 * Madelung's disease
 * Madokoro Ohdo Sonoda syndrome
 * Maffucci syndrome
 * Mageirocophobia
 * Maghazaji syndrome
 * Magnesium defect in renal tubular transport of
 * Magnesium wasting renal
 * Mal de debarquement
 * Malakoplakia
 * Malaria
 * Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency
 * Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
 * Male pseudohermaphroditism due to defective LH molecule
 * Malformations in neuronal migration
 * Malignant astrocytoma
 * Malignant fibrous histiocytoma
 * Malignant germ cell tumor
 * Malignant hyperthermia arthrogryposis torticollis
 * Malignant hyperthermia susceptibility type 1
 * Malignant hyperthermia susceptibility type 2
 * Malignant hyperthermia susceptibility type 3
 * Malignant hyperthermia susceptibility type 4
 * Malignant hyperthermia susceptibility type 5
 * Malignant hyperthermia susceptibility type 6
 * Malignant hyperthermia
 * Malignant mesenchymal tumor
 * Malignant mixed Mullerian tumor
 * Malignant paroxysmal ventricular tachycardia
 * Mallory-Weiss syndrome
 * Malonic aciduria
 * Malonyl-CoA decarboxylase deficiency
 * Malouf syndrome
 * Malpuech facial clefting syndrome
 * Mandibuloacral dysplasia
 * Mandibulofacial dysostosis deafness postaxial polydactly
 * Manic Depression, Bipolar
 * Manic-depressive psychosis, genetic types
 * Mannosidosis
 * Manouvrier syndrome
 * Mansonelliasis
 * Mantle cell lymphoma
 * Marashi Gorlin syndrome
 * Marchiafava Bignami disease
 * Marchiafava-Micheli disease
 * Marcus Gunn phenomenon
 * Marden Walker like syndrome
 * Marden-Walker syndrome
 * Marek disease
 * Marfan Syndrome type II
 * Marfan Syndrome type III
 * Marfan Syndrome type IV
 * Marfan Syndrome type V
 * Marfan syndrome
 * Marfan-like syndrome, Boileau type
 * Marfan-Like syndrome
 * Marfanoid craniosynostosis syndrome
 * Marfanoid hypermobility
 * Marfanoid mental retardation syndrome autosomal
 * Marginal glioneuronal heterotopia
 * Marie type ataxia
 * Marie Unna congenital hypotrichosis
 * Marinesco Sjogren like syndrome
 * Marinesco-Sjogren syndrome
 * Marion Mayers syndrome
 * Markel Vikkula Mulliken syndrome
 * Marles Greenberg Persaud syndrome
 * Maroteaux Cohen Solal Bonaventure syndrome
 * Maroteaux Fonfria syndrome
 * Maroteaux Le Merrer Bensahel syndrome
 * Maroteaux Stanescu Cousin syndrome
 * Maroteaux Verloes Stanescu syndrome
 * Maroteaux-Lamy syndrome
 * Marphanoid syndrome type De Silva
 * Marsden Nyhan Sakati syndrome
 * Marsden syndrome
 * Marshall syndrome
 * Marshall-Smith syndrome
 * Martinez Monasterio Pinheiro syndrome
 * Martsolf Reed Hunter syndrome
 * Martsolf syndrome
 * MASA syndrome
 * Mass syndrome
 * Massa Casaer Ceulemans syndrome
 * Mast cell disease
 * Mastigophobia
 * Mastocytosis, short stature, hearing loss
 * Mastocytosis
 * Mastroiacovo De Rosa Satta syndrome
 * Mastroiacovo Gambi Segni syndrome
 * MAT deficiency
 * Maternal hyperphenylalaninemia
 * Maternally inherited diabetes and deafness
 * Mathieu De Broca Bony syndrome
 * Matsoukas Liarikos Giannika syndrome
 * Matthew-Wood syndrome
 * Maturity onset diabetes of the young
 * Maumenee syndrome
 * Maxillary double lip
 * Maxillofacial dysostosis
 * Maxillonasal dysplasia, Binder type
 * Mayer Rokitanski Kuster syndrome
 * May-Hegglin anomaly
 * McAlister Crane syndrome
 * McArdle disease
 * McCallum Macadam Johnston syndrome
 * McCune-Albright syndrome
 * McDonough syndrome
 * McDowall syndrome
 * McGillivray syndrome
 * McKusick Kaufman syndrome
 * McKusick type metaphyseal chondrodysplasia
 * McLain Debakian syndrome
 * McPherson Clemens syndrome
 * McPherson Robertson Cammarano syndrome
 * Meacham Winn Culler syndrome
 * Meadows syndrome
 * Measles
 * Meckel like syndrome
 * Meckel syndrome
 * Medeira Dennis Donnai syndrome
 * Median cleft lip corpus callosum lipoma skin polyps
 * Median nodule of the upper lip
 * Mediastinal endodermal sinus tumors
 * Mediterranean fever
 * Medium-chain Acyl-CoA dehydrogenase deficiency
 * Medrano Roldan syndrome
 * Medullary cystic disease
 * Medullary thyroid carcinoma
 * Medulloblastoma
 * Megacystis microcolon intestinal hypoperistalsis syndrome
 * Megaduodenum
 * Megaepiphyseal dwarfism
 * Megalencephalic leukodystrophy
 * Megalencephaly-cystic leukodystrophy
 * Megaloblastic anemia
 * Megalocornea mental retardation syndrome
 * Megalocytic Interstitial Nephritis
 * Mehes syndrome
 * Mehta Lewis Patton syndrome
 * Meier Blumberg Imahorn syndrome
 * Meier Rotschild syndrome
 * Meige syndrome
 * Meigel disease
 * Meinecke Pepper syndrome
 * Meinecke syndrome
 * Melanoma type 1
 * Melanoma type 2
 * Melanoma, familial
 * Melanoma, Malignant
 * Melanoma-astrocytoma syndrome
 * Melanosis neurocutaneous
 * MELAS
 * Meleda Disease
 * Melhem Fahl syndrome
 * Melkersson-Rosenthal syndrome
 * Melnick-Needles osteodysplasty
 * Melnick-Needles syndrome
 * Melophobia
 * Membranoproliferative glomerulonephritis (type II)
 * Mendelian susceptibility to atypical mycobacteria
 * Menetrier's disease
 * Mengel Konigsmark syndrome
 * Meniere's disease
 * Meningeal angiomatosis cleft hypoplastic left heart
 * Meningioma 1
 * Meningioma
 * Meningitis, meningococcal
 * Meningitis
 * Meningocele
 * Meningococcemia
 * Meningoencephalocele
 * Meningoencephalocele-arthrogryposis-hypoplastic thumb
 * Meningomyelocele
 * Menophobia
 * Mental deficiency-epilepsy-endocrine disorders
 * Mental mixed retardation deafnes clubbed digits
 * Mental retardation anophthalmia craniosynostosis
 * Mental retardation arachnodactyly hypotonia telangiectasia
 * Mental retardation athetosis microphthalmia
 * Mental retardation blepharophimosis obesity web neck
 * Mental retardation Buenos Aires type
 * Mental retardation cataracts calcified pinnae myopathy
 * Mental retardation coloboma slimness
 * Mental retardation contractural arachnodactyly
 * Mental retardation dysmorphism hypogonadism diabetes
 * Mental retardation epilepsy bulbous nose
 * Mental retardation epilepsy
 * Mental retardation gynecomastia obesity X linked
 * Mental retardation hip luxation G6PD variant
 * Mental retardation hypocupremia hypobetalipoproteinemia
 * Mental retardation hypotonia skin hyperpigmentation
 * Mental retardation macrocephaly coarse facies hypotonia
 * Mental retardation microcephaly phalangeal facial
 * Mental retardation microcephaly unusual facies
 * Mental retardation Mietens Weber type
 * Mental retardation multiple nevi
 * Mental retardation myopathy short stature endocrine defect
 * Mental retardation nasal hypoplasia obesity genital hypoplasia
 * Mental retardation nasal papillomata
 * Mental retardation osteosclerosis
 * Mental retardation progressive spasticity
 * Mental retardation psychosis macroorchidism
 * Mental retardation short broad thumbs
 * Mental retardation short stature absent phalanges
 * Mental retardation short stature Bombay phenotype
 * Mental retardation short stature cleft palate unusual facies
 * Mental retardation short stature deafness genital
 * Mental retardation short stature hand contractures genital anomalies
 * Mental retardation short stature heart and skeletal anomalies
 * Mental retardation short stature hypertelorism
 * Mental retardation short stature microcephaly eye
 * Mental retardation short stature ocular and articular anomalies
 * Mental retardation short stature scoliosis
 * Mental retardation short stature unusual facies
 * Mental retardation short stature wedge shaped epiphyses
 * Mental retardation skeletal dysplasia abducens palsy
 * Mental retardation Smith Fineman Myers type
 * Mental retardation spasticity ectrodactyly
 * Mental retardation unusual facies Ampola type
 * Mental retardation unusual facies Davis Lafer type
 * Mental retardation unusual facies talipes hand anomalies
 * Mental retardation unusual facies
 * Mental retardation Wolff type
 * Mental retardation X linked Atkin type
 * Mental retardation X linked borderline Maoa metabolism anomaly
 * Mental retardation X linked Brunner type
 * Mental retardation X linked dysmorphism
 * Mental retardation X linked dystonia dysarthria
 * Mental retardation X linked severe Gustavson type
 * Mental retardation X linked short stature obesity
 * Mental retardation X linked Tranebjaerg type seizures psoriasis
 * Mental retardation, unexplained
 * Mental retardation, X linked, Marfanoid habitus
 * Mental retardation, X linked, nonspecific
 * Mental retardation, X-linked 14
 * Mental retardation
 * Mental retardation-polydactyly-uncombable hair
 * Mercury poisoning
 * Meretoja syndrome
 * Merkle tumors
 * Merlob Grunebaum Reisner syndrome
 * Merlob syndrome
 * Mesangial sclerosis, diffuse
 * Mesenteric panniculitis
 * Mesodermal defects lower type
 * Mesomelia synostoses
 * Mesomelia
 * Mesomelic dwarfism cleft palate camptodactyly
 * Mesomelic dwarfism Langer type
 * Mesomelic dwarfism Nievergelt type
 * Mesomelic dwarfism Reinhardt Pfeiffer type
 * Mesomelic dysplasia skin dimples
 * Mesomelic dysplasia Thai type
 * Mesomelic syndrome Pfeiffer type
 * Mesothelioma
 * Metabolic disorder
 * Metabolic Syndrome X
 * Metacarpals 4 and 5 fusion
 * Metachondromatosis
 * Metageria
 * Metaphyseal anadysplasia
 * Metaphyseal chondrodysplasia Schmid type
 * Metaphyseal chondrodysplasia Spahr type
 * Metaphyseal chondrodysplasia, others
 * Metaphyseal dysostosis mental retardation conductive deafness
 * Metaphyseal dysplasia maxillary hypoplasia brachydactyly
 * Metaphyseal dysplasia Pyle type
 * Metastatic insulinoma
 * Metatarsus adductus
 * Metathesiophobia
 * Metatrophic dysplasia
 * Metatropic dwarfism
 * Methimazole antenatal infection
 * Methionine adenosyl transferase deficiency
 * Methyl mercury antenatal infection
 * Methylcobalamin deficiency cbl G type
 * Methylcobalamin deficiency, cbl E complementation type
 * Methylenetetrahydrofolate reductase deficiency
 * Methylmalonic acidemia with homocystinuria
 * Methylmalonic acidemia
 * Methylmalonic aciduria microcephaly cataract
 * Methylmalonicacidemia with homocystinuria, cbl D
 * Methylmalonicaciduria with homocystinuria, cbl F
 * Methylmalonicaciduria, vitamin B12 unresponsive, mut-0
 * Methylmalonyl-Coenzyme A mutase deficiency
 * Mevalonate kinase deficiency
 * Mevalonicaciduria
 * Meyenburg-Altherr-Uehlinger syndrome
 * Michelin tire baby syndrome
 * Michels Caskey syndrome
 * Michels syndrome
 * Mickleson syndrome
 * Micrencephaly corpus callosum agenesis
 * Micrencephaly olivopontocerebellar hypoplasia
 * Micro syndrome
 * Microbrachycephaly ptosis cleft lip
 * Microcephalic osteodysplastic primordial dwarfism
 * Microcephalic primordial dwarfism Toriello type
 * Microcephalic primordial dwarfism
 * Microcephaly albinism digital anomalies syndrome
 * Microcephaly autosomal dominant
 * Microcephaly brachydactyly kyphoscoliosis
 * Microcephaly brain defect spasticity hypernatremia
 * Microcephaly cardiac defect lung malsegmentation
 * Microcephaly cardiomyopathy
 * Microcephaly cervical spine fusion anomalies
 * Microcephaly chorioretinopathy recessive form
 * Microcephaly cleft palate autosomal dominant
 * Microcephaly deafness syndrome
 * Microcephaly developmental delay pancytopenia
 * Microcephaly facial clefting preaxial polydactyly
 * Microcephaly glomerulonephritis Marfanoid habitus
 * Microcephaly hiatus hernia nephrotic syndrome
 * Microcephaly hypergonadotropic hypogonadism short stature
 * Microcephaly immunodeficiency lymphoreticuloma
 * Microcephaly intracranial calcification
 * Microcephaly lymphoedema chorioretinal dysplasia
 * Microcephaly lymphoedema syndrome
 * Microcephaly mental retardation retinopathy
 * Microcephaly mental retardation spasticity epilepsy
 * Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
 * Microcephaly microcornea syndrome Seemanova type
 * Microcephaly micropenis convulsions
 * Microcephaly microphthalmos blindness
 * Microcephaly nonsyndromal
 * Microcephaly pontocerebellar hypoplasia dyskinesia
 * Microcephaly seizures mental retardation heart disorders
 * Microcephaly sparse hair mental retardation seizures
 * Microcephaly syndactyly brachymesophalangy
 * Microcephaly with chorioretinopathy, autosomal dominant form
 * Microcephaly with normal intelligence, immunodeficiency
 * Microcephaly with spastic quadriplegia
 * Microcephaly, holoprosencephaly, and intrauterine growth retardation
 * Microcephaly, primary autosomal recessive
 * Microcephaly
 * Microcoria, congenital
 * Microcornea corectopia macular hypoplasia
 * Microcornea glaucoma absent frontal sinuses
 * Microdontia hypodontia short stature
 * Microencephaly
 * Microgastria limb reduction defect
 * Microgastria short stature diabetes
 * Micromelic dwarfism Fryns type
 * Micromelic dysplasia dislocation of radius
 * Microphobia
 * Microphtalmos bilateral colobomatous orbital cyst
 * Microphthalmia camptodactyly mental retardation
 * Microphthalmia cataract
 * Microphthalmia diaphragmatic hernia Fallot
 * Microphthalmia mental deficiency
 * Microphthalmia microtia fetal akinesia
 * Microphthalmia, Lentz type
 * Microphthalmia
 * Microphthalmos, microcornea, and sclerocornea
 * Microscopic polyangiitis
 * Microsomia hemifacial radial defects
 * Microspherophakia metaphyseal dysplasia
 * Microsporidiosis
 * Microtia, meatal atresia and conductive deafness
 * Microvillus inclusion disease
 * Miculicz syndrome
 * MIDAS syndrome
 * Midline cleft of lower lip
 * Midline defects autosomal type
 * Midline defects recessive type
 * Midline developmental field defects
 * Midline field defects
 * Midline lethal granuloma
 * Mietens syndrome
 * Mievis Verellen Dumoulin syndrome
 * Mikulicz' Disease
 * Mikulicz syndrome
 * Miller Fisher syndrome
 * Miller-Dieker syndrome
 * Milner Khallouf Gibson syndrome
 * MILS syndrome
 * Minkowski-Chauffard disease
 * Minoxidil antenatal infection
 * Miosis, congenital
 * Mirror hands feet nasal defects
 * Mirror polydactyly segmentation and limbs defects
 * Misophobia
 * Mitochondrial cytopathy (generic term)
 * Mitochondrial diseases of nuclear origin
 * Mitochondrial diseases, clinically undefinite
 * Mitochondrial Diseases
 * Mitochondrial encephalomyopathy aminoacidopathy
 * Mitochondrial genetic disorders
 * Mitochondrial myopathy lactic acidosis
 * Mitochondrial myopathy-encephalopathy-lactic acidosis
 * Mitochondrial PEPCK deficiency
 * Mitochondrial trifunctional protein deficiency
 * Mitral atresia
 * Mitral regurgitation deafness skeletal anomalies
 * Mitral valve prolapse, familial, autosomal dominant
 * Mitral valve prolapse, familial, X linked
 * Mitral valve prolapse
 * Miura syndrome
 * Mixed connective tissue disease
 * Mixed Mullerian tumor
 * Mixed sclerosing bone dystrophy
 * MLS syndrome
 * MMEP syndrome
 * MMT syndrome
 * MN1
 * MNGIE syndrome
 * Mobius syndrome
 * MODY syndrome
 * Moebius axonal neuropathy hypogonadism
 * Moebius syndrome
 * Moerman Van den berghe Fryns syndrome
 * Moeschler Clarren syndrome
 * Mohr syndrome
 * Mohr-Tranebjaerg syndrome
 * Mollica Pavone Antener syndrome
 * Moloney syndrome
 * Molybdenum cofactor deficiency
 * MOMO syndrome
 * Mondini Dysplasia
 * Mondor's disease
 * Monilethrix
 * Monoamine oxidase A deficiency
 * Monoclonal gammopathy of undetermined significance
 * Monodactyly tetramelic
 * Mononen Karnes Senac syndrome
 * Mononeuritis multiplex
 * Monosomy 8q12 21
 * Monosomy 8q21 q22
 * Monosomy X
 * Montefiore syndrome
 * Moore Federman syndrome
 * Moore Smith Weaver syndrome
 * Morel's ear
 * Moreno Zachai Kaufman syndrome
 * Morgani Turner Albright syndrome
 * Morhosseini Holmes Walton syndrome
 * Morillo Cucci Passarge syndrome
 * Morphea Scleroderma
 * Morphea, generalized
 * Morquio disease, type A
 * Morquio disease, type B
 * Morquio syndrome
 * Morrison Young syndrome
 * Morse Rawnsley Sargent syndrome
 * Motor neuron disease
 * Motor neuro-ophthalmic disorders
 * Motor neuropathy peripheral dysautonomia
 * Motor neuropathy
 * Motor sensory neuropathy type 1 aplasia cutis congenita
 * Motorphobia
 * Mounier-Kuhn syndrome
 * Mount Reback syndrome
 * Mousa Al din Al Nassar syndrome
 * Moyamoya disease
 * MPO deficiency
 * MPS III-A
 * MPS III-B
 * MPS III-C
 * MPS III-D
 * MPS VI
 * MR
 * MRKH Syndrome
 * MSBD syndrome
 * MTHFR deficiency
 * Mucha-Habermann disease
 * Muckle-wells syndrome
 * Mucoepithelial dysplasia
 * Mucolipidosis type 1
 * Mucolipidosis type 3
 * Mucolipidosis type 4
 * Mucopolysaccharidosis type 3
 * Mucopolysaccharidosis type 4
 * Mucopolysaccharidosis type I Hurler syndrome
 * Mucopolysaccharidosis type I Hurler/Scheie syndrome
 * Mucopolysaccharidosis type I Scheie syndrome
 * Mucopolysaccharidosis type II Hunter syndrome- mild form
 * Mucopolysaccharidosis type II Hunter syndrome- severe form
 * Mucopolysaccharidosis type IV-A Morquio syndrome
 * Mucopolysaccharidosis type IV-B
 * Mucopolysaccharidosis type V
 * Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate
 * Mucopolysaccharidosis type VII Sly syndrome
 * Mucopolysaccharidosis
 * Mucosulfatidosis
 * Muenke Syndrome
 * Mulibrey Nanism syndrome
 * Muller Barth Menger syndrome
 * Mullerian agenesis
 * Mullerian aplasia
 * Mullerian derivatives lymphangiectasia polydactyly
 * Mullerian derivatives, persistent
 * Mullerian duct abnormalities galactosemia
 * Mulliez Roux Loterman syndrome
 * Multicentric osteolysis nephropathy
 * Multicentric reticulohistiocytosis
 * Multifocal heterotopia
 * Multifocal motor neuropathy with conduction block
 * Multifocal ventricular premature beats
 * Multinodular goiter cystic kidney polydactyly
 * Multiple acyl-CoA deficiency
 * Multiple carboxylase deficiency, biotin responsive
 * Multiple carboxylase deficiency, late onset
 * Multiple carboxylase deficiency, propionic acidemia
 * Multiple chemical sensitivity
 * Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
 * Multiple congenital contractures
 * Multiple contracture syndrome Finnish type
 * Multiple endocrine neoplasia type 1
 * Multiple endocrine neoplasia, type 2
 * Multiple fibrofolliculoma familial
 * Multiple hereditary exostoses
 * Multiple joint dislocations metaphyseal dysplasia
 * Multiple myeloma
 * Multiple organ failure
 * Multiple pterygium syndrome lethal type
 * Multiple pterygium syndrome
 * Multiple sclerosis ichthyosis factor VIII deficiency
 * Multiple sclerosis
 * Multiple subcutaneous angiolipomas
 * Multiple sulfatase deficiency
 * Multiple synostoses syndrome 1
 * Multiple system atrophy
 * Multiple vertebral anomalies unusual facies
 * Mumps
 * Munchausen by proxy syndrome
 * Muscle-eye-brain syndrome
 * Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus
 * Muscular dystrophy congenital infantile cataract hypogonadism
 * Muscular dystrophy congenital, merosin negative
 * Muscular dystrophy facioscapulohumeral
 * Muscular dystrophy Hutterite type
 * Muscular dystrophy limb girdle type 2A, Erb type
 * Muscular dystrophy limb-girdle autosomal dominant
 * Muscular dystrophy limb-girdle type 2B, Myoshi type
 * Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
 * Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
 * Muscular dystrophy white matter spongiosis
 * Muscular dystrophy, congenital, merosin-positive
 * Muscular dystrophy, Duchenne and Becker type
 * Muscular dystrophy
 * Muscular fibrosis multifocal obstructed vessels
 * Muscular phosphorylase kinase deficiency
 * Mutations in estradiol receptor
 * Myalgia eosinophilia associated with tryptophan
 * Myalgic encephalomyelitis
 * Myasthenia gravis congenital
 * Myasthenia gravis
 * Myasthenia, familial
 * Mycetoma
 * Mycobacterium avium complex infection
 * Mycophobia
 * Mycoplasmal pneumonia
 * Mycosis fungoides lymphoma
 * Mycosis fungoides, familial
 * Mycosis fungoides
 * Mycositis fungoides
 * Myelinopathies
 * Myelitis
 * Myelocerebellar disorder
 * Myelodysplasia
 * Myelodysplastic syndromes
 * Myelofibrosis, idiopathic
 * Myelofibrosis
 * Myelofibrosis-osteosclerosis
 * Myeloid splenomegaly
 * Myeloperoxidase deficiency
 * Myhre Ruvalcaba Graham syndrome
 * Myhre Ruvalcaba Kelley syndrome
 * Myhre School syndrome
 * Myhre syndrome
 * Myoadenylate deaminase deficiency
 * Myocarditis
 * Myocardium disorder
 * Myoclonic dystonia
 * Myoclonic progressive familial epilepsy
 * Myoclonus ataxia
 * Myoclonus cerebellar ataxia deafness
 * Myoclonus epilepsy partial seizure
 * Myoclonus epilepsy
 * Myoclonus hereditary progressive distal muscular atrophy
 * Myoclonus progressive epilepsy of Unverricht and Lundborg
 * Myoclonus with epilepsy with ragged red fibers (mitochondria)
 * Myoclonus
 * Myofibrillar lysis
 * Myofibroblastic tumors
 * Myoglobinuria dominant form
 * Myoglobinuria recurrent
 * Myoglobinuria
 * Myoneurogastrointestinal encephalopathy syndrome
 * Myopathy and diabetes mellitus
 * Myopathy cataract hypogonadism
 * Myopathy congenital multicore with external ophthalmoplegia
 * Myopathy growth and mental retardation hypospadias
 * Myopathy Hutterite type
 * Myopathy mitochondrial cataract
 * Myopathy Moebius Robin syndrome
 * Myopathy ophthalmoplegia hypoacousia areflexia
 * Myopathy tubular aggregates
 * Myopathy with lactic acidosis and sideroblastic anemia
 * Myopathy with lysis of myofibrils
 * Myopathy, centronuclear
 * Myopathy, desmin storage
 * Myopathy, McArdle type
 * Myopathy, myotubular
 * Myopathy, X-linked, with excessive autophagy
 * Myopathy
 * Myophosphorylase deficiency
 * Myopia, infantile severe
 * Myopia, severe
 * Myositis ossificans post-traumatic
 * Myositis ossificans progressiva
 * Myositis ossificans
 * Myositis, inclusion body
 * Myositis
 * Myotonia atrophica
 * Myotonia mental retardation skeletal anomalies
 * Myotubular myopathy
 * Myxedema
 * Myxoid liposarcoma
 * Myxoma-spotty pigmentation-endocrine overactivity
 * Myxomatous peritonitis
 * Myxozoa

N

 * N acetyltransferase deficiency
 * N syndrome
 * N-acetyl glutamate synthetase deficiency
 * N-acetyl-alpha-D-galactosaminidase
 * N-acetyl-glucosamine-6-sulfate sulfatase deficiency
 * NADH CoQ reductase, deficiency of
 * NADH cytochrome B5 reductase deficiency
 * Naegeli syndrome
 * Naguib syndrome
 * Nail-patella syndrome
 * Nakajo Nishimura syndrome
 * Nakajo syndrome
 * Nakamura Osame syndrome
 * NAME syndrome
 * Nance-Horan syndrome
 * Nanism due to growth hormone combined deficiency
 * Nanism due to growth hormone isolated deficiency with X linked hypogammaglobulinemia
 * Nanism due to growth hormone resistance
 * Narcolepsy
 * Narcolepsy-Cataplexy
 * Narrow oral fissure short stature cone shaped epiphyses
 * Nasodigitoacoustic syndrome
 * Nasopalpebral lipoma coloboma syndrome
 * Nasopharyngeal carcinoma
 * Nasopharyngeal teratoma Dandy Walker diaphragmatic hernia
 * Natal teeth intestinal pseudoobstruction patent ductus
 * Nathalie syndrome
 * Native american myopathy
 * Navajo poikiloderma
 * Necrophobia
 * Necrotizing encephalopathy, infantile subacute
 * Negative rheumatoid factor polyarthritis
 * Neisseria meningitidis
 * Nelson syndrome
 * Nemaline myopathy 1, Autosomal Dominant
 * Nemaline Myopathy 2, Autosomal Recessive
 * Nemaline Myopathy, Amish Type
 * Neonatal hemochromatosis
 * Neonatal hepatitis
 * Neonatal herpes
 * Neonatal ovarian cyst
 * Neonatal transient jaundice
 * Neopharmaphobia
 * Neophobia
 * Nephophobia
 * Nephroblastomatosis,fetal ascites,macrosomia and Wilm's tumor
 * Nephrocalcinosis
 * Nephrogenic diabetes insipidus
 * Nephrolithiasis type 2
 * Nephronophthisis familial adult spastic quadriparesis
 * Nephropathy deafness hyperparathyroidism
 * Nephropathy familial with hyperuricemia
 * Nephropathy, familial with gout
 * Nephrosclerosis
 * Nephrosis deafness urinary tract digital malformation
 * Nephrosis neuronal dysmigration syndrome
 * Nephrotic syndrome ocular anomalies
 * Nephrotic syndrome, idiopathic, steroid-resistant
 * Nerve sheath neoplasm
 * Nesidioblastosis of pancreas
 * Netherton syndrome ichthyosis
 * Neu Laxova syndrome
 * Neuhauser Daly Magnelli syndrome
 * Neuhauser Eichner Opitz syndrome
 * Neural crest tumor
 * Neural tube defect, folate-sensitive
 * Neural tube defects X linked
 * Neuraminidase beta-galactosidase deficiency
 * Neuraminidase deficiency
 * Neurasthenia
 * Neurilemmomatosis
 * Neuritis with brachial predilection
 * Neuroacanthocytosis
 * Neuroaxonal dystrophy renal tubular acidosis
 * Neuroaxonal dystrophy, late infantile
 * Neuroblastoma
 * Neurocutaneous melanosis
 * Neuroectodermal endocrine syndrome
 * Neuroectodermal tumors primitive
 * Neuroendocrine cancer
 * Neuroendocrine carcinoma of the cervix
 * Neuroendocrine tumor
 * Neuroepithelioma
 * Neurofaciodigitorenal syndrome
 * Neurofibrillary tangles
 * Neurofibroma
 * Neurofibromatosis type 2
 * Neurofibromatosis type 3
 * Neurofibromatosis type 6
 * Neurofibromatosis, familial intestinal
 * Neurofibromatosis, Type IV, of Riccardi
 * Neurofibromatosis-Noonan syndrome
 * Neurofibrosarcoma
 * Neurogenic hypertension
 * Neuroleptic malignant syndrome
 * Neuroma biliary tract
 * Neuronal heterotopia
 * Neuronal interstitial dysplasia
 * Neuronal intestinal pseudoobstruction
 * Neuronal intranuclear hyaline inclusion disease
 * Neuronal intranuclear inclusion disease
 * Neuropathy ataxia and retinis pigmentosa
 * Neuropathy congenital sensory neurotrophic keratitis
 * Neuropathy hereditary with liability to pressure palsies
 * Neuropathy motor sensory type 2 deafness mental retardation
 * Neuropathy sensory spastic paraplegia
 * Neuropathy, hereditary motor and sensory, LOM type
 * Neuropathy, hereditary sensory, type I
 * Neuropathy, hereditary sensory, type II
 * Neurotoxicity syndromes
 * Neutral lipid storage myopathy
 * Neutropenia intermittent
 * Neutropenia monocytopenia deafness
 * Neutropenia, severe chronic
 * Nevi flammei, familial multiple
 * Nevo syndrome
 * Nevoid basal cell carcinoma syndrome
 * Nevus of ota retinitis pigmentosa
 * Nevus sebaceus of Jadassohn
 * Nezelof's syndrome
 * Nicolaides Baraitser syndrome
 * Niemann-Pick C1 disease
 * Niemann-Pick C2 disease
 * Niemann-Pick disease type C
 * Niemann-Pick disease type D
 * Niemann-Pick Disease
 * Night blindness skeletal anomalies unusual facies
 * Night blindness, congenital stationary
 * Nijmegen Breakage Syndrome
 * Nivelon Nivelon Mabille syndrome
 * Noble Bass Sherman syndrome
 * Nocardiosis
 * Noise induced deafness
 * Noma
 * Non functioning pancreatic endocrine tumor
 * Nonallergic atopic dermatitis
 * Non-Hodgkin lymphoma
 * Noninsulin-dependent diabetes mellitus with deafness
 * Nonketotic hyperglycinemia
 * Non-lissencephalic cortical dysplasia
 * Nonmedullary thyroid carcinoma, with cell oxyphilia
 * Nonne-Milroy disease
 * Non-small cell lung cancer
 * Nonsyndromic hereditary hearing impairment
 * Noonan like syndrome
 * Noonan syndrome
 * Norman Roberts lissencephaly syndrome
 * Normokalemic periodic paralysis
 * Norrie disease
 * Northern epilepsy
 * Norum disease
 * Nose polyposis, familial
 * Nosocomephobia
 * Notalgia paresthetica
 * Nova syndrome
 * Novak syndrome
 * Nuchal bleb, familial
 * Nut Hypersensitivity
 * Nyctophobia

O

 * O Doherty syndrome
 * O Donnell Pappas syndrome
 * Obesity
 * Obesophobia
 * Obsessive-compulsive disorder
 * Obstructive asymmetric septal hypertrophy
 * Occipital horn syndrome
 * Occlusive Infantile ateriopathy
 * Occult spinal dysraphism
 * Occupational Asthma - Chemicals
 * Occupational Asthma - Metals
 * Occupational Asthma - Plants
 * Occupational Asthma - Wood dust
 * Occupational Asthma-Drugs
 * OCD
 * Ochoa syndrome
 * Ochronosis, hereditary
 * Ochronosis
 * Ocular Albinism
 * Ocular coloboma-imperforate anus
 * Ocular convergence spasm
 * Ocular Histoplasmosis
 * Ocular melanoma
 * Ocular motility disorders
 * Ocular toxoplasmosis
 * Oculo cerebral dysplasia
 * Oculo cerebro acral syndrome
 * Oculo cerebro osseous syndrome
 * Oculo dento digital dysplasia
 * Oculo digital syndrome
 * Oculo facio cardio dental syndrome
 * Oculo skeletal renal syndrome
 * Oculo tricho anal syndrome
 * Oculo tricho dysplasia
 * Oculoauriculofrontonasal syndrome
 * Oculoauriculovertebral dysplasia
 * Oculocerebral hypopigmentation syndrome Cross type
 * Oculocerebral hypopigmentation syndrome type Preus
 * Oculocerebral syndrome with hypopigmentation
 * Oculocerebrocutaneous syndrome
 * Oculocerebrorenal syndrome
 * Oculocutaneous albinism immunodeficiency
 * Oculocutaneous albinism type 1
 * Oculocutaneous albinism type 2
 * Oculocutaneous albinism type 3
 * Oculocutaneous albinism, tyrosinase negative
 * Oculocutaneous albinism, tyrosinase positive
 * Oculocutaneous tyrosinemia
 * Oculodental syndrome Rutherfurd syndrome
 * Oculodentodigital dysplasia dominant
 * Oculodentodigital syndrome
 * Oculo-dento-digital syndrome
 * Oculodentoosseous dysplasia dominant
 * Oculodentoosseous dysplasia recessive
 * Oculodigitoesophagoduodenal syndrome
 * Oculo-gastrointestinal muscular dystrophy
 * Oculomaxillofacial dysostosis
 * Oculomaxillofacial dysplasia with oblique facial clefts
 * Oculomelic amyoplasia
 * Oculopalatoskeletal syndrome
 * Oculopharnygeal muscular dystrophy
 * Oculorenocerebellar syndrome
 * Odonto onycho dysplasia with alopecia
 * Odontoma
 * Odontomicronychial dysplasia
 * Odontoonychodermal dysplasia
 * Odontophobia
 * Odontotrichomelic hypohidrotic dysplasia
 * Odynophobia
 * OFD syndrome type 8
 * OFD syndrome type Figuera
 * Ogilvie's syndrome
 * Ohaha syndrome
 * Ohdo Madokoro Sonoda syndrome
 * Oikophobia
 * Okamuto Satomura syndrome
 * Olfactophobia
 * Oligodactyly tetramelic postaxial
 * Oligomeganephronic renal hypoplasia
 * Oligomeganephrony
 * Oligophernia
 * Oliver McFarlane syndrome
 * Oliver syndrome
 * Olivopontocerebellar atrophy deafness
 * Olivopontocerebellar atrophy type 1
 * Olivopontocerebellar atrophy type 2
 * Olivopontocerebellar atrophy type 3
 * Olivopontocerebellar atrophy
 * Ollier disease
 * Olmsted syndrome
 * Ombrophobia
 * Omenn syndrome
 * Omodysplasia type 1
 * Omphalocele cleft palate syndrome lethal
 * Omphalocele exstrophy imperforate anus
 * Omphalomesenteric cyst
 * Omsk hemorrhagic fever
 * Onat syndrome
 * Onchocerciasis
 * Oncocytoma
 * Ondine's curse
 * Oneirophobia
 * Onychonychia hypoplastic distal phalanges
 * Onychotrichodysplasia and neutropenia
 * Ophthalmophobia
 * Opitz Mollica Sorge syndrome
 * Opitz Reynolds Fitzgerald syndrome
 * Opitz syndrome
 * Opportunistic infections
 * Oppositional defiant disorder
 * Opsismodysplasia
 * Opthalmic icthyosis
 * Opthalmo acromelic syndrome
 * Opthalmomandibulomelic dysplasia
 * Opthalmoplegia ataxia hypoacusis
 * Opthalmoplegia mental retardation lingua scrotalis
 * Opthalmoplegia myalgia tubular aggregates
 * Opthalmoplegia progressive external scoliosis
 * Optic atrophy opthalmoplegia ptosis deafness myopia
 * Optic atrophy polyneuropathy deafness
 * Optic atrophy, autosomal dominant
 * Optic atrophy, idiopathic, autosomal recessive
 * Optic atrophy
 * Optic nerve coloboma with renal disease
 * Optic nerve disorder
 * Optic nerve hypoplasia, familial bilateral
 * Optic neuritis
 * Optic pathway glioma
 * Opticoacoustic nerve atrophy dementia
 * Oral facial digital syndrome type 3
 * Oral facial digital syndrome type 4
 * Oral facial digital syndrome
 * Oral facial dyskinesia
 * Oral leukoplakia
 * Oral lichen planus
 * Oral lichenoid lesions
 * Oral squamous cell carcinoma
 * Oral submucous fibrosis
 * Oral-facial cleft
 * Oral-facial-digital syndrome, type IV
 * Oral-facial-digital syndrome
 * Oral-pharyngeal disorders
 * Organic brain syndrome
 * Organic mood syndrome
 * Organic personality syndrome
 * Ornithine aminotransferase deficiency
 * Ornithine carbamoyl phosphate deficiency
 * Ornithine transcarbamylase deficiency, hyperammonemia due to
 * Ornithinemia
 * Oro acral syndrome
 * Orofaciodigital syndrome Gabrielli type
 * Orofaciodigital syndrome Shashi type
 * Orofaciodigital syndrome Thurston type
 * Orofaciodigital syndrome type 2
 * Orofaciodigital syndrome type1
 * Orotic aciduria hereditary
 * Orotic aciduria purines-pyrimidines
 * Orotidylic decarboxylase deficiency
 * Orstavik Lindemann Solberg syndrome
 * Orthostatic intolerance
 * Osebold Remondini syndrome
 * OSLAM syndrome
 * OSMED syndrome
 * Ossicular Malformations, familial
 * Osteitis deformans
 * Osteoarthritis
 * Osteoarthropathy of fingers familial
 * Osteochondritis deformans juvenile
 * Osteochondritis dissecans
 * Osteochondritis
 * Osteochondrodysplasia thrombocytopenia hydrocephalus
 * Osteochondroma
 * Osteocraniostenosis
 * Osteodysplasia familial Anderson type
 * Osteodysplastic dwarfism Corsello type
 * Osteoectasia familial
 * Osteogenesis imperfecta congenita microcephaly and cataracts
 * Osteogenesis imperfecta congenital joint contractures
 * Osteogenesis imperfecta retinopathy
 * Osteogenic sarcoma
 * Osteoglophonic dwarfism
 * Osteolysis hereditary multicentric
 * Osteolysis syndrome recessive
 * Osteomalacia
 * osteomyelitis
 * Osteonecrosis
 * Osteopathia condensans disseminata with osteopoikilosis
 * Osteopathia striata cranial sclerosis
 * Osteopathia striata pigmentary dermopathy white forelock
 * Osteopetrosis autosomal dominant type 1
 * Osteopetrosis lethal
 * Osteopetrosis renal tubular acidosis
 * Osteopetrosis, (generic term)
 * Osteopetrosis, malignant
 * Osteopetrosis, mild autosomal recessive form
 * Osteopoikilosis
 * Osteoporosis macrocephaly mental retardation blindness
 * Osteoporosis oculocutaneous hypopigmentation syndrome
 * Osteoporosis pseudoglioma syndrome
 * osteoporosis
 * Osteosarcoma limb anomalies erythroid macrocytosis
 * Osteosclerose type Stanescu
 * Osteosclerosis abnormalities of nervous system and meninges
 * Osteosclerosis autosomal dominant Worth type
 * Osteosclerosis
 * Ostertag type amyloidosis
 * Ota Kawamura Ito syndrome
 * Oto palato digital syndrome type I and II
 * Otodental dysplasia
 * Otofaciocervical syndrome
 * Otoonychoperoneal syndrome
 * Oto-Palatal-digital syndrome
 * Otopalatodigital syndrome type 2
 * Otosclerosis, familial
 * otosclerosis
 * Otospondylomegaepiphyseal dysplasia
 * Ouvrier Billson syndrome
 * Ovarian cancer
 * Ovarian carcinosarcoma
 * Ovarian dwarfism as part of Turner Syndrome
 * Ovarian dwarfism
 * Ovarian insufficiency due to FSH resistance
 * ovarian remnant syndrome
 * Overfolded helix
 * Overgrowth radial ray defect arthrogryposis
 * Overgrowth syndrome type Fryer
 * Overhydrated hereditary stomatocytosis
 * Oxalosis

P

 * Pachydermoperiostosis
 * Pachygyria
 * Pachyonychia congenita Jackson Lawler type
 * Pacman syndrome
 * Paes Whelan Modi syndrome
 * Paget disease extramammary
 * Paget disease juvenile type
 * Paget's disease of the breast
 * Paget's disease, type 1
 * Pagon Bird Detter syndrome
 * Pagon Stephan syndrome
 * Pai Levkoff syndrome
 * Palant cleft palate syndrome
 * Palindromic rheumatism
 * Pallister-Hall syndrome
 * Pallister-Killian syndrome
 * Palmer Pagon syndrome
 * Palmitoyl-protein thioesterase deficiency
 * Palmoplantar Keratoderma
 * Palmoplantar porokeratosis of Mantoux
 * Palsy cerebral
 * Pancreas agenesis
 * Pancreatic adenoma
 * Pancreatic beta cell agenesis with neonatal diabetes mellitus
 * Pancreatic cancer
 * Pancreatic carcinoma, familial
 * Pancreatic diseases
 * Pancreatic islet cell neoplasm
 * Pancreatic islet cell tumors
 * Pancreatic lipomatosis duodenal stenosis
 * Pancreatitis, hereditary
 * Pancreatoblastoma
 * PANDAS
 * Panhypopituitarism
 * Panic disorder
 * Panmyelophthisis aplastic anemia
 * Panniculitis
 * Panophobia
 * Panostotic fibrous dysplasia
 * Panthophobia
 * Papilledema
 * Papillion-Lefevre syndrome
 * Papillitis
 * Papilloma of choroid plexus
 * Papular mucinosis
 * Papular urticaria
 * Paracoccidioidomycosis
 * Paraganglioma
 * Parainfluenza virus type 3 antenatal infection
 * Paramyotonia congenita of Von Eulenburg
 * Paramyotonia congenita
 * Paraneoplastic cerebellar degeneration
 * Paraomphalocele
 * Paraparesis amyotrophy of hands and feet
 * Paraplegia
 * Paraplegia-brachydactyly-cone shaped epiphysis
 * Paraplegia-mental retardation-hyperkeratosis
 * Parapsoriasis
 * Parasitophobia
 * Parastremmatic dwarfism
 * Parathyroid cancer
 * Parathyroid neoplasm
 * PARC syndrome
 * Parenchymatous cortical degeneration of cerebellum
 * Paris-Trousseau thrombopenia
 * Parkes-Weber syndrome
 * Parkinson dementia Steele type
 * Parkinsonism early onset mental retardation
 * Parkinsonism
 * Parkinson's disease
 * Paroxysmal cold hemoglobinuria
 * Paroxysmal dystonic choreoathetosis
 * Paroxysmal nocturnal hemoglobinuria
 * Paroxysmal ventricular fibrillation
 * Parry-Romberg syndrome
 * Pars planitis
 * Parsonage Turner syndrome
 * Partial agenesis of corpus callosum
 * Partial atrioventricular canal
 * Partial deletion of Y
 * Partial gigantism in context of NF
 * Partial lissencephaly
 * Partington Anderson syndrome
 * Partington Mulley syndrome
 * Parturiphobia
 * Parvovirus antenatal infection
 * Pascuel Castroviejo syndrome
 * Pashayan syndrome
 * Pat1
 * Pat11
 * Pat111
 * Pat12
 * Pat121
 * Pat13
 * Pat131
 * Pat132
 * Pat14
 * Pat141
 * Pat142
 * Patau syndrome
 * Patel Bixler syndrome
 * Patella aplasia, coxa vara, tarsal synostosis
 * Patella hypoplasia mental retardation
 * Patent ductus arteriosus familial
 * Patent ductus arteriosus
 * Pathophobia
 * Patterson Lowry syndrome
 * Patterson pseudoleprechaunism syndrome
 * Patterson Stevenson syndrome
 * Pauciarticular chronic arthritis
 * Pavone Fiumara Rizzo syndrome
 * Peanut Hypersensitivity
 * Pearson's marrow/pancreas syndrome
 * Pediatric T-cell leukemia
 * Peeling skin syndrome ichthyosis
 * PEHO syndrome
 * Pelizaeus-Merzbacher brain sclerosis
 * Pelizaeus-Merzbacher disease, recessive, acute infantile
 * Pelizaeus-Merzbacher disease
 * Pelizaeus-Merzbacher leukodystrophy
 * Pellagra like syndrome
 * Pellagrophobia
 * Pelvic dysplasia arthrogryposis of lower limbs
 * Pelvic lipomatosis
 * Pelvic shoulder dysplasia
 * Pemphigus and fogo selvagem
 * Pemphigus foliaceus
 * Pemphigus vulgaris, familial
 * Pemphigus vulgaris
 * Pemphigus
 * Pena Shokeir syndrome
 * Pendred syndrome
 * Penis agenesia
 * Penoscrotal transposition
 * Penta X syndrome
 * Pentalogy of Cantrell
 * Pentosuria
 * Penttinen-Aula syndrome
 * PEPCK 1 deficiency
 * PEPCK 2 deficiency
 * PEPCK deficiency, mitochondrial
 * Peptidic growth factors deficiency
 * Periarteritis nodosa
 * Pericardial constriction growth failure
 * Pericardial defect diaphragmatic hernia
 * Pericardium absent mental retardation short stature
 * Pericardium congenital anomaly
 * Perilymphatic fistula
 * Perimyositis
 * Perinatal infections
 * Periodic disease
 * Periodic fever, aphthous stomatitis, pharyngitis and adenitis
 * Periodontitis
 * Peripartum cardiomyopathy
 * Peripheral blood vessel disorder
 * Peripheral nervous disorder
 * Peripheral neuroectodermal tumor
 * Peripheral neuropathy
 * Peripheral T-cell lymphoma
 * Peripheral type neurofibromatosis
 * Perisylvian syndrome
 * Periventricular laminar heterotopia
 * Pernicious anemia
 * Perniola Krajewska Carnevale syndrome
 * Perniosis
 * Peroxisomal Bifunctional Enzyme Deficiency
 * Peroxisomal defects
 * Persistent Mullerian duct syndrome (PMDS)
 * Persistent parvovirus infection
 * Persistent truncus arteriosus
 * Pertussis
 * Pes planus
 * Peters anomaly with cataract
 * Peters anomaly
 * Peters congenital glaucoma
 * Petit Fryns syndrome
 * Petty Laxova Wiedemann syndrome
 * Peutz-Jeghers syndrome
 * Peyronie disease
 * Pfeiffer cardiocranial syndrome
 * Pfeiffer Hirschfelder Rott syndrome
 * Pfeiffer Kapferer syndrome
 * Pfeiffer Mayer syndrome
 * Pfeiffer Palm Teller syndrome
 * Pfeiffer Rockelein syndrome
 * Pfeiffer Singer Zschiesche syndrome
 * Pfeiffer syndrome
 * Pfeiffer Tietze Welte syndrome
 * Pfeiffer type acrocephalosyndactyly
 * PHACE association
 * Phacomatosis fourth
 * Phacomatosis pigmentokeratotica
 * Phacomatosis pigmentovascularis
 * Phalacrophobia
 * Pharmacophobia
 * Phenobarbital antenatal infection
 * Phenobarbital embryopathy
 * Phenol sulfotransferase deficiency
 * Phenothiazine antenatal infection
 * Phenylalanine hydroxylase deficiency
 * Phenylalaninemia
 * Phenylketonuria type II
 * Phenylketonuria
 * Phenylketonurias
 * Phenylketonuric embryopathy
 * Pheochromocytoma as part of NF
 * Pheochromocytoma
 * Philadelphia-negative chronic myeloid leukemia
 * Phocomelia contractures absent thumb
 * Phocomelia ectrodactyly deafness sinus arrhythmia
 * Phocomelia Schinzel type
 * Phocomelia syndrome
 * Phocomelia thrombocytopenia encephalocele
 * Phosphate diabetes
 * Phosphoenolpyruvate carboxykinase 1 deficiency
 * Phosphoenolpyruvate carboxykinase 2 deficiency
 * Phosphoenolpyruvate carboxykinase deficiency
 * Phosphoglucomutase deficiency type 1
 * Phosphoglucomutase deficiency type 2
 * Phosphoglucomutase deficiency type 3
 * Phosphoglucomutase deficiency type 4
 * Phosphoglucomutase deficiency
 * Phosphoglycerate kinase 1 deficiency
 * Phosphoglycerate kinase deficiency
 * Phosphomannoisomerase deficiency
 * Phosphoribosylpyrophosphate synthetase deficiency
 * Photoaugliaphobia
 * Photosensitive epilepsy
 * Phthiriophobia
 * Physical urticaria
 * Phytanic acid oxidase deficiency
 * PIBIDS syndrome
 * Pica
 * Picardi-Lassueur-Little syndrome
 * Pick disease of the brain
 * Pie Torcido
 * Piebald trait neurologic defects
 * Piebaldism
 * Piepkorn Karp Hickoc syndrome
 * Pierre Marie cerbellar ataxia
 * Pierre Robin sequence congenital heart defect talipes
 * Pierre Robin sequence faciodigital anomaly
 * Pierre Robin syndrome fetal chondrodysplasia
 * Pierre Robin syndrome hyperphalangy clinodactyly
 * Pierre Robin syndrome skeletal dysplasia polydactyly
 * Pierre Robin's sequence
 * Pigmentary retinopathy
 * Pigment-dispersion syndrome
 * Pigmented villonodular synovitis
 * Pignata guarino syndrome
 * Pili canulati
 * Pili multigemini
 * Pili torti developmental delay neurological abnormalities
 * Pili torti nerve deafness
 * Pili torti onychodysplasia
 * Pili torti
 * Pillay syndrome
 * Pilo dento ungular dysplasia microcephaly
 * Pilotto syndrome
 * Pinealoma
 * Pinheiro Freire Maia Miranda syndrome
 * Pinsky Di George Harley syndrome
 * Pinta
 * Pipecolic acidemia
 * PIRA
 * Pitt Hopkins syndrome
 * Pitt-Rogers-Danks syndrome
 * Pituitary dwarfism 1
 * Pityriasis lichenoides chronica
 * Pityriasis rubra pilaris
 * Piussan Lenaerts Mathieu syndrome
 * Placenta disorder
 * Placenta neoplasm
 * Plagiocephaly X linked mental retardation
 * Plasmacytoma anaplastic
 * Plasmalogenes synthesis deficiency isolated
 * Plasminogen activitor inhibitor type 1 deficiency, congenital
 * Plasminogen deficiency, congenital
 * Platelet disorder
 * Platyspondylic lethal chondrodysplasia
 * Platyspondyly amelogenesis imperfecta
 * Plexosarcoma
 * Plum syndrome
 * Plummer-Vinson syndrome
 * Pneumoconiosis
 * Pneumocystic carinii pneumonia
 * Pneumocystis carinii Pneumonia
 * Pneumocystosis
 * Pneumonia, eosinophilic
 * Podder-Tolmie syndrome
 * POEMS syndrome
 * Poikiloderma congenital with bullae Weary type
 * Poikiloderma hereditary acrokeratotic Weary type
 * Poikiloderma of Kindler
 * Poikiloderma of Rothmund-Thomson
 * Poikilodermatomyositis mental retardation
 * Poikilodermia alopecia retrognathism cleft palate
 * Pointer syndrome
 * Poland syndrome
 * Poliomyelitis
 * Poliosophobia
 * Polyarteritis nodosa
 * Polyarteritis
 * Polyarthritis, systemic
 * Polyarthritis
 * Polychondritis
 * Polycystic kidney disease, adult type
 * Polycystic kidney disease, infantile type
 * Polycystic kidney disease, infantile, type I
 * Polycystic kidney disease, recessive type
 * Polycystic kidney disease, type 1
 * Polycystic kidney disease, type 2
 * Polycystic kidney disease, type 3
 * Polycystic kidney disease
 * Polycystic ovarian disease, familial
 * Polycystic ovarian syndrome
 * Polycystic ovaries urethral sphincter dysfunction
 * Polycythemia vera
 * Polydactyly alopecia seborrheic dermatitis
 * Polydactyly cleft lip palate psychomotor retardation
 * Polydactyly myopia syndrome
 * Polydactyly postaxial dental and vertebral
 * Polydactyly postaxial with median cleft of upper lip
 * Polydactyly postaxial
 * Polydactyly preaxial type 1
 * Polydactyly syndrome middle ray duplication
 * Polydactyly visceral anomalies cleft lip palate
 * Polydactyly
 * Polyglucosan body disease, adult
 * Polymicrogyria turricephaly hypogenitalism
 * Polymorphic catecholergic ventricular tachycardia
 * Polymorphic macular degeneration
 * Polymorphous low-grade adenocarcinoma
 * Polymyalgia rheumatica
 * Polymyositis
 * Polyneuritis
 * Polyneuropathy hand defect
 * Polyneuropathy mental retardation acromicria prema
 * Polyomavirus Infections
 * Polyostotic fibrous dysplasia
 * Polyposis hamartomatous intestinal
 * Polyposis skin pigmentation alopecia fingernail changes
 * Polysyndactyly cardiac malformation
 * Polysyndactyly microcephaly ptosis
 * Polysyndactyly orofacial anomalies
 * Polysyndactyly overgrowth syndrome
 * Polysyndactyly trigonocephaly agenesis of corpus callosum
 * Polysyndactyly type 4
 * Polysyndactyly type Haas
 * Poncet-Spiegler's cylindroma
 * Pontoneocerebellar Hypoplasia
 * Popliteal pterygium syndrome lethal type
 * Popliteal pterygium syndrome
 * Porencephaly cerebellar hypoplasia malformations
 * Porencephaly
 * Porokeratosis of Mibelli
 * Porokeratosis plantaris palmaris et disseminata
 * Porokeratosis punctata palmaris et plantaris
 * Porphyria cutanea tarda, familial type
 * Porphyria cutanea tarda, sporadic type
 * Porphyria cutanea tarda
 * Porphyria, acute intermittent
 * Porphyria, Ala-D
 * Porphyria, congenital erythropoietic
 * Porphyria, hereditary coproporphyria
 * Porphyria
 * Portal hypertension due to infrahepatic block
 * Portal hypertension
 * Portal thrombosis
 * Portal vein thrombosis
 * Portuguese type amyloidosis
 * Positive rheumatoid factor polyarthritis
 * Post Polio syndrome
 * Post Traumatic Stress disorder (PTSD)
 * Post Traumatic Stress disorder
 * Postaxial polydactyly mental retardation
 * Posterior tibial tendon rupture
 * Posterior urethral valves
 * Posterior uveitis
 * Posterior valve urethra
 * Post-infectious myocarditis
 * Post-traumatic epilepsy
 * Postural hypotension
 * Potassium aggravated myotonia
 * Potassium deficiency
 * Potophobia
 * Potter disease type 1
 * Potter disease, type 3
 * Potter sequence cleft cardiopathy
 * Potter syndrome dominant type
 * Powell Buist Stenzel syndrome
 * Powell Chandra Saal syndrome
 * Powell Venencie Gordon syndrome
 * Poxviridae disease
 * Prader-Willi syndrome
 * Prata Liberal Goncalves syndrome
 * Preaxial deficiency postaxial polydactyly hypospadia
 * Preaxial polydactyly colobomata mental retardation
 * Precocious epileptic encephalopathy
 * Precocious myoclonic encephalopathy
 * Precocious puberty, gonadotropin-dependant
 * Precocious puberty, male limited
 * Precocious puberty
 * Preeclampsia
 * Preeyasombat Viravithya syndrome
 * Pregnancy toxemia /hypertension
 * Prekallikrein deficiency, congenital
 * Premature aging, Okamoto type
 * Premature aging
 * Premature atherosclerosis photomyoclonic epilepsy
 * Premature menopause, familial
 * Premature ovarian failure
 * Premenstrual Dysphoric Disorder
 * Prenatal infections
 * Presbycusis
 * Prieto Badia Mulas syndrome
 * Prieur Griscelli syndrome
 * Primary agammaglobulinemia
 * Primary aldosteronism
 * Primary alveolar hypoventilation
 * Primary amenorrhea
 * Primary biliary cirrhosis
 * Primary ciliary dyskinesia, 2
 * Primary ciliary dyskinesia
 * Primary craniosynostosis
 * Primary cutaneous amyloidosis
 * Primary granulocytic sarcoma
 * Primary hyperoxaluria
 * Primary lateral sclerosis
 * Primary malignant lymphoma
 * Primary orthostatic tremor
 * Primary progressive aphasia
 * Primary pulmonary hypertension
 * Primary sclerosing cholangitis
 * Primary tubular proximal acidosis
 * Primerose syndrome
 * Primordial microcephalic dwarfism Crachami type
 * Prinzmetal's variant angina
 * Procarcinoma
 * Proconvertin deficiency, congenital
 * Proctitis
 * Progeria short stature pigmented nevi
 * Progeria variant syndrome Ruvalcaba type
 * Progeria
 * Progeroid syndrome De Barsy type
 * Progeroid syndrome Petty type
 * Progeroid syndrome, Penttinen type
 * Prognathism dominant
 * Progressive acromelanosis
 * Progressive black carbon hyperpigmentation of infancy
 * Progressive diaphyseal dysplasia
 * Progressive external ophthalmoplegia
 * Progressive hearing loss stapes fixation
 * Progressive kinking of the hair, acquired
 * Progressive multifocal leukoencephalopathy
 * Progressive myositis ossificans
 * Progressive osseous heteroplasia
 * Progressive spinal muscular atrophy
 * Progressive supranuclear palsy atypical
 * Progressive supranuclear palsy
 * Progressive systemic sclerosis
 * Prolactinoma, familial
 * Prolerating trichilemmal cyst
 * Prolidase deficiency
 * Prolymphocytic leukemia
 * Properdin deficiency
 * Prosencephaly cerebellar dysgenesis
 * Prostaglandin antenatal infection
 * Prostate cancer, familial
 * Prostatic malacoplakia associated with prostatic abscess
 * Prostatitis
 * Protein C deficiency
 * Protein R deficiency
 * Protein S acquired deficiency
 * Protein S deficiency
 * Proteus like syndrome mental retardation eye defect
 * Proteus syndrome
 * Prothrombin deficiency
 * Protoporphyria, erythropoietic
 * Protoporphyria
 * Proud Levine Carpenter syndrome
 * Proximal myotonic dystrophy
 * Proximal myotonic myopathy
 * Proximal spinal muscular atrophy
 * Proximal tubulopathy diabetes mellitus cerebellar ataxia
 * Prune belly syndrome
 * Prurigo nodularis
 * Psellismophobia
 * Pseudoachondroplasia
 * Pseudoachondroplastic dysplasia 1
 * Pseudoachondroplastic dysplasia
 * Pseudoadrenoleukodystrophy
 * Pseudoaminopterin syndrome
 * Pseudoarylsulfatase A deficiency
 * Pseudocholinesterase deficiency
 * Pseudo-Gaucher disease
 * Pseudogout
 * Pseudohermaphrodism anorectal anomalies
 * Pseudohermaphroditism female skeletal anomalies
 * Pseudohermaphroditism male with gynecomastia
 * Pseudohermaphroditism mental retardation
 * Pseudohermaphroditism
 * Pseudohypoaldosteronism type 1
 * Pseudohypoaldosteronism type 2
 * Pseudohypoaldosteronism
 * Pseudohypoparathyroidism
 * Pseudomarfanism
 * Pseudomonas stutzeri infections
 * Pseudomongolism
 * Pseudomyxoma peritonei
 * Pseudoobstruction idiopathic intestinal
 * Pseudopapilledema blepharophimosis hand anomalies
 * Pseudo-Pelade of Brocq
 * Pseudopolycythaemia
 * Pseudoprogeria syndrome
 * Pseudo-torch syndrome
 * Pseudotumor cerebri
 * Pseudo-Turner syndrome
 * Pseudovaginal perineoscrotal hypospadias
 * Pseudoxanthoma elasticum, dominant form
 * Pseudoxanthoma elasticum, recessive form
 * Pseudoxanthoma elasticum
 * Pseudo-Zellweger syndrome
 * Psittacosis
 * Psoriasis
 * Psoriatic arthritis
 * Psoriatic rheumatism
 * Psychophysiologic disorder (Psychophysiological disorder)
 * Pterigium Colli
 * Pterygia mental retardation facial dysmorphism
 * Pterygium colli mental retardation digital anomalies
 * Pterygium of the conjunctiva
 * Pterygium syndrome antecubital
 * Pterygium syndrome multiple dominant type
 * Pterygium syndrome X linked
 * Pterygium syndrome, multiple
 * Ptosis coloboma mental retardation
 * Ptosis coloboma trigonocephaly
 * Ptosis strabismus diastasis
 * Ptosis strabismus ectopic pupils
 * Pulmonar arterioveinous aneurysm
 * Pulmonary agenesis
 * Pulmonary alveolar proteinosis, congenital
 * Pulmonary alveolar proteinosis
 * Pulmonary arterio-veinous fistula
 * Pulmonary artery agenesis
 * Pulmonary artery coming from the aorta
 * Pulmonary artery familial dilatation
 * Pulmonary atresia with ventricular septal defect
 * Pulmonary blastoma
 * Pulmonary branches stenosis
 * Pulmonary cystic lymphangiectasis
 * Pulmonary Disease, Chronic Obstructive
 * Pulmonary edema of mountaineers
 * Pulmonary fibrosis /granuloma
 * Pulmonary Hypertension, Secondary
 * Pulmonary hypertension
 * Pulmonary hypoplasia familial primary
 * Pulmonary sequestration
 * Pulmonary supravalvular stenosis
 * Pulmonary surfactant protein B, deficiency of
 * Pulmonary valve stenosis
 * Pulmonary valves agenesis
 * Pulmonary veins stenosis
 * Pulmonary veno-occlusive disease
 * Pulmonary venous return anomaly
 * Pulmonaryatresia intact ventricular septum
 * Pulmonic stenosis with cafe-au-lait spots
 * Punctate acrokeratoderma freckle like pigmentation
 * Punctate inner choroidopathy
 * Pupaphobia
 * Pure red cell aplasia
 * Puretic syndrome
 * Purine nucleoside phosphorylase deficiency
 * Purpura, Schoenlein-Henoch
 * Purpura, thrombotic thrombocytopenic
 * Purpura
 * Purtilo syndrome
 * Pycnodysostosis
 * Pyknoachondrogenesis
 * Pyle disease
 * Pyoderma gangrenosum
 * Pyomyositis
 * Pyrexiophobia
 * Pyridoxine deficit
 * Pyrimidinemia familial
 * Pyrophobia
 * Pyropoikilocytosis
 * Pyrosis
 * Pyruvate carboxylase deficiency
 * Pyruvate decarboxylase deficiency
 * Pyruvate dehydrogenase deficiency
 * Pyruvate kinase deficiency, liver type
 * Pyruvate kinase deficiency, muscle type
 * Pyruvate kinase deficiency

Q

 * Q fever
 * Qazi Markouizos syndrome
 * Quebec platelet disorder
 * Quinquaud's decalvans folliculitis

R

 * Rabies
 * Rabson-Mendenhall syndrome
 * Radial defect Robin sequence
 * Radial hypoplasia, triphalangeal thumbs and hypospadias
 * Radial ray agenesis
 * Radial ray hypoplasia choanal atresia
 * Radiation induced angiosarcoma of the breast
 * Radiation induced meningioma
 * Radiation leukemia
 * Radiation related neoplasm /cancer
 * Radiation syndromes
 * Radiation-Induced Brachial Plexopathy
 * Radiculomegaly of canine teeth congenital cataract
 * Radio digito facial dysplasia
 * Radio renal syndrome
 * Radiophobia
 * Radioulnar synostosis mental retardation hypotonia
 * Radioulnar synostosis retinal pigment abnormalities
 * Radio-ulnar synostosis type 1
 * Radio-ulnar synostosis type 2
 * Radius absent anogenital anomalies
 * Raine syndrome
 * Rambam Hasharon syndrome
 * Rambaud Galian syndrome
 * Ramer Ladda syndrome
 * Ramon Syndrome
 * Ramos Arroyo Clark syndrome
 * Ramsay Hunt paralysis syndrome
 * Rapadilino syndrome
 * Rapp-Hodgkin syndrome
 * Rasmussen encephalitis
 * Rasmussen Johnsen Thomsen syndrome
 * Rasmussen subacute encephalitis
 * Ray Peterson Scott syndrome
 * Raynaud's disease/phenomenon
 * Rayner Lampert Rennert syndrome
 * Reactive airway disease
 * Reactive arthritis
 * Reactive attachment disorder of early childhood
 * Reactive attachment disorder of infancy
 * Reactive hypoglycemia
 * Reardon Hall Slaney syndrome
 * Reardon Wilson Cavanagh syndrome
 * Rectal neoplasm
 * Rectophobia
 * Rectosigmoid neoplasm
 * Recurrent laryngeal papillomas
 * Recurrent peripheral facial palsy
 * Recurrent respiratory papillomatosis
 * Reductional transverse limb defects
 * Reflex sympathetic dystrophy syndrome
 * Reflux esophagitis
 * Refractory anemia
 * Refsum disease, infantile form
 * Refsum Syndrome
 * Reginato Shiapachasse syndrome
 * Regional enteritis
 * Reifenstein Syndrome
 * Reinhardt Pfeiffer syndrome
 * Reiter's Syndrome
 * Renal adysplasia dominant type
 * Renal agenesis meningomyelocele mullerian defect
 * Renal agenesis, bilateral
 * Renal agenesis
 * Renal artery stenosis
 * Renal calculi
 * Renal caliceal diverticuli deafness
 * Renal cancer
 * Renal carcinoma, familial
 * Renal cell carcinoma 4
 * Renal cell carcinoma
 * Renal dysplasia diffuse autosomal recessive
 * Renal dysplasia diffuse cystic
 * Renal dysplasia limb defects
 * Renal dysplasia megalocystis sirenomelia
 * Renal dysplasia mesomelia radiohumeral fusion
 * Renal failure
 * Renal genital middle ear anomalies
 * Renal glycosuria
 * Renal hepatic pancreatic dysplasia Dandy Walker cyst
 * Renal hypertension
 * Renal osteodystrophy
 * Renal rickets
 * Renal tubular acidosis progressive nerve deafness
 * Renal tubular acidosis, distal, autosomal dominant
 * Renal tubular acidosis, distal, autosomal recessive
 * Renal tubular acidosis, distal, type 3
 * Renal tubular acidosis, distal, type 4
 * Renal tubular acidosis, distal
 * Renal tubular acidosis
 * Renal tubular transport disorders inborn
 * Renier Gabreels Jasper syndrome
 * Renoanogenital syndrome
 * Renoprival hypertension
 * Resistance to LH (luteinizing hormone)
 * Resistance to thyroid stimulating hormone
 * Respiratory acidosis
 * Respiratory chain deficiency malformations
 * Respiratory distress syndrome, Adult
 * Respiratory distress syndrome, infant
 * Restless legs syndrome
 * Reticuloendotheliosis
 * Retina disorder
 * Retinal degeneration
 * Retinal dysplasia X linked
 * Retinal telangiectasia hypogammaglobulinemia
 * Retinis pigmentosa deafness hypogenitalism
 * Retinitis pigmentosa mental retardation deafness
 * Retinitis pigmentosa
 * Retinitis pigmentosa-deafness
 * Retinoblastoma
 * Retinohepatoendocrinologic syndrome
 * Retinopathy anemia CNS anomalies
 * Retinopathy aplastic anemia neurological abnormalities
 * Retinopathy pigmentary mental retardation
 * Retinopathy, arteriosclerotic
 * Retinopathy, diabetic
 * Retinoschisis, juvenile
 * Retinoschisis, X-linked
 * Retinoschisis
 * Retrolental fibroplasia
 * Retroperitoneal fibrosis
 * Retroperitoneal liposarcoma
 * Rett like syndrome
 * Rett Syndrome
 * Revesz Debuse syndrome
 * Reye syndrome
 * Reynolds Neri Hermann syndrome
 * Reynolds syndrome
 * Rh disease
 * Rhabditida Infections
 * Rhabdoid tumor
 * Rhabdomyomatous dysplasia cardiopathy genital anomalies
 * Rhabdomyosarcoma 1
 * Rhabdomyosarcoma 2
 * Rhabdomyosarcoma, alveolar
 * Rhabdomyosarcoma, embryonal
 * Rhabdomyosarcoma
 * Rheumatic Fever
 * Rheumatism
 * Rheumatoid arthritis
 * Rheumatoid vasculitis
 * Rhizomelic dysplasia type Patterson Lowry
 * Rhizomelic pseudopolyarthritis
 * Rhizomelic syndrome
 * Rhumatoid purpura
 * Rhypophobia
 * Rhytiphobia
 * Ribbing disease
 * Richards-Rundle syndrome
 * Richieri Costa Da Silva syndrome
 * Richieri Costa Gorlin syndrome
 * Richieri Costa Guion Almeida acrofacial dysostosis
 * Richieri Costa Guion Almeida Cohen syndrome
 * Richieri Costa Guion Almeida dwarfism
 * Richieri Costa Guion Almeida Rodini syndrome
 * Richieri Costa Montagnoli syndrome
 * Richieri Costa Orquizas syndrome
 * Richieri Costa Silveira Pereira syndrome
 * Richieri-Costa Colletto Otto syndrome
 * Richter syndrome
 * Rickets
 * Rickettsial disease
 * Rickettsiosis
 * Rieger syndrome
 * Right atrium familial dilatation
 * Right ventricle hypoplasia
 * Rigid mask like face deafness polydactyly
 * Rigid spine syndrome
 * Riley-Day syndrome
 * Ringed hair disease
 * Rivera Perez Salas syndrome
 * Roberts Syndrome
 * Robin sequence and oligodactyly
 * Robinow Sorauf syndrome
 * Robinow syndrome
 * Robinson Miller Bensimon syndrome
 * Roch-Leri mesosomatous lipomatosis
 * Rocky Mountain spotted fever
 * Rod myopathy
 * Rodini Richieri Costa syndrome
 * Rokitansky Kuster Hauser syndrome
 * Rokitansky sequence
 * Romano-Ward syndrome
 * Romberg hemi-facial atrophy
 * Rombo syndrome
 * Rommen Mueller Sybert syndrome
 * Rosai-Dorfman disease
 * Rosenberg Chutorian syndrome
 * Rosenberg Lohr syndrome
 * Roseola infantum
 * Rotor syndrome
 * Roussy Levy hereditary areflexic dystasia
 * Rowley-Rosenberg syndrome
 * Roy Maroteaux Kremp syndrome
 * Rozin Hertz Goodman syndrome
 * Rubella virus antenatal infection
 * Rubella, congenital
 * Rubella
 * Rubinstein Taybi like syndrome
 * Rubinstein-Taybi syndrome
 * Rudd Klimek syndrome
 * Rudiger syndrome
 * Rumination disorder
 * Rupophobia
 * Rutledge Friedman Harrod syndrome
 * Ruvalcaba Churesigaew Myhre syndrome
 * Ruvalcaba syndrome
 * Ruvalcaba-Myhre syndrome
 * Ruvalcaba-Myhre-Smith syndrome (BRR)
 * Ruzicka Goerz Anton syndrome

S

 * Saal Bulas syndrome
 * Saal Greenstein syndrome
 * Sabinas brittle hair syndrome
 * Saccharopinuria
 * Sackey Sakati Aur syndrome
 * Sacral agenesis
 * Sacral defect anterior sacral meningocele
 * Sacral hemangiomas multiple congenital abnormalities
 * Sacral meningocele conotruncal heart defects
 * Sacral plexopathy
 * Sacrococcygeal dysgenesis association
 * Saethre-Chotzen syndrome
 * Saito Kuba Tsuruta syndrome
 * Sakati syndrome
 * Salcedo syndrome
 * Salivary disorder
 * Salivary gland disorders
 * Salla disease
 * Sallis Beighton syndrome
 * Salmonella Infections
 * Salti Salem syndrome
 * Sammartino Decreccio syndrome
 * Samson Gardner syndrome
 * Samson Viljoen syndrome
 * Sanderson Fraser syndrome
 * Sandhaus Ben Ami syndrome
 * Sandhoff disease
 * Sandrow Sullivan Steel syndrome
 * Sanfilippo syndrome
 * Santavuori disease
 * Santos Mateus Leal syndrome
 * SAPHO syndrome
 * Sarcoidosis, pulmonary
 * Sarcoidosis
 * Sarcoma, Granulocytic
 * Sarcosinemia
 * Satoyoshi syndrome
 * Saul Wilkes Stevenson syndrome
 * Say Barber Hobbs syndrome
 * Say Barber Miller syndrome
 * Say Carpenter syndrome
 * Say Field Coldwell syndrome
 * Say Meyer syndrome
 * Scabiophobia
 * SCAD deficiency
 * Scalp defects postaxial polydactyly
 * Scalp ear nipple syndrome
 * Scapuloiliac dysostosis
 * Scapuloperoneal myopathy
 * SCARF syndrome
 * Schaap Taylor Baraitser syndrome
 * Schaefer Stein Oshman syndrome
 * Schamberg disease pigmentation disorder
 * Schamberg disease
 * Scheie syndrome
 * Schereshevskij Turner
 * Scheurermann's disease
 * Schimke syndrome
 * Schindler disease
 * Schinzel Giedion syndrome
 * Schinzel syndrome
 * Schinzel-Giedion midface retraction syndrome
 * Schisis association
 * Schizencephaly
 * Schizophrenia mental retardation deafness retinitis
 * Schizophrenia, genetic types
 * Schlegelberger Grote syndrome
 * Schmidt syndrome
 * Schmitt Gillenwater Kelly syndrome
 * Schneckenbecken dysplasia
 * Schofer Beetz Bohl syndrome
 * Scholte Begeer Van Essen syndrome
 * Schraderman's disease
 * Schrander Stumpel Theunissen Hulsmans syndrome
 * Schroer Hammer Mauldin syndrome
 * Schwannoma, malignant
 * Schwannomatosis
 * Schwartz Newark syndrome
 * Schwartz-Jampel syndrome
 * Schwartz-lelek syndrome
 * Schweitzer Kemink Malcolm syndrome
 * Sciatica
 * Scimitar syndrome
 * Sciophobia
 * Scleredema
 * Scleroatonic myopathy
 * Sclerocornea, Syndactyly, ambiguous genitalia
 * Scleroderma
 * Scleromyxedema
 * Sclerosing bone dysplasia mental retardation
 * Sclerosing cholangitis
 * Sclerosing Lymphocytic Lobulitis
 * Sclerosing Mesenteritis
 * Sclerosteosis
 * Sclerotylosis
 * Scoleciphobia
 * Scoliosis as part of NF
 * Scoliosis with unilateral unsegmented bar
 * Scopophobia
 * SCOT deficiency
 * Scotomaphobia
 * Scott Bryant Graham syndrome
 * Scott syndrome
 * Scrapie
 * Sea-blue histiocytosis
 * Seafood poisoning
 * Seaver Cassidy syndrome
 * Sebocystomatosis
 * Secernentea Infections
 * Seckel like syndrome Majoor Krakauer type
 * Seckel like syndrome type Buebel
 * Seckel syndrome 2
 * Seckel syndrome
 * Secondary pulmonary hypertension
 * Seemanova Lesny syndrome
 * Seemanova syndrome type 2
 * Seghers syndrome
 * Segmental neurofibromatosis
 * Segmental vertebral anomalies
 * Seizures benign familial neonatal recessive form
 * Seizures mental retardation hair dysplasia
 * Selachophobia
 * Selenium poisoning
 * Selenophobia
 * Selig Benacerraf Greene syndrome
 * Seminoma
 * Semmerkrot Haraldsson Weenaes syndrome
 * Sener syndrome
 * Sengers Hamel Otten syndrome
 * Senior syndrome
 * Senior-Loken Syndrome
 * Sennetsu Fever
 * Sensorineural hearing loss
 * Sensory neuropathy type 1
 * Sensory neuropathy
 * Sensory radicular neuropathy recessive form
 * Senter syndrome
 * Seow Najjar syndrome
 * Seplophobia
 * Sepsis
 * Septooptic dysplasia digital anomalies
 * Septo-optic dysplasia
 * Sequeiros Sack syndrome
 * Seres Santamaria Arimany Muniz syndrome
 * Serious digitalis intoxication
 * Setleis syndrome
 * Severe combined immunodeficiency
 * Severe Infantile Axonal Neuropathy
 * Sex Chromosome Disorders
 * Sezary syndrome
 * Sezary's lymphoma
 * Shapiro syndrome
 * Sharma Kapoor Ramji syndrome
 * Sharp syndrome
 * Shaver's Disease
 * Sheehan syndrome
 * Shigellosis
 * Shith Filkins syndrome
 * Shock
 * Shokeir syndrome
 * Short broad great toe macrocranium
 * Short chain Acyl CoA dehydrogenase deficiency
 * Short limb dwarf lethal Colavita Kozlowski type
 * Short limb dwarf lethal Mcalister Crane type
 * Short limb dwarf oedema iris coloboma
 * Short limb dwarfism Al Gazali type
 * Short limbs abnormal face congenital heart disease
 * Short limbs subluxed knees cleft palate
 * Short rib syndrome Beemer type
 * Short rib-polydactyly syndrome, Beermer type
 * Short rib-polydactyly syndrome, Majewski type
 * Short rib-polydactyly syndrome, Saldino-Noonan type
 * Short rib-polydactyly syndrome, Verma-Naumoff type
 * Short rib-polydactyly syndrome
 * Short ribs craniosynostosis polysyndactyly
 * Short stature abnormal skin pigmentation mental retardation
 * Short stature Brussels type
 * Short stature contractures hypotonia
 * Short stature cranial hyperostosis hepatomegaly
 * Short stature deafness neutrophil dysfunction
 * Short stature dysmorphic face pelvic scapula dysplasia
 * Short stature heart defect craniofacial anomalies
 * Short stature hyperkaliemia acidosis
 * Short stature locking fingers
 * Short stature mental retardation eye anomalies
 * Short stature mental retardation eye defects
 * Short stature microcephaly heart defect
 * Short stature microcephaly seizures deafness
 * Short stature monodactylous ectrodactyly cleft palate
 * Short stature prognathism short femoral necks
 * Short stature Robin sequence cleft mandible hand anomalies clubfoot
 * Short stature talipes natal teeth
 * Short stature valvular heart disease
 * Short stature webbed neck heart disease
 * Short stature wormian bones dextrocardia
 * Short syndrome
 * Short tarsus absence of lower eyelashes
 * Shoulder and thorax deformity congenital heart disease
 * Shoulder girdle defect mental retardation familial
 * Shprintzen Golberg craniosynostosis
 * Shprintzen syndrome
 * Shwachman syndrome
 * Shwachman-Diamond syndrome
 * Shwartzman phenomenon
 * Shy-Drager syndrome
 * Sialadenitis
 * Sialidosis type 1 and 3
 * Sialidosis
 * Sialuria, French type
 * Sickle cell anemia
 * Sickle cell crisis
 * Sickle cell trait
 * Sideroblastic anemia, autosomal
 * Siderosis
 * Siegler Brewer Carey syndrome
 * Silengo Lerone Pelizzo syndrome
 * Silicosiderosis
 * Silicosis
 * Sillence syndrome
 * Silver-Russell dwarfism
 * Silvery hair syndrome
 * Simian B virus infection
 * Simosa Penchaszadeh Bustos syndrome
 * Simpson-Golabi-Behmel syndrome
 * Singh Chhaparwal Dhanda syndrome
 * Single upper central incisor
 * Single ventricular heart
 * Singleton Merten syndrome
 * Sinistrophobia
 * Sino-auricular heart block
 * Sinus cancer
 * Sinus histiocytosis
 * Sinus node disease and myopia
 * Sipple syndrome
 * Sirenomelia
 * Sitophobia
 * Sitosterolemia
 * Situs inversus totalis with cystic dysplasia of kidneys and pancreas
 * Situs inversus viscerum-cardiopathy
 * Situs inversus, X linked
 * Sjogren Larsson like syndrome
 * Sjogren Larsson syndrome
 * Sjogren's syndrome
 * Skeletal dysplasia brachydactyly
 * Skeletal dysplasia epilepsy short stature
 * Skeletal dysplasia orofacial anomalies
 * Skeletal dysplasia San diego type
 * Skeletal dysplasias
 * Skeleto cardiac syndrome with thrombocytopenia
 * Sketetal dysplasia coarse facies mental retardation
 * Skin peeling syndrome
 * Slavotinek Hurst syndrome
 * Sly syndrome
 * Small cell lung cancer
 * Small non-cleaved cell lymphoma
 * Smet Fabry Fryns syndrome
 * Smith Fineman Myers syndrome
 * Smith Martin Dodd syndrome
 * Smith-Magenis Syndrome
 * Sneddon Syndrome
 * Sociophobia
 * Soft tissue sarcomas
 * Sohval Soffer syndrome
 * Somatostatinoma
 * Sommer Hines syndrome
 * Sommer Rathbun Battles syndrome
 * Sommer Young Wee Frye syndrome
 * Somniphobia
 * Sondheimer syndrome
 * Sonoda syndrome
 * Sophophobia
 * Sosby syndrome
 * Sotos syndrome
 * Southwestern Athabaskan genetic diseases
 * Sparse hair ptosis mental retardation
 * Spasmodic dysphonia
 * Spasmodic torticollis
 * Spastic angina with healthy coronary artery
 * Spastic ataxia Charlevoix-Saguenay type
 * Spastic diplegia infantile type
 * Spastic dysphonia
 * Spastic paraparesis deafness
 * Spastic paraparesis, infantile
 * Spastic paraparesis
 * Spastic paraplegia epilepsy mental retardation
 * Spastic paraplegia facial cutaneous lesions
 * Spastic paraplegia familial autosomal recessive form
 * Spastic paraplegia glaucoma precocious puberty
 * Spastic paraplegia mental retardation corpus callosum
 * Spastic paraplegia nephritis deafness
 * Spastic paraplegia neuropathy poikiloderma
 * Spastic paraplegia type 1, X-linked
 * Spastic paraplegia type 2, X-linked
 * Spastic paraplegia type 3, dominant
 * Spastic paraplegia type 4, dominant
 * Spastic paraplegia type 5A, recessive
 * Spastic paraplegia type 5B, recessive
 * Spastic paraplegia type 6, dominant
 * Spastic paraplegia, familial
 * Spastic paresis glaucoma mental retardation
 * Spastic quadriplegia retinitis pigmentosa mental retardation
 * Spasticity mental retardation
 * Spasticity multiple exostoses
 * Spatic paraparesis vitiligo premature graying
 * Spellacy gibbs watts syndrome
 * Spermatogenesis arrest
 * Spherocytosis
 * Spherophakia brachymorphia syndrome
 * Sphingolipidosis
 * Spielmeyer-Vogt disease
 * Spina bifida hypospadias
 * Spina bifida
 * Spinal atrophy ophthalmoplegia pyramidal syndrome
 * Spinal bulbar motor neuropathy
 * Spinal bulbar muscular atrophy
 * Spinal cord disorder
 * Spinal cord injury
 * Spinal cord neoplasm
 * Spinal dysostosis type Anhalt
 * Spinal muscular atrophy type 1
 * Spinal muscular atrophy type 2
 * Spinal muscular atrophy type 3
 * Spinal muscular atrophy type I with congenital bone fractures
 * Spinal muscular atrophy
 * Spinal shock
 * Spinal stenosis
 * Spine rigid cardiomyopathy
 * Spinocerebellar ataxia 1
 * Spinocerebellar ataxia 2
 * Spinocerebellar ataxia 4
 * Spinocerebellar ataxia 5
 * Spinocerebellar ataxia 6
 * Spinocerebellar ataxia 7
 * Spinocerebellar ataxia 8
 * Spinocerebellar ataxia amyotrophy deafness
 * Spinocerebellar ataxia dysmorphism
 * Spinocerebellar atrophy type 3
 * Spinocerebellar degeneration corneal dystrophy
 * Spinocerebellar degenerescence book type
 * Spirochetes disease
 * Spirurida Infections
 * Spleen neoplasm
 * Splenic agenesis syndrome
 * Splenogonadal fusion limb defects micrognatia
 * Splenomegaly
 * Split hand deformity mandibulofacial dysostosis
 * Split hand split foot malformation autosomal reces
 * Split hand split foot mandibular hypoplasia
 * Split hand split foot nystagmus
 * Split hand split foot X linked
 * Split hand urinary anomalies spina bifida
 * Split-hand deformity
 * Sponastrime dysplasia
 * Spondylarthritis
 * Spondylarthropathies
 * Spondylarthropathy
 * Spondylitis
 * Spondylo camptodactyly syndrome
 * Spondylo costal dysostosis dandy walker
 * Spondylocarpotarsal synostosis
 * Spondylocostal dysplasia dominant
 * Spondylodysplasia brachyolmia
 * Spondyloenchondrodysplasia
 * Spondyloepimetaphyseal dysplasia congenita, Iraqi
 * Spondyloepimetaphyseal dysplasia congenita, Strudw
 * Spondyloepimetaphyseal dysplasia joint laxity
 * Spondyloepimetaphyseal dysplasia
 * Spondyloepiphyseal dysplasia nephrotic syndrome
 * Spondyloepiphyseal dysplasia tarda progressive art
 * Spondyloepiphyseal dysplasia tarda
 * Spondyloepiphyseal dysplasia, congenital type
 * Spondyloepiphyseal dysplasia
 * Spondylohypoplasia arthrogryposis popliteal pteryg
 * Spondylometaphyseal dysplasia, 'corner fracture' t
 * Spondylometaphyseal dysplasia, Schmidt type
 * Spondylometaphyseal dysplasia, Sedaghatian type
 * Spondylometaphyseal dysplasia, X-linked
 * Spondylometaphyseal dysplasia
 * Spondyloperipheral dysplasia short ulna
 * Spongiform encephalopathy
 * Spongy degeneration of central nervous system
 * Spontaneous periodic hypothermia
 * Spontaneous pneumothorax familial type
 * Sporotrichosis
 * Spotted fever
 * Spranger schinzel yers syndrome
 * Sprengel deformity
 * Squamous cell carcinoma
 * SSADH (succinic semialdehyde dehydrogenase deficiency)
 * SSPE (subacute sclerosing panencephalitis)
 * St. Anthony's fire
 * Stalker chitayat syndrome
 * Stampe sorensen syndrome
 * Stargardt's disease
 * Steatocystoma multiplex natal teeth
 * Steatocystoma multiplex
 * Steele Richardson Olszewski syndrome, atypical
 * Steinfeld syndrome
 * Stein-Leventhal syndrome
 * Stenophobia
 * Sterility due to immotile flagella
 * Stern lubinsky durrie syndrome
 * Sternal cleft
 * Sternal cyst vascular anomalies
 * Sternal malformation vascular dysplasia associatio
 * Steroid dehydrogenase deficiency dental anomalies
 * Stevens–Johnson syndrome
 * Stickler syndrome, type 1
 * Stickler syndrome, type 2
 * Stickler syndrome, type 3
 * Stickler syndrome
 * Stiff man syndrome
 * Stiff skin syndrome
 * Still's disease
 * Stimmler syndrome
 * Stoelinga de koomen davis syndrome
 * Stoll alembik dott syndrome
 * Stoll alembik finck syndrome
 * Stoll geraudel chauvin syndrome
 * Stoll kieny dott syndrome
 * Stoll levy francfort syndrome
 * Stomach cancer, familial
 * Stomach cancer
 * Storage pool platelet disease
 * Stormorken sjaastad langslet syndrome
 * Strabismus
 * Stratton garcia young syndrome
 * Stratton parker syndrome
 * Streeter's (Amniotic Bands)
 * Streptococcus, Group B
 * Striatonigral degeneration infantile
 * Strongyloidiasis
 * Strudwick Syndrome
 * Strumpell-lorrain disease
 * Stuart factor deficiency, congenital
 * Stuccokeratosis
 * Sturge-Weber syndrome
 * Stuve Wiedemann dysplasia
 * Subacute cerebellar degeneration
 * Subacute sclerosing leucoencephalitis
 * Subacute sclerosing panencephalitis
 * Subaortic stenosis short stature syndrome
 * Subcortical laminar heterotopia
 * Subependymal nodular heterotopia
 * Subpulmonary stenosis
 * Subvalvular aortic stenosis
 * Succinate coenzyme Q reductase deficiency of
 * Succinic acidemia lactic acidosis congenital
 * Succinic acidemia
 * Succinic semialdehyde dehydrogenase deficiency
 * Succinyl-CoA acetoacetate transferase deficiency
 * Sucrase-isomaltase deficiency
 * Sudden infant death syndrome
 * Sugarman syndrome
 * Sulfatidosis juvenile, Austin type
 * Sulfite and xanthine oxydase deficiency
 * Sulfite oxidase deficiency
 * Summitt syndrome
 * Super mesenteric artery syndrome
 * Supranuclear ocular palsy
 * Supraumbilical midabdominal raphe and facial cavernous hemangiomas
 * Suriphobia
 * Susac syndrome
 * Sutherland Haan syndrome
 * Sutton disease II
 * Sutton's Disease II
 * Sweet syndrome
 * Swyer James and McLeod Syndrome
 * Swyer syndrome
 * Sybert Smith syndrome
 * Sydenham's chorea
 * Symmetrical thalamic calcifications
 * Symphalangism brachydactyly craniosynostosis
 * Symphalangism brachydactyly
 * Symphalangism Cushing type
 * Symphalangism distal
 * Symphalangism familial proximal
 * Symphalangism short stature accessory testis
 * Symphalangism with multiple anomalies of hands and feet
 * Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
 * Syncamptodactyly scoliosis
 * Syncopal paroxysmal tachycardia
 * Syncopal tachyarythmia
 * Syncope
 * Syndactyly between 4 and 5
 * Syndactyly cataract mental retardation
 * Syndactyly Cenani Lenz type
 * Syndactyly ectodermal dysplasia cleft lip palate hand foot
 * Syndactyly type 1 microcephaly mental retardation
 * Syndactyly type 2
 * Syndactyly type 3
 * Syndactyly type 5
 * Syndactyly
 * Syndactyly-polydactyly-ear lobe syndrome
 * Syndrome X
 * Syngnathia cleft palate
 * Syngnathia multiple anomalies
 * Synostosis of talus and calcaneus short stature
 * Synovial cancer
 * Synovial osteochondromatosis
 * Synovial sarcoma
 * Synovialosarcoma
 * Synovitis acne pustulosis hyperostosis osteitis
 * Synovitis granulomatous uveitis cranial neuropathi
 * Synovitis
 * Synpolydactyly
 * Syphilis embryopathy
 * Syphilis
 * Syringobulbia
 * Syringocystadenoma papilliferum
 * Syringomas natal teeth oligodontia
 * Syringomelia hyperkeratosis
 * Syringomyelia
 * Systemic arterio-veinous fistula
 * Systemic carnitine deficiency
 * Systemic lupus erythematosus
 * Systemic mastocytosis
 * Systemic necrotizing angeitis
 * systemic sclerosis

T

 * T cell immunodeficiency primary
 * Tabatznik syndrome
 * Tachycardia
 * Taeniasis
 * Takayasu arteritis
 * Talipes equinovarus
 * Tamari Goodman syndrome
 * Tang Hsi Ryu syndrome
 * Tangier disease
 * TAR syndrome
 * Tardive dyskinesia
 * Tarsal tunnel syndrome
 * Taste disorder
 * TAU syndrome
 * Taurodontia absent teeth sparse hair
 * Taurodontism
 * Tay syndrome ichthyosis
 * Taybi Linder syndrome
 * Taybi syndrome
 * Tay-Sachs disease
 * T-cell lymphoma
 * Teebi Kaurah syndrome
 * Teebi Naguib Alawadi syndrome
 * Teebi Shaltout syndrome
 * Teebi syndrome
 * Teeth noneruption of with maxillary hypoplasia and genu valgum
 * Tel Hashomer camptodactyly syndrome
 * Telangiectasia ataxia variant V1
 * Telangiectasia, hereditary hemorrhagic
 * Telangiectasia
 * Telecanthus hypertelorism pes cavus
 * Telecanthus with associated abnormalities
 * Telencephalic leukoencephalopathy
 * Telfer Sugar Jaeger syndrome
 * Temporal epilepsy, familial
 * Temporomandibular ankylosis
 * Temporomandibular joint dysfunction (TMJ)
 * Temtamy Shalash syndrome
 * TEN
 * Ter Haar Hamel Hendricks syndrome
 * Ter Haar syndrome
 * Teratocarcinosarcoma
 * Teratoma
 * Teratophobia
 * Testes neoplasm
 * Testotoxicosis
 * Tetanophobia
 * Tetanus
 * Tethered spinal cord disease
 * Tetraamelia ectodermal dysplasia
 * Tetraamelia multiple malformations
 * Tetraamelia pulmonary hypoplasia
 * Tetraamelia-syrinx
 * Tetrahydrobiopterin deficiencies
 * Tetraploidy
 * Tetrasomy X
 * Thaasophobia
 * Thakker Donnai syndrome
 * Thalamic degeneration symmetrical infantile
 * Thalamic degenerescence infantile
 * Thalamic syndrome
 * Thalassemia major
 * Thalassemia minor
 * Thalassemia
 * Thalassophobia
 * Thanatophobia
 * Thanatophoric dysplasia cloverleaf skull
 * Thanatophoric dysplasia Glasgow variant
 * Thanos Stewart Zonana syndrome
 * Theodor Hertz Goodman syndrome
 * Thiele syndrome
 * Thiemann epiphyseal disease
 * Thies Reis syndrome
 * Thin ribs tubular bones dysmorphism
 * Thiolase deficiency
 * Thiopurine S methyltranferase deficiency
 * Thomas Jewett Raines syndrome
 * Thomas syndrome
 * Thombocytopenia X linked
 * Thompson Baraitser syndrome
 * Thong Douglas Ferrante syndrome
 * Thoracic celosomia
 * Thoracic dysplasia hydrocephalus syndrome
 * Thoracic outlet syndrome
 * Thoraco abdominal enteric duplication
 * Thoraco limb dysplasia Rivera type
 * Thoracolaryngopelvic dysplasia
 * Thoracopelvic dysostosis
 * Thost-Unna palmoplantar keratoderma
 * Thrombasthenia
 * Thrombocytopathy asplenia miosis
 * Thrombocytopathy
 * Thrombocytopenia cerebellar hypoplasia short stature
 * Thrombocytopenia chromosome breakage
 * Thrombocytopenia multiple congenital anomaly
 * Thrombocytopenia purpura
 * Thrombocytopenia Robin sequence
 * Thrombocytopenia
 * Thrombocytopenic purpura, autoimmune
 * Thrombocytosis
 * Thrombomodulin anomalies, familial
 * Thrombotic microangiopathy, familial
 * Thumb absence hypoplastic halluces
 * Thumb absent short stature immune deficiency
 * Thumb deformity, alopecia, pigmentation anomaly
 * Thumb deformity
 * Thumb stiff brachydactyly mental retardation
 * Thymic epithelial tumor
 * Thymic renal anal lung dysplasia
 * Thymoma
 * Thymus neoplasm
 * Thyrocerebrorenal syndrome
 * Thyroglossal tract cyst
 * Thyroid agenesis
 * Thyroid cancer
 * Thyroid carcinoma, follicular
 * Thyroid carcinoma, papillary (TPC)
 * Thyroid hormone plasma membrane transport defect
 * Thyroid, renal and digital anomalies
 * Tibia absent polydactyly arachnoid cyst
 * Tibiae bowed radial anomalies osteopenia fracture
 * Tibial aplasia ectrodactyly hydrocephalus
 * Tibial aplasia ectrodactyly
 * Tibial hemimelia cleft lip palate
 * Tick paralysis
 * Tick-borne encephalitis
 * Tièche-Jadassohn nevus
 * Tietz syndrome
 * Tinnitus
 * T-Lymphocytopenia
 * Todd's paralysis
 * Togaviridae disease
 * Tollner Horst Manzke syndrome
 * Tolosa-Hunt syndrome
 * Toluene antenatal infection
 * Tomaculous neuropathy
 * Tome Brune Fardeau syndrome
 * Tongue neoplasm
 * Toni Debre Fanconi maladie
 * Toni-Fanconi syndrome
 * Topophobia
 * TORCH syndrome
 * Toriello Carey syndrome
 * Toriello Lacassie Droste syndrome
 * Toriello syndrome
 * Toriello-Higgins-Miller syndrome
 * Torres Ayber syndrome
 * Torsion dystonia 7
 * Torticollis keloids cryptorchidism renal dysplasia
 * Torulopsis
 * Tosti Misciali Barbareschi syndrome
 * Total Hypotrichosis, Mari type
 * Touraine-Solente-Golé syndrome
 * Townes-Brocks syndrome
 * Toxic Conjunctivitis
 * Toxocariasis
 * Toxopachyoteose diaphysaire tibio peroniere
 * Toxoplasmosis congenital
 * Toxoplasmosis
 * Tracheal agenesis
 * Tracheobronchomalacia
 * Tracheobronchomegaly
 * Tracheobronchopathia osteoplastica
 * Tracheoesophageal fistula symphalangism
 * Tracheoesophageal fistula
 * Tracheophageal fistula hypospadias
 * Tranebjaerg Svejgaard syndrome
 * Transcobalamin II deficiency
 * Transient erythroblastopenia of childhood
 * Transient Global Amnesia
 * Transient neonatal arthrogryposis
 * Transitional cell carcinoma
 * Transplacental infections
 * Transposition of great vessels
 * Transverse limb deficiency hemangioma
 * Transverse myelitits
 * TRAPS (TNF-receptor-associated periodic syndrome)
 * Traumatophobia
 * Treft Sanborn Carey syndrome
 * Tremophobia
 * Tremor hereditary essential
 * Treponema infection
 * Trevor disease
 * Triatrial heart
 * Trichinellosis
 * Trichinosis
 * Tricho dento osseous syndrome type 1
 * Tricho odonto onycho dermal syndrome
 * Tricho odonto onychodysplasia syndactyly dominant type
 * Tricho onychic dysplasia
 * Tricho onycho hypohidrotic dysplasia
 * Tricho retino dento digital syndrome
 * Trichodental syndrome
 * Tricho-dento-osseous syndrome
 * Trichodermodysplasia dental alterations
 * Trichodysplasia xeroderma
 * Trichoepithelioma multiple familial
 * Trichofolliculloma
 * Tricho-hepato-enteric syndrome
 * Trichomalacia
 * Trichomegaly cataract hereditary spherocytosis
 * Trichomegaly retina pigmentary degeneration dwarfi
 * Trichoodontoonychial dysplasia
 * Trichopathophobia
 * Trichorhinophalangeal syndrome type I
 * Trichorhinophalangeal syndrome type II
 * Trichorhinophalangeal syndrome type III
 * Trichostasis spinulosa
 * Trichothiodystrophy sun sensitivity
 * Trichothiodystrophy
 * Trichotillomania
 * Tricuspid atresia
 * Tricuspid dysplasia
 * Trigeminal neuralgia
 * Trigger thumb
 * Trigonocephaly bifid nose acral anomalies
 * Trigonocephaly broad thumbs
 * Trigonocephaly ptosis coloboma
 * Trigonocephaly ptosis mental retardation
 * Trigonomacrocephaly tibial defect polydactyly
 * Trihydroxycholestanoylcoa oxidase isolated deficiency
 * Trimethadione antenatal infection
 * Trimethylaminuria
 * Triopia
 * Triose phosphate-isomerase deficiency
 * Triphalangeal thumb non opposable
 * Triphalangeal thumb polysyndactyly syndrome
 * Triphalangeal thumbs brachyectrodactyly
 * Triple A syndrome
 * Triplo X Syndrome
 * Triploid Syndrome
 * Triploidy
 * Trismus pseudocamptodactyly syndrome
 * Trisomy 1 mosaicism
 * Trisomy 11 mosaicism
 * Trisomy 12 mosaicism
 * Trisomy 14 mosaicism
 * Trisomy 2 mosaicism
 * Trisomy 3 mosaicism
 * Trisomy 6
 * Trisomy
 * Trochlear dysplasia
 * Trophoblastic Neoplasms (gestational trophoblastic disease)
 * Trophoblastic tumor
 * Tropical Spastic Paraparesis
 * Tropical sprue
 * Tropophobia
 * Troyer syndrome
 * Trueb Burg Bottani syndrome
 * Trypanophobia
 * Trypanosomiasis, east-African
 * Trypanosomiasis, west African
 * Tsao Ellingson syndrome
 * Tsukahara Azuno Kajii syndrome
 * Tsukahara Kajii syndrome
 * Tsukuhara syndrome
 * Tuberculophobia
 * Tuberculosis, pulmonary
 * Tuberculosis
 * Tuberculous meningitis
 * Tuberculous uveitis
 * Tuberous sclerosis, type 1
 * Tuberous sclerosis, type 2
 * Tuberous sclerosis
 * Tucker syndrome
 * Tuffli Laxova syndrome
 * Tufted angioma
 * Tularemia
 * Tungiasis
 * Tunglang Savage Bellman syndrome
 * Turcot syndrome
 * Turner Kieser syndrome
 * Turner Morgani Albright
 * Turner-like syndrome
 * Turner's syndrome
 * Tutuncuoglu syndrome
 * Twin twin transfusion syndrome
 * Typhoid
 * Typhus
 * Tyrosinemia
 * Tyrosine-oxidase temporary deficiency

U

 * UDP-galactose-4-epimerase deficiency
 * Uhl anomaly
 * Ulbright Hodes syndrome
 * Ulcerative colitis
 * Ulerythema ophryogenesis
 * Ulna and fibula absence with severe limb deficit
 * Ulna hypoplasia mental retardation
 * Ulna metaphyseal dysplasia syndrome
 * Ulnar hypoplasia lobster claw deformity of feet
 * Umbilical cord ulceration intestinal atresia
 * Uncombable hair syndrome
 * Uniparental disomy of 11
 * Uniparental disomy of 13
 * Uniparental disomy of 14
 * Uniparental disomy of 2
 * Uniparental disomy of 6
 * Uniparental disomy
 * Unna-Politzer nevus
 * Unna's seborrhoeic eczema
 * Upington disease
 * Upper limb defect eye and ear abnormalities
 * Upton Young syndrome
 * Urachal cancer
 * Urachal cyst
 * Urban Rogers Meyer syndrome
 * Urban Schosser Spohn syndrome
 * Urea cycle enzymopathies
 * Uremia
 * Urethral obstruction sequence
 * Uridine monophosphate synthetase deficiency
 * Urinary calculi
 * Urinary tract neoplasm
 * Urioste Martinez Frias syndrome
 * Urocanase deficiency
 * Urogenital adysplasia
 * Urophathy distal obstructive polydactyly
 * Urticaria pigmentosa
 * Urticaria
 * Urticaria-deafness-amyloidosis
 * Usher syndrome, type 1C
 * Usher syndrome, type 1D
 * Usher syndrome, type 1E
 * Usher syndrome, type 2A
 * Usher syndrome, type 2B
 * Usher syndrome, type 2C
 * Usher syndrome, type 3
 * Usher syndrome, type IA
 * Usher syndrome, type IB
 * Usher syndrome
 * Uveal diseases
 * Uveitis, anterior
 * Uveitis, posterior
 * Uveitis

V

 * Vaccinophobia
 * VACTERL association with hydrocephaly, X linked
 * VACTERL association
 * VACTERL hydrocephaly
 * Vacuolar myopathy
 * Vagina absence of
 * Vagneur Triolle Ripert syndrome
 * Valinemia
 * Valproic acid antenatal infection
 * Valvular dysplasia of the child
 * Van Allen Myhre syndrome
 * Van Bogaert-Hozay syndrome
 * Van De Berghe Dequeker syndrome
 * Van Den Bosch syndrome
 * Van Den Ende Brunner syndrome
 * Van der Woude syndrome 2
 * Van der Woude syndrome
 * Van Goethem syndrome
 * Van Maldergem Wetzburger Verloes syndrome
 * Van Regemorter Pierquin Vamos syndrome
 * Vancomycin-resistant enterococcal bacteremia
 * Varadi Papp syndrome
 * Varicella virus antenatal infection
 * Varicella Zoster
 * Variegate porphyria
 * Vas deferens, congenital bilateral aplasia of
 * Vascular disruption sequence
 * Vascular helix of umbilical cord
 * Vascular malformations of the brain
 * Vascular malposition
 * Vascular purpura
 * Vasculitis hypersensitivity
 * Vasculitis, cutaneous necrotizing
 * Vasopressin-resistant diabetes insipidus
 * Vasquez Hurst Sotos syndrome
 * VATER association
 * Vein of Galen aneurysm
 * Velofacioskeletal syndrome
 * Velopharyngeal incompetence
 * Venencie Powell Winkelmann syndrome
 * Ventricular extrasystoles perodactyly Robin sequence
 * Ventricular familial preexcitation syndrome
 * Ventricular fibrillation, idiopathic
 * Ventricular septal defects
 * Ventriculo-arterial discordance, isolated
 * Ventruto Digirolamo Festa syndrome
 * Verloes Bourguignon syndrome
 * Verloes David syndrome
 * Verloes Gillerot Fryns syndrome
 * Verloes Van Maldergem Marneffe syndrome
 * Verloove Vanhorick Brubakk syndrome
 * Vernal keratoconjunctivitis
 * Verrucous nevus acanthokeratolytic
 * Verrucous nevus
 * Vertebral body fusion overgrowth
 * Vertebral fusion posterior lumbosacral blepharoptosis
 * Vertical talus
 * Vestibulocochlear dysfunction progressive familial
 * Viljoen Kallis Voges syndrome
 * Viljoen Smart syndrome
 * Viljoen Winship syndrome
 * Vipoma
 * Viral hemorrhagic fever
 * Virilism
 * Virilizing ovarian tumor
 * Virus associated hemophagocytic syndrome
 * Visceral myopathy familial external ophthalmoplegia
 * Visceral steatosis
 * Viscero-atrial heterotaxia
 * Visna Maedi complex
 * Vitamin A embryopathy
 * Vitamin B 6 Deficiency
 * Vitamin B12 Deficiency
 * Vitamin B12 responsive methylmalonic acidemia, cbl A
 * Vitamin B12 responsive methylmalonicaciduria
 * Vitamin D resistant rickets
 * Vitamin E deficiency
 * Vitamin E familial isolated, deficiency of
 * Vitiligo mental retardation facial dysmorphism uremia
 * Vitiligo psychomotor retardation cleft palate facial dysmorphism
 * Vitiligo
 * Vitreoretinal degeneration
 * Vitreoretinochoroidopathy dominant
 * VKH
 * VLCAD deficiency
 * Vocal cord dysfunction familial
 * Von Gierke disease
 * Von Hippel-Lindau syndrome
 * Von Recklinghausen disease
 * Von Voss Cherstvoy syndrome
 * Von Willebrand disease, dominant form
 * Von willebrand disease, platelet type
 * Von Willebrand disease, recessive form
 * Von Willebrand disease
 * Vulvodynia
 * Vulvovaginitis

W

 * W syndrome
 * Waaler Aarskog syndrome
 * Waardenburg syndrome type 1
 * Waardenburg syndrome type 2
 * Waardenburg syndrome type 2A
 * Waardenburg syndrome type 2B
 * Waardenburg syndrome type 3
 * Waardenburg syndrome, type 4
 * Waardenburg syndrome
 * Waardenburg type Pierpont
 * Wagner disease
 * Wagner-Stickler syndrome
 * WAGR syndrome
 * Walbaum Titran Durieux Crepin syndrome
 * Waldenstrom macroglobulinemia
 * Waldmann disease
 * Walker Dyson syndrome
 * Wallerian degeneration
 * Wallis Zieff Goldblatt syndrome
 * Wandering spleen
 * Warburg Sjo Fledelius syndrome
 * Warburg Thomsen syndrome
 * Warburton Anyane Yeboa syndrome
 * Warfarin antenatal infection
 * Warkany
 * Warman Mulliken Hayward syndrome
 * Warm-reacting-antibody hemolytic anemia
 * Watermelon stomach
 * Watson syndrome
 * Weaver Johnson syndrome
 * Weaver like syndrome
 * Weaver syndrome
 * Weaver Williams syndrome
 * Weber Parkes syndrome
 * Weber Sturge Dimitri syndrome
 * Weber-Christian disease
 * Webster Deming syndrome
 * Wegener's granulomatosis
 * Wegmann Jones Smith syndrome
 * Weil syndrome
 * Weinstein Kliman Scully syndrome
 * Weismann Netter Stuhl syndrome
 * Weissenbacher Zweymuller syndrome
 * Welander distal myopathy, Swedish type
 * Weleber Hecht Bigley syndrome
 * Wellesley Carmen French syndrome
 * Wells Jankovic syndrome
 * Wells syndrome
 * Werdnig-Hoffmann disease
 * Werner's syndrome
 * Wernicke Korsakoff syndrome
 * West syndrome
 * Westerhof Beemer Cormane syndrome
 * Western equine encephalitis
 * Westphall disease
 * Wheat Hypersensitivity
 * Whipple disease
 * Whitaker syndrome
 * White matter hypoplasia corpus callosum agenesia mental retardation
 * White sponge nevus of cannon
 * Whyte Murphy syndrome
 * Wieacker syndrome
 * Wiedemann Grosse Dibbern syndrome
 * Wiedemann Oldigs Oppermann syndrome
 * Wiedemann Opitz syndrome
 * Wiedemann Rautenstrauch syndrome
 * Wildervanck syndrome
 * Wilkes Stevenson syndrome
 * Wilkie Taylor Scambler syndrome
 * Willebrand disease, acquired
 * Willebrand disease
 * Willems De vries syndrome
 * Williams syndrome
 * Wilms tumor and pseudohermaphroditism
 * Wilms tumor radial bilateral aplasia
 * Wilms' tumor
 * Wilms tumor-aniridia
 * Wilson disease
 * Wilson Turner syndrome
 * Winchester syndrome
 * Winkelman Bethge Pfeiffer syndrome
 * Winship Viljoen Leary syndrome
 * Winter Harding Hyde syndrome
 * Winter Shortland Temple syndrome
 * Wisconsin syndrome
 * Wiskott Aldrich syndrome
 * Witkop syndrome
 * Wohlwill-Andrade syndrome
 * Wolcott-Rallison syndrome
 * Wolff-Parkinson-White syndrome
 * Wolf-Hirschorn syndrome
 * Wolfram syndrome
 * Wolman disease
 * Woodhouse Sakati syndrome
 * Woods Black Norbury syndrome
 * Woods Leversha Rogers syndrome
 * Woolly hair - autosomal recessive
 * Woolly hair autosomal recessive
 * Woolly hair hypotrichosis everted lower lip outstanding ears
 * Woolly hair palmoplantar keratoderma cardiac anomalies
 * Woolly hair, congenital
 * Wooly hair autosomal recessive
 * Wooly hair syndrome
 * Worster Drought syndrome
 * Worth syndrome
 * Wright Dick syndrome
 * Wrinkly skin syndrome
 * Writer's cramp
 * Wt limb blood syndrome
 * Wyburn-Mason's syndrome

X

 * X chromosome, duplication Xq13 1 q21 1
 * X chromosome, monosomy Xp22 pter
 * X chromosome, monosomy Xq28
 * X chromosome, trisomy Xp3
 * X chromosome, trisomy Xpter Xq13
 * X chromosome, trisomy Xq
 * X chromosome, trisomy Xq25
 * X fragile site folic acid type
 * Xanthic urolithiasis
 * Xanthine oxydase deficiency
 * Xanthinuria
 * Xanthomatosis cerebrotendinous
 * Xanthophobia
 * Xenoglossophobia
 * Xenophobia
 * Xerocytosis, hereditary
 * Xeroderma pigmentosum, type 1
 * Xeroderma pigmentosum, type 2
 * Xeroderma pigmentosum, type 3
 * Xeroderma pigmentosum, type 5
 * Xeroderma pigmentosum, type 6
 * Xeroderma pigmentosum, type 7
 * Xeroderma pigmentosum, variant type
 * Xeroderma pigmentosum
 * Xeroderma talipes enamel defects
 * Xerophobia
 * Xerostomia
 * Xk aprosencephaly
 * X-linked alpha thalassemia mental retardation syndrome (ATR-X)
 * X-linked dominant
 * X-linked ichthyosis
 * X-linked juvenile retinoschisis
 * X-linked juvenile retinoschisis
 * X-linked lymphoproliferative syndrome
 * X-linked mental retardation and macro-orchidism
 * X-linked mental retardation associated with marXq2
 * X-linked mental retardation Brooks type
 * X-linked mental retardation craniofacial abnormal microcephaly club
 * X-linked mental retardation De silva type
 * X-linked mental retardation Hamel type
 * X-linked mental retardation type Gustavson
 * X-linked mental retardation type Martinez
 * X-linked mental retardation type Raynaud
 * X-linked mental retardation type Schutz
 * X-linked mental retardation type Snyder
 * X-linked mental retardation type Wittner
 * X-linked mental retardation-hypotonia
 * X-linked severe combined immunodeficiency
 * X-linked trait
 * XX male syndrome
 * XY Female
 * XY gonadal agenesis syndrome
 * Xylophobia

Y

 * Y chromosome deletions
 * Yaws
 * Yellow fever
 * Yellow nail syndrome
 * Yersinia pestis disease
 * Yersiniosis
 * Yim Ebbin syndrome
 * Yolk sac tumor
 * Yorifuji Okuno syndrome
 * Yoshimura-Takeshita syndrome
 * Young Hugues syndrome
 * Young Maders syndrome
 * Young Mc keever Squier syndrome
 * Young Simpson syndrome
 * Young Syndrome
 * Yunis Varon syndrome
 * Yusho Disease

Z

 * Zadik Barak Levin syndrome
 * ZAP70 deficiency
 * Zazam Sheriff Phillips syndrome
 * Zellweger syndrome
 * Zimmerman Laband syndrome
 * Zlotogora syndrome
 * Zollinger-Ellison syndrome
 * Zonular cataract and nystagmus
 * Zori Stalker Williams syndrome
 * Zunich-Kaye syndrome
 * Zuska's Disease