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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
R edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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 edit
- 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