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Terms in Disease and Conditions
Disease and Conditions
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1
10q Partial trisomy rare
11 beta hydroxylase deficiency
11 beta hydroxysteroid dehydrogenase type 2 deficiency
17 Beta-hydroxysteroid dehydrogenase deficiency rare
17 alpha hydroxylase deficiency
17 beta hydroxysteroide dehydrogenase deficiency
18-Hydroxylase deficiency rare
18p syndrome rare
1p36 Deletion Syndrome rare
2
2-Hydroxyglutaricaciduria rare
2-Methylacetoacetyl CoA thiolase deficiency rare
2-hydroxyethyl methacrylate sensitization rare
2-hydroxyglutaricaciduria
21 hydroxylase deficiency
22q11.2 deletion syndrome rare
28 dihydroxy-adenine urolithiasis
3
3 alpha methylcrotonyl-Coa carboxylase 1 deficiency rare
3 alpha methylcrotonyl-coa carboxylase 2 deficiency rare
3 alpha methylglutaconic aciduria type 3 rare
3 beta hydroxysteroid dehydrogenase deficiency
3 hydroxyisobutyric aciduria
3 methylcrotonic aciduria
3 methylglutaconyl coa hydratase deficiency
3-Hydroxyisobutyric aciduria rare
3-hydroxy 3-methyl glutaryl-coa lyase deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
3-methyl crotonyl-coa carboxylase deficiency
3-methyl glutaconic aciduria
3C syndrome rare
3M syndrome rare
3c syndrome
3m syndrome
4
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency rare
4-hydroxyphenylacetic aciduria rare Optic atrophy
46 xx gonadal dysgenesis epibulbar dermoid
46XX Gonadal dysgenesis epibulbar dermoid rare
47 XXY syndrome
47 XYY syndrome rare see Klinefelter's syndrome
47 xyy syndrome
47XXX syndrome rare see Klinefelter's syndrome
48 xxxx syndrome
48 xxyy syndrome
49 xxxxx syndrome
49 xxxxy syndrome
49XXXXX syndrome rare see Klinefelter's syndrome
49XXXXY syndrome rare see Klinefelter's syndrome
5
5 alpha reductase 2 deficiency
5-Nucleotidase syndrome rare
5-alpha-Oxoprolinase deficiency rare
5q-syndrome rare
6
6 alpha mercaptopurine sensitivity rare
6-pyruvoyl-tetrahydropterin synthase deficiency rare
6-pyruvoyltetrahydropterin synthase deficiency
7
7-dehydrocholesterol reductase deficiency
A
ABCD syndrome
ACTH deficiency
ACTH resistance
AIDS
AIDS Dementia Complex
AIDS dysmorphic syndrome
AREDYLD
ATR-X
Aagenaes syndrome
Aarskog Ose Pande syndrome
Aarskog syndrome
Aase Smith syndrome
Aase syndrome
Abasia
Abdallat Davis Farrage syndrome
Abdominal aortic aneurysm
Abdominal cystic lymphangioma
Abdominal defects
Abdominal musculature absent microphthalmia joint laxity
Abdominal neoplasm / Abdominal neoplasms
Aberrant subclavian artery
Ablepharon macrostomia syndrome
Abnormal systemic venous return
Abruzzo Erickson syndrome
Absence of Gluteal muscle
Absence of tibia with polydactyly
Absent T lymphocytes
Absent corpus callosum cataract immunodeficiency
Acalvaria
Acanthocheilonemiasis
Acanthocytosis
Acanthocytosis chorea
Acanthosis nigricans
Acatalasemia
Accessory Navicular bone
Accessory deep peroneal nerve
Accessory pancreas
Achalasia
Achalasia alacrimia syndrome
Achalasia familial esophageal
Achalasia microcephaly
Achalasia-Addisonianism-Alacrima syndrome
Achard syndrome
Achard-Thiers syndrome
Acheiropodia
Achondrogenesis
Achondrogenesis Kozlowski type
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondroplasia
Achondroplasia Swiss type agammaglobulinemia
Achondroplastic dwarfism
Achromatopsia
Achromatopsia incomplete X-linked
Acid maltase deficiency
Acidemia isovaleric
Acidemia propionic
Acitretine antenatal infection
Ackerman syndrome
Acne
Acne rosacea
Acoustic neuroma
Acoustic schwannomas
Acquired Immune Deficiency Syndrome
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
Acrocephaly pulmonary stenosis mental retardation
Acrocyanosis
Acrodermatitis
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia
Acrodysplasia scoliosis
Acrofacial dysostosis
Acrofacial dysostosis Catania form
Acrofacial dysostosis Nager type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Preis type
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis Weyers type
Acrofacial dysostosis ambiguous genitalia
Acrofacial dysostosis atypical postaxial
Acrokeratoelastoidosis of Costa
Acromegaloid changes cutis verticis gyrata corneal
Acromegaloid facial appearance syndrome
Acromegaloid hypertrichosis syndrome
Acromegaly
Acromesomelic dysplasia
Acromesomelic dysplasia Brahimi Bacha type
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
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
Actinic keratosis
Actinomycetales causes anal infection
Actinomycosis
Activated protein C resistance
Acutane embryopathy
Acute anxiety
Acute articular rheumatism
Acute erythroblastic leukemia
Acute febrile neutrophilic dermatosis
Acute gouty arthritis
Acute idiopathic polyneuritis
Acute intermittent porphyria
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia congenital sporadic aniridia
Acute lymphocytic leukemia
Acute megakaryoblastic leukemia
Acute monoblastic leukemia
Acute monocytic 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 pancreatitis
Acute posterior multifocal placoid pigment epitheliopathy
Acute promyelocytic leukemia
Acute renal failure
Acute respiratory distress syndrome
Acute tubular necrosis
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 Esophagus
Adenocarcinoma of lung
Adenoid cystic carcinoma
Adenoma
Adenoma of the adrenal gland
Adenomelablastoma
Adenomyosis
Adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Adenosine triphosphatase deficiency anemia due to
Adenylosuccinate lyase deficiency
Adie syndrome
Adolescent benign focal crisis
Adrenal adenoma familial
Adrenal cancer
Adrenal disorder
Adrenal gland hyperfunction
Adrenal gland hypofunction
Adrenal hyperplasia
Adrenal hyperplasia congenital
Adrenal hypertension
Adrenal hypoplasia
Adrenal hypoplasia congenital X-linked
Adrenal incidentaloma
Adrenal insufficiency
Adrenal macropolyadenomatosis
Adrenal medulla neoplasm
Adrenocortical carcinoma
Adrenogenital syndrome
Adrenoleukodystrophy
Adrenoleukodystrophy X-linked
Adrenoleukodystrophy autosomal neonatal form
Adult Spinal Muscular Atrophy
Adult onset Still's disease
Adult syndrome
Advanced sleep phase syndrome
Afibrinogenemia
Agammaglobulinemia
Aganglionosis
Aganglionosis total intestinal
Aggressive fibromatosis
Aging
Agnathia
Agnathia holoprosencephaly situs inversus
Agnosia primary visual
Agoraphobia
Agyria
Agyria pachygyria polymicrogyria
Agyria-pachygyria type 1
Ahumada-Del Castillo syndrome
Aicardi syndrome
Aicardi-Goutières syndrome
Aichmophobia
Ainhum
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
Albinism deafness syndrome
Albinism immunodeficiency
Albinism minimal pigment type
Albinism ocular
Albinism ocular late onset sensorineural deafness
Albinism oculocutaneous Hermansky-Pudlak type
Albinism yellow mutant type
Albinoidism
Albrecht Schneider Belmont syndrome
Albright Turner Morgani syndrome
Albright's hereditary osteodystrophy
Albright's syndrome
Alcaptonuria
Alcohol antenatal infection
Alcohol fetopathy
Alcoholic hepatitis
Alcoholic liver cirrhosis
Alcoholism
Aldolase A deficiency
Aldred syndrome
Aleukemic leukemia cutis
Alexander disease
Alien hand syndrome
Alkaptonuria
Allain Babin Demarquez syndrome
Allan Herndon syndrome
Allanson Pantzar McLeod syndrome
Allergic angiitis
Allergic autoimmune thyroiditis
Allergic bronchopulmonary aspergillosis
Allergic encephalomyelitis
Aloi Tomasini Isaia syndrome
Alopecia
Alopecia anosmia deafness hypogonadism syndrome
Alopecia areata
Alopecia congenita keratosis palmoplantaris
Alopecia contractures dwarfism mental retardation
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia epilepsy pyorrhea mental subnormality
Alopecia hypogonadism extrapyramidal disorder
Alopecia immunodeficiency
Alopecia macular degeneration growth retardation
Alopecia mental retardation hypogonadism
Alopecia mental retardation syndrome
Alopecia totalis
Alopecia universalis
Alopecia universalis onychodystrophy vitiligo
Alpers disease
Alpha 1-antitrypsin deficiency
Alpha-2 deficient collagen disease
Alpha-L-iduronidase deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alpha-thalassemia
Alpha-thalassemia-abnormal morphogenesis
Alport syndrome
Alport syndrome dominant type
Alport syndrome macrothrombocytopenia
Alport syndrome recessive type
Alstrom's syndrome
Alternating hemiplegia
Alternating hemiplegia of childhood
Aluminium lung
Alveolar Capillary Dysplasia
Alveolar echinococcosis
Alveolar soft part sarcoma
Alveolitis extrinsic allergic
Alves Dos Santos Castello syndrome
Alzheimer disease familial
Alzheimer's disease
Amaurosis
Amaurosis congenita of Leber
Amaurosis congenita of Leber type 1
Amaurosis congenita of Leber type 2
Amaurosis hypertrichosis
Amblyopia
Ambral syndrome
Ambras syndrome
Amegakaryocytic thrombocytopenia
Amelia (birth defect)
Amelia X linked
Amelia cleft lip palate hydrocephalus iris coloboma
Amelia facial dysmorphism
Amelogenesis
Amelogenesis Imperfecta hypomaturation type
Amelogenesis imperfecta
Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta nephrocalcinosis
Ameloonychohypohidrotic syndrome
Amenorrhea
American trypanosomiasis
Amyotrophic lateral sclerosis
Anaphylaxis
Anaplastic thyroid cancer
Andersen's disease
Andre syndrome
Androgen insensitivity syndrome (AIS)
Anemia
Anemia Diamond-Blackfan
Anemia Hypoplastic Congenital
Anemia Pernicious
Anemia Sideroblastic
Anemia sideroblastic spinocerebellar ataxia
Anencephaly
Anencephaly spina bifida X linked
Aneurysm
Aneurysm intracranial berry
Aneurysm of sinus of Valsalva
Angel shaped phalangoep
Angiofollicular lymph hyperplasia
Angioimmunoblastic lymphadenopathy with dysproteinemia
Angiokeratoma mental retardation coarse face
Angiolipoma
Angioma
Angioma hereditary neurocutaneous
Angiomatosis
Angiomatosis encephalotrigeminal
Angiomatosis leptomeningeal capillary - venous
Angiomatosis systemic cystic seip syndrome
Angiomyomatous hamartoma
Angioneurotic edema hereditary due to C1 esterase deficiency
Angiosarcoma
Angiosarcoma of the liver
Angiosarcoma of the scalp
Angiostrongyliasis
Angiotensin renin aldosterone hypertension
Anguillulosis
Aniridia
Aniridia absent patella
Aniridia ataxia renal agenesis psychomotor retardation
Aniridia cerebellar ataxia mental deficiency
Aniridia mental retardation syndrome
Aniridia ptosis mental retardation obesity familial
Aniridia renal agenesis psychomotor retardation
Aniridia sporadic
Aniridia type 2
Anisakiasis
Ankle defects short stature
Ankyloblepharon 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
Ankylosis of teeth
Ankylostomiasis
Annular constricting bands
Annular pancreas
Annuloaortic ectasia
Anodontia
Anonychia
Anonychia ectrodactyly
Anonychia microcephaly
Anonychia onychodystrophy
Anonychia onychodystrophy brachydactyly type B
Anophthalia
Anophthalia pulmonary hypoplasia
Anophthalmia
Anophthalmia Waardenburg syndrome
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
Anophthalmos
Anophthalmos clinical
Anophthalmos with limb anomalies
Anorchia
Anorchidism
Anorectal anomalies
Anorectal atresia / Ano-rectal atresia
Anorexia nervosa
Anosmia
Anotia
Anotia facial palsy cardiac defect
Ansell Bywaters Elderking syndrome
Anterior horn disease
Anterior pituitary insufficiency familial
Anthrax
Anti-HLA hyperimmunization
Anti-factor VIII autoimmunization
Anti-plasmin deficiency
Anti-plasmin deficiency congenital
Antigen-peptide-transporter 2 deficiency
Antihypertensive drugs antenatal infection
Antinolo Nieto Borrego syndrome
Antiphospholipid syndrome
Antisocial personality disorder
Antisynthetase syndrome
Antithrombin deficiency congenital
Antley-Bixler syndrome
Anton syndrome
Aorta-pulmonary artery fistula
Aortic aneurysm
Aortic arch anomaly peculiar facies mental retardation
Aortic arch interruption
Aortic arches defect
Aortic coarctation
Aortic dissection
Aortic dissection lentiginosis
Aortic supravalvular stenosis
Aortic valve stenosis
Aortic valves stenosis of the child
Aortic window
Apert like polydactyly syndrome
Apert syndrome
Aphalangia
Aphalangia hemivertebrae
Aphalangia syndactyly microcephaly
Aphthous stomatitis
Apiphobia
Aplasia
Aplasia cutis autosomal recessive
Aplasia cutis congenita
Aplasia cutis congenita dominant
Aplasia cutis congenita epibulbar dermoids
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Aplasia cutis congenita recessive
Aplasia cutis myopia
Aplasia/hypoplasia of pelvis femur fibula and ulna with abnormal digits and nails
Aplastic anemia
Aplastic crisis
Apo A-I deficiency
Apolipoprotein C-II deficiency
Apparent mineralocorticoid excess
Appelt-Gerken-Lenz syndrome
Appendicitis
Apraxia
Apraxia Ideomotor
Apraxia manual
Apraxia ocular motor Cogan type
Apudoma
Aqueductal stenosis
Aqueductal stenosis X linked
Arachindonic acid absence of
Arachnodactyly
Arachnodactyly ataxia cataract aminoaciduria mental retardation
Arachnodactyly mental retardation dysmorphism
Arachnoid cysts
Arachnoiditis
Arakawa's syndrome II
Arbovirosis
Arc syndrome
Aredyld syndrome
Arginase deficiency
Arginemia
Argininosuccinate synthetase deficiency
Argininosuccinic aciduria
Argyria
Arhinia
Arhinia choanal atresia microphthalmia
Arnold Stickler Bourne syndrome
Arnold-Chiari malformation
Aromatase deficiency
Aromatic amino acid decarboxylase deficiency
Arrhinia
Arrhythmogenic right ventricular cardiomyopathy
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
Arthritis Juvenile
Arthritis short stature deafness
Arthrogryposis
Arthrogryposis IUGR thoracic dystrophy
Arthrogryposis due to muscular dystrophy
Arthrogryposis ectodermal dysplasia other anomalies
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis like disorder
Arthrogryposis like hand anomaly sensorineural
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita CNS calcification
Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita distal type 1
Arthrogryposis multiplex congenita distal type 2
Arthrogryposis multiplex congenita distal x-linked
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita pulmonary hypoplasia
Arthrogryposis multiplex congenita whistling face
Arthrogryposis ophthalmoplegia retinopathy
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis spinal muscular atrophy
Arylsulfatase A deficiency
Asbestosis
Ascariasis
Ascher's syndrome
Aseptic meningitis
Asherman's syndrome
Ashman phenomenon
Aspartylglycosaminuria
Asperger syndrome
Aspergillosis
Asphyxia neonatorum
Aspiration pneumonia
Asplenia
Astasia-abasia
Astasis
Asthenia
Asthma
Astrocytoma
Asymmetric septal hypertrophy
Ataxia
Ataxia Marie's
Ataxia telangiectasia
Ataxia telangiectasia variant V1
Atelectasis
Atelosteogenesis type II
Athabaskan brain stem dysgenesis
Atherosclerosis
Athetosis
Athlete's foot
Atopic Dermatitis
Atresia
Atresia of small intestine
Atrial myxoma
Atrial septal defect
Atrioventricular fistula
Atrioventricular septal defect
Atrophic vaginitis
Atrophoderma
Atrophoderma of Pierini and Pasini
Atrophy
Attention Deficit Hyperactivity Disorder
Attenuated FAP
Atypical lipodystrophy
Aughton syndrome
Ausems Wittebol Post Hennekam syndrome
Autism
Autoimmune hemolytic anemia
Autoimmune hepatitis
Autoimmune peripheral neuropathy
Autoimmune polyendocrinopathy syndrome type I
Autonomic dysfunction
Autonomic nervous system diseases
Axial mesodermal dysplasia
Axial mesodermal dysplasia spectrum
Axial osteomalacia
Axial osteosclerosis
Ayazi syndrome
anger irritation syndrome[ais]
B
B-cell lymphomas
BAER
BANF acoustic neurinoma
BOD syndrome
BOR syndrome
Baber's syndrome
Babesiosis
Bacterial endocarditis
Bacterial food poisoning
Bacterial gastroenteritis
Bacterial meningitis
Bacterial pneumonia
Bacterial vaginalis
Bagatelle Cassidy syndrome
Bahemuka Brown syndrome
Baker Vinters syndrome
Baker-Winegard syndrome
Balantidiasis
Ballard syndrome
Ballistophobia
Balo disease
Balo's concentric sclerosis
Bamforth syndrome
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
Bare lymphocyte syndrome 2
Baritosis
Barnicoat Baraitser syndrome
Barrett syndrome
Barrow Fitzsimmons syndrome
Barth syndrome
Bartonella infections
Bartsocas Papa syndrome
Bartter syndrome antenatal form
Bartter syndrome classic form
Basal cell carcinoma
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 Turner muscular dystrophy
Batten disease
Baughman syndrome
Bazex-Dupre-Christol syndrome
Bazopoulou Kyrkanidou syndrome
Bd syndrome
Beals syndrome
Beardwell 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
Bell's palsy
Bellini Chiumello Rinoldi syndrome
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 fasciculation syndrome
Benign lymphoma
Benign mucosal pemphigoid
Benign paroxysmal positional vertigo
Bentham Driessen Hanveld syndrome
Berardinelli-Seip congenital lipodystrophy
Berdon syndrome
Berger disease
Beriberi
Berlin Breakage syndrome
Berry aneurysm cirrhosis pulmonary emphysema and cerebral calcification
Berylliosis
Beta ketothiolase deficiency
Beta-galactosidase-1 deficiency
Beta-mannosidosis
Beta-sarcoglycanopathy
Beta-thalassemia (gene promoter involvement)
Beta-thalassemia major anemia
Bethlem myopathy
Bhaskar Jagannathan syndrome
Bickel Fanconi glycogenosis
Bicuspid aortic valve
Bidirectional tachycardia
Biemond syndrome
Biemond syndrome type 1
Biemond syndrome type 2
Biermer disease
Bifid nose dominant
Bilateral renal agenesis
Bilateral renal agenesis dominant type
Biliary atresia
Biliary atresia extrahepatic
Biliary atresia intrahepatic non syndromic form
Biliary atresia intrahepatic syndromic form
Biliary cirrhosis
Biliary hypoplasia
Biliary malformation renal tubular insufficiency
Biliary tract cancer
Billard Toutain Maheut syndrome
Billet Bear syndrome
Bindewald Ulmer Muller syndrome
Binswanger's disease
Biotinidase deficiency
Bipolar disorder
Bird headed dwarfism Montreal type
Birdshot chorioretinopathy
Birt-Hogg-Dube syndrome
Bixler Christian Gorlin syndrome
Bjornstad syndrome
Bladder neoplasm
Blaichman syndrome
Blastoma
Blastomycosis
Blepharitis
Blepharo cheilo dontic syndrome
Blepharo facio skeletal syndrome
Blepharo naso facial syndrome Van maldergem type
Blepharonasofacial malformation syndrome
Blepharophimosis
Blepharophimosis nasal groove growth retardation
Blepharophimosis ptosis epicanthus inversus
Blepharophimosis ptosis esotropia syndactyly short
Blepharophimosis ptosis syndactyly mental retardation
Blepharophimosis syndrome Ohdo type
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's disease
Blue cone monochromatism
Blue diaper syndrome
Blue rubber bleb nevus
Boder syndrome
Body dysmorphic disorder
Boil
Bone development disorder
Bone dysplasia Azouz type
Bone dysplasia Moore type
Bone dysplasia corpus callosum agenesis
Bone dysplasia lethal Holmgren type
Bone fragility craniosynostosis proptosis hydrocephalus
Bone marrow failure
Bone marrow failure neurologic abnormalities
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
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's disease or Bourneville-Pringle disease
Bowen syndrome
Bowen's disease
Bowen-Conradi syndrome
Bowenoid papulosis
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 Smorgasbord 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 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
Brachyolmia recessive Hobaek type
Brachytelephalangy characteristic facies Kallmann
Braddock Carey syndrome
Braddock Jones Superneau syndrome
Bradykinesia
Brain Neoplasms
Brain Stem Neoplasms
Brain cavernous angioma
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
Bronchiectasis oligospermia
Bronchiolitis obliterans with obstructive pulmonary disease
Bronchiolotis obliterans organizing pneumonia (BOOP)
Bronchitis Chronic
Bronchogenic cyst
Bronchopulmonary amyloidosis
Bronchopulmonary dysplasia
Brown syndrome
Brown-Séquard syndrome
Brucellosis
Bruck syndrome
Brugada syndrome
Brunoni syndrome
Bruton type agammaglobulinemia
Bruyn Scheltens syndrome
Bubonic plague
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
Burning mouth syndrome- Type 3
Buschke Ollendorff syndrome
Bustos Simosa Pinto Cisternas syndrome
Buttiens Fryns syndrome
Butyrylcholinesterase deficiency
Byssinosis
Bébé Collodion syndrome
C
C syndrome
C1 esterase deficiency (angioedema)
CACH syndrome
CAHMR syndrome
CATCH 22 syndrome
CCA syndrome
CCHS
CDG syndrome
CDG syndrome type 1A
CDG syndrome type 1B
CDG syndrome type 1C
CDG syndrome type 2
CDG syndrome type 3
CDG syndrome type 4
CDK4 linked melanoma
CHARGE Association
CHILD syndrome ichthyosis
CMV antenatal infection
COFS syndrome
CREST syndrome (Calcinosis Raynaud's Esophagus Sclerodactyly Telangiectasia)
Cacchi-Ricci disease
Cafe au lait spots syndrome
Caffey disease
Calcinosis cutis (see also CREST syndrome)
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
Campylobacter infection
Camurati Engelmann disease
Canavan leukodystrophy
Cancer
Candidiasis
Candidiasis familial chronic
Canga's bead symptom
Canine distemper
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
Caplan's syndrome
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
Carcinoma squamous cell of head and neck
Carcinophobia
Cardiac amyloidosis
Cardiac and laterality defects
Cardiac arrest
Cardiac conduction defect familial
Cardiac diverticulum
Cardiac hydatid cysts with intracavitary expansion
Cardiac malformation
Cardiac tamponade
Cardiac valvular dysplasia X-linked
Cardioauditory syndrome
Cardioauditory syndrome of Sanchez- Cascos
Cardiofacial syndrome short limbs
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathic lentiginosis
Cardiomyopathy X linked fatal infantile
Cardiomyopathy cataract hip spine disease
Cardiomyopathy diabetes deafness
Cardiomyopathy due to anthracyclines
Cardiomyopathy fatal fetal due to myocardial calcification
Cardiomyopathy hearing loss type t RNA lysine gene mutation
Cardiomyopathy hypertrophic: familial
Cardiomyopathy hypogonadism metabolic anomalies
Cardiomyopathy restrictive
Cardiomyopathy spherocytosis
Cardiomyopathy:
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
Carnosinase deficiency
Carnosinemia
Caroli disease
Carotenemia
Carotid artery dissection
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
Cartilage-hair hypoplasia
Cartilaginous neoplasms
Cartwright Nelson Fryns syndrome
Cassia Stocco Dos Santos syndrome
Castleman's disease
Castro Gago Pombo Novo syndrome
Cat Eye syndrome
Cat Rodrigues syndrome
Cat cry syndrome - see Cri du chat
Cat-scratch disease
Cataract Hutterite type
Cataract aberrant oral frenula growth retardation
Cataract alopecia sclerodactyly
Cataract anterior polar dominant
Cataract ataxia deafness
Cataract cardiomyopathy
Cataract congenital Volkmann type
Cataract congenital autosomal dominant
Cataract congenital dominant non nuclear
Cataract congenital with microcornea or slight microphthalmia
Cataract congenital with microphthalmia
Cataract dental syndrome
Cataract hypertrichosis mental retardation
Cataract mental retardation hypogonadism
Cataract microcornea syndrome
Cataract microphthalmia septal defect
Cataract skeletal anomalies
Cataract total congenital
Cataract-glaucoma
Cataractcongenital ichthyosis
Catecholamine hypertension
Catel Manzke syndrome
Caudal appendage deafness
Caudal duplication
Caudal regression syndrome
Causalgia
Cavernous hemangioma
Cavernous lymphangioma
Cavernous sinus thrombosisdicks get smaller
Cayler syndrome
Ccge syndrome
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 dominant pure
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebellar degeneration
Cerebellar degeneration subacute
Cerebellar hypoplasia
Cerebellar hypoplasia endosteal sclerosis
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar parenchymal degeneration
Cerebelloolivary atrophy
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy familial
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
Cerebral gigantism jaw cysts
Cerebral hypoxia
Cerebral malformations hypertrichosis claw hands
Cerebral palsy
Cerebral thrombosis -
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
Cerebro-costo-mandibular syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebroarthrodigital syndrome
Cerebroretinal vasculopathy
Ceroid lipofuscinois neuronal
Ceroid lipofuscinois neuronal 1 infantile
Ceroid lipofuscinois neuronal 2 late infantile
Ceroid lipofuscinois neuronal 3 juvenile
Ceroid lipofuscinois neuronal 4 adult type
Ceroid lipofuscinois neuronal 5 late infantile
Ceroid lipofuscinois neuronal 6 late infantile
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 Dorfman syndrome ichthyosis
Chanarin disease
Chancroid
Chandler's syndrome
Chands syndrome
Chang Davidson Carlson syndrome
Chaotic atrial tachycardia
Char syndrome
Charcot Marie Tooth disease
Charcot Marie Tooth disease deafness recessive type
Charcot Marie Tooth type 1 aplasia cutis congenita
Charcot Marie tooth disease deafness dominant type
Charcot Marie tooth disease deafness mental retardation
Charcot disease
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked type 2 recessive
Charcot-Marie-Tooth disease X-linked type 3 recessive
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 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 peroneal muscular atrophy X-linked
Charles' Disease
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
Chickenpox
Chikungunya
Childhood disintegrative disorder
Childhood pustular psoriasis
Chimerism
Chinese restaurant syndrome
Chitayat Haj Chahine syndrome
Chitayat Meunier Hodgkinson syndrome
Chitayat Moore Del Bigio syndrome
Chitty Hall Baraitser syndrome
Chitty Hall Webb syndrome
Chlamydia
Chlamydia pneumoniae
Chlamydia trachomatis
Chlamydial and Gonococcal Conjunctivitis
Choanal atresia deafness cardiac defects dysmorphia
Cholangiocarcinoma
Cholangitis primary sclerosing
Cholecystitis
Choledochal cyst hand malformation
Cholelithiasis
Cholemia familial
Cholera
Cholestasis
Cholestasis pigmentary retinopathy cleft palate
Cholestasis progressive familial intrahepatic
Cholestasis progressive familial intrahepatic 1
Cholestasis progressive familial intrahepatic 2
Cholestasis progressive familial intrahepatic 3
Cholestatic jaundice renal tubular insufficiency
Cholesterol ester storage disease
Cholesterol esterification disorder
Cholesterol pneumonia
Chondroblastoma
Chondrocalcinosis
Chondrocalcinosis familial articular
Chondrodysplasia Grebe type
Chondrodysplasia lethal recessive
Chondrodysplasia pseudohermaphrodism syndrome
Chondrodysplasia punctata
Chondrodysplasia punctata 1 x-linked recessive
Chondrodysplasia punctata Sheffield type
Chondrodysplasia punctata brachytelephalangic
Chondrodysplasia punctata with steroid sulfatase deficiency
Chondrodysplasia situs inversus imperforate anus polydactyly
Chondrodystrophy
Chondroectodermal dysplasia
Chondroma (benign)
Chondromalacia
Chondromatosis (benign)
Chondrosarcoma (malignant)
Chondrysplasia punctata humero-metacarpal type
Chordoma
Chorea
Chorea acanthocytosis
Chorea familial benign
Chorea minor
Choreoacanthocytosis amyotrophic
Choreoathetosis familial paroxysmal
Choriocarcinoma
Chorioretinitis
Chorioretinopathy dominant form microcephaly
Choroid plexus cyst
Choroid plexus neoplasms
Choroidal atrophy alopecia
Choroideremia
Choroideremia hypopituitarism
Choroiditis
Choroiditis serpiginous
Choroido cerebral calcification syndrome infantile
Christian Demyer Franken syndrome
Christian Johnson Angenieta syndrome
Christian syndrome
Christianson Fourie syndrome
Christmas disease
Chromhidrosis
Chromom-Chromop
Chromomycosis
Chromophobe renal carcinoma
Chromos Chromosoma
Chromosomal triplication
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 ring
Chromosome 1 trisomy 1q32 qter
Chromosome 1 trisomy 1q42 qter
Chromosome 1 uniparental disomy 1q12 q21
Chromosome 10 distal trisomy 10q
Chromosome 10 monosomy 10p
Chromosome 10 monosomy 10q
Chromosome 10 ring
Chromosome 10 trisomy 10p
Chromosome 10 trisomy 10pter p13
Chromosome 10 trisomy 10q
Chromosome 10 uniparental disomy of
Chromosome 10-Chromosome 12
Chromosome 10p terminal deletion syndrome
Chromosome 11 deletion 11p
Chromosome 11 partial trisomy 11q
Chromosome 11-14 translocation
Chromosome 11p partial deletion
Chromosome 11q partial deletion
Chromosome 11q trisomy
Chromosome 12 12p trisomy
Chromosome 12 ring
Chromosome 12 trisomy 12q
Chromosome 12p deletion
Chromosome 12p partial deletion
Chromosome 13 duplication
Chromosome 13 partial monosomy 13q
Chromosome 13 ring
Chromosome 13-Chromosome 15
Chromosome 13p duplication
Chromosome 13q deletion
Chromosome 13q trisomy
Chromosome 13q-mosaicism
Chromosome 14 deletion 14q partial duplication 14p
Chromosome 14 ring
Chromosome 14 trisomy
Chromosome 14 trisomy mosaic
Chromosome 14q partial deletions
Chromosome 14q proximal duplication
Chromosome 14q terminal deletion
Chromosome 14q terminal duplication
Chromosome 15 distal trisomy 15q
Chromosome 15 ring
Chromosome 15 trisomy mosaicism
Chromosome 15q partial deletion
Chromosome 15q tetrasomy
Chromosome 15q trisomy
Chromosome 16 trisomy
Chromosome 16 trisomy 16p
Chromosome 16 trisomy 16q
Chromosome 16 uniparental disomy
Chromosome 16-Chromosome 1q
Chromosome 17 deletion
Chromosome 17 deletion 17q23 q24
Chromosome 17 ring
Chromosome 17 trisomy
Chromosome 17 trisomy 17p
Chromosome 17 trisomy 17p11 2
Chromosome 17 trisomy 17q22
Chromosome 18 deletion 18q23
Chromosome 18 long arm deletion syndrome
Chromosome 18 monosomy 18p
Chromosome 18 mosaic monosomy
Chromosome 18 ring
Chromosome 18 tetrasomy 18p
Chromosome 18 trisomy
Chromosome 18 trisomy 18p
Chromosome 18 trisomy 18q
Chromosome 19 ring
Chromosome 19 trisomy 19q
Chromosome 1q duplication 1q12 q21
Chromosome 2 Trisomy 2p13 p21
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 2pter p24
Chromosome 2 trisomy 2q
Chromosome 2 trisomy 2q37
Chromosome 20 deletion 20p
Chromosome 20 duplication 20p
Chromosome 20 ring
Chromosome 20 trisomy
Chromosome 20-Chromosome 22
Chromosome 21 monosomy
Chromosome 21 monosomy 21q22
Chromosome 21 ring
Chromosome 21 tetrasomy 21q
Chromosome 21 uniparental disomy of
Chromosome 22 microdeletion 22 q11
Chromosome 22 monosome mosaic
Chromosome 22 ring
Chromosome 22 trisomy
Chromosome 22 trisomy mosaic
Chromosome 22 trisomy q11 q13
Chromosome 3 Trisomy 3q2
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 4 Trisomy 4p
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 ring
Chromosome 4 short arm deletion
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 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 ring
Chromosome 6 trisomy 6p
Chromosome 6 trisomy 6q
Chromosome 7 monosomy
Chromosome 7 monosomy 7q2
Chromosome 7 monosomy 7q21
Chromosome 7 monosomy 7q3
Chromosome 7 partial monosomy 7p
Chromosome 7 ring
Chromosome 7 trisomy 7p
Chromosome 7 trisomy 7p13 p12 2
Chromosome 7 trisomy 7q
Chromosome 7 trisomy mosaic
Chromosome 8 deletion
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 ring
Chromosome 8 trisomy
Chromosome 8 trisomy 8p
Chromosome 8 trisomy 8q
Chromosome 9 Ring
Chromosome 9 duplication 9q21
Chromosome 9 inversion or duplication
Chromosome 9 monosomy 9p
Chromosome 9 partial monosomy 9p
Chromosome 9 partial trisomy 9p
Chromosome 9 tetrasomy 9p
Chromosome 9 trisomy
Chromosome 9 trisomy 9q
Chromosome 9 trisomy 9q32
Chromosome 9 trisomy mosaic
Chromosomes 1 and 2 monosomy 2q duplication 1p
Chronic berylliosis
Chronic demyelinizing neuropathy with IgM monoclonal
Chronic erosive gastritis
Chronic fatigue immune dysfunction syndrome
Chronic fatigue syndrome
Chronic granulomatous disease
Chronic hiccup
Chronic infantile neurological cutaneous articular syndrome
Chronic inflammatory demyelinating polyneuropathy
Chronic lymphocytic leukemia
Chronic mountain sickness
Chronic myelogenous leukemia
Chronic myelomonocytic leukemia
Chronic necrotizing vasculitis
Chronic neutropenia
Chronic obstructive pulmonary disease
Chronic polyradiculoneuritis
Chronic recurrent multifocal osteomyelitis
Chronic renal failure
Chronic spasmodic dysphonia
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
Cinchonism
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
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 lower lip cleft lateral canthi chorioretinal
Cleft palate
Cleft palate X linked
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 tongue syndrome
Cleft upper lip median cutaneous polyps
Clefting ectropion conical teeth
Cleidocranial dysplasia
Cleidocranial dysplasia micrognathia absent thumbs
Cloacal exstrophy
Clouston syndrome
Cloverleaf skull bone dysplasia
Cloverleaf skull micromelia thoracic dysplasia
Clubfoot
Cluster headache
Coach syndrome
Coal workers' pneumoconiosis
Coarctation of aorta dominant
Coarse face hypotonia constipation
Coats disease
Cocaine antenatal infection
Cocaine fetopathy
Coccidioidomycosis
Cochin Jewish Disorder
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Cockayne's syndrome
Codas syndrome
Coeliac disease
Coenzyme Q cytochrome c reductase deficiency of
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cogan syndrome
Cogan-Reese 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
Colitis
Collagen disorder
Collagenous colitis
Collins Pope syndrome
Collins Sakati syndrome
Coloboma chorioretinal cerebellar vermis aplasia
Coloboma hair abnormality
Coloboma ocular
Coloboma of choroid and retina
Coloboma of eye lens
Coloboma of iris
Coloboma of lens ala nasi
Coloboma of macula
Coloboma of macula type B brachydactyly
Coloboma of optic nerve
Coloboma of optic papilla
Coloboma porencephaly hydronephrosis
Coloboma uveal with cleft lip palate and mental retardation
Colobomata unilobar lung heart defect
Colobomatous microphthalmia
Colobomatous microphthalmia heart disease hearing
Colon cancer familial nonpolyposis
Colonic atresia
Colonic malakoplakia
Color blindness
Colorado tick fever
Colver Steer Godman syndrome
Combarros Calleja Leno syndrome
Combined hyperlipidemia familial
Common cold
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
Complex regional pain syndrome
Conductive deafness malformed external ear
Conductive hearing loss
Condyloma
Condyloma acuminatum
Cone dystrophy
Cone rod dystrophy
Cone rod dystrophy amelogenesis imperfecta
Congenital absence of the uterus and vagina
Congenital adrenal hyperplasia
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 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
Congenital ichthyosis microcephalus quadriplegia
Congenital ichtyosiform erythroderma
Congenital insensitivity to pain
Congenital insensitivity to pain with anhidrosis
Congenital kidney disorder
Congenital limb deficiency
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
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
Congestive heart disease
Conjunctivitis
Conjunctivitis ligneous
Conjunctivitis with Pseudomembrane
Conn's syndrome
Connective tissue dysplasia Spellacy type
Connexin 26 anomaly
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
Convulsions benign familial neonatal dominant form
Cooks syndrome
Cooley's anemia
Copper deficiency familial benign
Copper transport disease
Coproporhyria
Cor biloculare
Cor pulmonale
Cor triatriatum
Cormier Rustin Munnich syndrome
Corneal anesthesia deafness mental retardation
Corneal cerebellar syndrome
Corneal crystals myopathy neuropathy
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
Coronary heart disease
Corpus callosum agenesis
Corpus callosum dysgenesis
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
Costochondritis (otherwise Costal chondritis)
Costocoracoid ligament congenitally short
Cote Adamopoulos Pantelakis syndrome
Cote Katsantoni syndrome
Count Choculitis
Cousin Walbraum Cegarra syndrome
Covesdem syndrome
Cowchock Wapner Kurtz syndrome
Cowden's disease
Cowpox
Coxoauricular syndrome
Cramer Niederdellmann syndrome
Cramp
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
Craniofacial dysostosis arthrogryposis progeroid appearance
Craniofacial dysynostosis
Craniofaciocardioskeletal syndrome
Craniofaciocervical osteoglyphic dysplasia
Craniofrontonasal dysplasia
Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia dominant type
Craniometaphyseal dysplasia recessive type
Craniomicromelic syndrome
Craniostenosis
Craniostenosis cataract
Craniostenosis with congenital heart disease mental retardation
Craniosynostosis
Craniosynostosis Fontaine type
Craniosynostosis Maroteaux Fonfria type
Craniosynostosis Philadelphia type
Craniosynostosis Warman type
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 mental retardation clefting syndrome
Craniosynostosis mental retardation heart defects
Craniosynostosis radial aplasia syndrome
Craniosynostosis sagittal with Dandy-Walker malformation and hydrocephalus
Craniosynostosis synostoses hypertensive nephropathy
Craniotelencephalic dysplasia
Crawfurd syndrome
Creatine deficiency
Creeping disease
Cretinism
Cretinism athyreotic
Creutzfeldt-Jakob disease
Cri du chat
Crigler-Najjar syndrome
Crisponi syndrome
Criss cross syndrome
Criswick-Schepens syndrome
Crohn's disease
Crohn's disease of the esophagus
Crome syndrome
Cronkhite-Canada disease
Crossed polydactyly type 1
Crossed polysyndactyly
Croup
Crouzon syndrome
Crouzonodermoskeletal syndrome
Crow-Fukase syndrome
Cryoglobulinemia
Cryophobia
Cryptococcosis
Cryptogenic organized pneumopathy
Cryptomicrotia brachydactyly syndrome
Cryptomicrotia brachydactyly syndrome excess fingers
Cryptophthalmos-syndactyly syndrome
Cryptorchidism arachnodactyly mental retardation
Cryroglobulinemia
Crystal deposit disease
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 T-cell lymphoma
Cutaneous anthrax
Cutaneous larva migrans
Cutaneous lupus erythematosus
Cutaneous photosensitivity colitis lethal
Cutaneous vascularitis
Cutis Gyrata syndrome of Beare and Stevenson
Cutis gyratum acanthosis nigricans craniosynostosis
Cutis laxa
Cutis laxa corneal clouding mental retardation
Cutis laxa dominant type
Cutis laxa osteoporosis
Cutis laxa recessive
Cutis laxa recessive type 1
Cutis laxa recessive type 2
Cutis laxa with joint laxity and retarded development
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Cutis verticis gyrata mental deficiency
Cutis verticis gyrata thyroid aplasia mental retardation
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
Cystic fibrosis gastritis megaloblastic anemia
Cystic hamartoma of lung and kidney
Cystic hygroma
Cystic hygroma lethal cleft palate
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
cortical dysplasia
D
D ercole syndrome
D-glycerate dehydrogenase deficiency
D-glycericacidemia
D-minus hemolytic uremic syndrome
D-plus hemolytic uremic syndrome
DOPA-responsive dystonia
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 syndrome
Dandy-walker malformation with mental retardation basal ganglia disease and seizures
Dandy-walker malformation with mental retardation macrocephaly myopia and brachytelephalangy
Daneman Davy Mancer syndrome
Darier's disease
Davenport Donlan syndrome
David syndrome
Davis Lafer syndrome
Daylon Disease
Dazippafalldown syndrome
De Barsy syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione syndrome
Deaf blind hypopigmentation
Deafness X linked DFN
Deafness X-linked DFN3
Deafness autosomal dominant nonsyndromic sensorineural
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 isolated due to mitochondrial transmission
Deafness mesenteric diverticula of small bowel neuropathy
Deafness mixed with perilymphatic Gusher X-linked
Deafness nephritis ano rectal malformation
Deafness neurosensory nonsyndromic recessive DFN
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
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 'en cocarde' erythrokeratoderma
Degos disease
Dehydratase deficiency
Dejerine-Sottas disease
Delayed membranous cranial ossification
Delayed sleep phase syndrome
Delayed speech facial asymmetry strabismus ear lobe creases
Deletion 6q16 q21
Delleman Oorthuys syndrome
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
Delta-sarcoglycanopathy
Dementia familial British
Dementia progressive lipomembranous polycysta
Demodicidosis
Demyelinating disease
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 coronal
Dentin dysplasia radicular
Dentin dysplasia sclerotic bones
Dentinogenesis imperfecta
Dentophobia
Depersonalization disorder
Depression (clinical)
Der Kaloustian Mcintosh Silver syndrome
Der kaloustian Jarudi Khoury syndrome
Dercum's disease aka Adiposis dolorosa
Dermal Dysplasia
Dermatitis herpetiformis
Dermatocardioskeletal syndrome Boronne type
Dermatofibroma
Dermatographic urticaria
Dermatoleukodystrophy
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatophytids
Dermatophytosis
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Desbuquois syndrome
Desmin Related Myopathy
Desmoid disease
Desmoid tumor
Desmoplastic small round cell tumor
Developmental delay hypotonia extremities hypertrophy
Developmental dysphasia familial
Devic syndrome
Devriendt Legius Fryns syndrome
Devriendt Vandenberghe Fryns syndrome
Dexamethasone sensitive hypertension
Dextrocardia
Dextrocardia with situs inversus
Dextrocardia-bronchiectasis-sinusitis
DiGeorge syndrome
Diabetes hypogonadism deafness mental retardation
Diabetes insipidus
Diabetes insipidus diabetes mellitus optic atrophy
Diabetes insipidus nephrogenic dominant type
Diabetes insipidus nephrogenic recessive type
Diabetes insipidus nephrogenic type 1
Diabetes insipidus nephrogenic type 2
Diabetes insipidus nephrogenic type 3
Diabetes insulin dependent
Diabetes mellitus
Diabetes mellitus transient neonatal
Diabetes persistent mullerian ducts
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 congenital
Diaphragmatic hernia exomphalos corpus callosum agenesis
Diaphragmatic hernia upper limb defects
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
Diffuse parenchymal lung disease
Digestive duplication
Digitorenocerebral syndrome
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy
Dilated cardiomyopathy: Cardiomyopathy dilated with conduction defect type 1 Cardiomyopathy dilated with conduction defect type 2 Cardiomyopathy familial dilated
Dimitri Sturge Weber syndrome
Dincsoy Salih Patel syndrome
Dinno Shearer Weisskopf syndrome
Diomedi Bernardi Placidi syndrome
Dionisi Vici Sabetta Gambarara syndrome
Diphallia
Diphallus rachischisis imperforate anus
Diphosphoglycerate mutase deficiency of erythrocyte
Diphtheria
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 amnesia
Dissociative fugue
Dissociative hysteria
Dissociative identity disorder
Distal arthrogryposis Moore Weaver type
Distal myopathy
Distal myopathy Markesbery-Griggs type
Distal myopathy Nonaka type
Distal myopathy with vocal cord weakness
Distal primary acidosis familial
Distemper
Distichiasis heart congenital anomalies
Distomatosis
Diverticulitis
Diverticulosis
Dk phocomelia syndrome
Dobrow syndrome
Dominant cleft palate
Dominant ichthyosis vulgaris
Dominant zonular cataract
Donnai Barrow syndrome
Door syndrome
Dopamine beta-hydroxylase deficiency
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
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
Duodenal atresia tetralogy of Fallot
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
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
Dyggve-Melchior-Clausen syndrome
Dykes Markes Harper syndrome
Dysautonomia
Dysbarism
Dyschondrosteosis nephritis
Dyschromatosis universalis
Dysencephalia splachnocystica or Meckel Gruber
Dysequilibrium syndrome
Dyserythropoietic anemia congenital
Dyserythropoietic anemia congenital type 1
Dyserythropoietic anemia congenital type 2
Dyserythropoietic anemia congenital type 3
Dysferlinopathy
Dysfibrinogenemia familial
Dysgerminoma
Dysharmonic skeletal maturation muscular fiber disproportion
Dyskeratosis congenita
Dyskeratosis congenita of Zinsser Cole Engman
Dyskeratosis follicularis
Dyskinesia
Dyskinesia drug induced
Dysmorphism abnormal vocalization mental retardation
Dysmorphism cleft palate loose skin
Dysmorphophobia
Dysmyelination
Dysosteosclerosis
Dysostosis
Dysostosis Stanescu type
Dysostosis acral with facial and genital abnormalities
Dysostosis peripheral
Dysphasic dementia hereditary
Dysphonia chronic spasmodic
Dysplasia
Dysplasia epiphysealis hemimelica
Dysplastic cortical hyperostosis
Dysplastic nevus syndrome
Dysprothrombinemia
Dysraphism cleft lip palate limb reduction defects
Dyssegmental dysplasia Silverman Handmaker type
Dyssegmental dysplasia glaucoma
Dysthymia
Dystonia
Dystonia musculorum deformans
Dystonia musculorum deformans type 1
Dystonia musculorum deformans type 2
Dystonia progressive with diurnal variation
Dystrophia myotonica
Dystrophic epidermolysis bullosa
Dystrophinopathy
E
EAF
EPP (erythropoietic protoporphyria)
Eales disease
Ear patella short stature syndrome
Earlobes thickened conductive deafness
Ebola hemorrhagic fever
Ebstein's anomaly
Eccentrochondrodysplasia
Eccrine acrospiroma
Eclampsia
Ecp syndrome
Ectodermal Dysplasia
Ectodermal dysplasia Bartalos type
Ectodermal dysplasia Berlin type
Ectodermal dysplasia Margarita type
Ectodermal dysplasia absent dermatoglyphics
Ectodermal dysplasia adrenal cyst
Ectodermal dysplasia alopecia preaxial polydactyly
Ectodermal dysplasia anhidrotic
Ectodermal dysplasia arthrogryposis diabetes mellitus
Ectodermal dysplasia blindness
Ectodermal dysplasia ectrodactyly macular dystrophy
Ectodermal dysplasia hydrotic
Ectodermal dysplasia hypohidrotic autosomal dominant
Ectodermal dysplasia hypohidrotic autosomal recessive
Ectodermal dysplasia hypohidrotic hypothyroidism ciliary dyskinesia
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 dysplasias
Ectodermic dysplasia anhidrotic cleft lip
Ectopia cordis
Ectopia lentis isolated
Ectopia pupillae
Ectopic coarctation
Ectopic ossification familial type
Ectopic pregnancy
Ectrodactyly
Ectrodactyly cardiopathy dysmorphism
Ectrodactyly cleft palate syndrome
Ectrodactyly diaphragmatic hernia corpus callosum
Ectrodactyly dominant form
Ectrodactyly ectrodermal dysplasia
Ectrodactyly polydactyly
Ectrodactyly recessive form
Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
Ectrodactyly-ectodermal dysplasia-cleft syndrome
Ectropion inferior cleft lip and or palate
Eczema
Edinburgh malformation syndrome
Edwards Patton Dilly syndrome
Edwards syndrome
Eec syndrome
Eec syndrome without cleft lip palate
Eem syndrome
Egg hypersensitivity
Egg shaped pupils
Ehlers-Danlos syndrome
Ehrlichiosis
Eijkman's syndrome
Eiken syndrome
Eisenmenger syndrome
Elattoproteus in context of NF
Elective mutism
Electron transfer flavoprotein deficiency of
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
Emery-Dreifuss muscular dystrophy X-linked
Emery-Dreifuss muscular dystrophy dominant type
Emetophobia
Emphysema
Emphysema congenital lobar
Emphysema-penoscrotal web-deafness-mental retardation
Empty sella syndrome
Enamel hypoplasia cataract hydrocephaly
Encephalitis
Encephalitis lethargica
Encephalo cranio cutaneous lipomatosis
Encephalocele
Encephalocele anencephaly
Encephalocele anterior
Encephalocele frontal
Encephalomyelitis
Encephalomyelitis Myalgic
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 calfness
Enchondromatosis dwarfism deafness
Endocardial fibroelastosis
Endocarditis
Endocarditis infective
Endocrinopathy
Endometrial stromal sarcoma
Endometriosis
Endomyocardial fibroelastosis
Endomyocardial fibrosis
Enetophobia
Eng Strom syndrome
Engelhard Yatziv syndrome
Englemann disease
Enolase deficiency
Enolase deficiency type 1
Enolase deficiency type 2
Enolase deficiency type 3
Enolase deficiency type 4
Enterobiasis
Enteropathica
Enterovirus antenatal infection
Envenomization by bothrops lanceolatus
Envenomization by the Martinique lancehead viper
Environment associated hypertension
Eosinophilia-myalgia syndrome
Eosinophilic Pustular Folliculitis
Eosinophilic cryptitis
Eosinophilic cystitis
Eosinophilic fasciitis
Eosinophilic gastroenteritis
Eosinophilic granuloma
Eosinophilic lymphogranuloma
Eosinophilic synovitis
Eosophobia
Ependymoblastoma
Ependymoma
Epicondylitis
Epidemic encephalitis
Epidemic encephalomyelitis
Epidermal nevus vitamin D resistant rickets
Epidermo Epidermod-Epidermoi
Epidermodysplasia verruciformis
Epidermoid carcinoma
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa dermolytic
Epidermolysis bullosa dystrophica Bart type
Epidermolysis bullosa dystrophica dominant type
Epidermolysis bullosa generalized atrophic benign
Epidermolysis bullosa herpetiformis Dowling-Meara
Epidermolysis bullosa intraepidermic
Epidermolysis bullosa inversa dystrophica
Epidermolysis bullosa junctional
Epidermolysis bullosa junctional Herlitz-Pearson
Epidermolysis bullosa junctional with pyloric atrophy
Epidermolysis bullosa pretibial
Epidermolysis bullosa simplex Cockayne-Touraine type
Epidermolysis bullosa simplex Koebner type
Epidermolysis bullosa simplex Ogna type
Epidermolysis bullosa simplex with anodontia hair
Epidermolytic hyperkeratosis
Epidermolytic palmoplantar keratoderma Vorner type
Epididymitis
Epilepsy
Epilepsy benign neonatal dominant form
Epilepsy benign neonatal recessive form
Epilepsy benign occipital
Epilepsy juvenile absence
Epilepsy mental deterioration Finnish type
Epilepsy microcephaly skeletal dysplasia
Epilepsy myoclonic progressive familial
Epilepsy nocturnal frontal lobe type
Epilepsy occipital calcifications
Epilepsy partial familial
Epilepsy progressive myoclonic type 2
Epilepsy telangiectasia
Epilepsy with myoclono-astatic crisis
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
Epithelial-myoepithelial carcinoma
Epitheliopathy (APMPPE)
Epitheliopathy acute posterior multifocal placoid
Epstein barr virus mononucleosis
Epstein syndrome
Equinophobia
Erb-Duchenne palsy
Erdheim disease
Erdheim–Chester disease
Ergophobia
Eronen Somer Gustafsson syndrome
Erosive pustular dermatosis of the scalp
Erysipelas
Erythema multiforme
Erythema nodosum
Erythermalgia
Erythroblastopenia
Erythroderma desquamativa of Leiner
Erythroderma lethal congenital
Erythrokeratodermia ataxia
Erythrokeratodermia progressive symmetrica ichthyosis
Erythrokeratodermia symmetrica progressiva
Erythrokeratodermia variabilis Mendes da Costa type
Erythrokeratodermia variabilis ichthyosis
Erythrokeratodermia with ataxia
Erythrokeratolysis hiemalis ichthyosis
Erythromelalgia
Erythroplakia
Erythropoietic protoporphyria
Escher Hirt syndrome
Esophageal atresia
Esophageal atresia associated anomalies
Esophageal atresia coloboma talipes
Esophageal disorder
Esophageal duodenal atresia abnormalities of hands
Esophageal neoplasm
Esophageal varices
Esotropia
Essential hypertension
Essential iris atrophy
Essential mixed cryoglobulinemia
Essential thrombocythemia - synonym of Essential thrombocytosis
Essential thrombocytopenia
Essential thrombocytosis
Esthesioneuroblastoma
Ethylmalonic aciduria
Ethylmalonic adipic aciduria
Euhidrotic ectodermal dysplasia
Eunuchoidism familial
Evan's syndrome
Ewing's Sarcoma
Exencephaly
Exercise induced anaphylaxis
Exfoliative dermatitis
Exner syndrome
Exogenous lipoid pneumonia
Exomphalos-macroglossia-gigantism syndrome
Exophthalmos
Exostoses
Exostoses anetodermia brachydactyly type E
Exostoses multiple
Exostoses multiple type 1
Exostoses multiple type 2
Exostoses multiple type 3
Experimental allergic encephalomyelitis
Exploding head syndrome
Exstrophy of the bladder
Exstrophy of the bladder-epispadias
Extrapyramidal disorder
Extrasystoles short stature hyperpigmentation microcephaly
Exudative retinopathy familial
Exudative retinopathy familial X linked recessive
Exudative retinopathy familial autosomal dominant
Exudative retinopathy familial autosomal recessive
Eye defects arachnodactyly cardiopathy
Eyebrows duplication syndactyly
F
FG syndrome
FRAXA syndrome
FRAXD
FRAXE syndrome
Fabry's disease
Faces syndrome
Facial asymmetry 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 Leiden mutation
Factor V deficiency
Factor VII deficiency
Factor VIII deficiency
Factor X deficiency
Factor X deficiency congenital
Factor XI deficiency congenital
Factor XIII deficiency
Factor XIII deficiency congenital
Fahr's disease
Fairbank disease
Fallot tetralogy
Familial Cold Autoinflamatory Syndrome (FCAS)
Familial Colorectal Cancer
Familial Mediterranean fever
Familial Treacher Collins syndrome
Familial adenomatous polyposis
Familial amyloid polyneuropathy
Familial aortic dissection
Familial band heterotopia
Familial deafness
Familial dilated cardiomyopathy
Familial dysautonomia
Familial emphysema
Familial hyperchylomicronemia
Familial hyperlipoproteinemia
Familial hyperlipoproteinemia type I
Familial hyperlipoproteinemia type III
Familial hyperlipoproteinemia type IV
Familial hypersensitivity pneumonitis
Familial hypertension
Familial hypopituitarism
Familial hypothyroidism
Familial intestinal polyatresia syndrome
Familial multiple lipomatosis
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 veinous malformations
Familial ventricular tachycardia
Familial visceral myopathy
Familial wilms tumor 2
Fan death
Fanconi Bickel syndrome
Fanconi anemia type 1
Fanconi anemia type 2
Fanconi anemia type 3
Fanconi ichthyosis dysmorphism
Fanconi like syndrome
Fanconi pancytopenia
Fanconi syndrome
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 syndrome
Felty's Syndrome
Female pseudohermaphrodism Genuardi type
Female pseudohermaphroditism
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
Fiber type disproportion congenital
Fibrinogen deficiency congenital
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrolipomatosis
Fibroma
Fibromatosis
Fibromatosis gingival hypertrichosis
Fibromatosis multiple non ossifying
Fibromuscular dysplasia
Fibromuscular dysplasia of arteries
Fibromyalgia
Fibrosarcoma
Fibrosing Mediastinitis
Fibrosing alveolitis
Fibrosis
Fibrous dysplasia
Fibrous dysplasia of bone
Fibula aplasia complex brachydactyly
Fibular aplasia ectrodactyly
Fibular hypoplasia femoral bowing oligodactyly
Fibular hypoplasia scapulo pelvic dysplasia absent
Fifth disease
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 limb syndrome
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-Alajouanine syndrome
Foix-Chavany-Marie syndrome
Follicular Dendritic Cell Tumor
Follicular atrophoderma-basal cell carcinoma
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
Fragile X syndrome type 1
Fragile X syndrome type 2
Fragile X syndrome type 3
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
Free sialic acid storage disease
Freeman-Sheldon syndrome
Freiberg's disease
Freire Maia Pinheiro Opitz syndrome
Freire Maia odontotrichomelic 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
Froelich's syndrome
Fronto nasal malformation cloacal exstrophy
Fronto-facio-nasal dysplasia
Frontofacionasal dysplasia type Al gazali
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia acromelic
Frontonasal dysplasia klippel feil syndrome
Frontonasal dysplasia phocomelic upper limbs
Frontotemporal dementia
Froster Iskenius Waterson syndrome
Froster huch syndrome
Fructose intolerance
Fructose-1-phosphate aldolase deficiency heredita
Fructose-16-bisphosphatase deficiency
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
Frölich's syndrome
Fucosidosis
Fucosidosis type 1
Fuhrmann Rieger De sousa syndrome
Fukuda Miyanomae Nakata syndrome
Fukuyama type muscular dystrophy
Fumarase deficiency
Fumaric aciduria
Functioning pancreatic endocrine tumor
Fuqua Berkovitz syndrome
Furlong Kurczynski Hennessy syndrome
Furukawa Takagi Nakao syndrome
Furunculous myiasis
Fused mandibular incisors
G
G syndrome
GAPO syndrome
GM2 gangliosidosis 0 variant
GM2-gangliosidosis B B1 AB variant
GTP cyclohydrolase deficiency
Galactocoele
Galactokinase deficiency
Galactorrhea
Galactorrhoea-Hyperprolactinaemia
Galactosamine-6-sulfatase deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia
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
Garcia Torres Guarner syndrome
Gardner Morrisson Abbot syndrome
Gardner Silengo Wachtel syndrome
Gardner's syndrome
Gardner-Diamond syndrome
Garret Tripp syndrome
Gas/bloat syndrome
Gastric Dumping Syndrome
Gastric lymphoma
Gastritis familial giant hypertrophic
Gastro-enteropancreatic neuroendocrine tumor
Gastrocutaneous syndrome
Gastroenteritis eosinophilic
Gastroesophageal reflux
Gastrointestinal autonomic nerve tumor
Gastrointestinal neoplasm
Gaucher Disease
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher ichthyosis restrictive dermopathy
Gaucher's disease
Gaucher-like disease
Gay Feinmesser Cohen syndrome
Geen Sandford Davison syndrome
Gelatinous ascites
Geleophysic dwarfism
Gelineau disease
Geliphobia
Gemignani syndrome
Gemss 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
Genital dwarfism Turner type
Genito palatocardiac syndrome
Genu valgum st. Helena familial
Genu varum
Genuphobia
Genée-Wiedemann syndrome
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
Gibson's Syndrome
Giedion syndrome
Gigantism
Gigantism advanced bone age hoarse cry
Gigantism partial nevi hemihypertrophy macrocephaly
Gilbert's syndrome
Gilles de la Tourette's syndrome
Gingival fibromatosis dominant
Gingival fibromatosis facial dysmorphism
Gingival fibrosis
Gingivitis
Girate atrophy of choroid and retina
Gitelman syndrome
Gittings syndrome
Glanzmann thrombasthenia
Glass Chapman Hockley syndrome
Glaucoma congenital
Glaucoma ecopia microspherophakia stiff joints short stature
Glaucoma hereditary
Glaucoma hereditary adult type 1A
Glaucoma hereditary juvenile type 1B
Glaucoma iridogoniodysgenesia
Glaucoma primary infantile type 3A
Glaucoma primary infantile type 3B
Glaucoma sleep apnea
Glaucoma type 1C
Glioblastoma
Glioblastoma multiforme
Glioma
Gliomatosis cerebri
Gliosarcoma
Globel disaccharide intolerance
Glomerulonephritis
Glomerulonephritis sparse hair telangiectases
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-14-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
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 0
Glycogenosis type II
Glycogenosis type III
Glycogenosis type IV
Glycogenosis type V
Glycogenosis type VI
Glycogenosis type VII
Glycogenosis type VIII
Glycosuria
Gms syndrome
Goitre
Goldberg Bull syndrome
Goldberg syndrome
Goldblatt Viljoen syndrome
Goldblatt Wallis Zieff syndrome
Goldblatt Wallis syndrome
Goldenhar syndrome
Goldskag Cooks Hertz syndrome
Goldstein Hutt syndrome
Gollop Coates syndrome
Gollop syndrome
Goltz syndrome
Gombo syndrome
Gomez and López-Hernández syndrome
Gonadal dysgenesis
Gonadal dysgenesis Turner type
Gonadal dysgenesis XX type
Gonadal dysgenesis XY female type
Gonadal dysgenesis XY type associated anomalies
Gonadal dysgenesis mixed
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's disease
Gorham-Stout disease
Gorlin Bushkell Jensen syndrome
Gorlin Chaudhry Moss syndrome
Gottron's syndrome
Gougerot-Blum 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
Guanidinoacetate methyltransferase deficiency
Guibaud Vainsel syndrome
Guillain-Barré syndrome
Guizar Vasquez Luengas syndrome
Guizar Vasquez Sanchez Manzano syndrome
Gunal Seber Basaran syndrome
Gupta Patton syndrome
Gurrieri Sammito Bellussi syndrome
Gusher syndrome
Guérin-Stern syndrome
Gymnophobia
Gyrate atrophy
Gyrate atrophy of the retina
H
HELLP syndrome
HEM dysplasia
HHH syndrome
HIV
HMG CoA lyase deficiency
HMG CoA synthetase deficiency
HSV-2 infection
Hageman factor deficiency
Hagemoser Weinstein Bresnick syndrome
Hailey-Hailey disease
Hair defect with photosensitivity and mental retardation
Hairy cell leukemia
Hairy ears
Hairy ears y-linked
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 syndrome
Hallervorden-Spatz disease
Hallux valgus
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-Schuller-Christian disease
Hand-foot-mouth disease
Hanhart syndrome
Harding ataxia
Harlequin type ichthyosis
Harpaxophobia
Harrod Doman Keele syndrome
Hartnup disease
Hartsfield Bixler Demyer syndrome
Hashimoto struma
Hashimoto's thyroiditis
Hashimoto-Pritzker 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
Heart block progressive familial
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
Helmerhorst Heaton Crossen syndrome
Helminthiasis
Hemangioblastoma
Hemangioendothelioma
Hemangioma
Hemangioma capillary infantile
Hemangioma thrombocytopenia syndrome
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 proctocolitis
Hemorrhagic thrombocythemia
Hemorrhagiparous thrombocytic dystrophy
Hemorrhoid
Hemosiderosis
Hemothorax
Hennekam Beemer syndrome
Hennekam Koss de Geest syndrome
Hennekam Van der Horst syndrome
Hennekam syndrome
Hepadnovirus D
Heparane sulfamidase deficiency
Heparin-induced thrombopenia
Hepatic cystic hamartoma
Hepatic ductular hypoplasia
Hepatic encephalopathy
Hepatic fibrosis
Hepatic fibrosis renal cysts mental retardation
Hepatic veno-occlusive disease
Hepatic venoocclusive disease
Hepatitis
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatitis chronic autoimmune
Hepatitis non-A
Hepatitis non-A non-B
Hepatitis non-B
Hepatoblastoma
Hepatocellular carcinoma
Hepatorenal syndrome
Hepatorenal tyrosinemia
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary carnitine deficiency
Hereditary carnitine deficiency myopathy
Hereditary carnitine deficiency syndrome
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
Herpangina
Herpes encephalitis
Herpes simplex disease
Herpes simplex encephalitis
Herpes viridae disease
Herpes virus antenatal infection
Herpes zoster
Herpes zoster oticus
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 visceral X-linked
Heterotaxy with polysplenia or asplenia
Hexosaminidases A and B deficiency
Hibernian fever familial
Hiccups
Hidradenitis suppurativa
Hidradenitis suppurativa familial
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 (canine)
Hip dysplasia (human)
Hip dysplasia Beukes type
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
Histadelia
Histapenia
Histidinemia
Histidinuria renal tubular defect
Histiocytosis Non-Langerhans-Cell
Histiocytosis X
Histoplasmosis
Hittner Hirsch Kreh syndrome
Hm syndrome
Hodgkin lymphoma
Hodgkin's disease
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
Holoprosencephaly caudal dysgenesis
Holoprosencephaly deletion 2p
Holoprosencephaly ectrodactyly cleft lip palate
Holoprosencephaly radial heart renal anomalies
Holt-Oram syndrome
Holzgreve Wagner Rehder syndrome
Homocarnosinase deficiency
Homocarnosinosis
Homocystinuria
Homocystinuria due to cystathionine beta-synthase
Homocystinuria due to defect in methylation (cbl g)
Homocystinuria due to defect in methylation MTHFR deficiency
Homocystinuria due to defect in methylation cbl e
Homologous wasting disease
Homozygous hypobetalipoproteinemia
Hoon Hall syndrome
Hordnes Engebretsen Knudtson syndrome
Horn Kolb syndrome
Horner's syndrome
Hornova Dlurosova syndrome
Horseshoe kidney
Horton disease
Horton disease juvenile
Hot tub folliculitis
Houlston Ironton Temple syndrome
Howard Young syndrome
Howell-Evans syndrome
Hoyeraal Hreidarsson syndrome
Hoyeraal syndrome
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
Hydatidiform mole
Hydatidosis
Hyde Forster Mccarthy Berry syndrome
Hydranencephaly
Hydrocephalus
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
Hydrocephaly corpus callosum agenesis diaphragmatic hernia
Hydrocephaly low insertion umbilicus
Hydrocephaly tall stature joint laxity
Hydrolethalus syndrome
Hydronephrosis
Hydronephrosis peculiar facial expression
Hydrophobia
Hydrops ectrodactyly syndactyly
Hydrops fetalis
Hydrops fetalis anemia immune disorder absent thumb
Hydroxycarboxylic aciduria
Hydroxymethylglutaricaciduria
Hygroma cervical
Hymenolepiasis
Hyper IgE
Hyper IgM syndrome
Hyper-IgD syndrome
Hyper-reninism
Hyperadrenalism
Hyperaldosteronism
Hyperaldosteronism familial type 1
Hyperaldosteronism familial type 2
Hyperammonemia
Hyperandrogenism
Hyperbilirubinemia
Hyperbilirubinemia transient familial neonatal
Hyperbilirubinemia type 1
Hyperbilirubinemia type 2
Hypercalcemia
Hypercalcemia familial benign
Hypercalcemia familial benign type 1
Hypercalcemia familial benign type 2
Hypercalcemia familial benign type 3
Hypercalcinuria
Hypercalcinuria idiopathic
Hypercalcinuria macular coloboma
Hypercementosis
Hypercholesterolemia
Hypercholesterolemia due to LDL receptor deficiency
Hypercholesterolemia due to arg3500 mutation of Apo B-100
Hyperchylomicronemia
Hypereosinophilic syndrome
Hyperexplexia
Hyperferritinemia hereditary with congenital cataracts
Hypergeusia
Hyperglycemia
Hyperglycerolemia
Hyperglycinemia
Hyperglycinemia isolated nonketotic
Hyperglycinemia isolated nonketotic type 1
Hyperglycinemia isolated nonketotic type 2
Hypergonadotropic ovarian failure familial or sporadic
Hyperhidrosis
Hyperhomocysteinemia
Hyperimidodipeptiduria
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulin E - reccurrent infection syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobulinemia E
Hyperinsulinism diffuse
Hyperinsulinism due to focal adenomatous hyperplasia
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism focal
Hyperinsulinism in children congenital
Hyperkalemia
Hyperkalemic periodic paralysis
Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans of Flegel
Hyperkeratosis palmoplantar localized acanthokeratolytic
Hyperkeratosis palmoplantar localized epidermolytic
Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
Hyperlipoproteinemia
Hyperlipoproteinemia type I
Hyperlipoproteinemia type II
Hyperlipoproteinemia type III
Hyperlipoproteinemia type IV
Hyperlipoproteinemia type V
Hyperlysinemia
Hyperornithinemia
Hyperornithinemia-hyperammonemia-homocitrullinuria
Hyperostosid corticalis deformans juvenilis
Hyperostosis cortical infantile
Hyperostosis corticalis generalisata
Hyperostosis frontalis interna
Hyperoxaluria
Hyperoxaluria type 1
Hyperoxaluria type 2
Hyperparathyroidism
Hyperparathyroidism familial primary
Hyperparathyroidism neonatal severe primary
Hyperphalangism dysmorphy bronchomalacia
Hyperphenilalaninemia due to pterin-4-alpha-carbin
Hyperphenylalalinemia due to dihydropteridine reductase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydrop
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemic embryopathy
Hyperpipecolatemia
Hyperprolactinemia
Hyperprolinemia
Hyperprolinemia type II
Hyperreflexia
Hypersomnolence
Hypertelorism and tetralogy of Fallot
Hypertelorism hypospadias syndrome
Hypertension
Hypertensive hyperkalemia familial
Hypertensive hypokalemia familial
Hypertensive retinopathy
Hyperthermia
Hyperthermia induced defects
Hyperthyroidism
Hyperthyroidism due to mutations in TSH receptor
Hypertonic Gingivitus
Hypertrichosis anterior cervical
Hypertrichosis atrophic skin ectropion macrostomia
Hypertrichosis brachydactyly obesity and mental retardation
Hypertrichosis congenital generalized X linked
Hypertrichosis lanuginosa acquired
Hypertrichosis lanuginosa congenita
Hypertrichosis retinopathy dysmorphism
Hypertrichotic osteochondrodysplasia
Hypertriglycidemia
Hypertrophic branchial myopathy
Hypertrophic cardiomyopathy
Hypertrophic hemangiectasia
Hypertrophic myocardiopathy
Hypertrophic osteoarthropathy primary or idiopathic
Hypertropia
Hypertropic neuropathy of Dejerine-Sottas
Hypertryptophanemia
Hypo-alphalipoproteinemia primary
Hypoadrenalism
Hypoadrenocorticism hypoparathyroidism moniliasis
Hypoaldosteronism
Hypobetalipoproteinaemia ataxia hearing loss
Hypobetalipoprotéinemia familial
Hypocalcemia
Hypocalcemia autosomal dominant
Hypocalcinuric hypercalcemia familial
Hypocalcinuric hypercalcemia familial type 1
Hypocalcinuric hypercalcemia familial type 2
Hypocalcinuric hypercalcemia familial type 3
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodermyasis
Hypodontia dysplasia of nails
Hypodontia of incisors and premolars
Hypofibrinogenemia familial
Hypoglycemia
Hypoglycemia with deficiency of glycogen synthetase in the liver
Hypogonadism
Hypogonadism cardiomyopathy
Hypogonadism hypogonadotropic due to mutations in GR hormone
Hypogonadism isolated hypogonadotropic
Hypogonadism male mental retardation skeletal anomaly
Hypogonadism mitral valve prolapse mental retardation
Hypogonadism primary partial alopecia
Hypogonadism retinitis pigmentosa
Hypogonadotropic hypogonadism syndactyly
Hypogonadotropic hypogonadism without anosmia X linked
Hypogonadotropic hypogonadism-anosmia
Hypogonadotropic hypogonadism-anosmia X linked
Hypohidrotic Ectodermal Dysplasia
Hypokalemia
Hypokalemic alkalosis with hypercalcinuria
Hypokalemic periodic paralysis
Hypokalemic sensory overstimulation
Hypokaliemic periodic paralysis type 1
Hypoketonemic hypoglycemia
Hypolipoproteinemia
Hypomagnesemia primary
Hypomandibular faciocranial dysostosis
Hypomelanotic disorder
Hypomelia mullerian duct anomalies
Hypomentia
Hypoparathyroidism
Hypoparathyroidism X linked
Hypoparathyroidism familial isolated
Hypoparathyroidism nerve deafness nephrosis
Hypoparathyroidism short stature
Hypoparathyroidism short stature mental retardation
Hypophosphatasia
Hypophosphatasia infantile
Hypophosphatemic rickets
Hypopigmentation oculocerebral syndrome Cross type
Hypopituitarism
Hypopituitarism micropenis cleft lip palate
Hypopituitarism postaxial polydactyly
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
Hyposplenism
Hypotelorism cleft palate hypospadias
Hypothalamic dysfunction
Hypothalamic hamartoblastoma syndrome
Hypothalamic hamartomas
Hypothermia
Hypothyroidism
Hypothyroidism due to iodide transport defect
Hypothyroidism postaxial polydactyly mental retardation
Hypotonic sclerotic muscular dystrophy
Hypotrichosis
Hypotrichosis mental retardation Lopes type
Hypotropia
Hypoxanthine guanine phosphoribosyltransferase deficiency
Hypoxia
I
IBIDS syndrome
ICF syndrome
IFAP syndrome
IGDA syndrome
Ichthyophobia
Ichthyosiform erythroderma corneal involvement deafness
Ichthyosis Netherton syndrome
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 erythrokeratolysis hemalis
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hepatosplenomegaly cerebellar degeneration
Ichthyosis hystrix Curth Macklin type
Ichthyosis keratosis follicularis spinulosa Decalvans
Ichthyosis lamellar recessive
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
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 haemosiderosis
Idiopathic sclerosing mesenteritis
Idiopathic thrombocytopenic purpura
Iduronate 2-sulfatase deficiency
IgA deficiency
Illum syndrome
Illyngophobia
Ilyina Amoashy Grygory syndrome
Imaizumi Kuroki syndrome
Iminoglycinuria
Immotile cilia syndrome Kartagener type
Immotile cilia syndrome due to defective radial spokes
Immotile cilia syndrome due to excessively long cilia
Immune deficiency familial variable
Immune thrombocytopenia
Immunodeficiency microcephaly with normal intelligence
Immunodeficiency primary
Immunodeficiency secondary
Immunodeficiency with short limb dwarfism
Imperforate anus
Imperforate oropharynx costo vetebral anomalies
Impossible syndrome
Inactive colon
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
Incontinentia pigmenti type 1
Incontinentia pigmenti type 2
Indomethacin antenatal infection
Infant epilepsy with migrant focal crisis
Infant respiratory distress syndrome
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
Infantile spasms broad thumbs
Infantile spinal muscular atrophy
Infantile striato thalamic degeneration
Infectious arthritis
Infectious myocarditis
Infective endocarditis
Inflammatory breast cancer
Influenza
Infundibulopelvic stenosis multicystic kidney
Inguinal hernia
Instability mitotic non disjunction syndrome
Insulin-resistance type B
Insulin-resistant acanthosis nigricans type A
Insulinoma
Intercellular cholesterol esterification disease
Interferon gamma receptor 1 deficiency
Internal carotid agenesis
Interstitial cystitis
Interstitial lung disease
Interstitial pneumonia
Intestinal atresia multiple
Intestinal lipodystrophy
Intestinal lymphangiectasia
Intestinal malrotation facial anomalies familial type
Intestinal pseudo-obstruction
Intestinal pseudoobstruction chronic idiopathic
Intoeing
Intracranial aneurysms multiple congenital anomaly
Intracranial arterioveinous malformation
Intractable singultus
Intraocular lymphoma
Intrathoracic kidney vertebral fusion
Intrauterine growth retardation mandibular malar hypoplasia
Intrauterine infections
Intrinsic factor congenital deficiency of
Iodine antenatal infection
Iodine deficiency
Iophobia
Iridocyclitis
Iridogoniodysgenesis dominant type
Iris dysplasia hypertelorism deafness
Iritis
Irons Bhan syndrome
Irritable bowel syndrome
Isaacs Mertens syndrome
Isaacs syndrome
Ischiadic hypoplasia renal dysfunction immunodeficiency
Ischiopatellar dysplasia
Isosporosiasis
Isotretinoin embryopathy
Isthmian coarctation
Ivemark syndrome
Ivic Syndrome
J
Jackson-Weiss syndrome
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 asphyxiating thoracic dystrophy
Jeune syndrome
Jeune syndrome situs inversus
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
Joubert syndrome bilateral chorioretinal coloboma
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
KID syndrome
Kabuki syndrome
Kalam Hafeez syndrome
Kaler Garrity Stern syndrome
Kallikrein hypertension
Kallmann syndrome type 1 X linked
Kallmann syndrome type 3 recessive
Kallmann syndrome with Spastic paraplegia
Kallmann syndrome with heart disease
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
Kearns-Sayre syndrome
Keloids
Kennedy disease
Kennerknecht Sorgo Oberhoffer syndrome
Kennerknecht Vogel syndrome
Kenny Caffey syndrome
Kenny-Caffey syndrome Type 1
Keratitis hereditary
Keratoacanthoma
Keratoacanthoma familial
Keratoconjunctivitis sicca
Keratoconus
Keratoconus posticus circumscriptus
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 palmoplantar-periodontopathy
Keratosis palmoplantaris adenocarcinoma of the colon
Keratosis palmoplantaris esophageal colon cancer
Keratosis palmoplantaris papulosa
Keratosis palmoplantaris with corneal dystrophy
Keratosis pilaris
Keratosis seborrheic
Kerion celsi
Kernicterus
Keutel syndrome
Ki-1cell lymphoma
Kifafa seizure disorder
Kikuchi disease
Kimura disease
King-Denborough syndrome
Kleeblattschaedel syndrome
Kleine Levin Syndrome
Kleiner Holmes syndrome
Klinefelter's 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
Kwashiorkor
Kyasanur forest disease
Kyphosis
Kyphosis brachyphalangy optic atrophy
L
L-transposition and ccTGA
LBWC - amniotic bands
LBWD syndrome
LCHAD deficiency
LGCR
LGS
LSA
Labrador lung
Labyrinthitis
Lachiewicz Sibley syndrome
Lacrimo-auriculo-dento-digital syndrome
Lactate dehydrogenase deficiency
Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type B
Lactate dehydrogenase deficiency type C
Lactic acidosis congenital infantile
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
Larsen syndrome craniosynostosis
Larsen syndrome dominant type
Larsen syndrome recessive type
Laryngeal abductor paralysis mental retardation
Laryngeal carcinoma
Laryngeal cleft
Laryngeal neoplasm
Laryngeal papillomatosis
Laryngeal web congenital heart disease short stature
Laryngocele
Laryngomalacia
Laryngomalacia dominant congenital
Larynx atresia
Lassa fever
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
Leao Ribeiro Da Silva syndrome
Learman syndrome
Leber military 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
Legionnaires' 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
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
Leukemia B-Cell chronic
Leukemia Myeloid
Leukemia T-Cell chronic
Leukemia subleukemic
Leukocyte adhesion deficiency syndrome
Leukocyte adhesion deficiency type 2
Leukocytoclastic angiitis
Leukodystrophy
Leukodystrophy Sudanophilic
Leukodystrophy globoid cell
Leukodystrophy metachromatic
Leukodystrophy psuedometachromatic
Leukodystrophy reunion type
Leukoencephalopathy palmoplantar keratoderma
Leukomalacia
Leukomelanoderma mental retardation hypotrichosis
Leukoplakia
Levator syndrome
Levic Stefanovic Nikolic syndrome
Levine Crichley syndrome
Lewandowski Kikolich syndrome
Lewis Pashayan syndrome
Leydig cells hypoplasia
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Lichen myxedematosus
Lichen planus
Lichen planus follicularis
Lichen sclerosis et atrophicus
Lichen spinulosus
Lichstenstein syndrome
Lida Kannari syndrome
Liddle 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
Lindsay Burn syndrome
Lindstrom syndrome
Linear hamartoma syndrome
Linear nevus syndrome
Lip lit syndrome
Lipid storage myopathy
Lipidosis with triglycerid storage disease
Lipoamide dehydrogenase deficiency
Lipodystrophy
Lipodystrophy Rieger anomaly diabetes
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
Lissencephaly immunodeficiency
Lissencephaly isolated
Lissencephaly syndrome type 1
Lissencephaly syndrome type 2
Listeria infection
Listeriosis
Liver cirrhosis
Liver neoplasms
Lobar atrophy of brain
Lobstein disease
Lobster hand
Localized epiphyseal dysplasia
Locked-In syndrome
Lockwood Feingold syndrome
Loffredo Cennamo Cecio syndrome
Logic syndrome
Loiasis
Loin pain hematuria syndrome
Long QT Syndrome
Long QT syndrome type 1
Long QT syndrome type 2
Long QT syndrome type 3
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 Wood syndrome
Lowry Yong syndrome
Lowry syndrome
Lubani Al Saleh Teebi syndrome
Lubinsky syndrome
Lucey Driscoll syndrome
Lucky Gelehrter syndrome
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 erythematosus
Lurie Kletsky syndrome
Luteinizing hormone releasing hormone deficiency of with ataxia
Lutz Richner Landolt syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
LyP (lymphomatoid papulosis)
Lyell's syndrome
Lygophobia
Lyme disease
Lymph node neoplasm
Lymphadenopathy angioimmunoblastic with dysproteinemia
Lymphangiectasies lymphoedema type Hennekam type
Lymphangiectasis
Lymphangioleiomyomatosis
Lymphangiomatosis pulmonary
Lymphangiomyomatosis
Lymphatic filariasis
Lymphatic neoplasm
Lymphedema
Lymphedema congenital
Lymphedema distichiasis
Lymphedema hereditary type 1
Lymphedema hereditary type 2
Lymphedema ptosis
Lymphedema-Distichiasis syndrome
Lymphoblastic lymphoma
Lymphocytes reduced or absent
Lymphocytic colitis
Lymphocytic infiltrate of Jessner
Lymphocytic vasculitis
Lymphoid hamartoma
Lymphoma
Lymphoma AIDS-related
Lymphoma gastric non Hodgkins type
Lymphoma large-cell
Lymphoma large-cell immunoblastic
Lymphoma small cleaved-cell diffuse
Lymphoma small cleaved-cell follicular
Lymphomatoid Papulosis (LyP)
Lymphomatoid granulomatosis
Lymphomatous thyroiditis
Lymphosarcoma
Lynch Lee Murday syndrome
Lynch-Bushby syndrome
Lyngstadaas syndrome
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
Lúes Congénita
M
MASA syndrome
MAT deficiency
MELAS
MIDAS syndrome
MILS syndrome
MLS syndrome
MMEP syndrome
MMT syndrome
MN1
MNGIE syndrome
MODY syndrome
MOMO syndrome
MPO deficiency
MPS III-A
MPS III-B
MPS III-C
MPS III-D
MPS VI
MRKH Syndrome (Mullerian Agenesis)
MSBD syndrome
MTHFR deficiency
Mac Ardle disease
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
Macular degeneration age-related
Macular degeneration juvenile
Macular degeneration polymorphic
Macular dystrophy vitelliform
Macules hereditary congenital hypopigmented and hyperpigmented
Mad cow disease
Madelung's disease
Madokoro Ohdo Sonoda syndrome
Maffucci syndrome
Maghazaji syndrome
Magnesium defect in renal tubular transport of
Magnesium wasting renal
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
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 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 polydactyly
Manic Depression Bipolar
Manic-depressive psychosis genetic types
Mannosidosis
Manouvrier syndrome
Mansonelliasis
Mantle cell lymphoma
Marashi Gorlin syndrome
Marburg fever
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
Marfan-like syndrome Boileau type
Marfanoid craniosynostosis syndrome
Marfanoid hypermobility
Marfanoid mental retardation syndrome autosomal
Marginal glioneuronal heterotopia
Marie Unna congenital hypotrichosis
Marie type ataxia
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
Mass syndrome
Massa Casaer Ceulemans syndrome
Mast cell disease
Mastocytosis
Mastocytosis short stature hearing loss
Mastoiditis
Mastroiacovo De Rosa Satta syndrome
Mastroiacovo Gambi Segni syndrome
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
May-Hegglin Anomaly
Mayer Rokitanski Kuster syndrome
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
Mega-epiphyseal dwarfism
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum
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 Malignant
Melanoma familial
Melanoma type 1
Melanoma type 2
Melanoma-astrocytoma syndrome
Melanosis neurocutaneous
Meleda Disease
Melhem Fahl syndrome
Melioidosis
Melkersson-Rosenthal syndrome
Melnick-Needles osteodysplasty
Melnick-Needles syndrome
Membranoproliferative glomerulonephritis (type II)
Mendelian susceptibility to atypical mycobacteria
Menetrier's disease
Mengel Konigsmark syndrome
Meningeal angiomatosis cleft hypoplastic left heart
Meningioma
Meningioma 1
Meningitis
Meningitis meningococcal
Meningocele
Meningococcemia
Meningoencephalocele
Meningoencephalocele-arthrogryposis-hypoplastic thumb
Meningomyelocele
Mental deficiency-epilepsy-endocrine disorders
Mental mixed retardation deafnes clubbed digits
Mental retardation
Mental retardation Buenos Aires type
Mental retardation Mietens Weber type
Mental retardation Smith Fineman Myers type
Mental retardation Wolff type
Mental retardation X linked Atkin type
Mental retardation X linked Brunner type
Mental retardation X linked Marfanoid habitus
Mental retardation X linked Tranebjaerg type seizures psoriasis
Mental retardation X linked borderline Maoa metabolism anomaly
Mental retardation X linked dysmorphism
Mental retardation X linked dystonia dysarthria
Mental retardation X linked nonspecific
Mental retardation X linked severe Gustavson type
Mental retardation X linked short stature obesity
Mental retardation X-linked 14
Mental retardation anophthalmia craniosynostosis
Mental retardation arachnodactyly hypotonia telangiectasia
Mental retardation athetosis microphthalmia
Mental retardation blepharophimosis obesity web neck
Mental retardation cataracts calcified pinnae myopathy
Mental retardation coloboma slimness
Mental retardation contractural arachnodactyly
Mental retardation dysmorphism hypogonadism diabetes
Mental retardation epilepsy
Mental retardation epilepsy bulbous nose
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 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 Bombay phenotype
Mental retardation short stature absent phalanges
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 spasticity ectrodactyly
Mental retardation unexplained
Mental retardation unusual facies
Mental retardation unusual facies Ampola type
Mental retardation unusual facies Davis Lafer type
Mental retardation unusual facies talipes hand anomalies
Mental retardation-polydactyly-uncombable hair
Mercury poisoning
Meretoja syndrome
Merkle tumors
Merlob Grunebaum Reisner syndrome
Merlob syndrome
Mesangial sclerosis diffuse
Mesenteric ischemia
Mesenteric panniculitis
Mesodermal defects lower type
Mesomelia
Mesomelia synostoses
Mesomelic dwarfism Langer type
Mesomelic dwarfism Nievergelt type
Mesomelic dwarfism Reinhardt Pfeiffer type
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dysplasia Thai type
Mesomelic dysplasia skin dimples
Mesomelic syndrome Pfeiffer type
Mesothelioma
Metabolic acidosis
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 Pyle type
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Metastatic insulinoma
Metatarsus adductus
Metatrophic dysplasia
Metatropic dwarfism
Methimazole antenatal infection
Methionine adenosyl transferase deficiency
Methyl mercury antenatal infection
Methylcobalamin deficiency cbl E complementation type
Methylcobalamin deficiency cbl G type
Methylenetetrahydrofolate reductase deficiency
Methylmalonic acidemia
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria microcephaly cataract
Methylmalonicacidemia with homocystinuria cbl D
Methylmalonicaciduria vitamin B12 unresponsive mut-0
Methylmalonicaciduria with homocystinuria cbl F
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
Microcephalic osteodysplastic primordial dwarfism
Microcephalic primordial dwarfism
Microcephalic primordial dwarfism Toriello type
Microcephaly
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 holoprosencephaly and intrauterine growth retardation
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 primary autosomal recessive
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
Microcoria congenital
Microcornea corectopia macular hypoplasia
Microcornea glaucoma absent frontal sinuses
Microdontia hypodontia short stature
Microencephaly
Microgastria limb reduction defect
Microgastria short stature diabetes
Microinfarct
Micromelic dwarfism Fryns type
Micromelic dysplasia dislocation of radius
Microphtalmos bilateral colobomatous orbital cyst
Microphthalmia
Microphthalmia Lentz type
Microphthalmia camptodactyly mental retardation
Microphthalmia cataract
Microphthalmia diaphragmatic hernia Fallot
Microphthalmia mental deficiency
Microphthalmia microtia fetal akinesia
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
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
Migraine
Mikulicz syndrome
Mikulicz' Disease
Miller Fisher syndrome
Miller-Dieker syndrome
Milner Khallouf Gibson syndrome
Minkowski-Chauffard disease
Minoxidil antenatal infection
Miosis congenital
Mirror hands feet nasal defects
Mirror polydactyly segmentation and limbs defects
Mitochondrial Diseases
Mitochondrial PEPCK deficiency
Mitochondrial cytopathy (generic term)
Mitochondrial diseases clinically undefinite
Mitochondrial diseases of nuclear origin
Mitochondrial encephalomyopathy aminoacidopathy
Mitochondrial genetic disorders
Mitochondrial myopathy lactic acidosis
Mitochondrial myopathy-encephalopathy-lactic acidosis
Mitochondrial trifunctional protein deficiency
Mitral atresia
Mitral regurgitation deafness skeletal anomalies
Mitral valve prolapse
Mitral valve prolapse familial X linked
Mitral valve prolapse familial autosomal dominant
Miura syndrome
Mixed Müllerian tumor
Mixed connective tissue disease
Mixed sclerosing bone dystrophy
Mobius 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
Molluscum contagiosum
Moloney syndrome
Molybdenum cofactor deficiency
Mondini dysplasia
Mondor's disease
Monge'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 neuro-ophthalmic disorders
Motor neuron disease
Motor neuropathy
Motor neuropathy peripheral dysautonomia
Motor sensory neuropathy type 1 aplasia cutis congenita
Mounier-Kuhn syndrome
Mount Reback syndrome
Mousa Al din Al Nassar syndrome
Moyamoya disease
Mucha-Habermann disease
Muckle-Wells syndrome
Mucoepithelial dysplasia
Mucolipidosis type 1
Mucolipidosis type 3
Mucolipidosis type 4
Mucopolysaccharidosis
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
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
Multiple pterygium syndrome lethal type
Multiple sclerosis
Multiple sclerosis ichthyosis factor VIII deficiency
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
Muscular dystrophy Duchenne and Becker type
Muscular dystrophy Hutterite type
Muscular dystrophy congenital infantile cataract hypogonadism
Muscular dystrophy congenital merosin negative
Muscular dystrophy congenital merosin-positive
Muscular dystrophy facioscapulohumeral
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 fibrosis multifocal obstructed vessels
Muscular phosphorylase kinase deficiency
Mutations in estradiol receptor
Myalgia eosinophilia associated with tryptophan
Myalgic encephalomyelitis
Myasthenia familial
Myasthenia gravis
Myasthenia gravis congenital
Mycetoma
Mycobacterium avium complex infection
Mycoplasmal pneumonia
Mycosis fungoides
Mycosis fungoides familial
Mycosis fungoides lymphoma
Mycositis fungoides
Myelinopathies
Myelitis
Myelocerebellar disorder
Myelodysplasia
Myelodysplastic syndromes
Myelofibrosis
Myelofibrosis idiopathic
Myelofibrosis-osteosclerosis
Myeloid splenomegaly
Myeloperoxidase deficiency
Myhre Ruvalcaba Graham syndrome
Myhre Ruvalcaba Kelley syndrome
Myhre School syndrome
Myhre syndrome
Myiasis
Myoadenylate deaminase deficiency
Myocarditis
Myocardium disorder
Myoclonic dystonia
Myoclonic progressive familial epilepsy
Myoclonus
Myoclonus ataxia
Myoclonus cerebellar ataxia deafness
Myoclonus epilepsy
Myoclonus epilepsy partial seizure
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus progressive epilepsy of Unverricht and Lundborg
Myoclonus with epilepsy with ragged red fibers (mitochondria)
Myofibrillar lysis
Myofibroblastic tumors
Myoglobinuria
Myoglobinuria dominant form
Myoglobinuria recurrent
Myoneurogastrointestinal encephalopathy syndrome
Myopathy
Myopathy Hutterite type
Myopathy McArdle type
Myopathy Moebius Robin syndrome
Myopathy X-linked with excessive autophagy
Myopathy and diabetes mellitus
Myopathy cataract hypogonadism
Myopathy centronuclear
Myopathy congenital multicore with external ophthalmoplegia
Myopathy desmin storage
Myopathy growth and mental retardation hypospadias
Myopathy mitochondrial cataract
Myopathy myotubular
Myopathy ophthalmoplegia hypoacousia areflexia
Myopathy tubular aggregates
Myopathy with lactic acidosis and sideroblastic anemia
Myopathy with lysis of myofibrils
Myophosphorylase deficiency
Myopia
Myopia infantile severe
Myopia severe
Myositis
Myositis inclusion body
Myositis ossificans
Myositis ossificans post-traumatic
Myositis ossificans progressiva
Myotonia atrophica
Myotonia mental retardation skeletal anomalies
Myotubular myopathy
Myxedema
Myxoid liposarcoma
Myxoma-spotty pigmentation-endocrine overactivity
Myxomatous peritonitis
Myxozoa
Ménière's disease
N
N acetyltransferase deficiency
N syndrome
N-acetyl glutamate synthetase deficiency
N-acetyl-alpha-D-galactosaminidase
N-acetyl-glucosamine-6-sulfate sulfatase deficiency
NADH CoQ reductase deficiency of
NADH cytochrome B5 reductase deficiency
NAME syndrome
Naegeli syndrome
Naguib syndrome
Nail-patella syndrome
Nakajo Nishimura syndrome
Nakajo syndrome
Nakamura Osame 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
Naxos disease
Necraphilia
Necrotizing encephalopathy infantile subacute
Necrotizing fasciitis
Negative rheumatoid factor polyarthritis
Neisseria meningitidis
Nelson syndrome
Nemaline Myopathy Amish Type
Nemaline myopathy
Neonatal hemochromatosis
Neonatal hepatitis
Neonatal herpes
Neonatal ovarian cyst
Neonatal transient jaundice
Nephroblastomatosisfetal ascitesmacrosomia and Wilm's tumor
Nephrocalcinosis
Nephrogenic diabetes insipidus
Nephrolithiasis type 2
Nephronophthisis familial adult spastic quadriparesis
Nephropathy deafness hyperparathyroidism
Nephropathy familial with gout
Nephropathy familial with hyperuricemia
Nephrosclerosis
Nephrosis deafness urinary tract digital malformation
Nephrosis neuronal dysmigration syndrome
Nephrotic syndrome
Nephrotic syndrome idiopathic steroid-resistant
Nephrotic syndrome ocular anomalies
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 late infantile
Neuroaxonal dystrophy renal tubular acidosis
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
Neurofibromatosis Type IV of Riccardi
Neurofibromatosis familial intestinal
Neurofibromatosis type 2
Neurofibromatosis type 3
Neurofibromatosis type 6
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 motor and sensory LOM type
Neuropathy hereditary sensory type I
Neuropathy hereditary sensory type II
Neuropathy hereditary with liability to pressure palsies
Neuropathy motor sensory type 2 deafness mental retardation
Neuropathy sensory spastic paraplegia
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
Niemann-Pick disease type C
Niemann-Pick disease type D
Night blindness congenital stationary
Night blindness skeletal anomalies unusual facies
Nijmegen Breakage Syndrome
Nivelon Nivelon Mabille syndrome
Noble Bass Sherman syndrome
Nocardiosis
Noise induced deafness
Noma
Non functioning pancreatic endocrine tumor
Non-24-hour sleep-wake disorder
Non-Hodgkin lymphoma
Non-lissencephalic cortical dysplasia
Non-small cell lung cancer
Nonallergic atopic dermatitis
Noninsulin-dependent diabetes mellitus with deafness
Nonketotic hyperglycinemia
Nonmedullary thyroid carcinoma with cell oxyphilia
Nonne-Milroy disease
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
Notalgia paresthetica
Nova syndrome
Novak syndrome
Nuchal bleb familial
Nut Hypersensitivity
Nyctophobia
O
O Doherty syndrome
O Donnell Pappas syndrome
OCD
OFD syndrome type 8
OFD syndrome type Figuera
Obesity
Obesophobia
Obsessive-compulsive disorder
Obsessive-compulsive personality disorder
Obstructive asymmetric septal hypertrophy
Obstructive sleep apnea
Occipital horn syndrome
Occlusive Infantile ateriopathy
Occult spinal dysraphism
Occupational asthma
Occupational asthma - Chemicals
Occupational asthma - Drugs
Occupational asthma - Metals
Occupational asthma - Plants
Occupational asthma - Wood dust
Ochoa syndrome
Ochronosis
Ochronosis hereditary
Ockelbo disease
Ocular Albinism
Ocular Histoplasmosis
Ocular coloboma-imperforate anus
Ocular convergence spasm
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
Oculo-auriculo-vertebral spectrum
Oculo-dento-digital syndrome
Oculo-gastrointestinal muscular dystrophy
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
Oculodentoosseous dysplasia dominant
Oculodentoosseous dysplasia recessive
Oculodigitoesophagoduodenal syndrome
Oculomaxillofacial dysostosis
Oculomaxillofacial dysplasia with oblique facial clefts
Oculomelic amyoplasia
Oculopalatoskeletal syndrome
Oculopharyngeal muscular dystrophy
Oculorenocerebellar syndrome
Odonto onycho dysplasia with alopecia
Odontoma
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontophobia
Odontotrichomelic hypohidrotic dysplasia
Odynophobia
Ogilvie's syndrome
Ohaha syndrome
Ohdo Madokoro Sonoda syndrome
Oikophobia
Okamuto Satomura syndrome
Olfactophobia
Oligodactyly
Oligodactyly tetramelia postaxial
Oligomeganephronic renal hypoplasia
Oligomeganephrony
Oligophernia
Oliver McFarlane syndrome
Oliver syndrome
Olivopontocerebellar atrophy
Olivopontocerebellar atrophy deafness
Olivopontocerebellar atrophy type 1
Olivopontocerebellar atrophy type 2
Olivopontocerebellar atrophy type 3
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
Ophthalmic icthyosis
Ophthalmo acromelic syndrome
Ophthalmomandibulomelic dysplasia
Ophthalmophobia
Ophthalmoplegia ataxia hypoacusis
Ophthalmoplegia mental retardation lingua scrotalis
Ophthalmoplegia myalgia tubular aggregates
Opitz Mollica Sorge syndrome
Opitz Reynolds Fitzgerald syndrome
Opitz syndrome
Opportunistic infections
Oppositional defiant disorder
Opsismodysplasia
Opthalmoplegia progressive external scoliosis
Optic atrophy
Optic atrophy autosomal dominant
Optic atrophy idiopathic autosomal recessive
Optic atrophy opthalmoplegia ptosis deafness myopia
Optic atrophy polyneuropathy deafness
Optic disc drusen
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
Oral facial digital syndrome type 3
Oral facial digital syndrome type 4
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
Oral-facial-digital syndrome type IV
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
Ornithosis
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
Osgood-Schlatter disease
Oslam syndrome
Osmed Syndrome
Ossicular Malformations familial
Osteitis deformans
Osteoarthritis
Osteoarthropathy of fingers familial
Osteochondritis
Osteochondritis deformans juvenile
Osteochondritis dissecans
Osteochondrodysplasia thrombocytopenia hydrocephalus
Osteochondroma
Osteocraniostenosis
Osteodysplasia familial Anderson type
Osteodysplastic dwarfism Corsello type
Osteoectasia familial
Osteogenesis Imperfecta
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 (generic term)
Osteopetrosis autosomal dominant type 1
Osteopetrosis lethal
Osteopetrosis malignant
Osteopetrosis mild autosomal recessive form
Osteopetrosis renal tubular acidosis
Osteopoikilosis
Osteoporosis
Osteoporosis macrocephaly mental retardation blindness
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis pseudoglioma syndrome
Osteosarcoma limb anomalies erythroid macrocytosis
Osteosclerose type Stanescu
Osteosclerosis
Osteosclerosis abnormalities of nervous system and meninges
Osteosclerosis autosomal dominant Worth type
Ostertag type amyloidosis
Ota Appaura syndrome
Ota Kawamura Ito syndrome
Oto palato digital syndrome type I and II
Oto-Palatal-digital syndrome
Otodental dysplasia
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Otopalatodigital syndrome type 2
Otosclerosis
Otosclerosis familial
Otospondylomegaepiphyseal dysplasia
Ouvrier Billson syndrome
Ovarian cancer
Ovarian carcinosarcoma
Ovarian dwarfism
Ovarian dwarfism as part of Turner Syndrome
Ovarian insufficiency due to FSH resistance
Overfolded helix
Overgrowth radial ray defect arthrogryposis
Overgrowth syndrome type Fryer
Overhydrated hereditary stomatocytosis
Overwhelming post-splenectomy infection (OPSI)
Oxalosis
ovarian remnant syndrome
P
PANDAS
PARC syndrome
PEHO syndrome
PEPCK 1 deficiency
PEPCK 2 deficiency
PEPCK deficiency mitochondrial
PHACE association
PIBIDS syndrome
PIRA
POEMS syndrome
Pachydermoperiostosis
Pachygyria
Pachyonychia congenita Jackson Lawler type
Pacman dysplasia
Paes Whelan Modi syndrome
Paget disease extramammary
Paget disease juvenile type
Paget's disease of bone
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
Pancreas divisum
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
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
Paramyotonia congenita of von Eulenburg
Paraneoplastic cerebellar degeneration
Paraomphalocele
Paraparesis amyotrophy of hands and feet
Paraphilia
Paraplegia
Paraplegia-brachydactyly-cone shaped epiphysis
Paraplegia-mental retardation-hyperkeratosis
Parapsoriasis
Parasitophobia
Parastremmatic dwarfism
Parathyroid cancer
Parathyroid neoplasm
Paratyphoid fever
Parcopresis Spongebob
Parenchymatous cortical degeneration of cerebellum
Paris-Trousseau thrombopenia
Parkes-Weber syndrome
Parkinson dementia Steele type
Parkinson's disease
Parkinsonism
Parkinsonism early onset mental retardation
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
Paruresis
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
Patent ductus arteriosus familial
Patterson Lowry syndrome
Patterson Stevenson syndrome
Patterson pseudoleprechaunism syndrome
Pauciarticular chronic arthritis
Pavone Fiumara Rizzo syndrome
Peanut hypersensitivity
Pearson's marrow/pancreas syndrome
Pediatric T-cell leukemia
Pediculosis
Peeling skin syndrome ichthyosis
Pelizaeus-Merzbacher brain sclerosis
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease recessive acute infantile
Pelizaeus-Merzbacher leukodystrophy
Pellagra like syndrome
Pellagrophobia
Pelvic dysplasia arthrogryposis of lower limbs
Pelvic inflammatory disease
Pelvic lipomatosis
Pelvic shoulder dysplasia
Pemphigus
Pemphigus and fogo selvagem
Pemphigus foliaceus
Pemphigus vulgaris
Pemphigus vulgaris familial
Pena Shokeir syndrome
Pendred syndrome
Penis agenesia
Penoscrotal transposition
Penta X syndrome
Pentalogy of Cantrell
Pentosuria
Penttinen-Aula syndrome
Peptidic growth factors deficiency
Perceptual disorder
Periarteritis nodosa
Pericardial constriction with 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
Periodontal disease / Periodontitis
Peripartum cardiomyopathy
Peripheral T-cell lymphoma
Peripheral blood vessel disorder
Peripheral nervous disorder
Peripheral neuroectodermal tumor
Peripheral neuropathy
Peripheral type neurofibromatosis
Perisylvian syndrome
Peritonitis
Periventricular laminar heterotopia
Periventricular leukomalacia
Pernicious anemia
Perniola Krajewska Carnevale syndrome
Perniosis
Peroxisomal Bifunctional Enzyme Deficiency
Peroxisomal defects
Persistent Mullerian duct syndrome (PMDS)
Persistent parvovirus infection
Persistent sexual arousal syndrome
Persistent truncus arteriosus
Pertussis
Pes planus
Peters anomaly
Peters anomaly with cataract
Peters congenital glaucoma
Petit Fryns syndrome
Petty Laxova Wiedemann syndrome
Peutz-Jeghers syndrome
Peyronie disease
Pfeiffer Hirschfelder Rott syndrome
Pfeiffer Kapferer syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer Rockelein syndrome
Pfeiffer Singer Zschiesche syndrome
Pfeiffer Tietze Welte syndrome
Pfeiffer cardiocranial syndrome
Pfeiffer syndrome
Pfeiffer type acrocephalosyndactyly
Phacomatosis fourth
Phacomatosis pigmentokeratotica
Phacomatosis pigmentovascularis
Phalacrophobia
Pharmacophobia
Phenobarbital antenatal infection
Phenobarbital embryopathy
Phenol sulfotransferase deficiency
Phenothiazine antenatal infection
Phenylalanine hydroxylase deficiency
Phenylalaninemia
Phenylketonuria
Phenylketonuria type II
Phenylketonuric embryopathy
Pheochromocytoma
Pheochromocytoma as part of NF
Philadelphia-negative chronic myeloid leukemia
Phocomelia Schinzel type
Phocomelia contractures absent thumb
Phocomelia ectrodactyly deafness sinus arrhythmia
Phocomelia syndrome
Phocomelia thrombocytopenia encephalocele
Phosphate diabetes
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase deficiency
Phosphoglucomutase deficiency
Phosphoglucomutase deficiency type 1
Phosphoglucomutase deficiency type 2
Phosphoglucomutase deficiency type 3
Phosphoglucomutase deficiency type 4
Phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase deficiency
Phosphomannoisomerase deficiency
Phosphoribosylpyrophosphate synthetase deficiency
Photoaugliaphobia
Photosensitive epilepsy
Phthiriophobia
Physical urticaria
Phytanic acid oxidase deficiency
Pica
Picardi-Lassueur-Little syndrome
Pick disease of the brain
Pickardt syndrome
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
Pigment-dispersion syndrome
Pigmentary retinopathy
Pigmented villonodular synovitis
Pignata guarino syndrome
Pili canulati
Pili multigemini
Pili torti
Pili torti developmental delay neurological abnormalities
Pili torti nerve deafness
Pili torti onychodysplasia
Pillay syndrome
Pilo dento ungular dysplasia microcephaly
Pilonidal cyst
Pilotto syndrome
Pinealoma
Pinheiro Freire Maia Miranda syndrome
Pinsky Di George Harley syndrome
Pinta
Pipecolic acidemia
Pitt Hopkins syndrome
Pitt-Rogers-Danks syndrome
Pituitary dwarfism 1
Pityriasis lichenoides chronica
Pityriasis lichenoides et varioliformis acuta
Pityriasis rubra pilaris
Piussan Lenaerts Mathieu syndrome
Placenta disorder
Placenta neoplasm
Placental abruption
Plagiocephaly X linked mental retardation
Plague (bubonic septicemic pneumonic and pharyngeal)
Plasmacytoma anaplastic
Plasmalogenes synthesis deficiency isolated
Plasminogen activator inhibitor type 1 deficiency congenital
Plasminogen deficiency congenital
Platelet disorder
Platyspondylic lethal chondrodysplasia
Platyspondyly amelogenesis imperfecta
Pleural effusion
Pleuritis
Plexosarcoma
Plum syndrome
Plummer-Vinson syndrome
Pneumoconiosis
Pneumocystis jiroveci pneumonia
Pneumocystosis
Pneumonia eosinophilic
Pneumonoultramicroscopicsilicovolcanoconiosis
Pneumothorax
Podder-Tolmie syndrome
Poedimus kyleopecia mental retardation
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 (Polio)
Poliosophobia
Polyarteritis
Polyarteritis nodosa
Polyarthritis
Polyarthritis systemic
Polychondritis
Polycystic kidney disease
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 ovarian disease familial
Polycystic ovarian syndrome
Polycystic ovaries urethral sphincter dysfunction
Polycythemia vera
Polydactyly
Polydactyly alopecia seborrheic dermatitis
Polydactyly cleft lip palate psychomotor retardation
Polydactyly myopia syndrome
Polydactyly postaxial
Polydactyly postaxial dental and vertebral
Polydactyly postaxial with median cleft of upper lip
Polydactyly preaxial type 1
Polydactyly syndrome middle ray duplication
Polydactyly visceral anomalies cleft lip palate
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
Pompe's disease
Poncet-Spiegler's cylindroma
Pontoneocerebellar Hypoplasia
Popliteal pterygium syndrome
Popliteal pterygium syndrome lethal type
Porencephaly
Porencephaly cerebellar hypoplasia malformations
Porokeratosis of Mibelli
Porokeratosis plantaris palmaris et disseminata
Porokeratosis punctata palmaris et plantaris
Porphyria
Porphyria Ala-D
Porphyria acute intermittent
Porphyria congenital erythropoietic
Porphyria cutanea tarda
Porphyria cutanea tarda familial type
Porphyria cutanea tarda sporadic type
Porphyria hereditary coproporphyria
Portal hypertension
Portal hypertension due to infrahepatic block
Portal thrombosis
Portal vein thrombosis
Portuguese type amyloidosis
Positive rheumatoid factor polyarthritis
Post Polio syndrome
Post Traumatic Stress disorder (PTSD)
Post-infectious myocarditis
Post-traumatic epilepsy
Postaxial polydactyly mental retardation
Posterior tibial tendon rupture
Posterior urethral valves
Posterior uveitis
Posterior valve urethra
Postural hypotension
Potassium aggravated myotonia
Potassium deficiency (hypokalemia)
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
Precocious puberty gonadotropin-dependent
Precocious puberty male limited
Preeclampsia
Preeyasombat Viravithya syndrome
Pregnancy toxemia /hypertension
Prekallikrein deficiency congenital
Premature aging
Premature aging Okamoto type
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
Primary ciliary dyskinesia 2
Primary craniosynostosis
Primary cutaneous amyloidosis
Primary granulocytic sarcoma
Primary hyperoxaluria
Primary hyperparathyroidism
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
Processing disorder
Proconvertin deficiency congenital
Proctitis
Progeria
Progeria short stature pigmented nevi
Progeria variant syndrome Ruvalcaba type
Progeroid syndrome De Barsy type
Progeroid syndrome Penttinen type
Progeroid syndrome Petty 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
Progressive supranuclear palsy atypical
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
Protein-energy malnutrition
Proteus like syndrome mental retardation eye defect
Proteus syndrome
Prothrombin deficiency
Protoporphyria
Protoporphyria erythropoietic
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
Pseudo-Gaucher disease
Pseudo-Pelade of Brocq
Pseudo-Turner syndrome
Pseudo-Zellweger syndrome
Pseudo-torch syndrome
Pseudoa-Pseudom
Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic dysplasia 1
Pseudoadrenoleukodystrophy
Pseudoaminopterin syndrome
Pseudoarylsulfatase A deficiency
Pseudocholinesterase deficiency
Pseudogout
Pseudohermaphrodism anorectal anomalies
Pseudohermaphroditism
Pseudohermaphroditism female skeletal anomalies
Pseudohermaphroditism male with gynecomastia
Pseudohermaphroditism mental retardation
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2
Pseudohypoparathyroidism
Pseudomarfanism
Pseudomonas stutzeri infections
Pseudomongolism
Pseudomyxoma peritonei
Pseudoo-Pseudo-Z
Pseudoobstruction idiopathic intestinal
Pseudopapilledema
Pseudopapilledema blepharophimosis hand anomalies
Pseudopolycythaemia
Pseudoprogeria syndrome
Pseudotumor cerebri
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum dominant form
Pseudoxanthoma elasticum recessive form
Psittacosis
Psoriasis
Psoriatic arthritis
Psoriatic rheumatism
Psychogenic polydipsia
Psychophysiologic Disorders
Psychosis
Pterigium Colli
Pterygia mental retardation facial dysmorphism
Pterygium colli mental retardation digital anomalies
Pterygium of the conjunctiva
Pterygium syndrome X linked
Pterygium syndrome antecubital
Pterygium syndrome multiple
Pterygium syndrome multiple dominant type
Ptosis
Ptosis coloboma mental retardation
Ptosis coloboma trigonocephaly
Ptosis strabismus diastasis
Ptosis strabismus ectopic pupils
Pubic lice
Puerperal fever
Pulmonar arterioveinous aneurysm
Pulmonary Disease Chronic Obstructive
Pulmonary Hypertension Secondary
Pulmonary agenesis
Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis congenital
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 edema of mountaineers
Pulmonary fibrosis /granuloma
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 Café au lait spot
Punctate acrokeratoderma freckle like pigmentation
Punctate inner choroidopathy
Pure red cell aplasia
Puretic syndrome
Purine nucleoside phosphorylase deficiency
Purpura
Purpura Schoenlein-Henoch
Purpura thrombotic thrombocytopenic
Purtilo syndrome
Pyaemia
Pycnodysostosis
Pyelonephritis
Pyknoachondrogenesis
Pyle disease
Pyoderma gangrenosum
Pyomyositis
Pyridoxine deficit
Pyrimidinemia familial
Pyrophobia
Pyropoikilocytosis
Pyrosis
Pyruvate carboxylase deficiency
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate kinase deficiency
Pyruvate kinase deficiency liver type
Pyruvate kinase deficiency muscle type
Q
Q fever
Qazi Markouizos syndrome
Quebec platelet disorder
Quinquaud's decalvans folliculitis
R
Rabies
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radiation induced angiosarcoma of the breast
Radiation induced meningioma
Radiation leukemia
Radiation related neoplasm /cancer
Radiation syndromes
Radiation-Induced Brachial Plexopathy
Radiculomegaly of canine teeth congenital cataract
Radio digito facial dysplasia
Radio renal syndrome
Radio-ulnar synostosis type 1
Radio-ulnar synostosis type 2
Radiophobia
Radioulnar synostosis mental retardation hypotonia
Radioulnar synostosis retinal pigment abnormalities
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
Rapunzel syndrome
Rasmussen Johnsen Thomsen syndrome
Rasmussen subacute encephalitis
Rasmussen's 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 Syndrome
Refsum disease infantile form
Reginato Shiapachasse syndrome
Regional enteritis
Reifenstein Syndrome
Reinhardt Pfeiffer syndrome
Reiter's Syndrome
Renal adysplasia dominant type
Renal agenesis
Renal agenesis bilateral
Renal agenesis meningomyelocele mullerian defect
Renal artery stenosis
Renal calculi
Renal caliceal diverticuli deafness
Renal cancer
Renal carcinoma familial
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
Renal tubular acidosis distal
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 progressive nerve deafness
Renal tubular transport disorders inborn
Renier Gabreels Jasper syndrome
Renoanogenital syndrome
Renobitosis
Renoprival hypertension
Repetitive strain injury (RSI)
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
Retard Toe
Reticuloendotheliosis
Retina disorder
Retinal degeneration
Retinal dysplasia X linked
Retinal telangiectasia hypogammaglobulinemia
Retinis pigmentosa deafness hypogenitalism
Retinitis pigmentosa
Retinitis pigmentosa mental retardation deafness
Retinitis pigmentosa-deafness
Retinoblastoma
Retinohepatoendocrinologic syndrome
Retinopathy anemia CNS anomalies
Retinopathy aplastic anemia neurological abnormalities
Retinopathy arteriosclerotic
Retinopathy diabetic
Retinopathy pigmentary mental retardation
Retinoschisis
Retinoschisis X-linked
Retinoschisis juvenile
Retrolental fibroplasia
Retroperitoneal fibrosis
Retroperitoneal liposarcoma
Rett like syndrome
Rett syndrome
Revesz Debuse syndrome
Reye's syndrome
Reynolds Neri Hermann syndrome
Reynolds syndrome
Rh disease
Rhabditida infections
Rhabdoid tumor
Rhabdomyolysis
Rhabdomyomatous dysplasia cardiopathy genital anomalies
Rhabdomyosarcoma
Rhabdomyosarcoma 1
Rhabdomyosarcoma 2
Rhabdomyosarcoma alveolar
Rhabdomyosarcoma embryonal
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 Cohen syndrome
Richieri Costa Guion Almeida Rodini syndrome
Richieri Costa Guion Almeida acrofacial dysostosis
Richieri Costa Guion Almeida dwarfism
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
Rift Valley fever
Right atrium familial dilatation
Right ventricle hypoplasia
Rigid mask like face deafness polydactyly
Rigid spine syndrome
Riley-Day syndrome
Ringed hair disease
Ringworm
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
Rothmund-Thomson syndrome
Rotor syndrome
Roussy Levy hereditary areflexic dystasia
Rowley-Rosenberg syndrome
Roy Maroteaux Kremp syndrome
Rozin Hertz Goodman syndrome
Rubella
Rubella congenital
Rubella virus antenatal infection
Rubeola
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome (gene promoter involvement)
Rudd Klimek syndrome
Rudiger syndrome
Rumination syndrome
Rupophobia
Rutledge Friedman Harrod syndrome
Ruvalcaba Churesigaew Myhre syndrome
Ruvalcaba syndrome
Ruvalcaba-Myhre syndrome
Ruvalcaba-Myhre-Smith syndrome (BRR)
Ruzicka Goerz Anton syndrome
S
SAPHO syndrome
SCAD deficiency
SCARF syndrome
SCOT deficiency
SSADH (succinic semialdehyde dehydrogenase deficiency)
SSPE (subacute sclerosing panencephalitis)
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
Salmonellosis (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
Sarcoidosis
Sarcoidosis pulmonary
Sarcoma Granulocytic
Sarcosinemia
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Savisky syndrome
Say Barber Hobbs syndrome
Say Barber Miller syndrome
Say Carpenter syndrome
Say Field Coldwell syndrome
Say Meyer syndrome
Scab Face
Scabies
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scapuloiliac dysostosis
Scapuloperoneal myopathy
Scarlet fever
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Schamberg's disease
Schamberg's disease pigmentation disorder
Scheie syndrome
Schereshevskij Turner
Scheuermann's disease
Schimke syndrome
Schindler disease
Schinzel syndrome
Schinzel-Giedion midface retraction syndrome
Schinzel-Giedion syndrome
Schisis association
Schistosomiasis
Schizencephaly
Schizophrenia
Schizophrenia genetic types
Schizophrenia mental retardation deafness retinitis
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
Scleredema
Scleroatonic myopathy
Sclerocornea Syndactyly ambiguous genitalia
Scleroderma
Scleromyxedema
Sclerosing Lymphocytic Lobulitis
Sclerosing Mesenteritis
Sclerosing bone dysplasia mental retardation
Sclerosing cholangitis
Sclerosteosis
Sclerotylosis
Scoliosis as part of NF
Scoliosis with unilateral unsegmented bar
Scott Bryant Graham syndrome
Scott syndrome
Scrapie
Scurvy
Sea-blue histiocytosis
Seafood poisoning
Seaver Cassidy syndrome
Sebocystomatosis
Secernentea Infections
Seckel like syndrome Majoor Krakauer type
Seckel like syndrome type Buebel
Seckel syndrome
Seckel syndrome 2
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
Selective mutism
Selenium poisoning
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 integration dysfunction
Sensory neuropathy
Sensory neuropathy type 1
Sensory radicular neuropathy recessive form
Senter syndrome
Seow Najjar syndrome
Sepsis
Septo-optic dysplasia
Septooptic dysplasia digital anomalies
Sequeiros Sack syndrome
Seres Santamaria Arimany Muniz syndrome
Serious digitalis intoxication
Serum sickness
Setleis syndrome
Severe Infantile Axonal Neuropathy
Severe acute respiratory syndrome (SARS)
Severe combined immunodeficiency (SCID)
Sex Chromosome Disorders
Sexually transmitted disease
Sezary syndrome
Sezary's lymphoma
Shapiro syndrome
Sharma Kapoor Ramji syndrome
Sharp syndrome
Shaver's disease
Sheehan syndrome
Shigellosis
Shingles
Shith Filkins syndrome
Shock
Shokeir syndrome
Short QT syndrome
Short bowel 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
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 ribs craniosynostosis polysyndactyly
Short stature Brussels type
Short stature Robin sequence cleft mandible hand anomalies clubfoot
Short stature abnormal skin pigmentation mental retardation
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 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
Sialidosis type 1 and 3
Sialuria French type
Sickle cell anemia
Sideroblastic anemia autosomal
Siderosis
Siegler Brewer Carey syndrome
Silengo Lerone Pelizzo syndrome
Silent sinus 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
Sino-auricular heart block
Sinus cancer
Sinus histiocytosis
Sinus node disease and myopia
Sipple syndrome
Sirenomelia
Sitophobia
Sitosterolemia
Situs inversus X linked
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Situs inversus viscerum-cardiopathy
Sjögren Larsson syndrome
Sjögren's syndrome
Skeletal dysplasia San diego type
Skeletal dysplasia brachydactyly
Skeletal dysplasia epilepsy short stature
Skeletal dysplasia orofacial anomalies
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
Smallpox
Smet Fabry Fryns syndrome
Smith Fineman Myers syndrome
Smith Martin Dodd syndrome
Smith-Magenis Syndrome
Sneddon Syndrome
Sociophobia
Soft tissue sarcoma
Sohval Soffer syndrome
Somatostatinoma
Sommer Hines syndrome
Sommer Rathbun Battles syndrome
Sommer Young Wee Frye syndrome
Sondheimer syndrome
Sonoda syndrome
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
Spastic paraparesis deafness
Spastic paraparesis infantile
Spastic paraplegia epilepsy mental retardation
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia familial
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 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
Spina bifida hypospadias
Spina-Spine - Spino
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
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 shock
Spinal stenosis
Spine rigid cardiomyopathy
Spinocerebellar ataxia (multiple types)
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
Splenic-flexure syndrome
Splenogonadal fusion limb defects micrognatia
Splenomegaly
Split hand deformity mandibulofacial dysostosis
Split hand split foot X linked
Split hand split foot malformation autosomal reces
Split hand split foot mandibular hypoplasia
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split-hand deformity
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