User talk:Anandks007/Med

This list of rare diseases was originally taken from the

• Aagenaes syndrome
• Aarskog Ose Pande syndrome
• Aarskog syndrome
• Aase Smith syndrome
• Aase syndrome
• ABCD syndrome
• Abdallat Davis Farrage syndrome
• Abdominal aortic aneurysm
• Abdominal cystic lymphangioma
• Abdominal defects
• Abdominal musculature absent microphthalmia joint laxity
• Abdominal neoplasms
• Aberrant subclavian artery
• Ablepharon macrostomia syndrome
• Ablutophobia
• Abnormal systemic venous return
• Abruzzo Erickson syndrome
• Absence of Gluteal muscle
• Absence of tibia with polydactyly
• Absent corpus callosum cataract immunodeficiency
• Absent T lymphocytes
• Acalvaria
• Acanthocheilonemiasis
• Acanthocytosis chorea
• Acanthocytosis
• Acanthosis nigricans muscle cramps acral enlargement
• Acarophobia
• Acatalasemia
• Accessory deep peroneal nerve
• Accessory Navicular bone
• Accessory pancreas
• Achalasia alacrimia syndrome
• Achalasia microcephaly
• Achalasia, familial esophageal
• Achalasia
• Achalasia-Addisonianism-Alacrimia syndrome
• Achard syndrome
• Achard-Thiers syndrome
• Acheiropodia
• Achondrogenesis Kozlowski type
• Achondrogenesis type 1A
• Achondrogenesis type 1B
• Achondrogenesis
• Achondroplasia Swiss type agammaglobulinemia
• Achondroplasia
• Achondroplastic dwarfism
• Achromatopsia incomplete, X-linked
• Achromatopsia
• Acid maltase deficiency
• Acidemia, isovaleric
• Acidemia, propionic
• Acitretine antenatal infection
• Ackerman syndrome
• Acne rosacea
• Acoustic neuroma
• Acoustic schwannomas
• Acquired agranulocytosis
• Acquired hypoprothrombinemia
• Acquired ichthyosis
• Acquired prothrombin deficiency
• Acquired syphilis
• Acral dysostosis dyserythropoiesis
• Acral renal mandibular syndrome
• Acro coxo mesomelic dysplasia
• Acro fronto facio nasal dysostosis
• Acrocallosal syndrome, Schinzel type
• Acrocephalopolydactyly
• Acrocephalosyndactyly Jackson Weiss type
• Acrocephaly pulmonary stenosis mental retardation
• Acrodermatitis enteropathica
• Acrodermatitis
• Acrodysostosis
• Acrodysplasia scoliosis
• Acrofacial dysostosis ambiguous genitalia
• Acrofacial dysostosis atypical postaxial
• Acrofacial dysostosis Catania form
• Acrofacial dysostosis Preis type
• Acrofacial dysostosis Rodriguez type
• Acrofacial dysostosis Weyers type
• Acrofacial dysostosis, Nager type
• Acrofacial dysostosis, Palagonia type
• Acrokeratoelastoidosis of Costa
• Acromegaloid changes cutis verticis gyrata corneal
• Acromegaloid facial appearance syndrome
• Acromegaloid hypertrichosis syndrome
• Acromegaly
• Acromesomelic dysplasia Brahimi Bacha type
• Acromesomelic dysplasia Campailla Martinelli type
• Acromesomelic dysplasia Hunter Thompson type
• Acromesomelic dysplasia, Maroteaux type
• Acromesomelic dysplasia
• Acromicric dysplasia
• Acroosteolysis dominant type
• Acroosteolysis neurogenic
• Acroosteolysis osteoporosis skull and mandible changes
• Acropectoral syndrome
• Acropectorenal field defect
• Acropectorovertebral dysplasia
• Acrophobia
• Acropigmentation of Dohi
• Acrorenal syndrome recessive
• Acrorenoocular syndrome
• Acrospiroma
• ACTH deficiency
• ACTH resistance
• Actinomycetales infection
• Activated protein C resistance
• Acutane embryopathy
• Acute articular rheumatism
• Acute erythroblastic leukemia
• Acute febrile neutrophilic dermatosis
• Acute idiopathic polyneuritis
• Acute intermittent porphyria
• Acute lymphoblastic leukemia congenital sporadic aniridia
• Acute lymphoblastic leukemia
• Acute lymphocytic leukemia
• Acute megakaryoblastic leukemia
• Acute monoblastic leukemia
• Acute mountain sickness
• Acute myeloblastic leukemia type 1
• Acute myeloblastic leukemia type 2
• Acute myeloblastic leukemia type 3
• Acute myeloblastic leukemia type 4
• Acute myeloblastic leukemia type 5
• Acute myeloblastic leukemia type 6
• Acute myeloblastic leukemia type 7
• Acute myeloblastic leukemia with maturation
• Acute myeloblastic leukemia without maturation
• Acute myelocytic leukemia
• Acute myelogenous leukemia
• Acute myeloid leukemia (generic term)
• Acute myeloid leukemia, secondary
• Acute myelomonocytic leukemia
• Acute necrotizing ulcerative gingivitis
• Acute non lymphoblastic leukemia (generic term)
• Acute posterior multifocal placoid pigment epitheliopathy
• Acute promyelocytic leukemia
• Acute renal failure
• Acyl-CoA dehydrogenase, medium chain, deficiency of
• Acyl-CoA dehydrogenase, short chain, deficiency of
• Acyl-CoA dehydrogenase, very long chain, deficiency of
• Acyl-CoA oxidase deficiency
• Adactylia unilateral dominant
• Adam complex familial
• Adams Nance syndrome
• Adams-Oliver syndrome
• Addison's disease
• Adducted thumb club foot syndrome
• Adducted thumb syndrome recessive form
• Adducted thumbs Dundar type
• Adenine phosphoribosyltransferase deficiency
• Adenocarcinoid tumor
• Adenocarcinoma of lung
• Adenoid cystic carcinoma
• Adenoma of the adrenal gland
• Adenoma
• Adenomelablastoma
• Adenomyosis
• Adenosine deaminase deficiency
• Adenosine monophosphate deaminase deficiency
• Adenosine triphosphatase deficiency, anemia due to
• Adenylosuccinate lyase deficiency
• Adie syndrome
• Adiposa dolorosa
• Adolescent benign focal crisis
• Adrenal adenoma, familial
• Adrenal cancer
• Adrenal disorder
• Adrenal gland hyperfunction
• Adrenal gland hypofunction
• Adrenal hyperplasia, congenital
• Adrenal hyperplasia
• Adrenal hypertension
• Adrenal hypoplasia congenital, X-linked
• Adrenal hypoplasia
• Adrenal incidentaloma
• Adrenal insufficiency
• Adrenal macropolyadenomatosis
• Adrenal medulla neoplasm
• Adrenocortical carcinoma
• Adrenogenital syndrome
• Adrenoleukodystrophy, autosomal, neonatal form
• Adrenoleukodystrophy, X-linked
• Adrenoleukodystrophy
• Adrenomyodystrophy
• Adult onset Still's disease
• Adult spinal muscular atrophy
• Adult syndrome
• Aerophobia
• Afibrinogenemia
• Aganglionosis, total intestinal
• Aggressive fibromatosis
• Agnathia holoprosencephaly situs inversus
• Agnosia, primary visual
• Agoraphobia
• Agrizoophobia
• Agyria pachygyria polymicrogyria
• Agyria-pachygyria type 1
• Agyrophobia
• Ahumada-Del Castillo syndrome
• Aicardi syndrome
• Aicardi-Goutieres syndrome
• Aichmophobia
• AIDS Dementia Complex
• AIDS dysmorphic syndrome
• Ainhumoid and mutilating keratodermia
• Akaba Hayasaka syndrome
• Akesson syndrome
• Aksu Stckhausen syndrome
• Al Awadi Teebi Farag syndrome
• Al Frayh Facharzt Haque syndrome
• Al Gazali Al Talabani syndrome
• Al Gazali Aziz Salem syndrome
• Al Gazali Donnai Mueller syndrome
• Al Gazali Hirschsprung syndrome
• Al Gazali Khidr Prem Chandran syndrome
• Al Gazali Sabrinathan Nair syndrome
• Alagille-Watson syndrome (AWS)
• Alar nasal cartilages coloboma of telecanthus
• Albers-Schonberg disease
• Albinism deafness syndrome
• Albinism immunodeficiency
• Albinism ocular late onset sensorineural deafness
• Albinism oculocutaneous, Hermansky-Pudlak type
• Albinism, minimal pigment type
• Albinism, ocular
• Albinism, yellow mutant type
• Albinism
• Albinoidism
• Albrecht Schneider Belmont syndrome
• Albright like syndrome
• Albright Turner Morgani syndrome
• Albright's hereditary osteodystrophy
• Albright's syndrome
• Albuminurophobia
• Alcaptonuria
• Alcohol antenatal infection
• Alcohol fetopathy
• Alcoholic hepatitis
• Alcoholic liver cirrhosis
• Aldolase A deficiency
• Aldred syndrome
• Alektorophobia
• Aleukemic leukemia cutis
• Alexander's disease
• Alkaptonuria
• Allain Babin Demarquez syndrome
• Allan Herndon syndrome
• Allanson Pantzar McLeod syndrome
• Allergic angiitis
• Allergic autoimmune thyroiditis
• Allergic bronchopulmonary aspergillosis
• Allergic encephalomyelitis
• Alliumphobia
• Allodoxaphobia
• Aloi Tomasini Isaia syndrome
• Alopecia anosmia deafness hypogonadism syndrome
• Alopecia areata
• Alopecia congenita keratosis palmoplantaris
• Alopecia contractures dwarfism mental retardation
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia hypogonadism extrapyramidal disorder
• Alopecia immunodeficiency
• Alopecia macular degeneration growth retardation
• Alopecia mental retardation hypogonadism
• Alopecia mental retardation syndrome
• Alopecia totalis
• Alopecia universalis onychodystrophy vitiligo
• Alopecia universalis
• Alopecia, epilepsy, pyorrhea, mental subnormality
• Alopecia
• Alpers disease
• Alpha 1-antitrypsin deficiency
• Alpha-2 deficient collagen disease
• Alpha-ketoglutarate dehydrogenase deficiency
• Alpha-L-iduronidase deficiency
• Alpha-mannosidosis
• Alpha-sarcoglycanopathy
• Alpha-thalassemia
• Alpha-thalassemia-abnormal morphogenesis
• Alport syndrome macrothrombocytopenia
• Alport syndrome, dominant type
• Alport syndrome, recessive type
• Alport syndrome
• Alstrom's syndrome
• Alternating hemiplegia of childhood
• Alternating hemiplegia
• Aluminium lung
• Alveolar echinococcosis
• Alveolar soft part sarcoma
• Alveolitis, extrinsic allergic
• Alves Dos Santos Castello syndrome
• Alzheimer disease, familial
• Alzheimer's disease
• Amathophobia
• Amaurosis congenita of Leber, type 1
• Amaurosis congenita of Leber, type 2
• Amaurosis congenita of Leber
• Amaurosis hypertrichosis
• Amaxophobia
• Ambral syndrome
• Ambras syndrome
• Ambulophobia
• Amegakaryocytic thrombocytopenia
• Amelia cleft lip palate hydrocephalus iris coloboma
• Amelia facial dysmorphism
• Amelia X linked
• Amelogenesis Imperfecta hypomaturation type
• Amelogenesis imperfecta local hypoplastic form
• Amelogenesis imperfecta nephrocalcinosis
• Amelogenesis imperfecta
• Ameloonychohypohidrotic syndrome
• Amenorrhea, Primary
• American trypanosomiasis
• Aminoacidopathies
• Aminoaciduria
• Aminopterin antenatal infection
• Aminopterin like syndrome without aminopterin
• Amniotic bands
• Amoebiasis due to Entamoeba histolytica
• Amoebiasis due to free-living amoebae
• Ampola syndrome
• Amychophobia
• Amylo-1,6-glucosidase deficiency
• Amyloid angiopathy
• Amyloid Neuropathies, Familial
• Amyloid polyneuropathy, transthyretin related
• Amyloidosis of gingiva and conjunctiva mental retardation
• Amyloidosis, Familial
• Amyloidosis
• Amylopectinosis
• Amyoplasia mandibulofacial dysostosis
• Amyoplasia
• Amyotonia congenita
• Amyotrophic lateral sclerosis
• Anablephobia
• Anaphylaxis
• Anaplastic thyroid cancer
• Andersen's disease
• Andre syndrome
• Androgen insensitivity syndrome (AIS)
• Anemia sideroblastic spinocerebellar ataxia
• Anemia, Diamond-Blackfan
• Anemia, Hypoplastic, Congenital
• Anemia, Pernicious
• Anemia, Sideroblastic
• Anemia
• Anemophobia
• Anencephaly spina bifida X linked
• Anencephaly
• Aneurysm of sinus of Valsalva
• Aneurysm, intracranial berry
• Aneurysm
• Angel shaped phalangoepiphyseal dysplasia
• Angelman syndrome
• Angiofollicular ganglionic hyperplasia
• Angiofollicular lymph hyperplasia
• Angioimmunoblastic with dysproteinemia lymphadenopathy
• Angiokeratoma mental retardation coarse face
• Angiolipoma
• Angioma hereditary neurocutaneous
• Angiomatosis encephalotrigeminal
• Angiomatosis leptomeningeal capillary - venous
• Angiomatosis systemic cystic Seip syndrome
• Angiomyomatous Hamartoma
• Angioneurotic edema hereditary due to C1 esterase deficiency
• Angiosarcoma of the liver
• Angiosarcoma of the scalp
• Angiostrongyliasis
• Angiotensin renin aldosterone hypertension
• Anguillulosis
• Aniridia absent patella
• Aniridia ataxia renal agenesis psychomotor retardation
• Aniridia cerebellar ataxia mental deficiency
• Aniridia mental retardation syndrome
• Aniridia ptosis mental retardation obesity familial
• Aniridia renal agenesis psychomotor retardation
• Aniridia type 2
• Aniridia, sporadic
• Aniridia
• Anisakiasis
• Ankle defects short stature
• Ankyloblepharon ectodermal defects cleft lip palate
• Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme imperforate anus
• Ankyloglossia heterochromia clasped thumbs
• Ankylosing spondylarthritis
• Ankylosing spondylitis
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis of teeth
• Ankylostomiasis
• Annular constricting bands
• Annular pancreas
• Annuloaortic ectasia
• Anodontia
• Anonychia ectrodactyly
• Anonychia microcephaly
• Anonychia onychodystrophy brachydactyly type B
• Anonychia onychodystrophy
• Anophthalia pulmonary hypoplasia
• Anophthalmia cleft lip palate hypothalamic disorder
• Anophthalmia cleft palate micrognathia
• Anophthalmia esophageal atresia cryptorchidism
• Anophthalmia megalocornea cardiopathy skeletal anomalies
• Anophthalmia microcephaly hypogonadism
• Anophthalmia plus syndrome
• Anophthalmia short stature obesity
• Anophthalmia Waardenburg syndrome
• Anophthalmos with limb anomalies
• Anophthalmos, clinical
• Anorchia
• Anorchidism
• Anorectal anomalies
• Ano-rectal atresia
• Anorexia nervosa
• Anosmia
• Anotia facial palsy cardiac defect
• Anotia
• Ansell Bywaters Elderking syndrome
• Anterior horn disease
• Anterior pituitary insufficiency, familial
• Anthophobia
• Anthrax
• Anti-factor VIII autoimmunization
• Antigen-peptide-transporter 2 deficiency
• Anti-HLA hyperimmunization
• Antihypertensive drugs antenatal infection
• Antinolo Nieto Borrego syndrome
• Antiphospholipid syndrome
• Anti-plasmin deficiency, congenital
• Antisocial personality disorder
• Antisynthetase syndrome
• Antithrombin deficiency, congenital
• Antley-Bixler syndrome
• Antlophobia
• Anton's syndrome
• Aorta-pulmonary artery fistula
• Aortic aneurysm
• Aortic arch anomaly peculiar facies mental retardation
• Aortic arch interruption
• Aortic arches defect
• Aortic coarctation
• Aortic dissection lentiginosis
• Aortic supravalvular stenosis
• Aortic valve stenosis
• Aortic valves stenosis of the child
• Aortic window
• Apert like polydactyly syndrome
• Apert syndrome
• Aphalangia hemivertebrae
• Aphalangia syndactyly microcephaly
• Aphthous stomatitis
• Apiphobia
• Aplasia cutis autosomal recessive
• Aplasia cutis congenita dominant
• Aplasia cutis congenita epibulbar dermoids
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplasia cutis congenita of limbs recessive
• Aplasia cutis congenita recessive
• Aplasia cutis congenita
• Aplasia cutis myopia
• Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
• Aplastic anemia
• Apo A-I deficiency
• Apolipoprotein C-II deficiency
• Apparent mineralocorticoid excess
• Apraxia manual
• Apraxia, Ideomotor
• Apraxia, ocular motor, Cogan type
• Apraxia
• Apudoma
• Aqueductal stenosis, X linked
• Arachindonic acid, absence of
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arachnodactyly mental retardation dysmorphism
• Arachnoid cysts
• Arachnoiditis
• Arakawa'sa syndrome II
• Arbovirosis
• Arc syndrome
• Aredyld syndrome
• AREDYLD
• Arginase deficiency
• Arginemia
• Argininosuccinate synthetase deficiency
• Argininosuccinic aciduria
• Arhinia choanal atresia microphthalmia
• Arnold Stckler Bourne syndrome
• Arnold-Chiari malformation
• Arnold-Chiari syndrome
• Aromatase deficiency
• Aromatic amino acid decarboxylase deficiency
• Arrhinia
• Arrhythmogenic right ventricular dysplasia
• Arroyo Garcia Cimadevilla syndrome
• Arrythmogenic right ventricular dysplasia, familial
• Arterial calcification of infancy
• Arterial dysplasia
• Arterial tortuosity
• Arteriovenous malformation
• Arteritis
• Arthritis short stature deafness
• Arthritis, Juvenile
• Arthritis
• Arthrogryposis due to muscular dystrophy
• Arthrogryposis ectodermal dysplasia other anomalies
• Arthrogryposis epileptic seizures migrational brain disorder
• Arthrogryposis IUGR thoracic dystrophy
• Arthrogryposis like disorder
• Arthrogryposis like hand anomaly sensorineural
• Arthrogryposis multiplex congenita CNS calcification
• Arthrogryposis multiplex congenita distal
• Arthrogryposis multiplex congenita neurogenic type
• Arthrogryposis multiplex congenita pulmonary hypoplasia
• Arthrogryposis multiplex congenita whistling face
• Arthrogryposis multiplex congenita, distal type 1
• Arthrogryposis multiplex congenita, distal type 2
• Arthrogryposis multiplex congenita, distal, x-linked
• Arthrogryposis multiplex congenita
• Arthrogryposis ophthalmoplegia retinopathy
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis spinal muscular atrophy
• Arthrogryposis
• Arylsulfatase A deficiency
• Asbestosis
• Ascher's Syndrome
• Asherman's syndrome
• Aspartylglycosaminuria
• Asperger syndrome
• Aspergillosis
• Asphyxia neonatorum
• Asthenia
• Asthenophobia
• Asthma
• Astrocytoma
• Asymmetric septal hypertrophy
• Ataxia telangiectasia variant V1
• Ataxia telangiectasia
• Ataxia, Marie's
• Ataxiophobia
• Ataxophobia
• Atelosteogenesis, type II
• Athabaskan brain stem dysgenesis
• Athetosis
• Atopic Dermatitis
• Atresia of small intestine
• Atrial myxoma, familial
• Atrial septal defects
• Atrioventricular septal defect
• Atrophoderma of Pierini and Pasini
• ATR-X
• Attention Deficit Disorder with Hyperactivity
• Attenuated FAP
• Atychiphobia
• Atypical lipodystrophy
• Auditory Perceptual Disorder
• Aughton syndrome
• Ausems Wittebol Post Hennekam syndrome
• Autism
• Autoimmune hemolytic anemia
• Autoimmune hepatitis
• Autoimmune peripheral neuropathy
• Autoimmune polyendocrinopathy syndrome, type I
• Automysophobia
• Autonomic dysfunction
• Autonomic nervous system diseases
• Axial mesodermal dysplasia spectrum
• Axial osteomalacia
• Axial osteosclerosis
• Ayazi syndrome

• Baber's syndrome
• Babesiosis
• Bacterial endocarditis
• Bacterial food poisoning
• Bacterial meningitis
• Bacterial pneumonia
• BAER
• Bagatelle Cassidy syndrome
• Bahemuka Brown syndrome
• Baker Vinters syndrome
• Baker-Winegard syndrome
• Balantidiasis
• Ballard syndrome
• Ballistophobia
• Balo disease
• Balo's concentric sclerosis
• Bamforth syndrome
• BANF acoustic neurinoma
• Bangstad syndrome
• Banki syndrome
• Bannayan-Zonana syndrome
• Banti's syndrome
• Bantu siderosis
• Baraitser Brett Piesowicz syndrome
• Baraitser Rodeck Garner syndrome
• Barber Say syndrome
• Bardet-Biedl syndrome, type 1
• Bardet-Biedl syndrome, type 2
• Bardet-Biedl syndrome, type 3
• Bardet-Biedl syndrome, type 4
• Bare lymphocyte syndrome 2
• Bare lymphocyte syndrome
• Baritosis
• Barnicoat Baraitser syndrome
• Barrett syndrome
• Barrow Fitzsimmons syndrome
• Barth syndrome
• Bartonella infections
• Bartsocas Papa syndrome
• Bartter syndrome, antenatal form
• Bartter's disease
• Basal cell nevus anodontia abnormal bone mineralization
• Basal ganglia diseases
• Basan syndrome
• Basaran Yilmaz syndrome
• Basedow's coma
• Basilar artery migraines
• Basilar impression primary
• Bassoe syndrome
• Bathophobia
• Batrachophobia
• Battaglia Neri syndrome
• Batten disease
• Batten Turner muscular dystrophy
• Baughman syndrome
• Bazex-Dupre-Christol syndrome
• Bazopoulou Kyrkanidou syndrome
• B-cell lymphomas
• Bd syndrome
• Beals syndrome
• Beardwell syndrome
• Bébé Collodion syndrome
• Becker disease
• Becker's muscular dystrophy
• Becker's nevus
• Beemer Ertbruggen syndrome
• Beemer Langer syndrome
• Behcet syndrome
• Behr syndrome
• Behrens Baumann Dust syndrome
• Bejel
• Bellini Chiumello Rinoldi syndrome
• Bell's palsy
• Ben Ari Shuper Mimouni syndrome
• Benallegue Lacete syndrome
• Bencze syndrome
• Benign astrocytoma
• Benign autosomal dominant myopathy
• Benign congenital hypotonia
• Benign essential blepharospasm
• Benign essential tremor syndrome
• Benign familial hematuria
• Benign familial infantile convulsions
• Benign familial infantile epilepsy
• Benign lymphoma
• Benign mucosal pemphigoid
• Benign paroxysmal positional vertigo
• Bentham Driessen Hanveld syndrome
• Berardinelli-Seip congenital lipodystrophy
• Berdon syndrome
• Berger disease
• Berlin Breakage syndrome
• Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
• Berylliosis
• Besnier-Boeck-Schaumann disease
• Beta ketothiolase deficiency
• Beta-galactosidase-1 deficiency
• Beta-mannosidosis
• Beta-sarcoglycanopathy
• Beta-thalassemia major anemia
• Beta-thalassemia
• Bethlem myopathy
• Bhaskar Jagannathan syndrome
• Bibliophobia
• Bickel Fanconi glycogenosis
• Bicuspid aortic valve
• Bidirectional tachycardia
• Biemond syndrome type 1
• Biemond syndrome type 2
• Biemond syndrome
• Biermer disease
• Bifid nose dominant
• Bilateral renal agenesis dominant type
• Bilateral renal agenesis
• Biliary atresia, extrahepatic
• Biliary atresia, intrahepatic, non syndromic form
• Biliary atresia, intrahepatic, syndromic form
• Biliary atresia
• Biliary cirrhosis
• Biliary hypoplasia
• Biliary malformation renal tubular insufficiency
• Biliary tract cancer
• Billard Toutain Maheut syndrome
• Billet Bear syndrome
• Bindewald Ulmer Muller syndrome
• Binswanger's disease
• Biotinidase deficiency
• Bird headed dwarfism Montreal type
• Birdshot chorioretinopathy
• Birt-Hogg-Dube syndrome
• Bixler Christian Gorlin syndrome
• Bjornstad syndrome
• Bladder neoplasm
• Blaichman syndrome
• Blastoma
• Blastomycosis
• Blepharo cheilo dontic syndrome
• Blepharo facio skeletal syndrome
• Blepharo naso facial syndrome Van maldergem type
• Blepharonasofacial malformation syndrome
• Blepharophimosis nasal groove growth retardation
• Blepharophimosis ptosis esotropia syndactyly short
• Blepharophimosis ptosis syndactyly mental retardation
• Blepharophimosis syndrome Ohdo type
• Blepharophimosis, ptosis, epicanthus inversus
• Blepharophimosis
• Blepharoptosis aortic anomaly
• Blepharoptosis cleft palate ectrodactyly dental anomalies
• Blepharoptosis myopia ectopia lentis
• Blepharospasm
• Blethen Wenick Hawkins syndrome
• Blomstrand syndrome
• Blood Coagulation Disorders, Inherited
• Blood platelet disorders
• Blood vessel disorder
• Bloom syndrome
• Blount disease
• Blue cone monochromatism
• Blue diaper syndrome
• Blue rubber bleb nevus
• BOD syndrome
• Boder syndrome
• Bone development disorder
• Bone dysplasia Azouz type
• Bone dysplasia corpus callosum agenesis
• Bone dysplasia lethal Holmgren type
• Bone dysplasia Moore type
• Bone fragility craniosynostosis proptosis hydrocephalus
• Bone marrow failure neurologic abnormalities
• Bone marrow failure
• Bone neoplasms
• Bone tumor (generic term)
• Bonneau-Beaumont syndrome
• Bonneman Meinecke Reich syndrome
• Bonnemann Meinecke syndrome
• Bonnevie Ullrich Turner syndrome
• Book syndrome
• Boomerang dysplasia
• Booth Haworth Dilling syndrome
• BOR syndrome
• Borjeson Syndrome
• Bork Stender Schmidt syndrome
• Borreliosis
• Borrone Di Rocco Crovato syndrome
• Boscherini Galasso Manca Bitti syndrome
• Bosma Henkin Christiansen syndrome
• Bothriocephalosis
• Botulism
• Boucher Neuhauser syndrome
• Boudhina Yedes Khiari syndrome
• Bourneville syndrome, type 1
• Bourneville syndrome, type 2
• Bourneville syndrome
• Bowen syndrome
• Bowen-Conradi syndrome
• Bowenoid papulosis
• Bowen's disease
• Bowing congenital short bones
• Bowing of long bones congenital
• Boylan Dew Greco syndrome
• Brachioskeletogenital syndrome
• Brachman-de Lange syndrome
• Brachycephalofrontonasal dysplasia
• Brachycephaly deafness cataract mental retardation
• Brachydactylous dwarfism Mseleni type
• Brachydactyly absence of distal phalanges
• Brachydactyly anonychia
• Brachydactyly clinodactyly
• Brachydactyly dwarfism mental retardation
• Brachydactyly elbow wrist dysplasia
• Brachydactyly hypertension
• Brachydactyly long thumb type
• Brachydactyly mesomelia mental retardation heart defects
• Brachydactyly nystagmus cerebellar ataxia
• Brachydactyly preaxial hallux varus
• Brachydactyly scoliosis carpal fusion
• Brachydactyly small stature face anomalies
• Brachydactyly Smorgasbord type
• Brachydactyly tibial hypoplasia
• Brachydactyly type a1
• Brachydactyly type a2
• Brachydactyly type a3
• Brachydactyly type A5 nail dysplasia
• Brachydactyly type a6
• Brachydactyly type a7
• Brachydactyly type B
• Brachydactyly type C
• Brachydactyly type e
• Brachydactyly types b and e combined
• Brachymesomelia renal syndrome
• Brachymesophalangy 2 and 5
• Brachymesophalangy mesomelic short limbs osseous anomalies
• Brachymesophalangy type 2
• Brachymetapody anodontia hypotrichosis albinoidism
• Brachymorphism onychodysplasia dysphalangism syndrome
• Brachyolmia recessive Hobaek type
• Brachyolmia
• Brachytelephalangy characteristic facies Kallmann
• Braddock Carey syndrome
• Braddock Jones Superneau syndrome
• Bradykinesia
• Brain cavernous angioma
• Brain Neoplasms
• Brain Stem Neoplasms
• Branchial arch defects
• Branchial arch syndrome X linked
• Branchio oculo facial syndrome Hing type
• Branchio-oculo-facial syndrome
• Branchiootorenal syndrome
• Breast and ovarian cancer
• Breast cancer, familial
• Bright's Disease
• Brittle bone disease
• Brittle bone syndrome lethal type
• Brittle cornea syndrome
• Broad beta disease
• Broad-betalipoproteinemia
• Bromidrosiphobia
• Bronchiectasis oligospermia
• Bronchiolitis obliterans with obstructive pulmonary disease
• Bronchiolotis obliterans organizing pneumonia (BOOP)
• Bronchitis, Chronic
• Bronchogenic cyst
• Bronchopulmonary amyloidosis
• Bronchopulmonary dysplasia
• Brown syndrome
• Brown-Sequard syndrome
• Brucellosis
• Bruck syndrome
• Brugada syndrome
• Brunoni syndrome
• Bruton type agammaglobulinemia
• Bruyn Scheltens syndrome
• Budd-Chiari syndrome
• Buerger's disease
• Bulbospinal amyotrophy, X-linked
• Bulimia nervosa
• Bull Nixon syndrome
• Bullous dystrophy macular type
• Bullous ichtyosiform erythroderma congenita
• Bullous pemphigoid
• Buntinx Lormans Martin syndrome
• Burkitt's lymphoma
• Burn Goodship syndrome
• Burnett Schwartz Berberian syndrome
• Burning mouth syndrome- Type 3
• Burning mouth syndrome
• Buschke Ollendorff syndrome
• Bustos Simosa Pinto Cisternas syndrome
• Buttiens Fryns syndrome
• Butyrylcholinesterase deficiency
• Byssinosis

• C syndrome
• C1 esterase deficiency, (type 2 with ascites)
• Cacchi Ricci disease
• CACH syndrome
• Cacophobia
• Cafe au lait spots syndrome
• Caffey disease
• CAHMR syndrome
• Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
• Calciphylaxis
• Calculi
• Calderon Gonzalez Cantu syndrome
• Calloso genital dysplasia
• Callus disease
• Calpainopathy
• Calvarial hyperostosis
• Camera Marugo -Cohen syndrome
• Camfak syndrome
• Campomelia Cumming type
• Camptobrachydactyly
• Camptocormism
• Camptodactyly fibrous tissue hyperplasia skeletal dysplasia
• Camptodactyly joint contractures facial skeletal dysplasia
• Camptodactyly overgrowth unusual facies
• Camptodactyly syndrome Guadalajara type 1
• Camptodactyly syndrome Guadalajara type 2
• Camptodactyly taurinuria
• Camptodactyly vertebral fusion
• Camptomelic syndrome
• Camurati Engelmann disease
• Canavan leukodystrophy
• Candidiasis familial chronic
• Candidiasis
• Cantalamessa Baldini Ambrosi syndrome
• Cantu Sanchez Corona Fragoso syndrome
• Cantu Sanchez Corona Garcia syndrome
• Cantu Sanchez Corona Hernandes syndrome
• Capillary leak syndrome with monoclonal gammopathy
• Capillary venous leptomeningeal angiomatosis
• Capos syndrome
• Caratolo Cilio Pessagno syndrome
• Carbamoyl phosphate synthetase deficiency
• Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
• Carbohydrate deficient glycoprotein syndrome
• Carbon baby syndrome
• Carbonic anhydrase II deficiency
• Carcinoid syndrome
• Carcinoma of the vocal tract
• Carcinoma, squamous cell of head and neck
• Carcinoma, squamous cell
• Carcinophobia
• Cardiac and laterality defects
• Cardiac conduction defect, familial
• Cardiac diverticulum
• Cardiac hydatid cysts with intracavitary expansion
• Cardiac malformation
• Cardiac valvular dysplasia, X-linked
• Cardioauditory syndrome of Sanchez- Cascos
• Cardioauditory syndrome
• Cardiofacial syndrome short limbs
• Cardio-facio-cutaneous syndrome
• Cardiogenital syndrome
• Cardiomelic syndrome Stratton Koehler type
• Cardiomyopathic lentiginosis
• Cardiomyopathy cataract hip spine disease
• Cardiomyopathy diabetes deafness
• Cardiomyopathy dilated with conduction defect type 1
• Cardiomyopathy dilated with conduction defect type 2
• Cardiomyopathy due to anthracyclines
• Cardiomyopathy hearing loss type t RNA lysine gene mutation
• Cardiomyopathy hypogonadism metabolic anomalies
• Cardiomyopathy spherocytosis
• Cardiomyopathy, familial dilated
• Cardiomyopathy, familial hypertrophic
• Cardiomyopathy, fatal fetal, due to myocardial calcification
• Cardiomyopathy, Hypertrophic, Familial
• Cardiomyopathy, X linked, fatal infantile
• Cardiophobia
• Cardioskeletal myopathy-neutropenia
• Cardiospasm
• Carey Fineman Ziter syndrome
• Carnevale Canun Mendoza syndrome
• Carnevale Hernandez Castillo syndrome
• Carnevale Krajewska Fischetto syndrome
• Carney syndrome
• Carnitine palmitoyl transferase 1 deficiency
• Carnitine palmitoyl transferase 2 deficiency
• Carnitine palmitoyl transferase deficiency
• Carnitine transporter deficiency
• Carnitine-acylcarnitine translocase deficiency
• Carnophobia
• Carnosinase deficiency
• Carnosinemia
• Caroli disease
• Carpal deformity migrognathia microstomia
• Carpal tunnel syndrome
• Carpenter Hunter type
• Carpenter syndrome
• Carpo tarsal osteolysis recessive
• Carpotarsal osteochondromatosis
• Carrington syndrome
• Cartilage hair hypoplasia like syndrome
• Cartilaginous neoplasms
• Cartwright Nelson Fryns syndrome
• Cassia Stocco Dos Santos syndrome
• Castleman's disease
• Castro Gago Pombo Novo syndrome
• Cat cry syndrome
• Cat Eye syndrome
• Cat Rodrigues syndrome
• Cat Scratch Disease
• Catagelophobia
• Catamenial Pneumothorax
• Catapedaphobia
• Cataract ,congenital ichthyosis
• Cataract aberrant oral frenula growth retardation
• Cataract anterior polar dominant
• Cataract ataxia deafness
• Cataract cardiomyopathy
• Cataract congenital autosomal dominant
• Cataract congenital dominant non nuclear
• Cataract congenital Volkmann type
• Cataract congenital with microphthalmia
• Cataract dental syndrome
• Cataract Hutterite type
• Cataract hypertrichosis mental retardation
• Cataract mental retardation hypogonadism
• Cataract microcornea syndrome
• Cataract microphthalmia septal defect
• Cataract skeletal anomalies
• Cataract, alopecia, sclerodactyly
• Cataract, congenital, with microcornea or slight microphthalmia
• Cataract, total congenital
• Cataract-glaucoma
• CATCH 22 syndrome
• Catecholamine hypertension
• Catel Manzke syndrome
• Caudal appendage deafness
• Caudal duplication
• Caudal regression syndrome
• Causalgia
• Cavernous hemangioma
• Cavernous lymphangioma
• Cayler syndrome
• CCA syndrome
• Ccge syndrome
• CCHS
• CDG syndrome type 1A
• CDG syndrome type 1B
• CDG syndrome type 1C
• CDG syndrome type 2
• CDG syndrome type 3
• CDG syndrome type 4
• CDG syndrome
• CDK4 linked melanoma
• Cecato De lima Pinheiro syndrome
• Celiac disease epilepsy occipital calcifications
• Celiac sprue
• Cenani Lenz syndactylism
• Cennamo Gangemi syndrome
• Central core disease
• Central diabetes insipidus
• Central nervous system protozoal infections
• Central serous chorioretinopathy
• Central type neurofibromatosis
• Centromeric instability immunodeficiency syndrome
• Centronuclear myopathy
• Centrotemporal epilepsy
• Cephalopolysyndactyly
• Ceramidase deficiency
• Ceramide trihexosidosis
• Ceraunophobia
• Cerebellar agenesis
• Cerebellar ataxia areflexia pes cavus optic atrophy
• Cerebellar ataxia ectodermal dysplasia
• Cerebellar ataxia infantile with progressive external ophthalmoplegia
• Cerebellar ataxia, dominant pure
• Cerebellar ataxia
• Cerebellar degeneration, subacute
• Cerebellar degeneration
• Cerebellar hypoplasia endosteal sclerosis
• Cerebellar hypoplasia tapetoretinal degeneration
• Cerebellar hypoplasia
• Cerebellar parenchymal degeneration
• Cerebelloolivary atrophy
• Cerebelloparenchymal disorder 3
• Cerebellum agenesis hydrocephaly
• Cerebral Amyloid Angiopathy, Familial
• Cerebral amyloid angiopathy
• Cerebral aneurysm
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Cerebral calcification cerebellar hypoplasia
• Cerebral calcifications opalescent teeth phosphaturia
• Cerebral cavernous malformation
• Cerebral cavernous malformations
• Cerebral gigantism jaw cysts
• Cerebral gigantism
• Cerebral malformations hypertrichosis claw hands
• Cerebral palsy
• Cerebral ventricle neoplasm
• Cerebro facio articular syndrome
• Cerebro facio thoracic dysplasia
• Cerebro oculo dento auriculo skeletal syndrome
• Cerebro oculo genital syndrome
• Cerebro oculo skeleto renal syndrome
• Cerebro reno digital syndrome
• Cerebroarthrodigital syndrome
• Cerebro-costo-mandibular syndrome
• Cerebro-oculo-facio-skeletal syndrome
• Cerebroretinal vasculopathy
• Ceroid lipofuscinose, neuronal 1, infantile
• Ceroid lipofuscinose, neuronal 2, late infantile
• Ceroid lipofuscinose, neuronal 3, juvenile
• Ceroid lipofuscinose, neuronal 4, adult type
• Ceroid lipofuscinose, neuronal 5, late infantile,
• Ceroid lipofuscinose, neuronal 6, late infantile
• Ceroid lipofuscinose, neuronal
• Ceroid lipofuscinosis, neuronal 4
• Cervical cancer
• Cervical hypertrichosis neuropathy
• Cervical hypertrichosis peripheral neuropathy
• Cervical ribs sprengel anomaly polydactyly
• Cervical vertebral fusion
• Cervicooculoacoustic syndrome
• Chagas disease
• Chalazion
• Chanarin disease
• Chanarin Dorfman syndrome ichthyosis
• Chandler's syndrome
• Chands syndrome
• Chang Davidson Carlson syndrome
• Chaotic atrial tachycardia
• Char syndrome
• Charcot disease
• Charcot Marie tooth disease deafness dominant type
• Charcot Marie tooth disease deafness mental retardation
• Charcot Marie Tooth disease deafness recessive type
• Charcot Marie Tooth type 1 aplasia cutis congenita
• Charcot-Marie-Tooth disease, X-linked type 2, recessive
• Charcot-Marie-Tooth disease, X-linked type 3, recessive
• Charcot-Marie-Tooth disease type 1A
• Charcot-Marie-Tooth disease type 1B
• Charcot-Marie-Tooth disease type 1C
• Charcot-Marie-Tooth disease type 2A
• Charcot-Marie-Tooth disease type 2B1
• Charcot-Marie-Tooth disease type 2B2
• Charcot-Marie-Tooth disease type 2C
• Charcot-Marie-Tooth disease type 2D
• Charcot-Marie-Tooth disease type 4A
• Charcot-Marie-Tooth disease type 4B
• Charcot-Marie-Tooth disease with ptosis and parkinsonism
• Charcot-Marie-Tooth disease, intermediate form
• Charcot-Marie-Tooth disease, neuronal, type A
• Charcot-Marie-Tooth disease, neuronal, type B
• Charcot-Marie-Tooth disease, neuronal, type D
• Charcot-Marie-tooth disease
• Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
• CHARGE Association
• Charlie M syndrome
• Chavany-Brunhes syndrome
• Chediak-Higashi syndrome
• Cheilitis glandularis
• Chemke Oliver Mallek syndrome
• Chemodectoma
• Chemophobia
• Chen-Kung Ho Kaufman Mcalister syndrome
• Cherubism
• Chiari type 1 malformation
• Chiari-Frommel syndrome
• Chikungunya
• CHILD syndrome ichthyosis
• Childhood disintegrative disorder
• Childhood pustular psoriasis
• Chionophobia
• Chiraptophobia
• Chirophobia
• Chitayat Haj Chahine syndrome
• Chitayat Meunier Hodgkinson syndrome
• Chitayat Moore Del Bigio syndrome
• Chitty Hall Baraitser syndrome
• Chitty Hall Webb syndrome
• Chlamydia
• Chlamydial and Gonococcal Conjunctivitis
• Choanal atresia deafness cardiac defects dysmorphia
• Cholangiocarcinoma
• Cholangitis, primary sclerosing
• Cholecystitis
• Choledochal cyst, hand malformation
• Cholemia, familial
• Cholera
• Cholerophobia
• Cholestasis pigmentary retinopathy cleft palate
• Cholestasis, progressive familial intrahepatic 1
• Cholestasis, progressive familial intrahepatic 2
• Cholestasis, progressive familial intrahepatic 3
• Cholestasis, progressive familial intrahepatic
• Cholestasis
• Cholestatic jaundice renal tubular insufficiency
• Cholesterol ester storage disease
• Cholesterol esterification disorder
• Cholesterol pneumonia
• Chondroblastoma (benign)
• Chondrocalcinosis familial articular
• Chondrocalcinosis
• Chondrodysplasia lethal recessive
• Chondrodysplasia pseudohermaphrodism syndrome
• Chondrodysplasia punctata 1, x-linked recessive
• Chondrodysplasia punctata with steroid sulfatase deficiency
• Chondrodysplasia punctata, brachytelephalangic
• Chondrodysplasia punctata, Sheffield type
• Chondrodysplasia punctata
• Chondrodysplasia situs inversus imperforate anus polydactyly
• Chondrodysplasia, Grebe type
• Chondrodystrophy
• Chondroectodermal dysplasia
• Chondroma (benign)
• Chondromalacia
• Chondromatosis (benign)
• Chondrosarcoma (malignant)
• Chondrysplasia punctata, humero-metacarpal type
• Chordoma
• Chorea acanthocytosis
• Chorea familial benign
• Chorea minor
• Chorea
• Choreoacanthocytosis amyotrophic
• Choreoathetosis familial paroxysmal
• Choriocarcinoma
• Chorioretinitis
• Chorioretinopathy dominant form microcephaly
• Choroid plexus cyst
• Choroid Plexus neoplasms
• Choroidal atrophy alopecia
• Choroideremia hypopituitarism
• Choroideremia
• Choroiditis, serpiginous
• Choroiditis
• Choroido cerebral calcification syndrome infantile
• Chorophobia
• Christian Demyer Franken syndrome
• Christian Johnson Angenieta syndrome
• Christian syndrome
• Christianson Fourie syndrome
• Christmas disease
• Chromomycosis
• Chromophobe renal carcinoma
• Chromophobia
• Chromosomal triplication
• Chromosome 1 ring
• Chromosome 1, 1p36 deletion syndrome
• Chromosome 1, deletion q21 q25
• Chromosome 1, duplication 1p21 p32
• Chromosome 1, monosomy 1p
• Chromosome 1, monosomy 1p22 p13
• Chromosome 1, monosomy 1p31 p22
• Chromosome 1, monosomy 1p32
• Chromosome 1, monosomy 1p34 p32
• Chromosome 1, monosomy 1q25 q32
• Chromosome 1, monosomy 1q32 q42
• Chromosome 1, monosomy 1q4
• Chromosome 1, q42 11 q42 12 duplication
• Chromosome 1, trisomy 1q32 qter
• Chromosome 1, trisomy 1q42 qter
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 1q, duplication 1q12 q21
• Chromosomes 1 and 2, monosomy 2q duplication 1p
• Chromosome 2, monosomy 2p22
• Chromosome 2, monosomy 2pter p24
• Chromosome 2, monosomy 2q
• Chromosome 2, monosomy 2q24
• Chromosome 2, monosomy 2q37
• Chromosome 2, trisomy 2p
• Chromosome 2, Trisomy 2p13 p21
• Chromosome 2, trisomy 2pter p24
• Chromosome 2, trisomy 2q
• Chromosome 2, trisomy 2q37
• Chromosome 3 duplication syndrome
• Chromosome 3, monosomy 3p
• Chromosome 3, monosomy 3p14 p11
• Chromosome 3, monosomy 3p2
• Chromosome 3, monosomy 3p25
• Chromosome 3, monosomy 3q13
• Chromosome 3, monosomy 3q21 23
• Chromosome 3, monosomy 3q27
• Chromosome 3, trisomy 3p
• Chromosome 3, trisomy 3p25
• Chromosome 3, trisomy 3q
• Chromosome 3, trisomy 3q13 2 q25
• Chromosome 3, Trisomy 3q2
• Chromosome 4 ring
• Chromosome 4 short arm deletion
• Chromosome 4, monosomy 4p14 p16
• Chromosome 4, monosomy 4q
• Chromosome 4, monosomy 4q32
• Chromosome 4, monosomy distal 4q
• Chromosome 4, partial trisomy distal 4q
• Chromosome 4, Trisomy 4p
• Chromosome 4, trisomy 4q
• Chromosome 4, trisomy 4q21
• Chromosome 4, trisomy 4q25 qter
• Chromosome 5, monosomy 5q35
• Chromosome 5, trisomy 5p
• Chromosome 5, trisomy 5pter p13 3
• Chromosome 5, trisomy 5q
• Chromosome 5, uniparental disomy
• Chromosome 6 ring
• Chromosome 6, deletion 6q13 q15
• Chromosome 6, monosomy 6p23
• Chromosome 6, monosomy 6q
• Chromosome 6, monosomy 6q1
• Chromosome 6, monosomy 6q2
• Chromosome 6, partial trisomy 6q
• Chromosome 6, trisomy 6p
• Chromosome 6, trisomy 6q
• Chromosome 7 ring
• Chromosome 7, monosomy 7q2
• Chromosome 7, monosomy 7q21
• Chromosome 7, monosomy 7q3
• Chromosome 7, monosomy
• Chromosome 7, partial monosomy 7p
• Chromosome 7, trisomy 7p
• Chromosome 7, trisomy 7p13 p12 2
• Chromosome 7, trisomy 7q
• Chromosome 7, trisomy mosaic
• Chromosome 8 deletion
• Chromosome 8 ring
• Chromosome 8, monosomy 8p
• Chromosome 8, monosomy 8p2
• Chromosome 8, monosomy 8p23 1
• Chromosome 8, monosomy 8q
• Chromosome 8, mosaic trisomy
• Chromosome 8, partial trisomy
• Chromosome 8, trisomy 8p
• Chromosome 8, trisomy 8q
• Chromosome 8, trisomy
• Chromosome 9 inversion or duplication
• Chromosome 9 Ring
• Chromosome 9, duplication 9q21
• Chromosome 9, monosomy 9p
• Chromosome 9, partial monosomy 9p
• Chromosome 9, partial trisomy 9p
• Chromosome 9, tetrasomy 9p
• Chromosome 9, trisomy 9q
• Chromosome 9, trisomy 9q32
• Chromosome 9, trisomy mosaic
• Chromosome 9, trisomy
• Chromosome 10 ring
• Chromosome 10, distal trisomy 10q
• Chromosome 10, monosomy 10p
• Chromosome 10, monosomy 10q
• Chromosome 10, trisomy 10p
• Chromosome 10, trisomy 10pter p13
• Chromosome 10, trisomy 10q
• Chromosome 10, uniparental disomy of
• Chromosome 10p terminal deletion syndrome
• Chromosome 11, deletion 11p
• Chromosome 11, partial trisomy 11q
• Chromosome 11-14 translocation
• Chromosome 11p, partial deletion
• Chromosome 11q partial deletion
• Chromosome 11q trisomy
• Chromosome 12 ring
• Chromosome 12, 12p trisomy
• Chromosome 12, trisomy 12q
• Chromosome 12p deletion
• Chromosome 12p partial deletion
• Chromosome 13 duplication
• Chromosome 13 ring
• Chromosome 13, partial monosomy 13q
• Chromosome 13p duplication
• Chromosome 13q deletion
• Chromosome 13q trisomy
• Chromosome 13q-mosaicism
• Chromosome 14 ring
• Chromosome 14 trisomy
• Chromosome 14, deletion 14q, partial duplication 14p
• Chromosome 14, trisomy mosaic
• Chromosome 14q, partial deletions
• Chromosome 14q, proximal duplication
• Chromosome 14q, terminal deletion
• Chromosome 14q, terminal duplication
• Chromosome 15 ring
• Chromosome 15, distal trisomy 15q
• Chromosome 15, trisomy mosaicism
• Chromosome 15q, partial deletion
• Chromosome 15q, tetrasomy
• Chromosome 15q, trisomy
• Chromosome 16, trisomy 16p
• Chromosome 16, trisomy 16q
• Chromosome 16, trisomy
• Chromosome 16, uniparental disomy
• Chromosome 17 trisomy
• Chromosome 17 deletion
• Chromosome 17 ring
• Chromosome 17, deletion 17q23 q24
• Chromosome 17, trisomy 17p
• Chromosome 17, trisomy 17p11 2
• Chromosome 17, trisomy 17q22
• Chromosome 18 long arm deletion syndrome
• Chromosome 18 mosaic monosomy
• Chromosome 18 ring
• Chromosome 18, deletion 18q23
• Chromosome 18, monosomy 18p
• Chromosome 18, tetrasomy 18p
• Chromosome 18, trisomy 18p
• Chromosome 18, trisomy 18q
• Chromosome 18, trisomy
• Chromosome 19 ring
• Chromosome 19, trisomy 19q
• Chromosome 20 ring
• Chromosome 20, deletion 20p
• Chromosome 20, duplication 20p
• Chromosome 20, trisomy
• Chromosome 21 monosomy
• Chromosome 21 ring
• Chromosome 21, monosomy 21q22
• Chromosome 21, tetrasomy 21q
• Chromosome 21, uniparental disomy of
• Chromosome 22 ring
• Chromosome 22 trisomy mosaic
• Chromosome 22, microdeletion 22 q11
• Chromosome 22, monosome mosaic
• Chromosome 22, trisomy q11 q13
• Chromosome 22, trisomy
• Chronic berylliosis
• Chronic demyelinizing neuropathy with IgM monoclonal
• Chronic erosive gastritis
• Chronic fatigue immune dysfunction syndrome
• Chronic granulomatous disease
• Chronic hiccup
• Chronic inflammatory demyelinating polyneuropathy
• Chronic lymphocytic leukemia
• Chronic myelogenous leukemia
• Chronic myelomonocytic leukemia
• Chronic necrotizing vasculitis
• Chronic neutropenia
• Chronic polyradiculoneuritis
• Chronic recurrent multifocal osteomyelitis
• Chronic renal failure
• Chronic spasmodic dysphonia
• Chronic, infantile, neurological, cutaneous, articular syndrome
• Chronomentrophobia
• Chudley Lowry Hoar syndrome
• Chudley Rozdilsky syndrome
• Chudley-Mccullough syndrome
• Churg-Strauss syndrome
• Chylous ascites
• Cicatricial pemphigoid
• Ciguatera fish poisoning
• Ciliary discoordination, due to random ciliary orientation
• Ciliary dyskinesia, due to transposition of ciliary microtubules
• Ciliary dyskinesia-bronchiectasis
• Cilliers Beighton syndrome
• Circumscribed cutaneous aplasia of the vertex
• Circumscribed disseminated keratosis Jadassohn Lew type
• Citrullinemia
• Clarkson disease
• Clayton Smith Donnai syndrome
• Cleft hand absent tibia
• Cleft lip and palate malrotation cardiopathy
• Cleft lip and/or palate with mucous cysts of lower
• Cleft lip palate abnormal thumbs microcephaly
• Cleft lip palate deafness sacral lipoma
• Cleft lip palate dysmorphism Kumar type
• Cleft lip palate ectrodactyly
• Cleft lip palate incisor and finger anomalies
• Cleft lip palate mental retardation corneal opacity
• Cleft lip palate oligodontia syndactyly pili torti
• Cleft lip palate pituitary deficiency
• Cleft lip palate-tetraphocomelia
• Cleft lip with or without cleft palate
• Cleft lip
• Cleft lower lip cleft lateral canthi chorioretinal
• Cleft palate cardiac defect ectrodactyly
• Cleft palate colobomata radial synostosis deafness
• Cleft palate heart disease polydactyly absent tibia
• Cleft palate lateral synechia syndrome
• Cleft palate short stature vertebral anomalies
• Cleft palate stapes fixation oligodontia
• Cleft palate X linked
• Cleft palate
• Cleft tongue syndrome
• Cleft upper lip median cutaneous polyps
• Clefting ectropion conical teeth
• Cleidocranial dysplasia micrognathia absent thumbs
• Cleidocranial dysplasia
• Cleisiophobia
• Climacophobia
• Clinophobia
• Cloacal exstrophy
• Clouston syndrome
• Cloverleaf skull bone dysplasia
• Cloverleaf skull micromelia thoracic dysplasia
• Cluster headache
• CMV antenatal infection
• Coach syndrome
• Coal worker's pneumoconiosis
• Coarctation of aorta dominant
• Coarse face hypotonia constipation
• Coats disease
• Cocaine antenatal infection
• Cocaine fetopathy
• Cochin Jewish Disorder
• Cockayne syndrome type 1
• Cockayne syndrome type 2
• Cockayne syndrome type 3
• Cockayne's syndrome
• Codas syndrome
• Coenzyme Q cytochrome c reductase deficiency of
• Coffin-Lowry syndrome
• Coffin-Siris syndrome
• COFS syndrome
• Cogan-Reese syndrome
• Cogan's syndrome
• Cohen Hayden syndrome
• Cohen Lockood Wyborney syndrome
• Cohen syndrome
• Colavita Kozlowski syndrome
• Cold agglutination syndrome
• Cold agglutinin disease
• Cold antibody hemolytic anemia
• Cold contact urticaria
• Cold urticaria
• Cole carpenter syndrome
• Coleman Randall syndrome
• Collagen disorder
• Collagenous colitis
• Collins Pope syndrome
• Collins Sakati syndrome
• Coloboma chorioretinal cerebellar vermis aplasia
• Coloboma hair abnormality
• Coloboma of choroid and retina
• Coloboma of eye lens
• Coloboma of iris
• Coloboma of lens ala nasi
• Coloboma of macula type B brachydactyly
• Coloboma of macula
• Coloboma of optic nerve
• Coloboma of optic papilla
• Coloboma porencephaly hydronephrosis
• Coloboma uveal with cleft lip palate and mental retardation
• Coloboma, ocular
• Colobomata unilobar lung heart defect
• Colobomatous microphthalmia heart disease hearing
• Colobomatous microphthalmia
• Colon cancer, familial nonpolyposis
• Colonic atresia
• Colonic malakoplakia
• Colorado tick fever
• Colver Steer Godman syndrome
• Combarros Calleja Leno syndrome
• Combined hyperlipidemia, familial
• Common mesentery
• Common variable immunodeficiency
• Compartment syndrome
• Complement component 2 deficiency
• Complement component receptor 1
• Complete atrioventricular canal
• Complex 1 mitochondrial respiratory chain deficiency
• Complex 2 mitochondrial respiratory chain deficiency
• Complex 3 mitochondrial respiratory chain deficiency
• Complex 4 mitochondrial respiratory chain deficiency
• Complex 5 mitochondrial respiratory chain deficiency
• Conductive deafness malformed external ear
• Conductive hearing loss
• Condyloma acuminatum
• Condyloma
• Cone dystrophy
• Cone rod dystrophy amelogenesis imperfecta
• Cone rod dystrophy
• Congenital absence of the uterus and vagina
• Congenital adrenal hyperplasia type 1
• Congenital adrenal hyperplasia type 2
• Congenital adrenal hyperplasia type 3
• Congenital adrenal hyperplasia type 4
• Congenital adrenal hyperplasia type 5
• Congenital adrenal hyperplasia
• Congenital afibrinogenemia
• Congenital alopecia X linked
• Congenital amputation
• Congenital aneurysms of the great vessels
• Congenital antithrombin III deficiency
• Congenital aplastic anemia
• Congenital arteriovenous shunt
• Congenital articular rigidity
• Congenital benign spinal muscular atrophy dominant
• Congenital brain disorder
• Congenital bronchobiliary fistula
• Congenital cardiovascular disorder
• Congenital cardiovascular malformations
• Congenital cardiovascular shunt
• Congenital constricting band
• Congenital contractual arachnodactyly
• Congenital contractures
• Congenital craniosynostosis maternal hyperthyroiditis
• Congenital cystic adenomatoid malformation
• Congenital cystic eye multiple ocular and intracranial anomalies
• Congenital cytomegalovirus
• Congenital deafness
• Congenital diaphragmatic hernia
• Congenital erythropoietic porphyria
• Congenital facial diplegia
• Congenital fiber type disproportion
• Congenital gastrointestinal disorder
• Congenital generalized fibromatosis
• Congenital giant megaureter
• Congenital heart block
• Congenital heart disease ptosis hypodontia craniostosis
• Congenital heart disease radio ulnar synostosis mental retardation
• Congenital heart disorder
• Congenital heart septum defect
• Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
• Congenital hemolytic anemia
• Congenital hepatic fibrosis
• Congenital hepatic porphyria
• Congenital herpes simplex
• Congenital hypomyelination neuropathy
• Congenital hypothyroidism
• Congenital hypotrichosis milia
• Congenital ichthyosis, microcephalus, quadriplegia
• Congenital ichthyosis
• Congenital ichtyosiform erythroderma
• Congenital kidney disorder
• Congenital lobar emphysema
• Congenital megacolon
• Congenital megalo-ureter
• Congenital mesoblastic nephroma
• Congenital microvillous atrophy
• Congenital mitral malformation
• Congenital mitral stenosis
• Congenital mixovirus
• Congenital mumps
• Congenital muscular dystrophy syringomyelia
• Congenital myopathy
• Congenital nephrotic syndrome, Finnish type
• Congenital nonhemolytic jaundice
• Congenital rubella
• Congenital short bowel
• Congenital short femur
• Congenital skeletal disorder
• Congenital skin disorder
• Congenital spherocytic anemia
• Congenital spherocytic hemolytic anemia
• Congenital stenosis of cervical medullary canal
• Congenital sucrose isomaltose malabsorption
• Congenital syphilis
• Congenital toxoplasmosis
• Congenital unilateral pulmonary hypoplasia
• Congenital vagal hyperreflexivity
• Congenital varicella syndrome
• Conjunctivitis ligneous
• Conjunctivitis with Pseudomembrane
• Conjunctivitis
• Connective tissue dysplasia Spellacy type
• Connexin 26 anomaly
• Conn's syndrome
• Conotruncal heart malformations
• Conradi-Hünermann syndrome
• Constitutional growth delay
• Constrictive bronchiolitis
• Continuous muscle fiber activity hereditary
• Continuous spike-wave during slow sleep syndrome
• Contractural arachnodactyly
• Contractures ectodermal dysplasia cleft lip palate
• Contractures hyperkeratosis lethal
• Contractures of feet-muscle atrophy-oculomotor apraxia
• Conversion disorder
• Convulsions benign familial neonatal dominant form
• Convulsions benign familial neonatal
• Cooks syndrome
• Cooley's anemia
• Copper deficiency familial benign
• Copper transport disease
• Coprastasophobia
• Coprophobia
• Coproporhyria
• Cor biloculare
• Cor triatriatum
• Cormier Rustin Munnich syndrome
• Corneal anesthesia deafness mental retardation
• Corneal cerebellar syndrome
• Corneal crystals myopathy neuropathy
• Corneal dystrophy epithelial short stature
• Corneal dystrophy ichthyosis microcephaly mental retardation
• Corneal dystrophy perceptive deafness
• Corneal dystrophy pigmentary anomaly malabsorption
• Corneal dystrophy
• Corneal endothelium dystrophy
• Cornelia de Lange syndrome
• Corneodermatoosseous syndrome
• Coronal synostosis syndactyly jejunal atresia
• Coronaro-cardiac fistula
• Coronary arteries congenital malformation
• Coronary artery aneurysm
• Corpus callosum agenesis double urinary collecting
• Corpus callosum agenesis neuronopathy
• Corpus callosum agenesis of blepharophimosis Robin type
• Corpus callosum agenesis of with chorioretinal abnormalities
• Corpus callosum agenesis polysyndactyly
• Corpus callosum agenesis
• Corpus callosum dysgenesis cleft spasm
• Corpus callosum dysgenesis hypopituitarism
• Corpus callosum dysgenesis X linked recessive
• Corrected transposition
• Corsello Opitz syndrome
• Cortada Koussef Matsumoto syndrome
• Cortes Lacassie syndrome
• Cortical blindness mental retardation polydactyly
• Cortical degeneration of the cerebellum parenchymatous
• Cortical hyperostosis syndactyly
• Corticobasal degeneration
• Costello syndrome
• Costocoracoid ligament congenitally short
• Cote Adamopoulos Pantelakis syndrome
• Cote Katsantoni syndrome
• Cousin Walbraum Cegarra syndrome
• Covesdem syndrome
• Cowchock Wapner Kurtz syndrome
• Cowden's disease
• Cowpox
• Coxoauricular syndrome
• Cramer Niederdellmann syndrome
• Cramp-fasciculations syndrome
• Crandall syndrome
• Crane-Heise syndrome
• Cranio osteoarthropathy
• Cranioacrofacial syndrome
• Craniodiaphyseal dysplasia
• Craniodigital syndrome mental retardation
• Cranioectodermal dysplasia
• Craniofacial and osseous defects mental retardation
• Craniofacial and skeletal defects
• Craniofacial deafness hand syndrome
• Craniofacial dysostosis arthrogryposis progeroid appearance
• Craniofacial dysostosis
• Craniofacial dysynostosis
• Craniofaciocardioskeletal syndrome
• Craniofaciocervical osteoglyphic dysplasia
• Craniofrontonasal dysplasia
• Craniofrontonasal syndrome Teebi type
• Craniometaphyseal dysplasia dominant type
• Craniometaphyseal dysplasia recessive type
• Craniomicromelic syndrome
• Craniostenosis cataract
• Craniostenosis with congenital heart disease mental retardation
• Craniostenosis
• Craniosynostosis alopecia brain defect
• Craniosynostosis arthrogryposis cleft palate
• Craniosynostosis autosomal dominant
• Craniosynostosis cleft lip palate arthrogryposis
• Craniosynostosis contractures cleft
• Craniosynostosis exostoses nevus epibulbar dermoid
• Craniosynostosis fibular aplasia
• Craniosynostosis Fontaine type
• Craniosynostosis Maroteaux Fonfria type
• Craniosynostosis mental retardation clefting syndrome
• Craniosynostosis mental retardation heart defects
• Craniosynostosis Philadelphia type
• Craniosynostosis radial aplasia syndrome
• Craniosynostosis synostoses hypertensive nephropathy
• Craniosynostosis Warman type
• Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
• Craniosynostosis
• Craniotelencephalic dysplasia
• Crawfurd syndrome
• Creatine deficiency
• Creeping disease
• CREST syndrome
• Cretinism athyreotic
• Cretinism
• Cri du chat syndrome
• Crigler Najjar syndrome type I
• Crisponi syndrome
• Criss cross syndrome
• Criswick-Schepens syndrome
• Crohn's disease of the esophagus
• Crohn's disease
• Crome syndrome
• Cronkhite-Canada disease
• Crossed polydactyly type 1
• Crossed polysyndactyly
• Crow-Fukase syndrome
• Cryoglobulinemia
• Cryophobia
• Cryptococcosis
• Cryptogenic organized pneumopathy
• Cryptomicrotia brachydactyly syndrome excess fingers
• Cryptomicrotia brachydactyly syndrome
• Cryptophthalmos-syndactyly syndrome
• Cryptorchidism arachnodactyly mental retardation
• Cryptosporidiosis
• Cryroglobulinemia
• Crystal deposit disease
• Crystallophobia
• Culler Jones syndrome
• Curly hair ankyloblepharon nail dysplasia syndrome
• Currarino triad
• Curry Hall syndrome
• Curth-Macklin type ichthyosis hystrix
• Curtis Rogers Stevenson syndrome
• Cushing syndrome, familial
• Cushing's symphalangism
• Cushing's syndrome
• Cutaneous anthrax
• Cutaneous larva migrans
• Cutaneous lupus erythematosus
• Cutaneous photosensitivity colitis lethal
• Cutaneous T-cell lymphoma
• Cutaneous vascularitis
• Cutis Gyrata syndrome of Beare and Stevenson
• Cutis gyratum acanthosis nigricans craniosynostosis
• Cutis laxa , recessive
• Cutis laxa corneal clouding mental retardation
• Cutis laxa osteoporosis
• Cutis laxa with joint laxity and retarded development
• Cutis laxa, dominant type
• Cutis laxa, recessive type 1
• Cutis laxa, recessive type 2
• Cutis laxa
• Cutis marmorata telangiectatica congenita
• Cutis verticis gyrata mental deficiency
• Cutis verticis gyrata thyroid aplasia mental retardation
• Cutis verticis gyrata
• Cutler Bass Romshe syndrome
• Cyclic neutropenia
• Cyclic vomiting syndrome
• Cyclosporosis
• Cypress facial neuromusculoskeletal syndrome
• Cystathionine beta synthetase deficiency
• Cystic adenomatoid malformation of lung
• Cystic angiomatosis of bone, diffuse
• Cystic fibrosis gastritis megaloblastic anemia
• Cystic fibrosis
• Cystic hamartoma of lung and kidney
• Cystic hygroma lethal cleft palate
• Cystic hygroma
• Cystic medial necrosis of aorta
• Cystin transport, protein defect of
• Cystinosis
• Cystinuria
• Cystinuria-lysinuria
• Cytochrome C oxidase deficiency
• Cytomegalic inclusion disease
• Cytomegalovirus
• Cytoplasmic body myopathy
• Czeizel Losonci syndrome
• Czeizel syndrome

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

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

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

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

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

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

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

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

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

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