Tüm Nadir Hastalıklar Nelerdir? A’dan Z’ye Nadir Hastalıkların İsimleri (Alfabetik)

Herkese selamlar değerli arkadaşlar. Bu yazımızda sizlere bilinen tüm nadir hastalıkların isimleri nelerdir A’dan Z’ye onu paylaşacağız.

Ülkemizde ve dünyada birçok nadir hastalığa sahip kişi bulunmaktadır. Öyle hastalıklar var ki 30 binde 1, 100 binde 1, milyonda 1 görülebiliyor. Bu hastalıkların çoğu doğuştan gelmektedir. Allah (c.c.) hasta olanlara acil şifalar nasip eylesin, amin. Şimdi nadir hastalıkların A’dan Z’ye doğru isimlerini paylaşalım. Normalde bu hastalıkların isimleri ingilizce fakat biz altlarına Türkçe çevirilerini de yazacağız.

A’dan Z’ye Nadir Hastalıkların İsimleri

A İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

AAE
Aagenaes syndrome
Aarskog-like syndrome
Aarskog-Ose-Pande syndrome
Aarskog-Scott syndrome
Aase-Smith II syndrome
Aase-Smith I syndrome
Aase-Smith syndrome
Aase syndrome
ABCB4 gene mutation-associated cholelithiasis
ABCD syndrome
Abdominal aortic aneurysm, familial form
Abetalipoproteinemia
Ablepharon macrostomia syndrome
Abnormal eye movements
Abruzzo-Erickson syndrome
ABSD
Absence of tibia
Absence of vagina
Absent patellae – scrotal hypoplasia – renal anomalies – facial dysmorphism – intellectual deficit
Absent testes, congenital
Acalvaria
Acanthamoeba keratitis
Acanthocytic disorder
Acanthocytosis
Acanthocytosis
Acanthosis nigricans
Acanthosis nigricans – Insulin resistance – muscle cramps – acral enlargement
Acatalasemia
Accelerated skeletal maturation – peculiar facies – failure to thrive
Accessory breasts
Accessory pancreas
Aceruloplasminemia
Acetyl-CoA alpha-glucosaminide-N-acetyl transferase deficiency
Achalasia – addisonianism – alacrima syndrome
Achalasia-alacrimia syndrome
Achalasia, esophageal, familial
Achalasia – microcephaly
Achalasia, primary
Achalasia, sporadic form
Acheiropodia
Acheiropody
Achondrogenesis
Achondrogenesis, type 1A
Achondrogenesis, type 1B
Achondrogenesis, type 2
Achondroplasia
Achondroplasia and FGFR3 anomaly
Achondroplasia and Swiss-type agammaglobulinemia
Achondroplasia – severe combined immunodeficiency
Achromatopsia
Achromatopsia, atypical, X linked
Achromatopsia incomplete, X-linked
Acid beta-glucosidase deficiency
Acid maltase deficiency
Acid phosphatase deficiency
Acitretin embryofetopathy
Ackee fruit, acute intoxication
Ackerman dermatitis syndrome
Ackerman syndrome
Aconitase deficiency
Acoustic neurinoma
Acoustic neuroma
ACPS III
ACPS with leg hypoplasia
Acquired alimentary behavior disorder of infancy
Acquired amyloid myopathy
Acquired amyloid peripheral neuropathy
Acquired angioedema
Acquired anterior horn cell disease
Acquired aplastic anemia
Acquired bradykinine-induced angioedema
Acquired cardiac rythm disease
Acquired chronic primary adrenal insufficiency
Acquired coagulation defect
Acquired embryofetopathy
Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease
Acquired hypoprothrombinemia
Acquired inflammatory myopathy and fasciitis
Acquired kinky hair syndrome
Acquired lipoatrophic diabates
Acquired lipodystrophy
Acquired motoneuron disease
Acquired myastenia
Acquired neuromuscular junction disease
Acquired neutropenia
Acquired non histamine-induced angioedema
Acquired nonimmune hemolytic disease
Acquired or genetic aplastic anemia
Acquired peripheral neuropathy
Acquired pituitary hormone deficiency
Acquired platelet function disease
Acquired platelet function disease associated with a liver disease
Acquired platelet function disease associated with antiplatelet antibodies
Acquired platelet function disease associated with dysproteinemia
Acquired platelet function disorder associated with acute leukemia and myelodysplastic syndrome
Acquired platelet function disorder associated with a myeloproliferative disease
Acquired premature ovarian failure
Acquired prothrombin deficiency
Acquired rippling muscle disease
Acquired rod-body myopathy
Acquired sensory ganglionopathy
Acquired sensory neuronopathy
Acquired skeletal muscle disease
Acrania
Acrocallosal syndrome, Schinzel type
Acrocapitofemoral dysplasia
Acrocardiofacial syndrome
Acrocephalopolysyndactyly, type 2 (ACPS 2)
Acrocephalopolysyndactyly type 3
Acrocephalopolysyndactyly, type 4 (ACPS 4)
Acrocephalosyndactyly
Acrocephalosyndactyly type 1
Acrocephalosyndactyly type 3
Acrocephalosyndactyly type 5
Acro-cephalo synostosis
Acrocraniofacial dysostosis
Acro-dento-osteo-dysplasia
Acrodermatitis continua suppurativa of Hallopeau
Acrodermatitis enteropathica, zinc deficiency type
Acro-Dermato-Ungual-Lacrimal-Tooth syndrome
Acrodysostosis
Acrodysostosis, postaxial
Acrodysostosis, preaxial
Acrodysplasia
Acrodysplasia scoliosis
Acrofacial dysostosis, autosomal recessive
Acrofacial dysostosis, Catania type
Acrofacial dysostosis, Genee-Wiedmann type
Acrofacial dysostosis, Kennedy-Teebi type
Acrofacial dysostosis, Nager type
Acrofacial dysostosis, palagonia type
Acrofacial dysostosis, postaxial
Acrofacial dysostosis, Rodriguez type
Acrofacial dysostosis, Weyers type
Acro-fronto-facio-nasal dysostosis
Acrokeratoderma
Acrokeratoelastoidosis of Costa
Acrokeratosis paraneoplastica
Acrokeratosis verruciformis of Hopf
Acromegaloid facial appearance syndrome
Acromegaloid facies – hypertrichosis
Acromegaly
Acromegaly – cutis verticis gyrata – corneal leukoma
Acromegaly, infantile and juvenile forms
Acromelanosis
Acromelic dysplasia
Acromesomelic dwarfism
Acromesomelic dysplasia
Acromesomelic dysplasia brahimi bacha type
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Acromesomelic dysplasia, Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acroosteolysis, neurogenic
Acro-pectoral syndrome
Acro-pectoro-renal field defect
Acropectorovertebral dysplasia
Acropigmentation of Dohi
Acrorenal defect – ectodermal dysplasia – diabetes
Acro-renal-mandibular syndrome
Acro-renal-ocular syndrome
Acrorenal syndrome
ACRP syndrome
ACS 1
ACS 3
ACS 5
ACTH deficiency, isolated
ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia
ACTH independent Cushing syndrome due to unilateral tumor
ACTH-independent macronodular adrenal hyperplasia
ACTH resistance
Actinic porokeratosis, disseminated superficial
Actinic porokeratosis, disseminated superficial, type I
Actinic porokeratosis, disseminated superficial, type II
Actin myopathy
Action myoclonus – renal failure syndrome
Acute and subacute inflammatory demyelinating polyneuropathy
Acute and subacute inflammatory demyelinating polyradiculoneuropathy
Acute cutaneous lupus erythematosus
Acute idiopathic demyelinating polyneuropathy
Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect
Acute inflammatory demyelinating polyradiculoneuropathy
Acute inflammatory polyneuropathy
Acute interstitial pneumonia
Acute leukemia of indeterminate lineage
Acute liver failure
Acute lung injury
Acute medullary lesions
Acute motor axonal neuropathy
Acute motor-sensory axonal Guillain-Barré syndrome
Acute motor-sensory axonal neuropathy
Acute myeloblastic leukemia, type 1
Acute myeloblastic leukemia, type 2
Acute myeloblastic leukemia, type 3
Acute myeloblastic leukemia, type 5
Acute myeloblastic leukemia, type 6
Acute myeloblastic leukemia, type 7
Acute myelodysplasia with myelofibrosis
Acute myelofibrosis
Acute myelogenous leukemia
Acute myeloid leukemia with recurrent genetic anomaly
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Acute myelosclerosis
Acute non-lymphoblastic leukemia
Acute panmyelosis with myelofibrosis
Acute peripheral arterial occlusion
Acute pure motor Guillain-Barré syndrome
Acute Respiratory Distress Syndrome, adult
Acute respiratory distress syndrome, Infant
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
Acute tubulointerstitial nephritis and uveitis syndrome
ACY1D
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA dehydrogenase, long chain, deficiency of
Acyl-CoA dehydrogenase, medium chain, deficiency of
Acyl-CoA dehydrogenase, very long chain, deficiency of
Acyl-CoA oxidase deficiency
Adactylia unilateral
Adair-Dighton syndrome
Adamantinoma
Adams-Oliver syndrome
ADANE
ADCA
ADCA1
ADCA2
ADCA3
ADCME
Addison-Biermer anemia
Addison disease
Addison’s disease, autoimmune type
Addison’s disease, classical type
Addison’s disease, primary
Adducted thumbs – arthrogryposis, Christian type
Adducted thumbs-arthrogryposis, Dundar type
ADEM
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma of the cervix uteri
Adenoid basal carcinoma of the cervix uteri
Adenoid cystic carcinoma of the cervix uteri
Adenoid cystic carcinoma of the corpus uteri
Adenosarcoma of the cervix uteri
Adenosarcoma of the corpus uteri
Adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Adenosine triphosphatase deficiency, anemia due to
Adenosylcobalamin deficiency
Adenovirus infection in immunocompromised patients
Adenylosuccinase deficiency
Adenylosuccinate lyase deficiency
Adhesive arachnoiditis
AD-HIES
Adiposis dolorosa
Adiposogenital dystrophy
ADL
ADLTE
ADNFLE
Adolescent benign focal crisis
Adolescent-onset epilepsy syndrome
ADPEAF
ADP platelet receptor P2Y12, deficiency of
Adrenal adenoma, familial
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, nonclassic form
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase deficiency
Adrenal hyperplasia, congenital, due to cytochrome P450 oxydoreductase (POR) deficiency
Adrenal hypoplasia, congenital, cytomegalic
Adrenal hypoplasia, congenital, of maternal cause
Adrenal hypoplasia, congenital, X-linked
Adrenal hypoplasia, familial
Adrenal incidentaloma
Adrenal insufficiency, acute
Adrenal tumor
Adrenocortical adenoma
Adrenocortical carcinoma
Adrenogenital syndrome
Adrenoleukodystrophy, neonatal
Adrenoleukodystrophy, X-linked
Adrenoleukodystrophy, X-linked, cerebral form
Adrenomyeloneuropathy
Adrenomyodystrophy
ADSL deficiency
Adult hemochromatosis
Adult intestinal botulism
Adult NCL
Adult neuronal ceroid lipofuscinosis
Adult-onset autosomal dominant leukodystrophy
Adult onset nemaline myopathy
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Adult polyglucosan body disease
ADULT syndrome
Advanced sleep-phase syndrome, familial
AEC syndrome
African iron overload
African tick typhus
African trypanosomiasis
Agammaglobulinemia
Agammaglobulinemia, alymphocytotic type
Agammaglobulinemia – microcephaly – craniosynostosis – severe dermatitis
Aganglionosis total intestinal
Agenesis and aplasia of uterine body
Agenesis of the corpus callosum – intellectual deficit – coloboma – micrognathia
Aggressive cutaneous B-cell lymphoma
Aggressive cutaneous T-cell lymphoma
Aggressive fibromatosis
Aglossia – adactylia
AGM2
Agnathia – holoprosencephaly – situs inversus
Agnogenic myeloid metaplasia
Agonadism – dextrocardia – diaphragmatic hernia
AHDS
Ahn-Lerman-Sagie syndrome
aHUS
Aicardi-Goutieres syndrome
Aicardi syndrome
AIDP
AIDS wasting syndrome
AIMAH
Akaba-Hayasaka syndrome
Akesson syndrome
Alacrima, congenital, isolated
Alagille syndrome
Åland Island eye disease
Alanine-glyoxylate aminotransferase deficiency
Alar cartilages hypoplasia – coloboma – telecanthus
Al Awadi-Farag-Teebi syndrome
Al-Awadi-Raas-Rothschild syndrome
Albers-Schonberg osteopetrosis
Albinism – black lock – cell migration disorder of the neurocytes of the gut – sensorineural deafness
Albinism-deafness syndrome
Albinism ocular – late onset sensorineural deafness
Albinism partial – immunodeficiency
Albright hereditary osteodystophy (AHO) – PPHP
Albright héréditary osteodystophy (AHO) – PPHP
Albright hereditary osteodystrophy
Albright hereditary osteodystrophy 3
Albright hereditary osteodystrophy (AHO) – PHP Ia
Albright hereditary osteodystrophy-like syndrome
Alcock syndrome
Alcohol antenatal infection
Alcohol-responsive dystonia
Aldolase A deficiency
Aldosterone synthase deficiency
Aldosterone synthase deficiency
Aldred syndrome
Alexander disease
Al Frayh-Facharzt-Haque syndrome
Al Gazali-Aziz-Salem syndrome
Al-Gazali-Dattani syndrome
Al Gazali-Donnai-Muller syndrome
al Gazali-Lytle syndrome
Al Gazali-Nair syndrome
Algodystrophy
Alkaptonuria
Allagille-Watson syndrome
Allain-Babin-Demarquez syndrome
Allan-Herndon-Dudley syndrome
Allergic bronchopulmonary aspergillosis
Allgrove syndrome
Alloimmune hemolytic disease of the fetus and newborn
Alobar holoprosencephaly
Alopecia
Alopecia – anosmia – deafness – hypogonadism
Alopecia antibody deficiency
Alopecia – congenita keratosis palmoplantaris
Alopecia – contractures – dwarfism – intellectual deficit
Alopecia – deafness – hypogonadism
Alopecia-epilepsy-oligophrenia syndrome, Moynahan type
Alopecia- epilepsy – pyorrhea – mental subnormality
Alopecia – hypogonadism – extrapyramidal disorder
Alopecia – intellectual deficit – hypogonadism
Alopecia-intellectual deficit syndrome
Alopecia – progressive neurological defect – endocrinopathy
Alopecia totalis
Alopecia universalis
Alpers-Huttenlocher syndrome
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Alpha-1-antichymotrypsin deficiency
Alpha-1 antitrypsin and alpha-1-antichymotrypsin deficiencies
Alpha-1 antitrypsin deficiency
Alpha-cristallinopathy
Alpha-dystroglycanopathy
Alpha-galactosidase A deficiency
Alpha-granule disease
Alpha heavy-chain disease
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-L-fucosidase deficiency
Alpha-L-iduronidase deficiency
Alpha-mannosidosis
Alpha methyl acetoacetyl-CoA Thiolase deficiency
Alpha-methyl-acyl-CoA racemase deficiency
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency, adult-onset
Alpha-N-acetylgalactosaminidase deficiency, type 1
Alpha-N-acetylgalactosaminidase deficiency, type 2
Alpha-N-acetylgalactosaminidase deficiency, type 3
Alpha-sarcoglycanopathy
Alpha-thalassemia
Alpha thalassemia-intellectual deficit syndrome
Alpha thalassemia – intellectual deficit, X-linked
Alport deafness-nephropathy
Alport syndrome
Alport syndrome – intellectual deficit – midface hypoplasia – elliptocytosis
Alport syndrome with leukocyte inclusions and macrothrombocytopenia
Alport syndrome with macrothrombocytopenia
ALS
ALSG
Alström syndrome
Alternating hemiplegia
Alternating hemiplegia in childhood
Alternating hemiplegia of childhood
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Alveolar echinococcosis
Alveolar rhabdomyosarcoma
Alveolar soft-part sarcoma
Alves-dos Santos-Castelo syndrome
Alzheimer disease, type 1
Alzheimer disease, type 2
Alzheimer disease, type 3
AMAN
Amaurosis congenita of Leber
Amaurosis – hypertrichosis
Ambiguous genitalia – normal Mullerian development
Ambras syndrome
Amegakaryocytic thrombocytopenia, congenital
Amelia, autosomal recessive
Amelo-cerebro-hypohidrotic syndrome
Amelogenesis imperfecta
Amelogenesis imperfecta, hypocalcified type
Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism
Amelogenesis imperfecta, hypomaturation type
Amelogenesis imperfecta, hypoplastic type
Amelogenesis imperfecta – nephrocalcinosis
Amelogenesis imperfecta, type 2
Amelogenesis imperfecta, type 3
Amelogenesis imperfecta, type 4
Amelogenesis imperfecta, type I
Amelo-onycho-hypohidrotic syndrome
American trypanosomiasis
Amino acid or protein metabolism disease
Amino acid transport disease
Aminoaciduria, Hartnup type
Aminoaciduria, hyperdibasic, type 1
Aminopterin embryofetopathy
Amish brittle hair syndrome
Amish infantile epilepsy syndrome
Amish nemaline myopathy
AMME complex
AMME syndrome
Ammonia detoxification-urea cycle defect
Amniotic bands
Amoebiasis due to Entamoeba histolytica
Amoebiasis due to free-living amoebae
AMP deaminase deficiency
Ampola syndrome
AMSAN
Amylo-1,6-glucosidase deficiency
Amyloid lichen
Amyloid nephropathy, familial
Amyloidosis
Amyloidosis AA
Amyloidosis AL
Amyloidosis beta2-microglobulinic
Amyloidosis, hereditary, Finnish type
Amyloidosis immunoglobulinic
Amyloidosis, inflammatory
Amyloidosis, Ostertag type
Amyloidosis, primary
Amyloidosis, reactive
Amyloidosis, secondary
Amyloid precursor protein (APP) amyloid angiopathy, hereditary
Amylopectinosis
Amyoplasia congenita
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis, hemiplegic type
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam
Amyotrophic lateral sclerosis with frontotemporal dementia
Amyotrophy – fat tissue anomaly
Anaphylactoid purpura
Anaplastic large cell lymphoma
Anauxetic dysplasia
Ancylostomiasis
Andermann syndrome
Andersen disease
Andersen syndrome
Anderson disease
Anderson-Fabry disease
Androgen insensitivity, complete
Androgen insensitivity, partial
Androgen insensitivity syndrome
Androgen resistance syndrome
Anemia congenital hypoplastic, Blackfan-Diamond type
Anemia due to pyrimidine 5′ nucleotidase deficiency
Anemia due to red cell membrane anomaly
Anemia, sideroblastic, X-linked – ataxia
Anencephaly
ANE syndrome
Aneurysmal subarachnoid hemorrhage
Aneurysm of sinus of Valsalva
Angelman syndrome
Angel-shaped phalango-epiphyseal dysplasia
Angiitis, cutaneous leukocytoclastic
Angiitis of the central nervous system, isolated
Angiitis, primary, of the central nervous system
Angiodysgenetic necrotizing myelopathy
Angioedema
Angioedema, ACE inhibitor-related
Angioedema, acquired, type I
Angioedema, acquired, type II
Angioedema estrogen-dependent, inherited
Angioedema, hereditary
Angioedema, hereditary, type III
Angioedema, nonhistaminergic, idiopathic
Angioedema oestrogen-associated, inherited
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia
Angiohypertrophic myelomalacia, subacute
Angioimmunoblastic T-cell lymphoma
Angiokeratoma, diffuse
Angiokeratoma – intellectual deficit – coarse face
Angioma neurocutaneous, hereditary
Angioma serpiginosum, familial
Angioneurotic edema
Angioneurotic edema, ACE inhibitor-related
Angioneurotic edema, acquired
Angioneurotic edema, acquired, type I
Angioneurotic edema, acquired, type II
Angioneurotic edema, familial form
Angioneurotic edema, hereditary
Angioneurotic edema, hereditary, type I
Angioneurotic edema, hereditary, type II
Angioneurotic edema, hereditary, type III
Angioneurotic edema, nonhistaminergic, idiopathic
Angioneurotic edema oestrogen-associated, inherited
Angioneurotic edema oestrogen-dependent, inherited
Angioneurotic oedema estrogen-associated, inherited
Angioneurotic oedema estrogen-dependent, inherited
Angio-osteohypertrophic syndrome
Angio-osteohypotrophic syndrome
Angiostrongyliasis
Anguillulosis
Aniridia
Aniridia – absent patella
Aniridia – cerebellar ataxia – mental deficiency
Aniridia-intellectual deficit syndrome
Aniridia – ptosis – intellectual deficit – obesity, familial form
Aniridia – renal agenesis – psychomotor retardation
Anisakiasis
Ankyloblepharon – ectodermal defects – cleft lip palate
Ankyloblepharon filiforme adnatum – cleft palate
Ankyloblepharon filiforme adnatum, isolated
Ankyloblepharon filiforme – imperforate anus
Ankylosing spondylarthritis
Ankylosing vertebral hyperostosis with tylosis
Ankylosis of teeth
Ankylostomiasis
Annuloaortic ectasia
Anodontia
Anomalous dysplasia of dentin
Anomaly of bile acid synthesis
Anomaly of puberty or/and menstrual cycle
Anomaly of puberty or/and menstrual cycle of genetic origin
Anomaly of the secretory and excretory apparatus of the lacrymal system
Anonychia
Anonychia, congenital
Anonychia congenita totalis
Anonychia microcephaly
Anonychia – onychodystrophy
Anonychia – onychodystrophy with hypoplasia or absence of distal phalanges
Anonychia with flexural pigmentation
Anophtalmia, clinical
Anophtalmia – microphthalmia
Anophtalmia, primitive
Anophthalmia – esophageal-genital syndrome
Anophthalmia – heart and pulmonary anomalies – intellectual deficit
Anophthalmia – hypothalamo-pituitary insufficiency
Anophthalmia – megalocornea – cardiopathy – skeletal anomalies
Anophthalmia/microphthalmia – esophageal atresia
Anophthalmia – Microphthalmia, isolated
Anophthalmia plus syndrome
Anophthalmia – pulmonary hypoplasia
Anophthalmos with limb anomalies
Anorchidia, bilateral
Anorectal malformation
Anorexia nervosa
Anosmia, isolated, congenital
ANOTHER syndrome
Anotia
Antenatal Epstein-Barr virus infection
Antenatal multiminicore disease with arthrogryposis multiplex congenital
Anterior corneal dystrophy
Anterior horn cell disease
Anterior megalophthalmia congenital
Anthracycline extravasations
Antigen-peptide-transporter deficiency
Anti-glomerular basement membrane antibody-mediated disease
Anti-HLA hyperimmunization
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis
Antinolo-Nieto-Borrego syndrome
Antiphospholipid syndrome
Antisynthetase syndrome
Antley-Bixler-like syndrome – ambiguous genitalia – disordered steroidogenesis
Antley-Bixler syndrome
Antley-Bixler syndrome, type 1
Antley-Bixler syndrome, type 2
Anyane-Yeboa syndrome
AOA1
Aorta coarctation
Aorta-pulmonary artery fistula
Aortic aneurysm syndrome, due to TGFbêta receptors anomalies
Aortic aneurysm syndrome, Loeys-Dietz type
Aortic arch anomaly – peculiar facies – intellectual deficit
Aortic arch defects
Aortic arch interruption
Aortic coarctation, atypical
Aortic dilatation- joint hypermobility- arterial tortuosity
Aortic malformation
Aortic valve atresia
Aortic valve dysplasia
Aortic valve insufficiency, congenital
Aortic valve stenosis, congenital
Aorto-left ventricular tunnel
Aorto-right ventricular tunnel
Aorto-ventricular tunnel
AOS
APECED syndrome
Apert syndrome
Apertura pyriformis stenosis, isolated
Apertura pyriformis with holoprosencephaly
Aphakia, primary, congenital
Aphalangy – hemivertebrae – urogenital-intestinal dysgenesis
Aphalangy – syndactyly – microcephaly
Aphasia, primary progressive
Aphasia, primary progressive, fluent type
Aphasia, primary progressive, non-fluent type
Apical ballooning syndrome
Aplasia cutis, autosomal recessive
Aplasia cutis congenita – epibulbar dermoids
Aplasia cutis congenita – intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Aplasia cutis congenita verticis (ACCV)
Aplasia cutis – myopia
Aplasia/hypoplasia of limbs and pelvis
Aplasia of lacrimal and salivary glands
Aplasia of tibia with split-hand/split-foot deformity
Apnea of infancy (AOI)
Apnea of prematurity
Apolipoprotein AI amyloidosis
Apolipoprotein A-I deficiency
Apolipoproteine C-II deficiency
Apparent mineralocorticoid excess
Apple peel syndrome
Aprosencephaly cerebellar dysgenesis
APSI
APUDoma
Arachnodactyly – intellectual deficit – dysmorphism
Arachnodactyly – ossification abnormal – intellectual deficit
Arachnoid cyst
Arbovirosis
Arbovirus fever
ARCA
ARCA1
Architectural focal cortical dysplasia
AR-CMT1
AR-CMT2
AR-CMT2B1
AR-CMT2B2
AR-CMT2C
ARCMT2K
ARC syndrome
ARDS, adult
ARDS, infant
AREDYLD syndrome
Areflexic dystasia, hereditary, Roussy-Levy type
Aregenerative anemia
Arena syndrome
Areolar atrophy of the macula
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininemia
Argininosuccinase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinicaciduria
Argyria
Argyrophilic grain disease
Arhinia – choanal atresia – microphthalmia
Arkless-Graham syndrome
Armfield syndrome
Arndt-Gottron disease
Arnold-Chiari malformation
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-aminoacid decarboxylase deficiency
Arrhinia
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia
ARSACS
ARSB deficency
Arterial calcification, generalized, of infancy
Arterial dissection – lentiginosis
Arterial duct anomaly
Arterial duct, atypical
Arterial duct, premature closure of the
Arterial occlusive disease, progressive – hypertension – heart defects – bone fragility – brachysyndactyly
Arterial tortuosity syndrome
Arteriohepatic dysplasia
Arteriovenous fistula
Arteriovenous malformation
Arteriovenous malformation, frontonasal
Arteriovenous malformation, maxillary
Arteriovenous malformation of the limb
Arteriovenous malformation of the limbs
Arteriovenous malformation of the trunk
Arterivenous malformation, mandibular
Arthritis, enthesitis-related
Arthritis, juvenile chronic
Arthritis, juvenile psoriatic
Arthritis, juvenile rheumatoid
Arthritis, oligoarticular juvenile
Arthritis, systemic-onset, juvenile idiopathic
Arthritis urethritica
Arthrogryposis, congenital – myopathic seizures
Arthrogryposis distal type 1
Arthrogryposis, distal, type 2A
Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 3
Arthrogryposis, distal, type 4
Arthrogryposis, distal, type 5
Arthrogryposis, distal, type 6
Arthrogryposis, distal, type 7
Arthrogryposis, distal, type 8
Arthrogryposis, distal, type 9
Arthrogryposis distal type I
Arthrogryposis distal type II
Arthrogryposis, distal, type IIB
Arthrogryposis, distal, type IID
Arthrogryposis due to muscular dystrophy
Arthrogryposis – ectodermal dysplasia – other anomalies
Arthrogryposis – epileptic seizures – migrational brain disorder
Arthrogryposis – hyperkeratosis, lethal form
Arthrogryposis, lethal – anterior horn cell disease
Arthrogryposis-like hand anomaly – sensorineural deafness
Arthrogryposis like syndrome
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita – lissencephaly
Arthrogryposis multiplex congenita – pulmonary hypoplasia
Arthrogryposis multiplex congenita – whistling face
Arthrogryposis – ophthalmoplegia – retinopathy
Arthrogryposis – renal dysfunction – cholestasis
Arthrogryposis – severe scoliosis
Arthrogryposis – spondylohypoplasia – popliteal pterygium
Arthrogryposis syndrome
Arthroophthalmopathy, hereditary progressive
Arthropathy-camptodactyly syndrome
Arthropathy progressive pseudorheumatoid of childhood
Arts syndrome
ARVC
ARVD
ARX-related epileptic encephalopathy
Arylsulfatase A deficiency
Arylsulfatase B deficiency
Asbestos intoxication
Asbestosis
Ascending aorta, aneurysm or dilation of
Ascending aorta anomaly
Ascher syndrome
ASD, ostium primum type
Aseptic abscesses syndrome
Aseptic necrosis of patella
Aseptic necrosis of phalangeal epiphyses
Aseptic necrosis of the capital femoral epiphysis
Aseptic necrosis of the capital humerus
Aseptic necrosis of the lunate bone
Aseptic necrosis of the tarsal bone
Aseptic necrosis of the tibial tubercle
Aseptic osteitis
Aseptic systemic abscesses
Asherman’s syndrome
Aspartoacylase deficiency
Aspartylglucosaminidase deficiency
Aspartylglucosaminuria
ASPED
Asperger syndrome
Aspergillosis
Asphyxiating thoracic dystrophy of the newborn
ASPWSCR duplication
Astley-Kendall dysplasia
Astrocytoma
Asymmetric crying facies
Ataxia – apraxia – intellectual deficit, X-linked
Ataxia, autosomal recessive, Beauce type
Ataxia, cerebellar, autosomal dominant, type 1
Ataxia, cerebellar, autosomal dominant, type 2
Ataxia, cerebellar, autosomal dominant, type 3
Ataxia, cerebellar, autosomal recessive – blindness – deafness
Ataxia, cerebellar, autosomal recessive – saccadic intrusion
Ataxia, cerebellar, Cayman type
Ataxia, cerebellar – ectodermal dysplasia
Ataxia, cerebellar – hypogonadism
Ataxia, cerebellar, X-linked
Ataxia – deafness – optic atrophy, lethal
Ataxia-deafness-retardation syndrome
Ataxia-deafness syndrome, X-linked
Ataxia – delayed dentition – hypomyelination
Ataxia-dementia syndrome, X-linked
Ataxia – diabetes – goiter – gonadal insufficiency
Ataxia due to coenzyme Q(10) deficiency, autosomal recessive
Ataxia due to ubiquinone deficiency, autosomal recessive
Ataxia, episodic, type 1
Ataxia, episodic, type 3
Ataxia, episodic, type 4
Ataxia, episodic – vertigo – tinnitus – myokymia
Ataxia, familial paroxysmal
Ataxia, Friedreich-like, with selective vitamin E deficiency
Ataxia – hypogonadism – choroidal dystrophy
Ataxia – leukodystrophy – tubulopathy, due to cytochrome c oxidase deficiency
Ataxia, mitochondrial recessive, syndrome
Ataxia – oculomotor apraxia, type 1
Ataxia – oculomotor apraxia, type 2 (AOA2)
Ataxia – pancytopenia
Ataxia – photosensitivity – short stature
Ataxia, spastic, Charlevoix-Saguenay type
Ataxia, spastic – corneal dystrophy
Ataxia – spastic miosis, congenital
Ataxia, spastic – ocular anomalies
Ataxia, spinocerebellar, autosomal dominant, type 7
Ataxia, spinocerebellar, type 1
Ataxia, spinocerebellar, type 10
Ataxia, spinocerebellar, type 11
Ataxia, spinocerebellar, type 12
Ataxia, spinocerebellar, type 13
Ataxia, spinocerebellar, type 14
Ataxia, spinocerebellar, type 15
Ataxia, spinocerebellar, type 16
Ataxia, spinocerebellar, type 17
Ataxia, spinocerebellar, type 18
Ataxia, spinocerebellar, type 19
Ataxia, spinocerebellar, type 2
Ataxia, spinocerebellar type 20
Ataxia, spinocerebellar, type 21
Ataxia, spinocerebellar type 22
Ataxia, spinocerebellar type 23
Ataxia, spinocerebellar type 25
Ataxia, spinocerebellar type 26
Ataxia, spinocerebellar, type 27
Ataxia, spinocerebellar type 28
Ataxia, spinocerebellar, type 3
Ataxia, spinocerebellar, type 4
Ataxia, spinocerebellar, type 5
Ataxia, spinocerebellar, type 6
Ataxia, spinocerebellar, type 8
Ataxia, spinocerebellar, with axonal neuropathy, type 1
Ataxia, spinocerebellar, X-linked, type 3
Ataxia, spinocerebellar, X-linked, type 4
Ataxia tapetoretinal degeneration
Ataxia-telangiectasia
Ataxia-telangiectasia, variant 1 (AT V1)
Ataxia – tonic upward deviation of eyes
Ataxia with dementia
Ataxo-opso-myoclonus syndrome
Atelencephaly
Atelosteogenesis I
Atelosteogenesis, type II
Atelosteogenesis, type III
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis- deafness – diabetes – epilepsy – nephropathy
Athyreosis
Atkin-Flaitz syndrome
ATM/TM
ATP synthetase deficiency
ATR16
Atransferrinemia
Atresia of small intestine
Atresia of urethra
Atrial cardiomyopathy with heart block
Atrial defect and interauricular communication
Atrial fibrillation, familial
Atrial myxoma, familial
Atrial septal defect (ASD)
Atrial septal defect – atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Atrial septum aneurysm
Atrial tachyarrhythmia with short PR interval
Atrichia – mental and growth delay
Atrichia with papular lesions
Atrichie papulaire
Atriodigital dysplasia
Atrio-ventricular and ventriculo-arterial double discordia, isolated
Atrioventricular block, congenital
Atrioventricular canal, complete
Atrioventricular canal, complete – fallot tetralogy
Atrioventricular canal, complete – left heart obstruction
Atrioventricular canal, complete – ventricle hypoplasia
Atrioventricular canal defect
Atrioventricular canal, partial
Atrioventricular defect – blepharophimosis -radial defects
Atrioventricular discordance
Atrioventricular valve anomaly
Atrophia aerata
Atrophoderma vermiculata
ATRUS syndrome
ATS-MR
Attenuated familial adenomatous polyposis
ATTR cardiomyopathy
Atypical autism
Atypical coarctation of aorta
Atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome with antibody anti-factor H
Atypical hemolytic uremic syndrome with B factor anomaly
Atypical hemolytic uremic syndrome with C3 anomaly
Atypical hemolytic uremic syndrome with H factor anomaly
Atypical hemolytic uremic syndrome with I factor anomaly
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Atypical hemolytic uremic with MCP or CD46 anomaly
Atypical mole
Atypical Rett syndrome
Atypical RTT
Atypical Werner syndrome
Auditory neuropathy with peripheral sensory neuropathy, X-linked, type 1
Auditory ossicle malformation, congenital, isolated
Aughton-Hufnagle syndrome
Aural atresia – multiple congenital anomalies – intellectual deficit
Auralcephalosyndactyly
Auricle anomaly
Auricles, juxtaposition of the
Auricular abnormalities – cleft lip with or without cleft palate – ocular abnormalities
Auriculo-condylar syndrome
Auriculoocular anomalies – cleft lip
Auriculoosteodysplasia
Aurocephalosyndactyly
Ausems-Wittebol Post-Hennekam syndrome
Autism
Autism – facial port-wine stain
Autoimmune enteropathy
Autoimmune enteropathy, type 1
Autoimmune enteropathy, type 2
Autoimmune enteropathy, type 3
Autoimmune hemolytic anemia
Autoimmune hemolytic anemia, drug-induced
Autoimmune hemolytic anemia, mixed-type
Autoimmune hemolytic anemia, warm type
Autoimmune hepatitis
Autoimmune hypoparathyroidism – chronic candidiasis – Addison’s disease
Autoimmune lymphoproliferative syndrome
Autoimmune myasthenia gravis
Autoimmune necrotizing myopathy
Autoimmune neurological channelopathy
Autoimmune neurological channelopathy due to a acetylcholine receptor subunits defect
Autoimmune neurological channelopathy due to a potassium channel defect
Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect
Autoimmune or collagen disease with cardiomyopathy
Autoimmune pancreatitis
Autoimmune polyendocrinopathy – candidiasis – ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy, type 1
Autoimmune polyendocrinopathy, type 2
Autoimmune thyroid disease and/or type 1 diabetes – Addison’s disease
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Autoinflammatory syndrome
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia
Autosomal dominant Charcot-Marie-Tooth disease, type 2
Autosomal dominant Charcot-Marie-Tooth disease, type 2A1
Autosomal dominant Charcot-Marie-Tooth disease, type 2A2
Autosomal dominant Charcot-Marie-Tooth disease, type 2B
Autosomal dominant Charcot-Marie-Tooth disease, type 2C
Autosomal dominant Charcot-Marie-Tooth disease, type 2D
Autosomal dominant Charcot-Marie-Tooth disease, type 2E
Autosomal dominant Charcot-Marie-Tooth disease, type 2F
Autosomal dominant Charcot-Marie-Tooth disease, type 2G
Autosomal dominant Charcot-Marie-Tooth disease, type 2I
Autosomal dominant Charcot-Marie-Tooth disease, type 2J
Autosomal dominant Charcot-Marie-Tooth disease, type 2K
Autosomal dominant Charcot-Marie-Tooth disease, type 2L
Autosomal dominant circumscribed palmoplantar keratoderma with an associated disease
Autosomal dominant circumscribed palmoplantar keratoderma without an associated disease
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant diffuse and circumscribed palmoplantar keratoderma with an associated disease
Autosomal dominant diffuse palmoplantar keratoderma with an associated disease
Autosomal dominant distal myopathy
Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
Autosomal dominant familial spastic paraplegia, type 1
Autosomal dominant familial spastic paraplegia, type 2
Autosomal dominant familial spastic paraplegia, type 3
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant hereditary distal motor neuropathy
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal dominant HIES
Autosomal dominant hyper IgE syndrome
Autosomal dominant hyperimmunoglobulin E syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease, type D
Autosomal dominant isolated neurosensory deafness, type DFNA
Autosomal dominant isolated neurosensory hearing loss, type DFNA
Autosomal dominant isolated sensorineural deafness, type DFNA
Autosomal dominant isolated sensorineural hearing loss, type DFNA
Autosomal dominant limb-girdle muscular dystrophy, type 1A
Autosomal dominant limb-girdle muscular dystrophy, type 1B
Autosomal dominant limb-girdle muscular dystrophy, type 1C
Autosomal dominant limb-girdle muscular dystrophy, type 1D
Autosomal dominant limb-girdle muscular dystrophy, type 1E
Autosomal dominant limb-girdle muscular dystrophy, type 1F
Autosomal dominant limb-girdle muscular dystrophy, type 1G
Autosomal dominant multiple pterygium syndrome
Autosomal dominant myoglobinuria
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant nonsyndromic neurosensory deafness, type DFNA
Autosomal dominant nonsyndromic neurosensory hearing loss, type DFNA
Autosomal dominant nonsyndromic sensorineural deafness, type DFNA
Autosomal dominant nonsyndromic sensorineural hearing loss, type DFNA
Autosomal dominant omodysplasia
Autosomal dominant optic atrophy, non-OPA1 type
Autosomal dominant optic atrophy, OPA1 type
Autosomal dominant optic neuropathy
Autosomal dominant osteosclerosis type Stanescu
Autosomal dominant palmoplantar keratoderma with an associated disease
Autosomal dominant palmoplantar keratoderma without an associated disease
Autosomal dominant proximal spinal muscular atrophy
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant severe congenital neutropenia
Autosomal dominant spastic paraplegia, type 10
Autosomal dominant spastic paraplegia, type 12
Autosomal dominant spastic paraplegia, type 13
Autosomal dominant spastic paraplegia, type 17
Autosomal dominant spastic paraplegia, type 19
Autosomal dominant spastic paraplegia, type 29
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia, type 31
Autosomal dominant spastic paraplegia, type 37
Autosomal dominant spastic paraplegia, type 38
Autosomal dominant spastic paraplegia, type 4
Autosomal dominant spastic paraplegia, type 42
Autosomal dominant spastic paraplegia, type 6
Autosomal dominant spastic paraplegia, type 8
Autosomal dominant spastic paraplegia, type 9
Autosomal dominant spinocerebellar ataxia due to a channelopathy
Autosomal dominant spinocerebellar ataxia due to a point mutation
Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine
Autosomal recessive agammaglobulinemia
Autosomal recessive axonal Charcot-Marie-Tooth disease, type 2
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive circumscribed palmoplantar keratoderma
Autosomal recessive congenital cerebellar ataxia
Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive diffuse palmoplantar keratoderma
Autosomal recessive distal myopathy
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Autosomal recessive hereditary distal motor neuropathy
Autosomal recessive hereditary sensory and autonomic neuropathy
Autosomal recessive HIES
Autosomal recessive hyper IgE syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease, type A
Autosomal recessive intermediate osteopetrosis
Autosomal recessive isolated neurosensory deafness, type DFNB
Autosomal recessive isolated optic neuropathy
Autosomal recessive isolated sensorineural deafness, type DFNB
Autosomal recessive limb-girdle muscular dystrophy, type 2B
Autosomal recessive limb-girdle muscular dystrophy, type 2G
Autosomal recessive limb-girdle muscular dystrophy, type 2H
Autosomal recessive limb-girdle muscular dystrophy, type 2I
Autosomal recessive limb-girdle muscular dystrophy, type 2J
Autosomal recessive limb-girdle muscular dystrophy, type 2K
Autosomal recessive limb-girdle muscular dystrophy, type 2L
Autosomal recessive limb-girdle muscular dystrophy, type 2M
Autosomal recessive limb-girdle muscular dystrophy, type 2N
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive malignant osteopetrosis
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive multiple pterygium syndrome
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic neurosensory deafness, type DFNB
Autosomal recessive nonsyndromic sensorineural deafness, type DFNB
Autosomal recessive omodysplasia
Autosomal recessive optic neuropathy
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis, type 7
Autosomal recessive palmoplantar keratoderma
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive severe combined immunodeficiency T-B+NK-
Autosomal recessive severe combined immunodeficiency T-B+NK+
Autosomal recessive spastic paraplegia – disc herniation
Autosomal recessive spastic paraplegia, type 11
Autosomal recessive spastic paraplegia, type 14
Autosomal recessive spastic paraplegia, type 15
Autosomal recessive spastic paraplegia, type 18
Autosomal recessive spastic paraplegia, type 20
Autosomal recessive spastic paraplegia, type 21
Autosomal recessive spastic paraplegia, type 23
Autosomal recessive spastic paraplegia, type 24
Autosomal recessive spastic paraplegia, type 25
Autosomal recessive spastic paraplegia, type 26
Autosomal recessive spastic paraplegia, type 27
Autosomal recessive spastic paraplegia, type 28
Autosomal recessive spastic paraplegia, type 30
Autosomal recessive spastic paraplegia, type 32
Autosomal recessive spastic paraplegia, type 35
Autosomal recessive spastic paraplegia, type 39
Autosomal recessive spastic paraplegia, type 5A
Autosomal recessive spastic paraplegia, type 7
Autosomal recessive spondylocostal dysostosis
Autosomal recessive syndromic cerebellar ataxia
Autosomal recessive syndromic optic neuropathy
Autosome anomaly
Avascular necrosis of femoral head, familial form
AVED
Axenfeld-Rieger anomaly – hydrocephaly – skeletal abnormalities
Axenfeld-Rieger syndrome
Axenfeld’s anomaly
Axial mesodermal dysplasia spectrum
Axial osteosclerosis
Axial spondylometaphyseal dysplasia
Axonal Charcot-Marie-Tooth disease with acrodystrophy
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammapathy
Ayazi syndrome
Azoospermia due to maturation arrest
Azoospermia due to meiosis defect
Azoospermia – sinopulmonary infections

A İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

AAE
Aagenaes sendromu
Aarskog benzeri sendrom
Aarskog-Ose-Pande sendromu
Aarskog-Scott sendromu
Aase-Smith II sendromu
Aase-Smith I sendromu
Aase-Smith sendromu
Aase sendromu
ABCB4 gen mutasyonu ile ilişkili safra taşı
ABCD sendromu
Ailesel formda abdominal aort anevrizması
Abetalipoproteinemi
Ablefaron makrostomi sendromu
Anormal göz hareketleri
Abruzzo-Erickson sendromu
ABSD
Tibia yokluğu
Vajina yokluğu
Diz kapağı yokluğu – skrotal hipoplazi – böbrek anomalileri – yüz dismorfizmi – zihinsel yetersizlik
Konjenital testis yokluğu
Akalvaria
Acanthamoeba keratit
Akantositik bozukluk
Akantositoz
Akantositoz
Akantositoz nigrikans
Akantositoz nigrikans – İnsülin direnci – kas krampları – akral büyüme
Akatalazemi
Hızlanmış iskelet olgunlaşması – tuhaf yüz görünümü – gelişme geriliği
Aksesuar memeler
Aksesuar pankreas
Aseruloplazminemi
Asetil-CoA alfa-glukozaminid-N-asetil transferaz eksikliği
Akalazi – Addison hastalığı – alakrima sendromu
Akalazi-alakrimi sendromu
Ailesel özofageal akalazi
Akalazi – mikrosefali
Primer akalazi
Sporadik akalazi
Aşeiropodia
Aşeiropodi
Akondrogenez
Akondrogenez, tip 1A
Akondrogenez, tip 1B
Akondrogenez, tip 2
Akondroplazi
Akondroplazi ve FGFR3 anomalisi
Akondroplazi ve İsviçre tipi Agammaglobulinemi
Akondroplazi – şiddetli kombine immün yetmezlik
Akromatopsi
Atipik Akromatopsi, X’e bağlı
Eksik Akromatopsi, X’e bağlı
Asit beta-glukozidaz eksikliği
Asit maltaz eksikliği
Asit fosfataz eksikliği
Asitretin embriyofetopatisi
Ackee meyvesi, akut zehirlenme
Ackerman dermatit sendromu
Ackerman sendromu
Akonitaz eksikliği
Akustik nöroma
Akustik nöroma
ACPS III
Bacak hipoplazisi ile ACPS
Bebeklik döneminin edinilmiş beslenme davranış bozukluğu
Edinilmiş amiloid miyopati
Edinilmiş amiloid periferik nöropati
Edinilmiş anjiyoödem
Edinilmiş ön boynuz hücre hastalığı
Edinilmiş aplastik anemi
Edinilmiş bradikinin kaynaklı anjiyoödem
Edinilmiş kalp ritmi hastalığı
Edinilmiş kronik primer adrenal Yetersizlik
Edinilmiş pıhtılaşma bozukluğu
Edinilmiş embriyofetopati
Malign bir hastalıkla ilişkili edinilmiş hemofagositik lenfohistiyositoz
Edinilmiş hipoprotrombinemi
Edinilmiş inflamatuar miyopati ve fasiit
Edinilmiş kıvırcık saç sendromu
Edinilmiş lipoatrofik diyabetes
Edinilmiş lipodistrofi
Edinilmiş motor nöron hastalığı
Edinilmiş miyasteni
Edinilmiş nöromüsküler kavşak hastalığı
Edinilmiş nötropeni
Edinilmiş histamin kaynaklı olmayan anjiyoödem
Edinilmiş immün olmayan hemolitik hastalık
Edinilmiş veya genetik aplastik anemi
Edinilmiş periferik nöropati
Edinilmiş hipofiz hormonu eksikliği
Edinilmiş trombosit fonksiyon hastalığı
Karaciğer hastalığıyla ilişkili edinilmiş trombosit fonksiyon hastalığı
Antiplatelet antikorlarla ilişkili edinilmiş trombosit fonksiyon hastalığı
Edinilmiş trombosit fonksiyon hastalığı ile ilişkili Disproteinemi
Akut lösemi ve miyelodisplastik sendromla ilişkili edinilmiş trombosit fonksiyon bozukluğu
Miyeloproliferatif hastalıkla ilişkili edinilmiş trombosit fonksiyon bozukluğu
Edinilmiş erken yumurtalık yetmezliği
Edinilmiş protrombin eksikliği
Edinilmiş dalgalı kas hastalığı
Edinilmiş çubuk gövdeli miyopati
Edinilmiş duyusal ganglionopati
Edinilmiş duyusal nöronopati
Edinilmiş iskelet kası hastalığı
Akrani
Akrokallozal sendrom, Schinzel tipi
Akrokapitofemoral displazi
Akrokardiyofasiyal sendrom
Akrosefalopolizindaktili, tip 2 (ACPS 2)
Akrosefalopolizindaktili tip 3
Akrosefalopolizindaktili, tip 4 (ACPS 4)
Akrosefalozindaktili
Akrosefalozindaktili tip 1
Akrosefalozindaktili tipi 3
Akrosefalosindaktili tip 5
Akro-sefalosinostoz
Akrokraniyofasiyal disostoz
Akro-dento-osteo-displazi
Hallopeau’nun sürekli akrodermatit süpürativası
Çinko eksikliği tipi akrodermatit enteropatika
Akro-Dermato-Ungual-Lakrimal-Tooth sendromu
Akrodizostoz
Akrodizostoz, postaksiyel
Akrodizostoz, preaksiyel
Akrodisplazi
Akrodisplazi skolyozu
Akrofasiyal disostoz, otozomal resesif
Akrofasiyal disostoz, Catania tipi
Akrofasiyal disostoz, Genee-Wiedmann tipi
Akrofasiyal disostoz, Kennedy-Teebi tipi
Akrofasiyal disostoz, Nager tipi
Akrofasiyal disostoz, Palagonia tipi
Akrofasiyal disostoz, postaksiyel
Akrofasiyal Rodriguez tipi disostoz
Weyers tipi akrofasiyal disostoz
Akro-fronto-fasiyo-nazal disostoz
Akrokeratoderma
Costa akrokeratoelastoidozu
Paraneoplastik akrokeratozis
Hopf verruciform akrokeratozis
Akromegaloid yüz görünümü sendromu
Akromegaloid yüz – hipertrichoz
Akromegali
Akromegali – cutis verticis gyrata – korneal lökoma
Akromegali, infantil ve juvenil formları
Akromelanoz
Akromelik displazi
Akromesomelik cücelik
Akromesomelik displazi
Brahimi bacha tipi akromesomelik displazi
Grebe tipi akromesomelik displazi
Hunter-Thomson tipi akromesomelik displazi
Maroteaux tipi akromesomelik displazi
Akromikrik displazi
Akroosteoliz dominant tip
Akroosteoliz, nörojenik
Akro-pektoral sendrom
Akro-pektoro-renal alan defekti
Akropektorovertebral displazi
Dohi Akropigmentasyonu
Akrorenal defekt – ektodermal displazi – diyabet
Akro-renal-mandibular sendrom
Akro-renal-oküler sendrom
Akrorenal sendrom
ACRP sendromu
ACS 1
ACS 3
ACS 5
İzole ACTH eksikliği
İki taraflı adrenokortikal hiperplaziye bağlı ACTH bağımsız Cushing sendromu
Tek taraflı tümöre bağlı ACTH bağımsız Cushing sendromu
ACTH bağımsız makronodüler adrenal hiperplazi
ACTH direnci
Yaygın yüzeysel aktinik porokeratoz
Yaygın yüzeysel aktinik porokeratoz, tip I
Yaygın yüzeysel aktinik porokeratoz, tip II
Aktin miyopatisi
Aksiyon miyoklonusu – böbrek yetmezliği sendromu
Akut ve subakut inflamatuar demiyelinizan polinöropati
Akut ve subakut inflamatuar demiyelinizan poliradikülonöropati
Akut kutanöz lupus eritematozus
Akut idiyopatik demiyelinizan polinöropati
Mitokondriyal DNA kodlu protein sentezi kusuruna bağlı akut infantil karaciğer yetmezliği
mtDNA kodlu protein sentezi kusuruna bağlı akut infantil karaciğer yetmezliği
Akut inflamatuar demiyelinizan poliradikülonöropati
Akut inflamatuar polinöropati
Akut interstisyel pnömoni
Belirsiz soylu akut lösemi
Akut karaciğer yetmezliği
Akut akciğer hasarı
Akut medüller lezyonlar
Akut motor aksonal nöropati
Akut motor-duyusal aksonal Guillain-Barré sendromu
Akut motor-duyusal aksonal nöropati
Akut miyeloblastik lösemi, tip 1
Akut miyeloblastik lösemi, tip 2
Akut miyeloblastik lösemi, tip 3
Akut miyeloblastik lösemi, tip 5
Akut miyeloblastik lösemi, tip 6
Akut miyeloblastik lösemi, tip 7
Miyelofibrozlu akut miyelodisplazi
Akut miyelofibroz
Akut miyelojenöz lösemi
Tekrarlayan genetik anomalili akut miyeloid lösemi
t(15;17)(q22;q12);(PML/RARalpha) ve varyantları olan akut miyeloid lösemi
Akut miyeloskleroz
Akut non-lenfoblastik lösemi
Miyelofibrozlu akut panmiyeloz
Akut periferik arter tıkanıklığı
Akut saf motor Guillain-Barré sendromu
Akut Solunum Yetmezliği Sendromu, yetişkin
Akut solunum yetmezliği sendromu, bebek
Akut akustik travma veya ani sağırlık veya cerrahi kaynaklı akustik travmaya bağlı akut sensörinöral işitme kaybı
Akut tübülointerstisyel nefrit ve üveit sendromu
ACY1D
Açil-CoA dehidrogenaz 9 eksiklik
Açil-CoA dehidrogenaz, uzun zincirli, eksikliği
Açil-CoA dehidrogenaz, orta zincirli, eksikliği
Açil-CoA dehidrogenaz, çok uzun zincirli, eksikliği
Açil-CoA oksidaz eksikliği
Tek taraflı adaktili
Adair-Dighton sendromu
Adamantinoma
Adams-Oliver sendromu
ADANE
ADCA
ADCA1
ADCA2
ADCA3
ADCME
Addison-Biermer anemisi
Addison hastalığı
Addison hastalığı, otoimmün tip
Addison hastalığı, klasik tip
Addison hastalığı, primer
Başparmakların içe doğru bükülmesi – artrogripozis, Christian tipi
Başparmakların içe doğru bükülmesi – artrogripozis, Dundar tipi
ADEM
Adenin fosforiboziltransferaz eksikliği
Rahim ağzı adenokarsinomu
Rahim ağzı adenoid bazal karsinomu rahim
Rahim ağzı adenoid kistik karsinomu
Rahim gövdesi adenoid kistik karsinomu
Rahim ağzı adenosarkomu
Rahim gövdesi adenosarkomu
Adenozin deaminaz eksikliği
Adenozin monofosfat deaminaz eksikliği
Adenozin trifosfataz eksikliğine bağlı anemi
Adenozilkobalamin eksikliği
İmmün yetmezliği olan hastalarda adenovirüs enfeksiyonu
Adenilossüksinaz eksikliği
Adenilossüksinat liyaz eksikliği
Dengeli araknoidit
AD-HIES
Adipozis dolorosa
Adiposogenital distrofi
ADL
ADLTE
ADNFLE
Ergenlik döneminde iyi huylu fokal kriz
Ergenlik döneminde başlayan epilepsi sendromu
ADPEAF
ADP trombosit reseptörü P2Y12 eksikliği
Ailesel adrenal adenom
Konjenital adrenal hiperplaziye bağlı 11-beta-hidroksilaz eksikliğine bağlı
17-alfa-hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi
21-hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi, klasik form
21-hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi, nonklasik form
3-beta-hidroksisteroid dehidrogenaz eksikliğine bağlı konjenital adrenal hiperplazi
Sitokrom P450 oksidoredüktaz (POR) eksikliğine bağlı konjenital adrenal hiperplazi
Sitomegalik konjenital adrenal hipoplazi
Anne kaynaklı konjenital adrenal hipoplazi
X’e bağlı konjenital adrenal hipoplazi
Ailesel adrenal hipoplazi
Adrenal insidentaloma
Akut adrenal yetmezlik
Adrenal tümör
Adrenokortikal adenom
Adrenokortikal karsinom
Adrenogenital sendrom
Yenidoğan adrenolökodistrofisi
X’e bağlı adrenolökodistrofisi
X’e bağlı serebral adrenolökodistrofisi
Adrenomiyelonöropati
Adrenomiyodistrofisi
ADSL eksikliği
Yetişkin hemokromatozu
Yetişkin bağırsak botulizmi
Yetişkin NCL
Yetişkin nöronal seroid lipofusinoz
Yetişkin başlangıçlı otozomal dominant lökodistrofisi
Yetişkin başlangıçlı nemalin miyopatisi
Yetişkin başlangıçlı proksimal spinal musküler atrofi, otozomal dominant
Yetişkin poliglukozan cisim hastalığı
YETİŞKİN sendromu
İleri uyku fazı sendromu, ailesel
AEC sendromu
Afrika demir yüklenmesi
Afrika kene tifüsü
Afrika tripanosomiyazı
Agammaglobulinemi
Alamfositozsuz tip agammaglobulinemi
Agammaglobulinemi – mikrosefali

B İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

Babesiosis
Bacterial myositis
Bacterial toxic-shock syndrome
BAFME
Bahemuka-Brown syndrome
Baird syndrome
Bakrania-Ragge syndrome
Balantidiasis
Balantidiosis
Balikova-Vermeesch syndrome
Ballard syndrome
Baller-Gerold syndrome
Ballooning cardiomyopathy
Bamboo hair syndrome
Bamforth-Lazarus syndrome
Bamforth syndrome
Bangstad syndrome
Banki syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bantu siderosis
Baraitser-Brett-Piesowicz syndrome
Baraitser-Burn syndrome
Baraitser-Reardon syndrome
Baraitser-Winter syndrome
Barakat syndrome
Barber-Say syndrome
Bardet-Biedl syndrome
Bare lymphocyte syndrome type I
Bare lymphocyte syndrome type II
Barnes syndrome
Barnicoat-Baraitser syndrome
Barraquer-Simons syndrome
Barrett esophagus
Barth syndrome
Bartonellosis due to Bartonella bacilliformis infection
Bartonellosis due to Bartonella henselae infection
Bartonellosis due to Bartonella quintana infection
Bartsocas-Papas syndrome
Bartter syndrome
Bartter syndrome, adult form
Bartter syndrome, antenatal form
Bartter syndrome, ”classical” form
Bartter syndrome, type 3
Bartter syndrome type 4
Basal cell nevus syndrome
Basal epidermolysis bullosa simplex
Basal ganglia disease, adult onset
Basal ganglia disease, biotin-responsive
Basan syndrome
Basaran-Yilmaz syndrome
Basel-Vanagaite-Sirota syndrome
Basement membrane disease
Basilar impression, primary
Bassen-Kornzweig disease
Bassoe syndrome
Battaglia-Neri syndrome
Batten disease
Baughman syndrome
Bazex-Dupre-Christol syndrome
Bazex syndrome
Bazopoulou-Kyrkanidou syndrome
BBB syndrome, X-linked
BCD
B-cell lymphoma with common secondary cutaneous involvement
B-cell neoplasm
B-cell non-Hodgkin lymphoma
B-cell proliferation of uncertain malignant
Bd syndrome
Beals-Hecht syndrome
Beals syndrome
Bean syndrome
Bechterew syndrome
Becker dystrophinopathy
Becker nevus syndrome
Beckwith-Wiedemann syndrome
BECRS, autosomal dominant
Bedouin spastic ataxia syndrome
BEEC
Beemer-Ertbruggen syndrome
Behcet disease
Behcet disease, pediatric onset
Behrens-Baumann-Vogel syndrome
Behr syndrome
Bellini-Chiumello-Rimoldi syndrome
Bell’s palsy
Benallegue-Lacete syndrome
Ben Ari-Shuper-Mimouni syndrome
Bencze syndrome
Benign autosomal dominant myopathy
Benign childhood occipital epilepsy, Gastaut type
Benign childhood occipital epilepsy, Panayiotopoulos type
Benign chronic familial pemphigus of Hailey-Hailey
Benign ductal tumor of breast
Benign exophthalmos syndrome
Benign familial epilepsy of childhood with rolandic spikes
Benign familial hypobetalipoproteinemia
Benign familial infantile convulsions
Benign familial infantile seizures
Benign familial neonatal convulsions
Benign familial neonatal-infantile seizures
Benign familial neonatal seizures
Benign familial nocturnal alternating hemiplegia in childhood
Benign familial nocturnal alternating hemiplegia of childhood
Benign focal amyotrophy
Benign idiopathic neonatal seizures
Benign infantile focal epilepsy with midline spikes and wave during sleep
Benign infantile seizures associated to mild gastroenteritis
Benign intrahepatic cholestasis type 1
Benign intrahepatic cholestasis type 2
Benign multicystic peritoneal mesothelioma
Benign myoclonic epilepsy of infancy
Benign non-familial infantile seizures
Benign paroxysmal torticollis of infancy
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in infancy
Benign partial infantile seizures
Benign recurrent intrahepatic cholestasis
Benign tumor of fallopian tube
Benign tumor of palpebral epidermis
Bennion-Patterson syndrome
Benson’s syndrome
Bent bone dysplasia
Beradinelli-Seip syndrome
Berant syndrome
Berdon syndrome
Berger disease
Berk-Tabatznik syndrome
Berlin breakage syndrome
Bernard-Soulier syndrome
Berylliosis
Beryllium granulomatosis
Beryllium pneumonosis
BES
Besnier-Boeck-Schaumann disease
Bessel-Hagen disease
Best disease
Bestrophinopathy, autosomal recessive
Beta-alanine synthase deficiency
Beta-galactosidase deficiency
Beta-galactosidase deficiency
Beta-glucuronidase deficiency
Beta-mannosidase deficiency
Beta-mannosidosis
Beta-sarcoglycanopathy
Beta-thalassemia
Beta-ureidopropionase deficiency
Bethlem myopathy
Beukes familial hip dysplasia (BFHD)
BFNIS
Bicervical bicornuate uterus
Bicervical bicornuate uterus and blind hemi-vagina
Bicervical bicornuate uterus one-eyed hemi-vagina
Bicervical bicornuate uterus with patent cervix and vagina
Bickel-Fanconi glycogenosis
Bickers-Adams syndrome
Bickerstaff’s brainstem encephalitis
Bicornuate uterus
Bicuspid aortic valve
Bidirectional tachycardia
BIDS syndrome
Biemond syndrome
Biermer disease
Bietti’s crystalline dystrophy
Bifid nose
Bifid nose with or without anorectal and renal anomalies
Bifid uvula
Bifunctional enzyme deficiency
Bilateral frontal polymicrogyria
Bilateral generalised polymicrogyria
Bilateral microtia – deafness – cleft palate
Bilateral parasagittal parieto-occipital polymicrogyria
Bile acid synthesis defect, congenital, type 1
Bile acid synthesis defect, congenital, type 2
Bile acid synthesis defect, congenital, type 3
Bile acid synthesis defect, congenital, type 4
Bile acid synthesis defect with cholestasis and malabsorption
Bile duct cancer
Bile duct paucity, syndromic form
Bile ducts paucity, nonsyndromic form
Biliary atresia
Biliary tract malformation – renal failure
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Billard-Toutain-Maheut syndrome
Binder syndrome
Bindewald-Ulmer-Muller syndrome
Binswanger disease
Biogenic amine metabolism disorder
Biotin metabolism disorder
Bipolar disorders
Bird headed-dwarfism, Montreal type
Birt-Hogg-Dube syndrome
Bitemporal aplasia cutis congenital
Bixler-Christian-Gorlin syndrome
Björnstad syndrome
Blackfan-Diamond anemia
Blackfan-Diamond disease
Bladder Cancer
Bladder exstrophy
Bladder exstrophy- epispadias-Cloacal extrophy complex
Blaichman syndrome
Blake’s pouch cyst
Blastic NK cell lymphoma
Blastogenesis defect
Blau syndrome
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to glycoprotein VI deficiency or integrin alpha2-beta1 deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Bleeding diathesis due to thromboxane synthesis deficiency
Blelpharophimosis – telecanthus – microstomia
Blepharochalasia – double lip
Blepharo-cheilo-odontic syndrome
Blepharo-facio-skeletal syndrome
Blepharonasofacial malformation syndrome
Blepharophimosis – epicanthus inversus – ptosis
Blepharophimosis – ptosis – esotropia – syndactyly – short stature
Blepharophimosis – radioulnar synostosis
Blepharophimosis, types 1 and 2
Blepharoptosis – cleft palate – ectrodactyly – dental anomalies
Blepharoptosis – myopia – ectopia lentis
Blepharospasm
Blepharospasm – oromandibular dystonia
Blethen-Wenick-Hawkins syndrome
Blighia sapida, acute intoxication
Blindness – scoliosis – arachnodactyly
Bloch-Sulzberger syndrome
Bloom syndrome
Blount disease
Blue colourblindness
Blue cone monochromatism
Blue Diaper syndrome
Blue rubber bleb nevus
BNAR syndrome
Bockenheimer syndrome
Boder syndrome
BOD syndrome
Body cavity-based lymphoma
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Boeck sarcoid
BOFS
Bohring-Opitz syndrome
Bohring syndrome
Boichis disease
Bone disease with decreased bone density
Bone disease with defective bone mineralisation
Bone disease with disorganised development of skeletal components
Bone disease with increased bone density and metaphyseal or diaphyseal involvement
Bone disease with increased bone density without modification of the bone shape
Bone dysplasia, Azouz type
Bone dysplasia, lethal, Holmgren type
Bone dysplasia – medullary fibrosarcoma
Bone filaminopathy
Bone fragility – craniosynostosis – proptosis – hydrocephalus
Bone marrow failure
Bone tumor
Bonneau-Beaumont syndrome
Bonnemann-Meinecke-Reich syndrome
Bonnemann-Meinecke syndrome
Bonnet-Dechaume-Blanc syndrome
Book syndrome
Boomerang dysplasia
BOOP
Booth-Haworth-Dilling syndrome
Borderline ovarian epithelial tumor
Borjeson-Forssman-Lehmann syndrome
Bork syndrome
Bornholm eye disease
BOR syndrome
Bosley-Salih-Alorainy syndrome
Bosma-Henkin-Christiansen syndrome
BOS syndrome
Bothnia retinal dystrophy
Bothriocephalosis
Botulism
Boucher-Neuhauser syndrome
Bourneville syndrome
Boutonneuse fever
Bouwes-Bavinck syndrome
Bowen-Conradi syndrome
Bowen syndrome
Bowen syndrome, Hutterite type
Bowing, congenital, with short bones
Bowing of long bones, congenital
Boyadjiev-Jabs syndrome
Boylan-Dew syndrome
BPD
Braak’s disease
Brachman-de Lange syndrome
Brachycephalofrontonasal dysplasia
Brachycephaly – deafness – cataract – intellectual deficit
Brachydactylous dwarfism, Mseleni type
Brachydactyly
Brachydactyly A6
Brachydactyly – anonychia
Brachydactyly – arterial hypertension
Brachydactyly-clinodactyly
Brachydactyly – elbow wrist dysplasia
Brachydactyly, Farabee type
Brachydactyly group
Brachydactyly-intellectual deficit
Brachydactyly – long thumb
Brachydactyly – mesomelia – intellectual deficit – heart defects
Brachydactyly, Mohr-Wriedt type
Brachydactyly – nystagmus – cerebellar ataxia
Brachydactyly – preaxial hallux varus
Brachydactyly – scoliosis – carpal fusion
Brachydactyly, Smorgasbord type
Brachydactyly-symphalangism syndrome
Brachydactyly-syndactyly, Zhao type
Brachydactyly Temtamy type
Brachydactyly – tibial hypoplasia
Brachydactyly, type A1
Brachydactyly, type A2
Brachydactyly, type A3
Brachydactyly, type A4
Brachydactyly, type A5
Brachydactyly, type A7
Brachydactyly, type B
Brachydactyly, type B2
Brachydactyly, type C
Brachydactyly, type D
Brachydactyly, type E
Brachydactyly, types B et E combined
Brachydactyly with or without extraskeletal manifestations
Brachymesophalangy II and V
Brachymesophalangy V
Brachymorphism – onychodysplasia – dysphalangism
Brachyolmia
Brachyolmia
Brachyolmia, Maroteaux type
Brachyolmia type 1, Hobaek type
Brachyolmia type 1, Toledo type
Brachyolmia type 2
Brachyolmia type 3
Brachytelephalangy – dysmorphism – Kallmann syndrome
Bradbury-Eggleston syndrome
Braddock-Carey syndrome
Braddock-Jones-Superneau syndrome
Braddock syndrome
Bradykinine-induced angioedema
Bradyopsia
Brain calcification, Rajab type
Brain cavernous angioma
Brain demyelination due to methionine adenosyltransferase deficiency
Brain dysgenesis due to glutamine synthetase deficiency, congenital
Brain inflammatory disease
Brain injury, neonatal
Brain lymphoma, primary
Brain malformation – congenital heart disease – postaxial polydactyly
Brain sclerosis, diffuse familial
Brain small vessel disease with hemorrage
Brainstem dysfunction, neonatal
Brain stem tumor
Brain tumor
Branched-chain amino acid metabolism disorder
Branched chain ketoaciduria
Branchial arches syndrome
Branchial arch or oral-acral syndrome
Branchial arch syndrome, X-linked
Branchial cleft anomaly, first
Branchial cleft anomaly, fourth
Branchial cleft anomaly, second
Branchial cleft anomaly, third
Branchial dysplasia – intellectual deficiency – inguinal hernia
Branchiogenic deafness syndrome
Branchio-oculo-facial syndrome
Branchio-otic syndrome
Branchiootorenal syndrome
Branchio-skeleto-genital syndrome
Brauer syndrome
Braun-Bayer syndrome
BRESEK syndrome
BRESHECK syndrome
BRIC
Bridging (innominate) vein, absence of
Brill-Zinsser disease
Brittle bone disease
Brittle bone syndrome, lethal type
Brittle cornea syndrome
Brittle hair – mental deficiency
Brittle hair syndrome, Sabinas type
Broad-betalipoproteinemia
Brody myopathy
Bronchial carcinoid tumor
Bronchial endocrine tumor
Bronchial neuroendocrine tumor
Bronchiectasis, idiopathic
Bronchiectasis – oligospermia
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans with obstructive pulmonary disease
Bronchobiliary fistula, congenital
Bronchogenic cyst
Bronchopneumopathy, chronic, due to TAP deficiency
Bronchopulmonary dysplasia
Bronspiegel-Zelnick syndrome
Brooke-Spiegler syndrome
Brown-Vialetto-van Laere syndrome
Brucellosis
Bruck syndrome
Brugada syndrome
Brunner-Winter syndrome
Bruton type agammaglobulinemia
BS
BSCL
BTHS
BTK-deficiency
Buckley syndrome
Budd-Chiari syndrome
Buerger’s disease
Bulbar conjunctival dermoid or conjunctival dermolipoma
Bulbospinal amyotrophy, X-linked
Bulbospinal muscular atrophy
Bulbospinal muscular atrophy of adult
Bulbospinal muscular atrophy of children
Bull-Nixon syndrome
Bullous dystrophy, macular type
Bullous impetigo
Bullous lichen planus
Bullous pemphigoid
Buntinx-Lormans-Martin syndrome
Burkitt lymphoma
Burn-McKeown syndrome
Buschke-Fischer-Brauer syndrome
Buschke-Ollendorff syndrome
Butterfly-shaped pigment dystrophy
Buttiens-Fryns syndrome
Butyrylcholinesterase deficiency

B İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Babesiyoz
Bakteriyel miyozit
Bakteriyel toksik şok sendromu
BAFME
Bahemuka-Brown sendromu
Baird sendromu
Bakrania-Ragge sendromu
Balantidiyazis
Balantidiyozis
Balikova-Vermeesch sendromu
Ballard sendromu
Baller-Gerold sendromu
Balonlaşma kardiyomiyopatisi
Bambu saç sendromu
Bamforth-Lazarus sendromu
Bamforth sendromu
Bangstad sendromu
Banki sendromu
Bannayan-Riley-Ruvalcaba sendromu
Bantu siderozisi
Baraitser-Brett-Piesowicz sendromu
Baraitser-Burn sendromu
Baraitser-Reardon sendromu
Baraitser-Winter sendromu
Barakat sendromu
Barber-Say sendromu
Bardet-Biedl sendromu
Tip I çıplak lenfosit sendromu
Tip II çıplak lenfosit sendromu
Barnes sendromu
Barnicoat-Baraitser sendrom
Barraquer-Simons sendromu
Barrett özofagusu
Barth sendromu
Bartonella bacilliformis enfeksiyonuna bağlı bartonelloz
Bartonella henselae enfeksiyonuna bağlı bartonelloz
Bartonella quintana enfeksiyonuna bağlı bartonelloz
Bartsocas-Papas sendromu
Bartter sendromu
Bartter sendromu, yetişkin formu
Bartter sendromu, doğum öncesi formu
Bartter sendromu, ”klasik” formu
Bartter sendromu, tip 3
Bartter sendromu tip 4
Bazal hücre nevüs sendromu
Bazal epidermoliz büllosa simpleks
Bazal ganglion hastalığı, yetişkin başlangıçlı
Bazal ganglion hastalığı, biyotin duyarlı
Basan sendromu
Basaran-Yılmaz sendromu
Basel-Vanagaite-Sirota sendromu
Bazal membran hastalığı
Primer bazal baskı
Bassen-Kornzweig hastalığı
Bassoe sendromu
Battaglia-Neri sendromu
Batten hastalığı
Baughman sendrom
Bazex-Dupre-Christol sendromu
Bazex sendromu
Bazopoulou-Kyrkanidou sendromu
BBB sendromu, X’e bağlı
BCD
Yaygın sekonder kutanöz tutulumlu B hücreli lenfoma
B hücreli neoplazm
B hücreli non-Hodgkin lenfoma
Belirsiz maligniteli B hücre proliferasyonu
Bd sendromu
Beals-Hecht sendromu
Beals sendromu
Bean sendromu
Bechterew sendromu
Becker distrofinopatisi
Becker nevüs sendromu
Beckwith-Wiedemann sendromu
BECRS, otozomal dominant
Bedouin spastik ataksi sendromu
BEEC
Beemer-Ertbruggen sendromu
Behçet hastalığı
Behçet hastalığı, pediatrik başlangıçlı
Behrens-Baumann-Vogel sendromu
Behr sendromu
Bellini-Chiumello-Rimoldi sendromu
Bell felci
Benallegue-Lacete sendromu
Ben Ari-Shuper-Mimouni sendromu
Bencze sendrom
İyi huylu otozomal dominant miyopati
İyi huylu çocukluk çağı oksipital epilepsisi, Gastaut tipi
İyi huylu çocukluk çağı oksipital epilepsisi, Panayiotopoulos tipi
İyi huylu kronik ailesel Hailey-Hailey pemfigusu
İyi huylu meme duktal tümörü
İyi huylu ekzoftalmi sendromu
İyi huylu ailesel çocukluk çağı rolandik dikenli epilepsisi
İyi huylu ailesel hipobetalipoproteinemi
İyi huylu ailesel infantil konvülsiyonlar
İyi huylu ailesel infantil nöbetler
İyi huylu ailesel neonatal konvülsiyonlar
İyi huylu ailesel neonatal-infantil nöbetler
İyi huylu ailesel neonatal nöbetler
İyi huylu ailesel çocukluk çağı nokturnal alternan hemiplejisi
İyi huylu ailesel çocukluk çağı nokturnal alternan hemiplejisi
İyi huylu fokal amiyotrofi
İyi huylu idiyopatik neonatal nöbetler
İyi huylu infantil fokal epilepsi, uyku sırasında orta hat dikenleri ve dalgaları ile
İyi huylu Hafif gastroenterit ile ilişkili infantil nöbetler
Benign intrahepatik kolestaz tip 1
Benign intrahepatik kolestaz tip 2
Benign multikistik periton mezotelyoması
Benign miyoklonik infantil epilepsi
Benign ailesel olmayan infantil nöbetler
Benign paroksismal tortikolis infantil
Benign parsiyel epilepsi ve kompleks parsiyel nöbetler
Benign parsiyel epilepsi ve infantil dönemde sekonder jeneralize nöbetler
Benign parsiyel infantil nöbetler
Benign tekrarlayan intrahepatik kolestaz
Benign fallop tüpü tümörü
Benign göz kapağı epidermisi tümörü
Bennion-Patterson sendromu
Benson sendromu
Eğilmiş kemik displazisi
Beradinelli-Seip sendromu
Berant sendromu
Berdon sendromu
Berger hastalığı
Berk-Tabatznik sendromu
Berlin kırılma sendromu
Bernard-Soulier sendrom
Berilyoz
Berilyum granülomatozu
Berilyum pnömonisi
BES
Besnier-Boeck-Schaumann hastalığı
Bessel-Hagen hastalığı
Best hastalığı
Bestrofinopati, otozomal resesif
Beta-alanin sentaz eksikliği
Beta-galaktosidaz eksikliği
Beta-galaktosidaz eksikliği
Beta-glukuronidaz eksikliği
Beta-mannosidaz eksikliği
Beta-mannosidoz
Beta-sarkoglikanopati
Beta-talasemi
Beta-üreidopropiyonaz eksikliği
Bethlem miyopatisi
Beukes ailesel kalça displazisi (BFHD)
BFNIS
Biservikal bikornuat uterus
Biservikal bikornuat uterus ve kör hemi-vajina
Biservikal bikornuat uterus ve tek gözlü hemi-vajina
Biservikal bikornuat uterus ve açık serviks vajina
Bickel-Fanconi glikojenozu
Bickers-Adams sendromu
Bickerstaff beyin sapı ensefaliti
Bikornuat uterus
Biküspit aort kapağı
Çift yönlü taşikardi
BIDS sendromu
Biemond sendromu
Biermer hastalığı
Bietti kristal distrofisi
Çift burun
Anorektal ve renal anomalilerle birlikte veya olmadan çift burun
Çift uvula
Çift fonksiyonlu enzim eksikliği
Bilateral frontal polimikrogiri
Bilateral generalize polimikrogiri
Bilateral mikrotia – sağırlık – yarık damak
Bilateral parasagittal parieto-oksipital polimikrogiri
Safra asidi sentez defekti, konjenital, tip 1
Safra asidi sentez defekti, konjenital genital, tip 2
Safra asidi sentez bozukluğu, konjenital, tip 3
Safra asidi sentez bozukluğu, konjenital, tip 4
Kolestaz ve malabsorpsiyonlu safra asidi sentez bozukluğu
Safra kanalı kanseri
Safra kanalı yetersizliği, sendromik form
Safra kanalı yetersizliği, sendromik olmayan form
Safra atrezisi
Safra yolu malformasyonu – böbrek yetmezliği
Bilirubin üridindifosfat glukuronosiltransferaz eksikliği
Billard-Toutain-Maheut sendromu
Binder sendromu
Bindewald-Ulmer-Muller sendromu
Binswanger hastalığı
Biyojenik amin metabolizma bozukluğu
Biyotin metabolizma bozukluğu
Bipolar bozukluklar
Montreal tipi kuş başlı cücelik
Birt-Hogg-Dube sendromu
Bitemporal aplazi kutis konjenital
Bixler-Christian-Gorlin sendromu
Björnstad sendromu
Blackfan-Diamond Anemi
Blackfan-Diamond hastalığı
Mesane Kanseri
Mesane ekstrofisi
Mesane ekstrofisi – epispadias – Klokal ekstrofi kompleksi
Blaichman sendromu
Blake kesesi kisti
Blastik NK hücreli lenfoma
Blastogenez defekti
Blau sendromu
Glikoprotein VI eksikliğine bağlı kanama diyatezi
Glikoprotein VI eksikliği veya integrin alfa2-beta1 eksikliğine bağlı kanama diyatezi
İntegrin alfa2-beta1 eksikliğine bağlı kanama diyatezi
Tromboksan sentez eksikliğine bağlı kanama diyatezi
Blefarofimozis – telekantus – mikrostomi
Blefarokalazi – çift dudak
Blefaro-şeilo-odontik sendrom
Blefaro-fasiyo-iskelet sendromu
Blefaronasofasiyal malformasyon sendromu
Blefarofimozis – epikantus inversus – ptozis
Blefarofimozis – Göz kapağı düşüklüğü (ptozis) – içe şaşılık (esotropi) – parmak arası yapışma (sindaktili) – kısa boy
Blefarofimozis – radyoulnar sinostozis
Blefarofimozis, tip 1 ve 2
Blefaroptozis – yarık damak – ektrodaktili – diş anomalileri
Blefaroptozis – miyopi – ektopi lentis
Blefarospazm
Blefarospazm – oromandibular distoni
Blethen-Wenick-Hawkins sendromu
Blighia sapida, akut zehirlenme
Körlük – skolyoz – araknodaktili
Bloch-Sulzberger sendromu
Bloom sendromu
Blount hastalığı
Mavi renk körlüğü
Mavi koni monokromizmi
Mavi bez sendromu
Mavi kauçuk kabarcık nevüs
BNAR sendromu
Bockenheimer sendromu
Boder sendromu
BOD sendromu
Vücut boşluğuna bağlı lenfoma
Vitamin K’ya bağlı pıhtılaşma faktörüne bağlı vücut derisi hipermobilitesi Eksiklik
Boeck sarkoidi
BOFS
Bohring-Opitz sendromu
Bohring sendromu
Boichis hastalığı
Kemik yoğunluğunun azaldığı kemik hastalığı
Kemik mineralizasyonunda kusur bulunan kemik hastalığı
İskelet bileşenlerinin düzensiz gelişimiyle seyreden kemik hastalığı
Kemik yoğunluğunun arttığı ve metafiz veya diyafiz tutulumu olan kemik hastalığı
Kemik şeklinin değişmediği kemik yoğunluğunun arttığı kemik hastalığı
Kemik displazisi, Azouz tipi
Kemik displazisi, ölümcül, Holmgren tipi
Kemik displazisi – medüller fibrosarkom
Kemik filaminopatisi
Kemik kırılganlığı – kraniosinostoz – proptoz – hidrosefali
Kemik iliği yetmezliği
Kemik tümörü
Bonneau-Beaumont sendromu
Bonnemann-Meinecke-Reich sendromu
Bonnemann-Meinecke sendromu
Bonnet-Dechaume-Blanc sendromu
Book sendromu
Boomerang displazisi
BOOP
Booth-Haworth-Dilling sendrom
Sınırda over epitelyal tümörü
Borjeson-Forssman-Lehmann sendromu
Bork sendromu
Bornholm göz hastalığı
BOR sendromu
Bosley-Salih-Alorainy sendromu
Bosma-Henkin-Christiansen sendromu
BOS sendromu
Bothnia retinal distrofisi
Bothriosefali
Botulizm
Boucher-Neuhauser sendromu
Bourneville sendromu
Boutonneuse ateşi
Bouwes-Bavinck sendromu
Bowen-Conradi sendromu
Bowen sendromu
Hutterit tipi Bowen sendromu
Kısa kemiklerle birlikte doğuştan eğilme
Doğuştan uzun kemiklerde eğilme
Boyadjiev-Jabs sendromu
Boylan-Dew sendromu
BPD
Braak hastalığı
Brachman-de Lange sendromu
Brakisefalofrontozazal displazi
Brakisefali – sağırlık – katarakt – zihinsel yetersizlik
Brakidaktil cücelik, Mseleni tipi
Brakidaktili
Brakidaktili A6
Brakidaktili – anonişi
Brakidaktili – arteriyel hipertansiyon
Brakidaktili-klinodaktili
Brakidaktili – dirsek bilek displazisi
Brakidaktili, Farabee tipi
Brakidaktili grubu
Brakidaktili-entelektüel yetersizlik
Brakidaktili – uzun başparmak
Brakidaktili – mezomeli – entelektüel yetersizlik – kalp kusurları
Brakidaktili, Mohr-Wriedt tipi
Brakidaktili – nistagmus – serebellar ataksi
Brakidaktili – preaksiyal halluks varus
Brakidaktili – skolyoz – karpal füzyon
Brakidaktili, Smorgasbord tipi
Brakidaktili-simfalangizm Sendrom
Brakidiktili-sindaktili, Zhao tipi
Brakidiktili Temtamy tipi
Brakidiktili – tibial hipoplazi
Brakidiktili, A1 tipi
Brakidiktili, A2 tipi
Brakidiktili, A3 tipi
Brakidiktili, A4 tipi
Brakidiktili, A5 tipi
Brakidiktili, A7 tipi
Brakidiktili, B tipi
Brakidiktili, B2 tipi
Brakidiktili, C tipi
Brakidiktili, D tipi
Brakidiktili, E tipi
B ve E tiplerinin birleşimi
Ekstraskeletal belirtilerle veya bunlar olmadan brakidaktili
Brakimezofalanji II ve V
Brakimezofalanji V
Brakimorfizm – onikodisplazi – Disfalangizm
Brakyolmi
Brakyolmi
Maroteaux tipi brakiyolmi
Hobaek tipi brakiyolmi tip 1
Toledo tipi brakiyolmi tip 1
2. brakiyolmi tip 3
Brakitelefalangi – dismorfizm – Kallmann sendromu
Bradbury-Eggleston sendromu
Bra

C İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

C2 deficiency
C3 deposition glomerulonephritis, without proliferation
Cacchi-Ricci disease
CACD
CACH syndrome
CADASIL syndrome
CADP
Café-au-lait spots syndrome
Caffey disease
CAHMR syndrome
Calcified aponeurotic fibroma
Calcinosis – Raynaud phenomenon – esophageal involvement – sclerodactyly – telangiectasia
Calcinosis, tumoral
Calcinosis universalis
Calderon-Gonzalez Cantu syndrome
California encephalitis
Calvarial doughnut lesions – bone fragility
CAMAK syndrome
CAMAK syndrome
Camera’s syndrome
Camero-Lituania-Cohen syndrome
CAMFAK syndrome
CAMOS syndrome
Campodactyly – cleft palate- clubfoot
Campomelia, Cumming type
Campomelic dwarfism
Campomelic dysplasia
Camptobrachydactyly
Camptocormia
Camptocormism
Camptodactyly – fibrous tissue hyperplasia – skeletal dysplasia
Camptodactyly – joint contractures – facial skeletal defects
Camptodactyly overgrowth unusual facies
Camptodactyly syndrome, Guadalajara type 1
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Tel Hashomer type
Camptodactyly – tall stature – scoliosis – hearing loss
Camptodactyly – taurinuria
CAMS
CAMS 1
CAMS 2
CAMS 3
Camurati-Engelmann disease
Canale-Smith syndrome
Canavan disease
Cancer-associated retinopathy
Cancer of fallopian tube
Cancrum oris
Canine teeth radiculomegaly – cataracts, congenital
CANOMAD syndrome
Cantalamessa-Baldini-Ambrosi syndrome
Canthal anomaly
Cantrell pentalogy
Cantu syndrome
Cap disease
Capillary hemangioma, familial form
Capillary leak syndrome
Capillary lymphangioma
Capillary lymphatic malformation
Capillary malformation
Capillary malformation-arteriovenous malformation
Cap myopathy
CAPOS syndrome
Cap polyposis
Capra-DeMarco syndrome
CAPS
CAP syndrome
CARASIL syndrome
Caratolo-Cilio-Pessagno syndrome
Carbamoylphosphate synthetase deficiency
Carbohydrate deficient glycoprotein syndrome,
Carbohydrate metabolism disorder
Carbonic anhydrase II deficiency
Carcinofibroma of the corpus uteri
Carcinoid tumor
Carcinoid tumor and carcinoid syndrome
Carcinoid tumor of the thymus
Carcinoma of the gallbladder
Cardiac anomalies – heterotaxy
Cardiac channelopathy
Cardiac conduction defect, familial
Cardiac conduction disease, dilated cardiomyopathy and brachydactyly
Cardiac disease with cataract
Cardiac diverticulum
Cardiac papillary fibroelastoma
Cardiac rythm disease
Cardiac tumors of the child
Cardiocranial syndrome, Pfeiffer type
Cardiodysrythmic potassium-sensitive periodic paralysis
Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency
Cardiofacial syndrome
Cardiofacial syndrome with cardiomyopathy
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomyopathic lentiginosis
Cardiomyopathy
Cardiomyopathy – cataract – hip spine disease
Cardiomyopathy – deafness, maternally inherited
Cardiomyopathy, dilated, with conduction defect
Cardiomyopathy, dilated, with conduction defect, type 1
Cardiomyopathy, dilated, with conduction defect, type 2
Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
Cardiomyopathy – hearing loss, type tRNA-LYS gene mutation
Cardiomyopathy – hypotonia, due to cytochrome c oxidase deficiency
Cardiomyopathy – hypotonia – lactic acidosis
Cardiomyopathy, idiopathic, dilated, mitochondrial
Cardiomyopathy – renal anomalies
Cardiomyopathy with histiocytoid change, infantile
Cardiomyopathy with myopathy due to COX deficency
Cardioskeletal myopathy-neutropenia
Cardioskeletal syndrome
Carey-Fineman-Ziter syndrome
Carnevale-Canun-Mendoza syndrome
Carnevale-Hernandez-del Castillo syndrome
Carnevale-Krajewska-Fischetto syndrome
Carney complex
Carney dyad
Carney-Stratakis dyad
Carney-Stratakis syndrome
Carney syndrome
Carney triad
Carnitine-acylcarnitine translocase deficiency
Carnitine brain transporter deficiency
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyl transferase 2 deficiency
Carnitine uptake deficiency
Carnosinase deficiency
Carnosinemia
Caroli disease
Carpal deformity – micrognathia – microstomia
Carpal tunnel syndrome
Carpenter syndrome
Carpenter-Waziri syndrome
Carpotarsal osteochondromatosis
Carpotarsal osteolysis, recessive
Carrington’s disease
Carrion disease
CAR syndrome
Cartilage-hair hypoplasia
Carvajal syndrome
Casamassima-Morton-Nance syndrome
Cassia Stocco dos Santos syndrome
Castleman disease
Castleman disease, pediatric onset
Castro Gago-Pombo-Novo syndrome
Catalase deficiency
Cataract – aberrant oral frenula – growth delay
Cataract – alopecia – sclerodactyly
Cataract, anterior polar
Cataract associated with a metabolic disease
Cataract – ataxia – deafness
Cataract cardiomyopathy
Cataract, cerulean
Cataract, congenital – ichthyosis
Cataract, congenital – microphthalmia
Cataract, congenital, partial
Cataract, congenital, total
Cataract, congenital, Volkmann type
Cataract, Coppock-like
Cataract, coralliform
Cataract – deafness – hypogonadism
Cataract-glaucoma
Cataract, Hutterite type
Cataract – hypertrichosis – intellectual deficit
Cataract – intellectual deficit – anal atresia – urinary defects
Cataract – intellectual deficit – hypogonadism
Cataract, lamellar
Cataract – microcephaly – arthrogryposis – kyphosis
Cataract – microcephaly – failure to thrive – kyphoscoliosis
Cataract-microcornea syndrome
Cataract – microphthalmia – radiculomegaly – septal heart defect
Cataract – nephropathy – encephalopathy
Cataract, nuclear
Cataract, posterior polar
Cataract, pulverulent
Cataracts motor neuropathy – short stature – skeletal anomalies
Cataract with Y-shaped suture opacities
Cataract, zonular
CATCH 22
Catecholinergic polymorphic ventricular tachycardia
Catel-Manzke syndrome
Cat-eye syndrome
Cat-scratch disease
CATSHL syndrome
Caudal appendage – deafness
Caudal duplication
Caudal regression sequence
Causalgia
CAVC
Caveolinopathy
Cavernous lymphangioma
Cavernous lymphatic malformation
Cavitary myiasis
Cavitating leukoencephalopathy, progressive
Cayler syndrome
Cayman ataxia
CCA syndrome (Congenital contractural arachnodactyly)
CCFDN
CCGE syndrome
CD
CD59 deficiency
CDA
CDAGS syndrome
CDA, type 1
CDA, type 2
CDA, type 3
CDG IIc
CDG syndrome
CDG syndrome, type 1m
CDG syndrome, type 2h
CDG syndrome, type Ia
CDG syndrome, type Ib
CDG syndrome, type Ic
CDG syndrome, type Id
CDG syndrome, type Ie
CDG syndrome, type If
CDG syndrome, type Ig
CDG syndrome, type Ih
CDG syndrome, type Ii
CDG syndrome, type IIa
CDG syndrome, type IIb
CDG syndrome, type IIc
CDG syndrome, type IId
CDG syndrome, type IIe
CDG syndrome, type IIh
CDG syndrome, type Ij
CDG syndrome, type Ik
CDG syndrome, type IL
CDG syndrome, type Im
CDP
CDPD
Cecato de Lima-Pinheiro syndrome
CEDNIK syndrome
Celiac disease
Celiac disease – epilepsy – occipital calcifications
Celiac sprue
Celosomia
Cenani-Lenz syndactylism
Cenani-Lenz syndrome
Cenani’s syndactyly
Central areolar pigment epithelial dystrophy (CAPED)
Central core disease
Central diabetes insipidus
Central diabetes insipidus, acquired, idiopathic
Central nervous system malformation
Central neurocytoma
Central precocious puberty
Centronuclear myopathy
Centrotemporal epilepsy
Cephalalgia, trigeminal autonomic
Cephalopolysyndactyly
CEPT deficiency
Ceramidase deficiency
Cerebellar ataxia – areflexia – pes cavus – optic atrophy – sensorineural hearing loss
Cerebellar ataxia, early onset, with retained tendon reflex (EOCARR)
Cerebellar ataxia – intellectual deficit – optic atrophy – skin abnormalities
Cerebellar ataxia, type 1, autosomal recessive
Cerebellar ataxia with peripheral neuropathy
Cerebellar atrophy with progressive microcephaly
Cerebellar hypoplasia
Cerebellar hypoplasia – tapetoretinal degeneration
Cerebellar malformation
Cerebellar plus syndrome
Cerebellar syndrome – pigmentary maculopathy
Cerebellar vermis hypoplasia – oligophrenia – congenital ataxia – coloboma – hepatic fibrosis
Cerebello-oculo-renal syndrome
Cerebelloparenchymal autosomal recessive disorder 3
Cerebelloparenchymal disorder IV (CPD IV)
Cerebellum agenesis – hydrocephaly
Cerebral arteriovenous fistula
Cerebral arteriovenous shunt
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernoma
Cerebral cavernous malformations
Cerebral – cerebellar – coloboma syndrome, X-linked
Cerebral diseases of vascular origin with epilepsy
Cerebral disease with cataract
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
Cerebral gigantism
Cerebral gigantism – jaw cysts
Cerebral gigantism, Nevo type
Cerebral hemorrhage with amyloidosis, hereditary
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Cerebral hemorrhage with amyloidosis, hereditary, Icelandic type
Cerebral lipidosis with dementia
Cerebral malformation
Cerebral malformation with epilepsy
Cerebral organic aciduria
Cerebral vascular accident, familial
Cerebrellotrigeminal – dermal dysplasia
Cerebro-costo-mandibular syndrome
Cerebrofacial arteriovenous metameric syndrome
Cerebrofacial arteriovenous metameric syndrome 2
Cerebrofacial arteriovenous metameric syndrome, type 1
Cerebrofacial arteriovenous metameric syndrome, type 3
Cerebro-facio-thoracic dysplasia
Cerebrohepatorenal syndrome
Cerebro-oculo-dento-auriculo-skeletal syndrome
Cerebrooculofacioskeletal syndrome
Cerebro-oculo-genital syndrome
Cerebro-oculo-nasal syndrome
Cerebro-oculo-skeleto-renal syndrome
Cerebro-reno-digital syndrome
Cerebroretinal vasculopathy
Cerebrovascular dementia
Cervical adenocarcinoma
Cervical adenoid basal carcinoma
Cervical adenoid cystic carcinoma
Cervical adenosarcoma
Cervical aorta arch
Cervical dermoid cyst
Cervical dystonia
Cervical germ cell cancer
Cervical hypertrichosis – peripheral neuropathy
Cervical leiomyosarcoma
Cervical malignant germ cell tumor
Cervical malignant mesenchymal tumor
Cervical malignant mixed epithelial and mesenchymal tumor
Cervical malignant müllerian mixed tumor
Cervical malignant peripheral neuroectodermal tumor
Cervical papillary carcinoma
Cervical peripheral neuroectodermal cancer
Cervical rhabdomyosarcoma
Cervical sarcoma
Cervical vertebral fusion, congenital
Cervico-oculo-acoustic syndrome
CFC syndrome
CFTDM
Chagas disease
Chandler syndrome
CHANDS
CHAND syndrome
Chang-Davidson-Carlson syndrome
Channelopathy
Channelopathy-associated insensitivity to pain
Channelopathy due to a calcium-activated potassium channel defect
Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect
Channelopathy due to an epithelial sodium channel defect
Channelopathy due to a neuronal acetylcholine receptor defect
Channelopathy due to a neuronal glycine receptor defect
Channelopathy due to a neuronal kidney GABA receptor defect
Channelopathy due to an inwardly rectifying potassium channel defect
Channelopathy due to a skeletal muscle acetylcholine receptor defect
Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect
Channelopathy due to a transient receptor potential channel defect
Channelopathy due to a voltage-gated calcium channel defect
Channelopathy due to a voltage-gated potassium channel defect
Channelopathy due to a voltage-gated sodium channel defect
Channelopathy due to cyclic nucleotide-gated ion channels
Channelopathy with epilepsy
Chaotic atrial tachycardia
Charcot disease
Charcot-Marie-Tooth, demyelinating, autosomal recessive
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, autosomal recessive, type 2B1
Charcot-Marie-Tooth disease, axonal, autosomal dominant
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 4C
Charcot-Marie-Tooth disease, axonal, with pyramidal involvement
Charcot-Marie-Tooth disease – deafness
Charcot-Marie-Tooth disease – deafness – intellectual deficit
Charcot-Marie-Tooth disease, demyelinating, autosomal dominant
Charcot-Marie-Tooth disease – nephropathy
Charcot-Marie-Tooth disease – pyramidal features
Charcot-Marie-Tooth disease, type 1
Charcot-Marie-Tooth disease, type 1A
Charcot-Marie-Tooth disease, type 1B
Charcot-Marie-Tooth disease, type 1C
Charcot-Marie-Tooth disease, type 1D
Charcot-Marie-Tooth disease, type 1E
Charcot-Marie-Tooth disease, type 1F
Charcot-Marie-Tooth disease, type 2B1
Charcot-Marie-Tooth disease, type 2B2
Charcot-Marie-Tooth disease, type 2B2, axonal, autosomal recessive
Charcot-Marie-Tooth disease, type 2H
Charcot-Marie-Tooth disease, type 3
Charcot-Marie-Tooth disease, type 4
Charcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, type 4B1
Charcot-Marie-Tooth disease, type 4B2
Charcot-Marie-Tooth disease, type 4C
Charcot-Marie-Tooth disease, type 4D
Charcot-Marie-Tooth disease, type 4E
Charcot-Marie-Tooth disease, type 4F
Charcot-Marie-Tooth disease, type 4G
Charcot-Marie-Tooth disease, type 4H
Charcot-Marie-Tooth disease, type 4J
Charcot-Marie-Tooth disease, X-linked
Charcot-Marie-Tooth hereditary neuropathy
Charcot-Marie-Tooth, type 6
Char-Douglas-Dungan syndrome
CHARGE association
Charge like syndrome
CHARGE syndrome
Charlevoix disease
Charlie M syndrome
Char syndrome
Chediak-Higashi like syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
Chemke-Oliver-Mallek syndrome
Chemodectoma, non secreting
Cherry-red-spot, myoclonus syndrome
Cherubism
Cherubism – gingival fibromatosis – intellectual deficit
CHHS
Childhood ataxia with diffuse central nervous system hypomyelination
Childhood disintegrative disorder
Childhood-onset epilepsy syndrome
Childhood-onset proximal spinal muscular atrophy, autosomal dominant
Childhood-onset spastic paraparesis – distal muscle waisting
CHILD syndrome
Chitayat-Meunier-Hodgkinson syndrome
Chitayat-Moore-Del Bigio syndrome
Chitty-Hall-Baraitser syndrome
Chitty-Hall-Webb syndrome
Chloride diarrhea, congenital
Chloroma
Choanal atresia
Choanal atresia, bilateral
Choanal atresia – deafness – cardiac defects – dysmorphism
Choanal atresia, unilateral
Cholangiocarcinoma
Choledochal cyst hand malformation
Cholelithiasis with ABCB4 gene mutation
Cholemia, familial
Cholera
Cholestasis – lymphedema
Cholestasis pigmentary – retinopathy – cleft palate
Cholestasis, progressive familial intrahepatic 2
Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic, type 1
Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Cholestatic hepatic amyloidosis
Cholestatic jaundice – renal tubular insufficiency
Cholesterol ester storage disease
Cholesterol-ester transfer protein deficiency
Cholesteryl ester storage disease
Chondrocalcinosis, familial articular
Chondrocalcinosis, familial articular, type 1 (CCAL1)
Chondrocalcinosis, familial articular, type 2 (CCAL2)
Chondrodysplasia, Blomstrand type
Chondrodysplasia – dentinogenesis imperfecta – joint laxity
Chondrodysplasia – disorder of sex development
Chondrodysplasia, Grebe type
Chondrodysplasia, lethal, Moerman type
Chondrodysplasia, lethal recessive
Chondrodysplasia, lethal, Seller type
Chondrodysplasia, platyspondylic, lethal
Chondrodysplasia – pseudohermaphrodism
Chondrodysplasia punctata
Chondrodysplasia punctata, brachytelephalangic
Chondrodysplasia punctata lethal, neonatal
Chondrodysplasia punctata, nonrhizomelic type
Chondrodysplasia punctata, rhizomelic type
Chondrodysplasia punctata, Sheffield type
Chondrodysplasia punctata, tibial-metacarpal type
Chondrodysplasia punctata, Toriello type
Chondrodysplasia – situs inversus – imperforate anus – polydactyly
Chondrodysplastic malformation syndrome
Chondrodystrophia calcificans congenita
Chondroectodermal dysplasia
Chondromalacia patellae, familial
Chondrosarcoma
Chordoma
Chorea familial, benign
Choreoacanthocytosis
Choreoathetosis – hypothyroidism – neonatal respiratory distress
Choriocarcinoma
Chorioretinal atrophy, progressive bifocal
Chorioretinopathy, Birdshot type
Chorioretinopathy – microcephaly, autosomal dominant
Chorioretinopathy – microcephaly, autosomal recessive
Choristoma
Choroidal atrophy – alopecia
Choroidal dystrophy, central areolar
Choroidal melanoma
Choroidal sclerosis, cenrtal areolar
Choroideremia
Choroideremia – deafness – obesity
Choroideremia – hypopituitarism
Choroido cerebral calcification syndrome, infantile form
CHP
Christian-Rosenberg syndrome
Christianson-Fourie syndrome
Christianson syndrome
Christian syndrome
Christmas tree syndrome
Christ-Siemens-Touraine syndrome
Chromomycosis
Chromosomal anomaly
Chromosomal anomaly with cataract
Chromosomal anomaly with epilepsy as a major feature
Chromosomal disease with overgrowth
Chromosome X structural anomaly
Chromosome Y deletion
Chromosome Y structural anomaly
Chronic acquired demyelinating polyneuropathy
Chronic ataxic neuropathy – ophthalmoplegia – IgM paraprotein – cold agglutinins – disialosyl antibodies
Chronic autoimmune hepatitis
Chronic berylliosis
Chronic beryllium disease
Chronic beryllium lung disease
Chronic cutaneous lupus erythematosus
Chronic encephalitis
Chronic eosinophilic leukemia
Chronic eosinophilic pneumonia
Chronic fatigue immune dysfunction syndrome
Chronic fatigue syndrome
Chronic hiccup
Chronic, infantile, neurological, cutaneous, articular syndrome
Chronic inflammatory demyelinating polyneuropathy
Chronic mucocutaneous candidiasis
Chronic muscular fatigue and/or chronic muscle pain
Chronic myeloid leukemia
Chronic myeloproliferative disease
Chronic myeloproliferative disease, unclassified
Chronic pain requiring intraspinal analgesia
Chronic pneumonitis of infancy
Chronic polyradiculoneuropathy
Chronic primary adrenal insufficiency
Chronic progressive external ophthalmoplegia (CPEO)
Chronic recurrent multifocal osteomyelitis, adult form
Chronic recurrent multifocal osteomyelitis – congenital dyserythropoietic anemia – neutrophilic dermatosis
Chronic recurrent multifocal osteomyelitis, juvenile
Chronic respiratory distress with surfactant metabolism deficiency
Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies
Chronic spinal muscular atrophy
Chronic thromboembolic pulmonary hypertension
Chronic urticaria with macroglobulinemia
Chudley-Lowry-Hoar syndrome
Chudley-Lowry syndrome
Chudley-Rozdilsky syndrome
Churg-Strauss syndrome
Churg-Strauss syndrome, pediatric onset
Chylomicron retention disease
Chylomicron retention – Marinesco-Sjogren syndrome (CMRD-MSS)
Chylous ascites
Cicatricial pemphigoid
CIDP
Ciliary dysentery
Ciliary dyskinesia, acquired
Cilliers-Beighton syndrome
CINCA syndrome
Circumscribed cutaneous aplasia of the vertex
Circumscribed lymphangioma
Circumscribed lymphatic malformation
Cirrhosis associated with cardiac dysfunction
Cirrhotic cardiomyopathy
Citrullinemia
CLAPO syndrome
Clark nevus
Clarkson disease
Classical Hodgkin disease
Classical homocystinuria
Classical juvenile NCL
Classical mycosis fungoides
Classical organic aciduria
Classic Ehlers-Danlos syndrome
Classic Joubert syndrome
Classic lissencephaly
Classic paraneoplastic limbic encephalitis, with or without intracellular antigens
Classic Pfeiffer syndrome
Classic xanthinuria
Claude-Bernard-Horner syndrome, congenital
Clavicle, pseudoarthrosis of, congenital
Clayton Smith-Donnai syndrome
Clear cell sarcoma of the tendons and aponeuroses
Clear cell sarcoma, soft tissue
Cleft, hard palate
Clefting – ectropion – conical teeth
Cleft-Limb-Heart malformation syndrome
Cleft lip/alveolus
Cleft lip and/or palate with mucous cysts of lower lip
Cleft lip/mandibule, median
Cleft lip/palate
Cleft lip palate abnormal thumbs microcephaly
Cleft lip/palate – abnormal thumbs – microcephaly
Cleft lip/palate – deafness – sacral lipoma
Cleft lip/palate – ectrodactyly
Cleft lip/palate – facial, eye, heart and intestinal anomalies
Cleft lip/palate – intellectual deficit – corneal opacities
Cleft lip/palate – intestinal malrotation – cardiopathy
Cleft lip – retinopathy
Cleft lip with or without cleft palate
Cleft lower facial stage, median
Cleft middle facial stage, median
Cleft mitral valve
Cleft nose
Cleft of the upper lip and maxilla, median
Cleft palate
Cleft palate – cardiac defect – genital anomalies – ectrodactyly
Cleft palate – coloboma – deafness
Cleft palate – large ears – small head
Cleft palate-lateral synechia syndrome
Cleft palate – short stature – vertebral anomalies
Cleft palate – stapes fixation – oligodontia
Cleft palate, submucosal
Cleft soft palate
Cleft sternum
Cleft velum
Cleft velum palatinum
Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysplasia group
Cleidocranial dysplasia – micrognathia – absent thumbs
Cleido rhizomelic syndrome
C-like syndrome
CLN10 disease, congenital type
CLN1 disease, infantile type
CLN4 disease
CLN8 disease, northern epilepsy variant
Cloacal exstrophy
Clouston syndrome
Cloverleaf skull – asphyxiating thoracic dysplasia
Cloverleaf skull – micromelic bone dysplasia
Cloverleaf skull – multiple congenital anomalies
CLOVE syndrome
CLPED1
Cluster headache
CM-AVM
CMC
CMD
CMO I
CMO II
CMPD-U
CMRD-MSS
CMT
CMT1
CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT1F
CMT1X
CMT2
CMT2A1
CMT2A2
CMT2B
CMT2C
CMT2D
CMT2E
CMT2F
CMT2G
CMT2I
CMT2J
CMT2K
CMT2L
CMT2X
CMT3X
CMT4
CMT4A
CMT4B1
CMT4B2
CMT4C
CMT4C1, axonal, autosomal recessive
CMT4C2, axonal, autosomal recessive
CMT4C3, axonal, autosomal recessive
CMT4C4, axonal, autosomal recessive
CMT4D
CMT4E
CMT4F
CMT4G
CMT4H
CMT4J
CMT4X
CMT5X
CMT6
CMTX
CMV antenatal infection
COACH syndrome
Coagulopathy due to constitutional coagulation factors defect
Coarctation of aorta autosomal dominant
Coarctation of the abdominal aorta
Coarse face – hypotonia – constipation
Coats disease
Cobalamin malabsorption, selective, with proteinuria
Cobalamin metabolism disease
Cobb syndrome
Cocaine embryofetopathy
Cocaine poisoning
Cochleosaccular degeneration – cataract
Cockayne syndrome
Cockayne syndrome, type 1
Cockayne syndrome, type 2
Cockayne syndrome, type 3
CODAS syndrome
Coeliac disease
Coenzyme Q 10 (CoQ10), deficiency
Coenzyme Q cytochrome c reductase deficiency
Coffin-Lowry syndrome
Coffin-Siris syndrome
COFS syndrome
Cogan-Reese syndrome
Cogan syndrome
Cohen-Hayden syndrome
Cohen syndrome
COIF syndrome
Colchicine poisoning
Cold agglutinin disease
Cold-induced sweating syndrome
Cole-Carpenter syndrome
Colitis, undetermined
Collagenoma, familial, cutaneous
Collagenous colitis
Collagen type III glomerulopathy
Collins-Pope syndrome
Coloboma – chorioretinal – cerebellar vermis aplasia
Coloboma, ectasic
Coloboma – hair abnormality
Coloboma of choroid and retina
Coloboma of eye lens
Coloboma of eyelid
Coloboma of inferior eyelid
Coloboma of iris
Coloboma of macula
Coloboma of macula – brachydactyly type B
Coloboma of optic nerve with renal disease
Coloboma of optic papilla
Coloboma of superior eyelid
Colobomatous and areolar dystrophy
Colobomatous microphthalmia
Colobomatous – microphthalmia – heart disease – hearing loss
Coloboma uveal – cleft lip palate – intellectual deficit
Colon cancer, familial nonpolyposis
Colonic atresia
Colorado tick encephalitis
Colorado tick fever
Colorectal adenomatous polyposis
Color-vision disease
Colourblindness, tritan
Combined cellular and humoral deficiencies and multiple granulomas
Combined deficiency of factor V and factor VIII
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
Combined immunodeficiency due to CD3gamma deficiency
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Combined pituitary hormone deficiencies, genetic forms
Combined prosaposin deficiency
Combined T and B cell immunodeficiency
Comedo nevus of the palm
Comèl-Netherton syndrome
Commissural dysgenesis
Commissural facial cleft
Common aortico-pulmonary trunk
Common arterial trunk
Common atrioventricular canal
Common mesentery
Common variable immunodeficiency
Complement component 2 deficiency
Complement regulatory proteins anomaly
Complete atrioventricular septal defect
Complete growth hormone insensitivity
Complete situs inversus
Complete situs inversus viscerum
Complete transposition
Complete unilateral aplasia of the Müllerian duct
Complex 1, mitochondrial respiratory chain, deficiency of
Complex 2, mitochondrial respiratory chain, deficiency of
Complex 3, mitochondrial respiratory chain, deficiency of
Complex 5, mitochondrial respiratory chain, deficiency of
Complex/combined vascular malformation
Complex regional pain syndrome
Complex regional pain syndrome type 1
Complex regional pain syndrome type 2
Composite Hodgkin and non-Hodgkin lymphoma
Composite lymphoma
Condensing osteitis of the medial clavicle
Condition associated with epileptic seizures
Conduction system cardiomyopathy
Cone dysfunction syndrome with myopia, X-linked
Cone dystrophy
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal scotopic electroretinogram
Cone rod dystrophy
Cone rod dystrophy – amelogenesis imperfecta
Congenital absence of lacrimal puncta and salivary glands
Congenital absence of pain with hyperhidrosis
Congenital absence of the eyebrow/eyelashes
Congenital absence of vagina
Congenital adrenal hyperplasia
Congenital adrenal insufficiency due to adrenal hypoplasia
Congenital alacrima
Congenital aleukocytosis
Congenital alpha2 antiplasmin deficiency
Congenital alveolar capillary dysplasia
Congenital analbuminemia
Congenital analgesia
Congenital analgesia with hyperhidrosis
Congenital and infantile nephrotic syndrome
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital auditory ossicle malformation without external ear abnormality
Congenital bilateral absence of vas deferens
Congenital bilateral aplasia of vas deferens
Congenital cataracts – facial dysmorphism – neuropathy
Congenital central alveolar hypoventilation
Congenital central alveolar hypoventilation – Hirschsprung disease
Congenital convex pes valgus
Congenital defects of phagocyte number, function or both
Congenital deficiency in alpha-fetoprotein
Congenital Disorders of Glycosylation
Congenital ectropion
Congenital enterokinase deficiency
Congenital enteropathy due to enteropeptidase deficiency
Congenital enteropathy involving intestinal mucosa development
Congenital entropion
Congenital facial diplegia
Congenital factor II deficiency
Congenital factor V deficiency
Congenital factor VII deficiency
Congenital factor X deficiency
Congenital factor XI deficiency
Congenital factor XII deficiency
Congenital factor XIII deficiency
Congenital fiber-type disproportion myopathy
Congenital fibrinogen deficiency
Congenital fibrosis of extraocular muscles
Congenital great vessels (aorta, aortic arch, pulmonary arteries) anomaly
Congenital Hageman factor deficiency
Congenital heart malformation
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
Congenital high-molecular-weight kininogen deficiency
Congenital hyperinsulinism
Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism with anosmia
Congenital hypothalamic hamartoma syndrome
Congenital hypothyroidism due to developmental anomaly
Congenital hypothyroidism without developmental anomaly
Congenital indifference to pain
Congenital indifference to pain with hyperhidrosis
Congenital insensitivity to pain
Congenital insensitivity to pain with hyperhidrosis
Congenital intestinal disease due to an enzymatic defect
Congenital intestinal motility disorder
Congenital intestinal transport defect
Congenital isolated ACTH deficiency
Congenital lethal myopathy, Compton-North type
Congenital limb malformation
Congenital longitudinal deficiency of the fibula
Congenital longitudinal deficiency of the radius
Congenital longitudinal deficiency of the tibia
Congenitally corrected transposition of the great arteries
Congenitally corrected transposition of the great vessels
Congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Congenitally uncorrected transposition of the great arteries with coarctation
Congenitally uncorrected transposition of the great vessels
Congenitally uncorrected transposition of the great vessels with cardiac malformation
Congenitally uncorrected transposition of the great vessels with coarctation
Congenital microgastria
Congenital mitral malformation
Congenital mitral valve insufficiency and/or stenosis
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy
Congenital muscular dystrophy due to lamine A/C deficiency
Congenital muscular dystrophy, non merosin negative
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy, type 1B
Congenital muscular dystrophy, type 1C
Congenital muscular dystrophy, type 1D
Congenital muscular dystrophy, Ullrich type
Congenital muscular dystrophy with integrin deficiency
Congenital myasthenic syndromes
Congenital myopathy
Congenital myopathy – cleft palate – malignant hyperthermia
Congenital myopathy, Paradas type
Congenital myopathy with central nuclei
Congenital myopathy with cores
Congenital myopathy with excess of thin filaments
Congenital myopathy with fibre size variation
Congenital myopathy with protein accumulation
Congenital myopathy with vacuoles
Congenital myotonia
Congenital narrowing of cervical spinal canal
Congenital NCL
Congenital neuronal ceroid lipofuscinosis
Congenital or early infantile CACH syndrome
Congenital PAI-1 deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital prekallikrein deficiency
Congenital proconvertin deficiency
Congenital spastic tetraplegia
Congenital Stuart factor deficiency
Congenital TBG deficiency
Congenital temporomandibular joint ankylosis
Congenital thyroid malformation without hypothyroidism
Congenital thyroxine-binding globulin deficiency
Congenital tricuspid malformation
Congenital trismus
Congenital tritanopia
Congenital upper palpebral retraction
Congenital velopharyngeal incompetence
Congenital vitamin K-dependent coagulation factors deficiency
Congenital vitreoretinal dysplasia
Conjunctival hemangioma or hemolymphangioma
Conjunctival lymphangiectasia
Conjunctival telangiectasia
Conjunctival tumor
Conjunctival vascular anomaly
Conjunctivitis lignosa
Conn adenoma
Connective tissue disease with eye involvement
Connective tissue disease with respiratory involvement
Connective tissue dysplasia, Spellacy type
Conn’s adenoma
Conn’s syndrome
Conorenal syndrome
Conotruncal anomalies face syndrome
Conotruncal heart malformations
Conradi-Hünermann-Happle syndrome
Constitutional neutropenia
Constitutional thrombopathy
Constrictive bronchiolitis
Continuous spike-wave during slow sleep syndrome
Contractures – ectodermal dysplasia – cleft lip/palate
Contractures of feet-muscle atrophy-oculomotor apraxia
Contracture syndrome, lethal, congenital type 1
Contracture syndrome, lethal, congenital, type 2
Contracture syndrome, lethal, congenital, type 3
Cooks syndrome
Cooley anemia
Cooper-Jabs syndrome
Copper deficiency, benign, familial
Copper transport disease
Coproporphyria, hereditary
CoQ10 deficiency
Cordiformis uterus
Cormier-Rustin-Munnich syndrome
Corneal anesthesia – deafness – intellectual deficit
Corneal-cerebellar syndrome
Corneal dermoid, X-linked
Corneal dystrophy
Corneal dystrophy, Avellino type
Corneal dystrophy, central cloudy Francois type
Corneal dystrophy, central discoid
Corneal dystrophy, congenital, hereditary, Turpin stromal type
Corneal dystrophy, crystalline, of Schnyder
Corneal dystrophy, deep lattice
Corneal dystrophy, endothelial fuchs type
Corneal dystrophy epithelial – short stature
Corneal dystrophy, gelatinous drop-like
Corneal dystrophy, Groenouw type
Corneal dystrophy, honey-droplet
Corneal dystrophy, juvenile epithelial, of Meesmann
Corneal dystrophy, lattice, type I
Corneal dystrophy, lattice, type IIIa
Corneal dystrophy, linked to BIG-H3 gene
Corneal dystrophy, Lisch type
Corneal dystrophy, macular type
Corneal dystrophy, microcystic
Corneal dystrophy – perceptive deafness
Corneal dystrophy, posterior amorphous
Corneal dystrophy, posterior polymorphous
Corneal dystrophy, Reis-Buckler type
Corneal dystrophy, subepithelial mucinous
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy with progressive deafness
Corneal flecked dystrophy, Francois-Neetens type
Corneal lesions, with associated corneal (limbal) stem cell deficiency, due to ocular burns
Cornea plana, congenital
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Corneogoniodysgenesis
Corneoiridogoniodysgenesis
Coronal dentin dysplasia
Coronaro-cardiac fistula
Coronary arterial course, aorto-pulmonary
Coronary arterial course, intramural
Coronary arterial course, intramyocardial
Coronary arterial fistulas
Coronary arterial malformations
Coronary artery, abnormal origin or aberrant course of
Coronary artery aneurysm, congenital
Coronary artery congenital malformation
Coronary artery disease – hyperlipidemia – hypertension – diabetes – osteoporosis
Coronary ostium, abnormal number
Coronary ostium, malposition
Coronary ostium, stenosis or atrophy
Coronary sinus, anomaly of, congenital
Coronary sinus atresia
Coronary sinus partially or totallyroofed
Coronary sinus stenosis
Coronary sinus type ASD
Corpus callosum agenesis – blepharophimosis – Robin sequence
Corpus callosum, agenesis – cataract – immunodeficiency
Corpus callosum agenesis – double urinary collecting system
Corpus callosum agenesis neuronopathy
Corpus callosum agenesis of with chorioretinal abnormality
Corpus callosum agenesis – polysyndactyly
Corpus callosum dysgenesis – hypopituitarism
Corpus callosum dysgenesis, X-linked recessive
CORS
Cortada-Koussef-Matsumoto syndrome
Cortical blindness – intellectual deficit – polydactyly
Cortical cataract, childhood onset
Cortical development anomaly
Cortical dysplasia – focal epilepsy syndrome
Cortical dysplasia, Taylor type
Cortical hyperostosis – syndactyly
Cortical myoclonus and epilepsy, autosomal dominant
Corticobasal degeneration
Corticosteroid-binding globulin deficiency
Corticosteroid-sensitive aseptic abscesses
Corticosterone methyl-oxydase deficiency type 2
Corticosterone methyl-oxydase deficiency type I
Corticotroph pituitary adenoma
Cor triatriatum
Cor triatriatum dexter
Cor triatriatum dextrum
Cor triatriatum sinister
Cor triatriatum sinistrum
Cosack syndrome
Costeff optic atrophy syndrome
Costeff syndrome
Costello syndrome
Costocoracoid ligament, congenitally short
Costovertebral segmentation defect – mesomelia
Côte-Adamopoulos-Pantelakis syndrome
Cote-Katsantoni syndrome
Coumarin embryopathy
Cousin syndrome
COVESDEM syndrome
Cowchock syndrome
Cowchock-Wapner-Kurtz syndrome
Cowden syndrome
COX deficiency, French-Canadian type
Coxoauricular syndrome
Coxo-podo-patellar syndrome
COXPD1
CPI
CPVT
Cramer-Niederdellmann syndrome
Crandall syndrome
Crane-Heise syndrome
Cranial dural arteriovenous malformations
Cranial malformation
Cranial nerve and nuclear aplasia
Cranioacrofacial syndrome
Craniocarpotarsal dystrophy (dysplasia)
Craniocerebellocardiac dysplasia
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia, autosomal dominant
Craniodigital syndrome – intellectual deficit
Cranioectodermal dysplasia
Craniofacial and osseous defects – intellectual deficit
Craniofacial anomaly with cataract
Craniofacial cleft
Craniofacial conodysplasia
Craniofacial-deafness-hand syndrome
Craniofacial dysmorphism – coloboma – corpus callosum agenesis
Craniofacial dysostosis – arthrogryposis – progeroid appearance
Craniofacial dysostosis – diaphyseal hyperplasia
Craniofacial dysostosis – genital, dental, cardiac anomalies
Craniofacial dyssynostosis
Craniofaciocardioskeletal syndrome
Craniofaciocervical osteoglyphic dysplasia
Cranio-facio-digito-genital syndrome
Craniofrontonasal dysplasia
Craniofrontonasal dysplasia – Poland anomaly
Craniofrontonasal dysplasia, Teebi type
Craniolenticulosutural dysplasia
Craniometadiaphyseal dysplasia, wormian bone type
Craniometaphyseal dysplasia
Craniomicromelic syndrome
Cranio osteoarthropathy
Craniopharyngioma
Craniorachischisis
Craniorhiny
Craniostenosis associated with a strabismus
Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
Craniosynostosis
Craniosynostosis – alopecia – brain defect
Craniosynostosis – anal anomalies – porokeratosis
Craniosynostosis, Boston type
Craniosynostosis – cataract
Craniosynostosis – congenital heart disease – intellectual deficit
Craniosynostosis – Dandy-Walker – hydrocephalus
Craniosynostosis – dysmorphism – brachydactyly
Craniosynostosis – fibular aplasia
Craniosynostosis, Herrmann-Opitz type
Craniosynostosis – hydrocephalus – Chiari I malformation – radioulnar synostosis
Craniosynostosis – intracranial calcifications
Craniosynostosis – midfacial hypoplasia – foot abnormalities
Craniosynostosis, Philadelphia type
Craniosynostosis-radial aplasia, Imaizumi type
Craniosynostosis-radial aplasia syndrome
Craniosynostosis syndrome or cranial ossification disease
Craniosynostosis – synostoses – hypertensive nephropathy
Craniosynostosis, Warman type
Craniotelencephalic dysplasia
CRAPB
CRASH syndrome
Creatine biosynthesis disorder
Creatine deficiency, cerebral
Creatine transporter deficiency
Cree leukoencephalopathy
Creeping myiasis
CREST syndrome
Creutzfeldt-Jakob disease
Cri du chat syndrome
Crigler-Najjar syndrome
Crigler-Najjar syndrome, type 1
Crigler-Najjar syndrome, type 2
Crimean-Congo hemorrhagic fever (CCHF)
Crisponi syndrome
Criss-cross heart
Criswick-Schepens syndrome
CRMO, adult form
CRMO, juvenile
Crohn disease
Crome syndrome
Cronkhite-Canada syndrome
Cross syndrome
Crouzon craniofacial dysostosis
Crouzon disease
Crouzono-dermoskeletal syndrome
Crouzon syndrome – acanthosis nigricans
Crow-Fukase syndrome
CRV
CRYAB
Cryoglobulinemia, mixed
Cryoglobulinemia mixed, type II
Cryoglobulinemia mixed, type III
Cryoglobulinemia, simple
Cryoglobulinemia, type I
Cryoglobulinemic vascularitis
Cryohydrocytosis, stomatin deficient – intellectual deficit – seizures – cataracts – hepatosplenomegaly
Cryopyrin-associated periodic syndrome
Cryptococcosis
Cryptogenic late-onset epileptic spasms
Cryptogenic organizing pneumonia
Cryptomicrotia – brachydactyly – excess fingertip arch
Cryptophthalmia
Cryptophthalmia, complete
Cryptophthalmia, isolated
Cryptophthalmia, partial
Cryptophthalmos-syndactyly syndrome
Cryptorchidism – arachnodactyly – intellectual deficit
Cryptosporidiosis
CSID
CSWSS syndrome
C syndrome
CTEPH
Culler-Jones syndrome
Curly hair – ankyloblepharon – nail dysplasia syndrome
Currarino syndrome
Currarino triad
Curry-Hall syndrome
Curry-Jones syndrome
Cushing disease
Cushing syndrome
Cushing syndrome, ACTH-dependent
Cushing syndrome, ACTH-independent
Cushing syndrome, ectopic
Cushing syndrome, iatrogenic
Cutaneomeningospinal angiomatosis
Cutaneous amyloidosis
Cutaneous amyloidosis, nodular form
Cutaneous and mucosal candidosis, idiopathic
Cutaneous and mucosal venous malformation
Cutaneous B-cell lymphoma
Cutaneous gamma/delta-positive T-cell lymphoma
Cutaneous hypersensitivity vasculitis
Cutaneous larva migrans
Cutaneous lymphangioma circumscriptum
Cutaneous lymphoma
Cutaneous mastocytoma
Cutaneous myiasis
Cutaneous neuroendocrine carcinoma
Cutaneous photosensitivity – colitis, lethal
Cutaneous small vessel vasculitis
Cutaneous T-cell lymphoma
Cutis gyrata – acanthosis nigricans – craniosynostosis
Cutis laxa
Cutis laxa – corneal clouding – intellectual deficit
Cutis laxa, dominant type
Cutis laxa, recessive type 1
Cutis laxa, recessive type 2
Cutis laxa with joint laxity and retarded development
Cutis laxa, X-linked
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Cutis verticis gyrata – intellectual deficit
Cutis verticis gyrata – retinitis pigmentosa – neurosensory deafness
Cutis verticis gyrata – retinitis pigmentosa – neurosensory hearing loss
Cutis verticis gyrata – retinitis pigmentosa – sensorineural deafness
Cutis verticis gyrata – retinitis pigmentosa – sensorineural hearing loss
Cutis verticis gyrata – thyroid aplasia – intellectual deficit
Cutix laxa-Marfanoid syndrome
Cutler-Bass-Romshe syndrome
CVID
Cyclosporosis
Cylindromatosis, familial
Cyprus facial-neuromusculoskeletal syndrome
Cys-loop receptor channelopathy
Cystathionine beta-synthase deficiency
Cystathioninuria
Cystatin C amyloid angiopathy, hereditary (CCAAH)
Cystic adenomatoid – malformation of the lung
Cystic angiomatosis of bone, diffuse
Cysticercosis
Cystic fibrosis
Cystic fibrosis – gastritis – megaloblastic anemia
Cystic hamartoma of lung and kidney
Cystic hygroma
Cystic hygroma, lethal – cleft palate
Cystic leukoencephalopathy without megalencephaly
Cystic medial necrosis of aorta
Cystinosis
Cystin transport, protein defect of
Cystinuria
Cystinuria – lysinuria
Cystinuria, type A
Cystinuria, type B
Cystoid macular dystrophy
Cystoid macular edema, autosomal dominant
Cystosarcoma phyllode
Cystosarcoma phylloide
Cysts and fistulae of the face and oral cavity
Cytoarchitectural cortical focal dysplasia
Cytochrome c oxydase deficiency, French-Canadian type
Cytomegalovirus antenatal infection
Cytomegalovirus (CMV) disease in patients with impaired cell mediated immunity deemed at risk
Cytopenia, autoimmune
Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
Czech dysplasia, metatarsal type
Czeizel-Brooser syndrome
Czeizel-Losonci syndrome
Czeizel syndrome

C İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

C2 eksikliği
C3 birikimi glomerülonefriti, proliferasyon olmaksızın
Cacchi-Ricci hastalığı
CACD
CACH sendromu
CADASIL sendromu
CADP
Café-au-lait lekeleri sendromu
Caffey hastalığı
CAHMR sendromu
Kalsifiye aponevrotik fibroma
Kalsinoz – Raynaud fenomeni – özofagus tutulumu – sklerodaktili – telanjiektazi
Tümöral kalsinoz
Kalsinozis universalis
Calderon-Gonzalez Cantu sendromu
Kaliforniya ensefaliti
Kafatası halka lezyonları – kemik kırılganlığı
CAMAK sendromu
CAMAK sendromu
Camera sendromu
Camero-Lituania-Cohen sendromu
CAMFAK sendromu
CAMOS sendromu
Kampodaktili – yarık damak – çarpık ayak
Cumming tipi kampomeli
Kampomeli cücelik
Kampomeli displazi
Kamptobrakidaktili
Kamptokormia
Kamptokormizm
Kamptodaktili – fibröz doku hiperplazisi – iskelet displazisi
Kamptodaktili – eklem kontraktürleri – yüz iskeleti kusurları
Kamptodaktili aşırı büyümesi olağandışı yüz görünümü
Kamptodaktili sendromu, Guadalajara tip 1
Kamptodaktili sendromu, Guadalajara tip 2
Kamptodaktili sendromu, Tel Hashomer tipi
Kamptodaktili – uzun boy – skolyoz – işitme kaybı
Kamptodaktili – taurinüri
CAMS
CAMS 1
CAMS 2
CAMS 3
Camurati-Engelmann hastalığı
Canale-Smith sendromu
Canavan hastalığı
Kanserle ilişkili retinopati
Fallop tüpü kanseri
Cancrum oris
Köpek dişleri radikülomegali – katarakt, doğuştan
CANOMAD sendromu
Cantalamessa-Baldini-Ambrosi sendromu
Kantal anomali
Cantrell pentalojisi
Cantu sendromu
Cap hastalığı
Kapiller hemanjiyom, ailesel form
Kapiller sızıntı sendromu
Kapiller lenfanjiyom
Kapiller lenfatik malformasyon
Kapiller malformasyon
Kapiller malformasyon-arteriyovenöz malformasyon
Cap miyopatisi
CAPOS sendromu
Cap polipozisi
Capra-DeMarco sendromu
CAPS
CAP sendromu
CARASIL sendromu
Caratolo-Cilio-Pessagno sendromu
Karbamoylfosfat sentaz eksikliği
Karbonhidrat eksikliği glikoprotein sendromu
Karbonhidrat metabolizma bozukluğu
Karbonik anhidraz II eksikliği
Uterus korpusunun karsinofibroma’sı
Karsinoid tümör
Karsinoid tümör ve karsinoid sendromu
Timusun karsinoid tümörü
Karsinoma Safra kesesi
Kalp anomalileri – heterotaksi
Kalp kanalopatisi
Kalp iletim kusuru, ailesel
Kalp iletim hastalığı, dilate kardiyomiyopati ve brakidaktili
Kataraktlı kalp hastalığı
Kalp divertikülü
Kalp papiller fibroelastoması
Kalp ritim hastalığı
Çocuk kalp tümörleri
Pfeiffer tipi kardiyokraniyal sendrom
Kardiyodisritmik potasyum duyarlı periyodik paralizi
Sitokrom c oksidaz eksikliğine bağlı ölümcül infantil kardiyoensefalomiyopati
Kardiyofasiyal sendrom
Kardiyomiyopatili kardiyofasiyal sendrom
Kardiyofasiokutanöz sendrom
Kardiyogenital sendrom
Kardiyomiyopatik lentiginozis
Kardiyomiyopati
Kardiyomiyopati – katarakt – kalça omurga hastalığı
Kardiyomiyopati – anneden kalıtılan sağırlık
İletim kusurlu dilate kardiyomiyopati
Dilate kardiyomiyopati ile İletim kusuru, tip 1
İletim kusuru ile birlikte dilate kardiyomiyopati, tip 2
Kas ve kalp glikojen eksikliğine bağlı egzersiz intoleransı ile kardiyomiyopati
İşitme kaybı, tip tRNA-LYS gen mutasyonu ile kardiyomiyopati
Sitokrom c oksidaz eksikliğine bağlı hipotoni ile kardiyomiyopati
Hipotoni – laktik asidoz ile kardiyomiyopati
İdiyopatik, dilate, mitokondriyal kardiyomiyopati
Böbrek anomalileri ile kardiyomiyopati
Histiyositoit değişiklikli, infantil kardiyomiyopati
COX eksikliğine bağlı miyopati ile kardiyomiyopati
Kardiyoskeletal miyopati – nötropeni
Kardiyoskeletal sendrom
Carey-Fineman-Ziter sendromu
Carnevale-Canun-Mendoza sendromu
Carnevale-Hernandez-del Castillo sendromu
Carnevale-Krajewska-Fischetto sendromu
Carney kompleksi
Carney ikili
Carney-Stratakis ikilisi
Carney-Stratakis sendromu
Carney sendromu
Carney üçlüsü
Karnitin-açilkarnitin translokaz eksikliği
Karnitin beyin taşıyıcı eksikliği
Karnitin palmitoil transferaz 1 eksikliği
Karnitin palmitoil transferaz 2 eksikliği
Karnitin alım eksikliği
Karnozinaz eksikliği
Karnozinemi
Caroli hastalığı
Karpal deformite – mikrognafi – mikrostomi
Karpal tünel sendromu
Carpenter sendromu
Carpenter-Waziri sendromu
Karpotarsal osteokondromatozis
Karpotarsal osteoliz, resesif
Carrington hastalığı
Carrion hastalığı
CAR sendromu
Kıkırdak-saç hipoplazisi
Carvajal sendromu
Casamassima-Morton-Nance sendromu
Cassia Stocco dos Santos sendromu
Castleman hastalığı
Castleman hastalığı, pediatrik başlangıçlı
Castro Gago-Pombo-Novo sendromu
Katalaz eksikliği
Katarakt – Anormal ağız frenulumu – büyüme geriliği
Katarakt – alopesi – sklerodaktili
Ön kutup kataraktı
Metabolik hastalıkla ilişkili katarakt
Katarakt – ataksi – sağırlık
Katarakt kardiyomiyopatisi
Mavi katarakt
Konjenital katarakt – iktiyozis
Konjenital katarakt – mikroftalmi
Konjenital kısmi katarakt
Konjenital total katarakt
Konjenital Volkmann tipi katarakt
Coppock benzeri katarakt
Mercan biçimli katarakt
Katarakt – sağırlık – hipogonadizm
Katarakt-glokom
Hutterit tipi katarakt
Katarakt – hipertrichosis – zihinsel yetersizlik
Katarakt – zihinsel yetersizlik – anal atrezi – idrar kusurları
Katarakt – zihinsel yetersizlik – hipogonadizm
Katarakt, lamellar
Katarakt – mikrosefali – artrogripozis – kifoz
Katarakt – mikrosefali – gelişme geriliği – kifoskolyoz
Katarakt-mikrokornea sendromu
Katarakt – mikroftalmi – radikülomegali – septal kalp defekti
Katarakt – nefropati – ensefalopati
Kontrast, nükleer
Katarakt, posterior polar
Katarakt, tozlu
Katarakt motor nöropatisi – kısa boy – iskelet anomalileri
Y şeklinde sütür opasiteleri olan katarakt
Katarakt, zonüler
CATCH 22
Katekolinerjik polimorfik ventriküler taşikardi
Catel-Manzke sendromu
Kedi gözü sendromu
Kedi tırmığı hastalığı
CATSHL sendromu
Kaudal uzantı – sağırlık
Kaudal duplikasyon
Kaudal regresyon sıra
Kausalgia
CAVC
Kaveolinopati
Kavernöz lenfanjiyom
Kavernöz lenfatik malformasyon
Kaviter miyazis
İlerleyici kavitasyonlu lökoensefalopati
Cayler sendromu
Cayman ataksisi
CCA sendromu (Konjenital kontraktürel araknodaktili)
CCFDN
CCGE sendromu
CD
CD59 eksikliği
CDA
CDAGS sendromu
CDA, tip 1
CDA, tip 2
CDA, tip 3
CDG IIc
CDG sendromu
CDG sendromu, tip 1m
CDG sendromu, tip 2h
CDG sendromu, tip Ia
CDG sendromu, tip Ib
CDG sendromu, tip Ic
CDG sendromu, tip Id
CDG sendromu, tip Ie
CDG sendromu, tip If
CDG sendromu, tip Ig
CDG sendromu, tip Ih
CDG sendromu, tip IIa
CDG sendromu, tip IIb
CDG sendromu, Tip IIc
CDG sendromu, Tip IId
CDG sendromu, Tip IIe
CDG sendromu, Tip IIh
CDG sendromu, Tip Ij
CDG sendromu, Tip Ik
CDG sendromu, Tip IL
CDG sendromu, Tip Im
CDP
CDPD
Cecato de Lima-Pinheiro sendromu
CEDNIK sendromu
Çölyak hastalığı
Çölyak hastalığı – epilepsi – oksipital kalsifikasyonlar
Çölyak sprue
Selosomia
Cenani-Lenz sindaktili
Cenani-Lenz sendromu
Cenani sindaktilisi
Merkezi areolar pigment epitel distrofisi (CAPED)
Merkezi çekirdek hastalığı
Merkezi diyabetes insipidus
Edinilmiş, idiyopatik merkezi diyabetes insipidus
Merkezi sinir sistemi malformasyonu
Merkezi nörositoma
Merkezi erken ergenlik
Santronükleer miyopati
Santrotemporal Epilepsi
Sefalalji, trigeminal otonomik
Sefalopolisindaktili
CEPT eksikliği
Seramidaz eksikliği
Serebellar ataksi – arefleksi – pes cavus – optik atrofi – sensörinöral işitme kaybı
Serebellar ataksi, erken başlangıçlı, korunmuş tendon refleksi ile (EOCARR)
Serebellar ataksi – entelektüel yetersizlik – optik atrofi – deri anormallikleri
Serebellar ataksi, tip 1, otozomal resesif
Serebellar ataksi ve periferik nöropati
Serebellar atrofi ve ilerleyici mikrosefali
Serebellar hipoplazi
Serebellar hipoplazi – tapetoretinal dejenerasyon
Serebellar malformasyon
Serebellar artı sendromu
Serebellar sendrom – pigmenter makülopati
Serebellar vermis hipoplazisi – oligofreni – konjenital ataksi – kolobom – hepatik fibrozis
Serebello-okülo-renal sendrom
Serebelloparenkimal otozomal resesif bozukluk 3
Serebelloparenkimal bozukluk IV (CPD IV)
Serebellum agenezisi – hidrosefali
Serebral arteriyovenöz fistül
Serebral arteriyovenöz şant
Subkortikal enfarktlar ve lökensefalopati ile birlikte serebral otozomal dominant arteriyopati
Subkortikal enfarktlar ve lökensefalopati ile birlikte serebral otozomal resesif arteriyopati
Serebral kavernoma
Serebral kavernöz malformasyonlar
X’e bağlı serebral – serebellar – koloboma sendromu
Epilepsi ile birlikte vasküler kökenli serebral hastalıklar
Katarakt ile birlikte serebral hastalık
Serebral disgenezi, nöropati, iktiyoz ve palmoplantar keratoderma
Serebral gigantizm
Serebral gigantizm – çene kistleri
Serebral gigantizm, Nevo tipi
Kalıtsal amiloidozlu serebral kanama
Kalıtsal, Hollanda tipi amiloidozlu serebral kanama
Kalıtsal, İzlanda tipi amiloidozlu serebral kanama
Demanslı serebral lipidoz
Serebral malformasyon
Epilepsili serebral malformasyon
Serebral organik asidüri
Ailesel serebral vasküler kaza
Serebrellotrigeminal – dermal displazi
Serebro-kostomandibular sendrom
Serebrofasiyal arteriovenöz metamerik sendrom
Serebrofasiyal arteriovenöz metamerik sendrom 2
Serebrofasiyal arteriovenöz metamerik sendrom, tip 1
Serebrofasiyal arteriovenöz metamerik sendrom, tip 3
Serebro-fasiyo-torasik displazi
Serebrohepatorenal sendrom
Serebro-okülo-dento-aurikulo-iskelet sendromu
Serebrookülofasio-iskelet sendromu
Serebro-okülo-genital sendrom
Serebro-okülo-nazal sendrom
Serebro-okülo-iskelet-renal sendrom
Serebro-reno-dijital sendrom
Serebroretinal vaskülopati
Serebrovasküler demans
Servikal adenokarsinom
Servikal adenoid bazal karsinom
Servikal adenoid kistik karsinom
Servikal adenosarkom
Servikal aort arkı
Servikal dermoid kist
Servikal distoni
Servikal germ hücreli kanser
Servikal hipertrikoz – periferik nöropati
Servikal leiomyosarkom
Servikal malign germ hücreli tümör
Servikal malign mezenkimal tümör
Servikal malign karışık epitelyal ve Mezenkimal tümör
Servikal malign Müllerian karışık tümör
Servikal malign periferik nöroektodermal tümör
Servikal papiller karsinom
Servikal periferik nöroektodermal kanser
Servikal rhabdomiyosarkom
Servikal sarkom
Konjenital servikal vertebra füzyonu
Serviko-okülo-akustik sendrom
CFC sendromu
CFTDM
Chagas hastalığı
Chandler sendromu
CHANDS
CHAND sendromu
Chang-Davidson-Carlson sendromu
Kanalopati
Kanalopati ile ilişkili ağrı duyarsızlığı
Kalsiyumla aktive olan potasyum kanal defektine bağlı kanalopati
Kalp kası sarkoplazmik retikulum kalsiyum salınım kanalı defektine bağlı kanalopati
Epitel sodyum kanal defektine bağlı kanalopati
Nöronal asetilkolin reseptör defektine bağlı kanalopati
Nöronal glisin reseptör defektine bağlı kanalopati
Nöronal böbrek GABA reseptör defektine bağlı kanalopati
İçeri doğru düzeltici potasyum kanal defektine bağlı kanalopati
İskelet kası asetilkolin reseptörüne bağlı kanalopati kusur
İskelet kası sarkoplazmik retikulum kalsiyum salınım kanalı kusuruna bağlı kanalopati
Geçici reseptör potansiyel kanalı kusuruna bağlı kanalopati
Voltaj kapılı kalsiyum kanalı kusuruna bağlı kanalopati
Voltaj kapılı potasyum kanalı kusuruna bağlı kanalopati
Voltaj kapılı sodyum kanalı kusuruna bağlı kanalopati
Siklik nükleotid kapılı iyon kanallarına bağlı kanalopati
Epilepsi ile birlikte kanalopati
Kaotik atriyal taşikardi
Charcot hastalığı
Charcot-Marie-Tooth, demiyelinizan, otozomal resesif
Charcot-Marie-Tooth hastalığı
Charcot-Marie-Tooth hastalığı, otozomal resesif, tip 2B1
Charcot-Marie-Tooth hastalığı, aksonal, otozomal dominant
Charcot-Marie-Tooth hastalığı, aksonal, otozomal resesif, tip 2K
Charcot-Marie-Tooth hastalığı, aksonal, otozomal resesif, tip 4C
Charcot-Marie-Tooth hastalığı, aksonal, piramidal tutulumlu
Charcot-Marie-Tooth hastalığı – sağırlık
Charcot-Marie-Tooth hastalığı – sağırlık – zihinsel yetersizlik
Charcot-Marie-Tooth hastalığı, demiyelinizan, otozomal dominant
Charcot-Marie-Tooth hastalığı – nefropati
Charcot-Marie-Tooth hastalığı – piramidal özellikler
Charcot-Marie-Tooth hastalığı, tip 1
Charcot-Marie-Tooth hastalığı, tip 1A
Charcot-Marie-Tooth hastalığı, tip 1B
Charcot-Marie-Tooth hastalığı, tip 1C
Charcot-Marie-Tooth hastalığı, tip 1D
Charcot-Marie-Tooth hastalığı, tip 1E
Charcot-Marie-Tooth hastalığı, tip 1F
Charcot-Marie-Tooth hastalığı, tip 2B1
Charcot-Marie-Tooth hastalığı, tip 2B2
Charcot-Marie-Tooth hastalığı, tip 2B2, aksonal, otozomal resesif
Charcot-Marie-Tooth hastalığı, tip 2H
Charcot-Marie-Tooth hastalığı, tip 3
Charcot-Marie-Tooth hastalığı, tip 4
Charcot-Marie-Tooth hastalığı, tip 4A
Charcot-Marie-Tooth hastalığı, tip 4B1
Charcot-Marie-Tooth hastalığı, tip 4B2
Charcot-Marie-Tooth hastalığı, tip 4C
Charcot-Marie-Tooth hastalığı, tip 4D
Charcot-Marie-Tooth hastalığı, tip 4E
Charcot-Marie-Tooth hastalığı, tip 4F
Charcot-Marie-Tooth hastalığı, tip 4G
Charcot-Marie-Tooth hastalığı, tip 4H
Charcot-Marie-Tooth hastalığı, tip 4J
Charcot-Marie-Tooth hastalığı, X’e bağlı
Charcot-Marie-Tooth kalıtsal nöropatisi
Charcot-Marie-Tooth, tip 6
Char-Douglas-Dungan sendromu
CHARGE birlikteliği
Charge benzeri sendrom
CHARGE sendromu
Charlevoix hastalığı
Charlie M sendromu
Char sendromu
Chediak-Higashi benzeri sendrom
Chediak-Higashi sendromu
Cheilitis glandularis
Chemke-Oliver-Mallek sendromu
Kemodektoma, salgılamayan
Kiraz kırmızısı leke, miyoklonus sendromu
Şerubizm
Şerubizm – diş eti fibromatozu – zihinsel yetersizlik
CHHS
Yaygın merkezi sinir sistemi hipomiyelinizasyonu ile çocukluk çağı ataksisi
Çocukluk çağı disintegratif bozukluğu
Çocukluk çağı başlangıçlı epilepsi sendromu
Çocukluk çağı başlangıçlı proksimal spinal musküler atrofi, otozomal dominant
Çocukluk çağı başlangıçlı spastik paraparesis – distal kas zayıflaması
ÇOCUK sendrom
Chitayat-Meunier-Hodgkinson sendromu
Chitayat-Moore-Del Bigio sendromu
Chitty-Hall-Baraitser sendromu
Chitty-Hall-Webb sendromu
Konjenital klorür ishali
Kloroma
Koanal atrezi
İki taraflı koanal atrezi
Koanal atrezi – sağırlık – kalp kusurları – dismorfizm
Tek taraflı koanal atrezi
Kolanjiyokarsinom
Koledokal kist el malformasyonu
ABCB4 gen mutasyonu ile kolesistiyazis
Ailesel kolemi
Kolera
Kolestazi – lenfödem
Pigmenter kolestaz – retinopati – yarık damak
İlerleyici ailesel intrahepatik kolestaz 2
İlerleyici ailesel intrahepatik kolestaz 3
İlerleyici ailesel intrahepatik kolestaz, tip 1
Kolestazi ile delta(4)-3-oksosteroid 5-beta-redüktaz eksikliği
Kolestatik hepatik amiloidoz
Kolestatik sarılık – renal tübüler yetmezlik
Kolesterol ester depolama hastalığı
Kolesterol-ester transfer protein eksikliği
Kolesteril ester depolama hastalığı
Kondrokalsinoz, ailesel eklem
Kondrokalsinoz, ailesel eklem, tip 1 (CCAL1)
Kondrokalsinoz, ailesel eklem, tip 2 (CCAL2)
Kondrodisplazi, Blomstrand tipi
Kondrodisplazi – dentinogenezis imperfekta – eklem gevşekliği
Kondrodisplazi – cinsel gelişim bozukluğu
Kondrodisplazi, Grebe tipi
Kondrodisplazi, ölümcül, Moerman tipi
Kondrodisplazi, ölümcül resesif
Kondrodisplazi, ölümcül, Seller tipi
Kondrodisplazi, platyspondylik, ölümcül
Kondrodisplazi – psödohermafrodizm
Kondrodisplazi – noktasal
Brakitelefalanjik noktasal kondrodisplazi
Ölümcül, yenidoğan noktasal kondrodisplazi
Rizomelik olmayan noktasal kondrodisplazi
Rizomelik tip noktasal kondrodisplazi
Sheffield tipi noktasal kondrodisplazi
Tibial-metakarpal tip noktasal kondrodisplazi
Toriello tipi noktasal kondrodisplazi
Kondrodisplazi – situs inversus – imperforate anus – polidaktili
Kondrodisplastik malformasyon sendromu
Kondrodistrofi kalsifikans konjenita
Kondroektodermal displazi
Ailesel patella kondromalazisi
Kondrosarkom
Kordoma
Ailesel kore iyi huylu
Koreokantositoz
Koreoatetoz – hipotiroidizm – yenidoğan solunum güçlüğü
Koryokarsinom
İlerleyici bifokal koryoretinal atrofi
Koryoretinopati, Birdshot tipi
Koyoretinopati – otozomal dominant mikrosefali
Koyoretinopati – otozomal resesif mikrosefali
Koristoma
Koroidal atrofi – alopesi
Merkezi areolar koroidal distrofi
Koroidal melanom
Merkezi areolar koroidal skleroz
Kroideremi
Kroideremi – sağırlık – obezite
Kroideremi – hipopituitarizm
Koroido serebral kalsifikasyon sendromu, infantil form
CHP
Christian-Rosenberg sendromu
Christianson-Fourie sendromu
Christianson sendromu
Christian sendromu
Noel ağacı sendromu
Christ-Siemens-Touraine sendromu
Kromomikoz
Kromozomal Anormallik
Kataraktlı kromozomal anomali
Epilepsi ana özelliği olan kromozomal anomali
Aşırı büyüme ile seyreden kromozomal hastalık
X kromozomu yapısal anomalisi
Y kromozomu delesyonu
Y kromozomu yapısal anomalisi
Kronik edinilmiş demiyelinizan polinöropati
Kronik ataksik nöropati – oftalmopleji – IgM paraproteini – soğuk aglütininler – disialosil antikorları
Kronik otoimmün hepatit
Kronik berilyozis
Kronik berilyum hastalığı
Kronik berilyum akciğer hastalığı
Kronik kutanöz lupus eritematozus
Kronik ensefalit
Kronik eozinofilik lösemi
Kronik eozinofilik pnömoni
Kronik yorgunluk immün disfonksiyon sendromu
Kronik yorgunluk sendromu
Kronik hıçkırık
Kronik, infantil, nörolojik, kutanöz, artiküler sendrom
Kronik inflamatuar Miyelin kaybına bağlı polinöropati
Kronik mukokutanöz kandidiyazis
Kronik kas yorgunluğu ve/veya kronik kas ağrısı
Kronik miyeloid lösemi
Kronik miyeloproliferatif hastalık
Sınıflandırılmamış kronik miyeloproliferatif hastalık
İntraspinal analjezi gerektiren kronik ağrı
Bebeklik döneminin kronik pnömonisi
Kronik poliradikülonöropati
Kronik primer adrenal yetmezlik
Kronik ilerleyici eksternal oftalmopleji (CPEO)
Kronik tekrarlayan multifokal osteomiyelit, yetişkin formu
Kronik tekrarlayan multifokal osteomiyelit – konjenital diseritropoetik anemi – nötrofilik dermatozis
Kronik tekrarlayan multifokal osteomiyelit, juvenil
Sürfaktan metabolizması yetersizliği ile kronik solunum güçlüğü
Anti-diyalosil IgM antikorları ile kronik duyusal ataksik nöropati
Kronik spinal musküler atrofi
Kronik tromboembolik pulmoner hipertansiyon
Makroglobulinemili kronik ürtiker
Chudley-Lowry-Hoar sendromu
Chudley-Lowry sendromu
Chudley-Rozdilsky sendromu
Churg-Strauss sendromu
Churg-Strauss sendromu, pediatrik başlangıçlı
Şilomikron retansiyon hastalığı
Şilomikron retansiyonu – Marinesco-Sjogren sendromu (CMRD-MSS)
Şilöz asit
Sikatrisyel pemfigoid
CIDP
Siliyer dizanteri
Edinilmiş siliyer diskinezi
Cilliers-Beighton sendromu
CINCA sendromu
Tepe bölgesinin sınırlı kutanöz aplazisi
Sınırlı lenfanjiyom
Sınırlı lenfatik malformasyon
Kalp fonksiyon bozukluğu ile ilişkili siroz
Sirotik kardiyomiyopati
Sitrülinemi
CLAPO sendromu
Clark nevüs
Clarkson hastalığı
Klasik Hodgkin Hastalık
Klasik homosistinüri
Klasik juvenil NCL
Klasik mikozis fungoides
Klasik organik asidüri
Klasik Ehlers-Danlos sendromu
Klasik Joubert sendromu
Klasik lissensefali
Klasik paraneoplastik limbik ensefalit, hücre içi antijenlerle veya antijenler olmadan
Klasik Pfeiffer sendromu
Klasik ksantinüri
Claude-Bernard-Horner sendromu, konjenital
Klavikula, psödoartroz, konjenital
Clayton Smith-Donnai sendromu
Tendon ve aponevrozların berrak hücreli sarkoması
Yumuşak doku berrak hücreli sarkoması
Sert damak yarığı
Yarık – ektropiyon – konik dişler
Yarık-Uzuv-Kalp malformasyon sendromu
Yarık dudak/alveol
Alt dudağın mukoz kistleri ile yarık dudak ve/veya damak
Orta dudak/mandibül yarığı
Yarık Dudak/damak
Yarık dudak/damak, anormal başparmaklar, mikrosefali
Yarık dudak/damak – anormal başparmaklar – mikrosefali
Yarık dudak/damak – sağırlık – sakral lipom
Yarık dudak/damak – ektrodaktili
Yarık dudak/damak – yüz, göz, kalp ve bağırsak anomalileri
Yarık dudak/damak – zihinsel yetersizlik – kornea opaklıkları
Yarık dudak/damak – bağırsak malrotasyonu – kardiyopati
Yarık dudak – retinopati
Yarık dudak, damaklı veya damaksız
Yarık alt yüz evresi, median
Yarık orta yüz evresi, median
Yarık mitral kapak
Yarık burun
Üst dudak ve maksilla yarığı, median
Yarık damak
Yarık damak – kalp kusuru – genital anomaliler – ektrodaktili
Yarık damak – kolobom – sağırlık
Yarık damak – büyük kulaklar – küçük kafa
Yarık damak-lateral sineşi sendromu
Yarık damak – kısa boy – omurga anomalileri
Yarık damak – üzengi kemiği fiksasyonu – oligodonti
Submukozal yarık damak
Yumuşak damak yarığı
Sternum yarığı
Dudak yarığı
Damak yarığı
Kleidokraniyal disostozis
Kleidokraniyal displazi
Kleidokraniyal displazi grubu
Kleidokraniyal displazi – mikrognafi – başparmak yokluğu
Kleido rizomelik sendrom
C benzeri sendrom
CLN10 hastalığı, konjenital tip
CLN1 hastalığı, infantil tip
CLN4 hastalığı
CLN8 hastalığı, kuzey epilepsi varyantı
Kloakal ekstrofi
Clouston sendromu
Yonca yaprağı kafatası – asfiksiye edici torasik displazi
Yonca yaprağı kafatası – mikromelik kemik displazisi
Yonca yaprağı kafatası – çoklu konjenital Anormallikler
CLOVE sendromu
CLPED1
Küme baş ağrısı
CM-AVM
CMC
CMD
CMO I
CMO II
CMPD-U
CMRD-MSS
CMT
CMT1
CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT1F
CMT1X
CMT2
CMT2A1
CMT2A2
CMT2B
CMT2C
CMT2D
CMT2E
CMT2F
CMT2G
CMT2I
CMT2J
CMT2K
CMT2L
CMT2X
CMT3X
CMT4
CMT4A
CMT4B1
CMT4B2
CMT4C
CMT4C1, aksonal, otozomal resesif
CMT4C2, aksonal, otozomal resesif
CMT4C3, aksonal, otozomal resesif
CMT4C4, aksonal, otozomal resesif
CMT4D
CMT4E
CMT4F
CMT4G
CMT4H
CMT4J
CMT4X
CMT5X
CMT6
CMTX
CMV doğum öncesi enfeksiyonu
COACH sendromu
Yapısal pıhtılaşma faktörleri kusuruna bağlı koagülopati
Otozomal dominant aort koarktasyonu
Aort koarktasyonu
Kaba yüz – hipotoni – kabızlık
Coats hastalığı
Selektif kobalamin malabsorpsiyonu, proteinüri ile birlikte
Kobalamin metabolizma hastalığı
Cobb sendromu
Kokain embriyofetopatisi
Kokain zehirlenmesi
Kokleosakküler dejenerasyon – katarakt
Cockayne sendromu
Cockayne sendromu, tip 1
Cockayne sendromu, tip 2
Cockayne sendromu, tip 3
CODAS sendromu
Çölyak hastalığı
Koenzim Q 10 (CoQ10) eksikliği
Koenzim Q sitokrom c redüktaz eksiklik
Coffin-Lowry sendromu
Coffin-Siris sendromu
COFS sendromu
Cogan-Reese sendromu
Cogan sendromu
Cohen-Hayden sendromu
Cohen sendromu
COIF sendromu
Kolşisin zehirlenmesi
Soğuk aglütinin hastalığı
Soğuğa bağlı terleme sendromu
Cole-Carpenter sendromu
Belirsiz kolit
Ailesel kutanöz kollajenoma
Kollajenöz kolit
Kollajen tip III glomerülopati
Collins-Pope sendromu
Korioretinal – serebellar vermis aplazisi kolobomu
Ektazik kolobom
Saç anormalliği kolobomu
Koroid ve retina kolobomu
Göz merceği kolobomu
Göz kapağı kolobomu
Alt göz kapağı kolobomu
İris kolobomu
Makula kolobomu
Makula kolobomu – B tipi brakidaktili
Böbrek hastalığı ile birlikte optik sinir kolobomu
Optik papilla kolobomu
Üst kolobomu Göz kapağı
Kolobomatöz ve areolar distrofi
Kolobomatöz mikroftalmi
Kolobomatöz – mikroftalmi – kalp hastalığı – işitme kaybı
Üveal koloboma – yarık dudak damak – zihinsel yetersizlik
Ailesel polipozsuz kolon kanseri
Kolonik atrezi
Colorado kene ensefaliti
Colorado kene ateşi
Kolorektal adenomatöz polipozis
Renk görme hastalığı
Renk körlüğü, tritan
Birleşik hücresel ve humoral eksiklikler ve çoklu granülomlar
Faktör V ve faktör VIII’in birleşik eksikliği
Sülfit oksidaz, ksantin dehidrogenaz ve aldehit oksidazın birleşik eksikliği
CD3gamma eksikliğine bağlı birleşik immün yetmezlik
Birleşik insülin, insülin benzeri büyüme faktörü 1 (IGF1) ve epidermal büyüme faktörü (EGF) eksikliği
Birleşik hipofiz hormonu eksiklikleri, genetik formlar
Birleşik Prosaposin eksikliği
Birleşik T ve B hücre immün yetmezliği
Avuç içi komedo nevüsü
Comèl-Netherton sendromu
Komissural disgenezi
Komissural yüz yarığı
Ortak aortiko-pulmoner trunk
Ortak arteriyel trunk
Ortak atriyoventriküler kanal
Ortak mezenter
Ortak değişken immün yetmezlik
Komplement bileşeni 2 eksikliği
Komplement düzenleyici protein anomalisi
Tam atriyoventriküler septal defekt
Tam büyüme hormonu duyarsızlığı
Tam situs inversus
Tam situs inversus viscerum
Tam transpozisyon
Müllerian kanalının tam unilateral aplazisi
Kompleks 1, mitokondriyal solunum zinciri eksikliği
Kompleks 2, mitokondriyal solunum zinciri eksikliği
Kompleks 3, mitokondriyal solunum zinciri eksikliği
Kompleks 5, mitokondriyal solunum zinciri eksikliği
Kompleks/birleşik vasküler malformasyon
Kompleks bölgesel ağrı sendromu
Kompleks bölgesel ağrı sendromu tip 1
Kompleks bölgesel ağrı sendromu tip 2
Kompozit Hodgkin ve non-Hodgkin lenfoma
Kompozit lenfoma
Medial klavikulanın kondensan osteiti
Epileptik nöbetlerle ilişkili durum
İletim sistemi kardiyomiyopatisi
X’e bağlı miyopi ile koni disfonksiyon sendromu
Koni distrofisi
Süpernormal çubuk elektroretinogramı ile koni distrofisi
Süpernormal çubuk ERG’si ile koni distrofisi
Süpernormal çubuk yanıtı ile koni distrofisi
Süpernormal skotopik elektroretinogram ile koni distrofisi
Koni çubuk distrofisi
Koni çubuk distrofisi – amelogenezis imperfekta
Gözyaşı kanallarının ve tükürük bezlerinin doğuştan yokluğu
Hiperhidroz ile birlikte doğuştan ağrı yokluğu
Kaş/kirpiklerin doğuştan yokluğu
Vajinanın doğuştan yokluğu
Doğuştan adrenal hiperplazi
Doğuştan adrenal yetmezliği (adrenal hipoplaziye bağlı)
Doğuştan alacrima
Doğuştan aleukositoz
Doğuştan alfa2 antiplazmin eksikliği
Doğuştan alveoler kapiller displazi
Doğuştan analbuminemi
Doğuştan analjezi
Hiperhidrozlu doğuştan analjezi
Doğuştan ve infantil nefrotik sendrom
Fibula sağlamken tibia’nın doğuştan aplazisi ve displazisi
Dış kulak anormalliği olmaksızın doğuştan işitsel kemikçik malformasyonu
Doğuştan bilateral vas deferens yokluğu
Doğuştan bilateral vas deferens aplazisi
Doğuştan katarakt – yüz dismorfizmi – nöropati
Doğuştan santral alveoler hipoventilasyon
Doğuştan santral alveoler hipoventilasyon – Hirschsprung hastalığı
Doğuştan konveks pes valgus
Fagosit sayısı, fonksiyonu veya her ikisinde doğuştan kusurlar
Doğuştan yetersizlik Alfa-fetoprotein
Doğuştan Glikozilasyon Bozuklukları
Doğuştan ektropiyon
Doğuştan enterokinaz eksikliği
Enteropeptidaz eksikliğine bağlı doğuştan enteropati
Bağırsak mukozası gelişimini içeren doğuştan enteropati
Doğuştan entropiyon
Doğuştan yüz felci
Doğuştan faktör II eksikliği
Doğuştan faktör V eksikliği
Doğuştan faktör VII eksikliği
Doğuştan faktör X eksikliği
Doğuştan faktör XI eksikliği
Doğuştan faktör XII eksikliği
Doğuştan faktör XIII eksikliği
Doğuştan lif tipi orantısız miyopati
Doğuştan fibrinojen eksikliği
Ekstraoküler kasların doğuştan fibrozisi
Doğuştan büyük damarlar (aorta, aort kemeri, pulmoner arterler) anomalisi
Doğuştan Hageman faktör eksikliği
Doğuştan kalp malformasyonu
İktiyoziform eritrodermi ve uzuv defektleri ile doğuştan hemidisplazi
Doğuştan yüksek moleküler ağırlıklı kininojen Eksiklik
Doğuştan hiperinsülinizm
Doğuştan hipogonadotropik hipogonadizm
Anosmi ile birlikte doğuştan hipogonadotropik hipogonadizm
Doğuştan hipotalamik hamartoma sendromu
Gelişimsel anomaliye bağlı doğuştan hipotiroidizm
Gelişimsel anomali olmaksızın doğuştan hipotiroidizm
Doğuştan ağrıya duyarsızlık
Doğuştan ağrıya duyarsızlık ve aşırı terleme
Doğuştan ağrıya duyarsızlık
Doğuştan ağrıya duyarsızlık ve aşırı terleme
Enzimatik kusura bağlı doğuştan bağırsak hastalığı
Doğuştan bağırsak hareket bozukluğu
Doğuştan bağırsak taşıma kusuru
Doğuştan izole ACTH eksikliği
Doğuştan ölümcül miyopati, Compton-North tipi
Doğuştan uzuv malformasyonu
Doğuştan fibula uzunlamasına yetersizliği
Doğuştan radius uzunlamasına yetersizliği
Doğuştan tibia uzunlamasına yetersizliği
Doğuştan düzeltilmiş büyük kemik transpozisyonu Arterler
Doğuştan düzeltilmiş büyük damarların transpozisyonu
Doğuştan düzeltilmemiş büyük arterlerin transpozisyonu
Doğuştan düzeltilmemiş büyük arterlerin transpozisyonu ve kalp malformasyonu
Doğuştan düzeltilmemiş büyük arterlerin transpozisyonu ve aort koarktasyonu
Doğuştan düzeltilmemiş büyük damarların transpozisyonu
Doğuştan düzeltilmemiş büyük damarların transpozisyonu ve kalp malformasyonu
Doğuştan düzeltilmemiş büyük damarların transpozisyonu ve aort koarktasyonu
Doğuştan mikrogastri
Doğuştan mitral malformasyonu
Doğuştan mitral kapak yetmezliği ve/veya stenozu
Dış oftalmopleji ile birlikte doğuştan multikor miyopati
Doğuştan kas distrofisi
Lamine A/C eksikliğine bağlı doğuştan kas distrofisi
Doğuştan kas distrofisi, merosin negatif olmayan
Doğuştan kas distrofisi tip 1A
Doğuştan kas distrofisi, tip 1B
Doğuştan kas distrofi, tip 1C
Konjenital kas distrofisi, tip 1D
Konjenital kas distrofisi, Ullrich tipi
İntegrin eksikliği ile konjenital kas distrofisi
Konjenital miyastenik sendromlar
Konjenital miyopati
Konjenital miyopati – yarık damak – malign hipertermi
Konjenital miyopati, Paradas tipi
Merkezi çekirdekli konjenital miyopati
Çekirdekli konjenital miyopati
İnce filament fazlalığı ile konjenital miyopati
Lif boyutu varyasyonu ile konjenital miyopati
Protein birikimi ile konjenital miyopati
Vakuollü konjenital miyopati
Konjenital miyotoni
Servikal spinal kanalın konjenital daralması
Konjenital NCL
Konjenital nöronal seroid lipofusinoz
Konjenital veya erken infantil CACH sendromu
Konjenital PAI-1 eksikliği
Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği
Konjenital prekallikrein eksikliği
Konjenital prokonvertin eksiklik
Doğuştan spastik tetrapleji
Doğuştan Stuart faktör eksikliği
Doğuştan TBG eksikliği
Doğuştan temporomandibular eklem ankilozu
Hipotiroidizm olmaksızın doğuştan tiroid malformasyonu
Doğuştan tiroksin bağlayıcı globulin eksikliği
Doğuştan triküspit malformasyonu
Doğuştan trismus
Doğuştan tritanopi
Doğuştan üst göz kapağı çekilmesi
Doğuştan velofaringeal yetersizlik
Doğuştan K vitamini bağımlı pıhtılaşma faktörleri eksikliği
Doğuştan vitreoretinal displazi
Konjonktival hemanjiyom veya hemolimfanjiyom
Konjonktival lenfanjiektazi
Konjonktival telanjiektazi
Konjonktival tümör
Konjonktival vasküler anomali
Konjonktivitis lignosa
Conn adenomu
Göz tutulumlu bağ dokusu hastalığı
Solunum sistemi tutulumlu bağ dokusu hastalığı
Bağ dokusu displazisi, Spellacy tipi
Conn adenomu
Conn sendromu
Konorrenal sendrom
Konotrunkal anomaliler yüz sendromu
Konotrunkal kalp malformasyonları
Conradi-Hünermann-Happle sendromu
Konstitüsyonel nötropeni
Konstitüsyonel trombopati
Konstriktif bronşiyolit
Yavaş uyku sırasında sürekli diken dalga sendromu
Kontraktürüsler – ektodermal displazi – yarık dudak/damak
Ayak kontraktürleri – kas atrofisi – okülomotor apraksi
Kontraktürüs sendromu, ölümcül, konjenital tip 1
Kontraktürüs sendromu, ölümcül, konjenital tip 2
Kontraktürüs sendromu, ölümcül, konjenital tip 3
Cooks sendromu
Cooley anemisi
Cooper-Jabs sendrom
Bakır eksikliği, iyi huylu, ailesel
Bakır taşıma hastalığı
Koproporfiri, kalıtsal
CoQ10 eksikliği
Cordiformis uterus
Cormier-Rustin-Munnich sendromu
Kornea anestezisi – sağırlık – zihinsel yetersizlik
Kornea-serebellar sendromu
X’e bağlı kornea dermoidi
Kornea distrofisi
Avellino tipi kornea distrofisi
Merkezi bulanık Francois tipi kornea distrofisi
Merkezi diskoid kornea distrofisi
Konjenital, kalıtsal, Turpin stromal tipi kornea distrofisi
Schnyder tipi kristal kornea distrofisi
Derin kafes kornea distrofisi
Endoteliyal Fuchs tipi kornea distrofisi
Epitel kornea distrofisi – kısa boy
Jelatinimsi damla benzeri kornea distrofisi
Kornea Kornea distrofisi, Groenouw tipi
Bal damlası şeklinde kornea distrofisi
Meesmann tipi juvenil epitelyal kornea distrofisi
Tip I kafes şeklinde kornea distrofisi
Tip IIIa kafes şeklinde kornea distrofisi
BIG-H3 geniyle bağlantılı kornea distrofisi
Lisch tipi kornea distrofisi
Maküler tip kornea distrofisi
Mikrokistik kornea distrofisi
Algısal sağırlıklı kornea distrofisi
Arka amorf kornea distrofisi
Arka polimorf kornea distrofisi
Reis-Buckler tipi kornea distrofisi
Subepitelyal mukozal kornea distrofisi
Thiel-Behnke tipi kornea distrofisi
İlerleyici sağırlıkla birlikte kornea distrofisi
Benekli kornea distrofisi Francois-Neetens tipi
Göz yanıklarına bağlı kornea (limbal) kök hücre yetmezliği ile ilişkili kornea lezyonları
Konjenital kornea plana
Cornelia de Lange sendromu
Korneodermatoosseöz sendrom
Korneogoniodisgenezi
Korneoiridogoniodisgenezi
Koronal dentin displazisi
Koronarokardiyak fistül
Koroner arterin aorto-pulmoner seyri
Koroner arterin intramural seyri
Koroner arterin intramiyokardiyal seyri
Koroner arter fistülleri
Koroner arter malformasyonları
Koroner arterin anormal kökeni veya sapkın seyri
Konjenital koroner arter anevrizması
Koroner arter konjenital malformasyonu
Koroner arter hastalığı – hiperlipidemi – hipertansiyon – diyabet – osteoporoz
Koroner ostiumun anormal sayısı
Koroner ostiumun yanlış pozisyonu
Koroner Ostium, stenoz veya atrofi
Koroner sinüs anomalisi, konjenital
Koroner sinüs atrezisi
Koroner sinüsün kısmen veya tamamen kapalı olması
Koroner sinüs stenozu
Koroner sinüs tipi ASD
Korpus kallozum agenezisi – blefarofimozis – Robin sekansı
Korpus kallozum agenezisi – katarakt – immün yetmezlik
Korpus kallozum agenezisi – çift idrar toplama sistemi
Korpus kallozum agenezisi nöropatisi
Korpus kallozum agenezisi ve koryoretinal anormallik
Korpus kallozum agenezisi – polisindaktili
Korpus kallozum disgenezi – hipopituitarizm
Korpus kallozum disgenezi, X’e bağlı resesif
CORS
Cortada-Koussef-Matsumoto sendromu
Kortikal körlük – zihinsel yetersizlik – polidaktili
Çocukluk çağı başlangıçlı kortikal katarakt
Kortikal gelişim Anomali
Kortikal displazi – fokal epilepsi sendromu
Kortikal displazi, Taylor tipi
Kortikal hiperostoz – sindaktili
Kortikal miyoklonus ve epilepsi, otozomal dominant
Kortikobazal dejenerasyon
Kortikosteroid bağlayıcı globulin eksikliği
Kortikosteroid duyarlı aseptik apseler
Kortikosteron metiloksidaz eksikliği tip 2
Kortikosteron metiloksidaz eksikliği tip I
Kortikotrop hipofiz adenomu
Kor triatriatum
Kor triatriatum dexter
Kor triatriatum dextrum
Kor triatriatum sinister
Kor triatriatum sinistrum
Cosack sendromu
Costeff optik atrofi sendromu
Costeff sendromu
Costello sendromu
Konjenital olarak kısa kostokorakoid ligament
Kostovertebra segmentasyon defekti – Mezomeli
Côte-Adamopoulos-Pantelakis sendromu
Cote-Katsantoni sendromu
Kumarin embriyopatisi
Cousin sendromu
COVESDEM sendromu
Cowchock sendromu
Cowchock-Wapner-Kurtz sendromu
Cowden sendromu
COX eksikliği, Fransız-Kanada tipi
Koksoauriküler sendrom
Kokso-podo-patellar sendrom
COXPD1
CPI
CPVT
Cramer-Niederdellmann sendromu
Crandall sendromu
Crane-Heise sendromu
Kranial dural arteriovenöz malformasyonlar
Kranial malformasyon
Kranial sinir ve nükleer aplazi
Kranioakrofasiyal sendrom
Kraniokarpotarsal distrofi (displazi)
Kraniocerebellokardiyak displazi
Kraniodiyafizyel displazi
Kraniodiyafizyel displazi, otozomal dominant
Kraniodijital sendrom – entelektüel eksiklik
Kranioektodermal displasia
Kraniyofasiyal ve kemik defektleri – zihinsel yetersizlik
Kataraktlı kraniyofasiyal anomali
Kraniyofasiyal yarık
Kraniyofasiyal konodisplazi
Kraniyofasiyal-sağırlık-el sendromu
Kraniyofasiyal dismorfizm – kolobom – korpus kallozum agenezisi
Kraniyofasiyal disostozis – artrogripozis – progeroid görünüm
Kraniyofasiyal disostozis – diyafiz hiperplazisi
Kraniyofasiyal disostozis – genital, dental, kardiyak anomaliler
Kraniyofasiyal dissinostozis
Kraniyofasiyokardiyoskeletal sendrom
Kraniyofasiyoservikal osteoglifik displazi
Kraniyo-fasiyo-digito-genital sendrom
Kraniyofrontonazal displazi
Kraniyofrontonazal displazi – Poland anomalisi
Kraniyofrontonazal displazi, Teebi tipi
Kraniyolentikülosutural Displazi
Kraniometadiyafizyel displazi, Wormian kemik tipi
Kraniometafizyel displazi
Kraniomikromelik sendrom
Kranio osteoartropati
Kraniyofaringioma
Kraniorakşizis
Kraniorhini
Şaşılıkla ilişkili kraniostenoz
Konjenital kalp hastalığı, zihinsel yetersizlik ve mandibular ankiloz ile birlikte sagital kraniostenoz
Kraniosinostoz
Kraniosinostoz – alopesi – beyin defekti
Kraniosinostoz – anal anomaliler – porokeratoz
Boston tipi kraniosinostoz
Kraniosinostoz – katarakt
Kraniosinostoz – konjenital kalp hastalığı – zihinsel yetersizlik
Kraniosinostoz – Dandy-Walker sendromu – hidrosefali
Kraniosinostoz – dismorfizm – brakidaktili
Kraniosinostoz – fibula aplazi
Kraniosinostoz, Herrmann-Opitz tipi
Kraniosinostoz – hidrosefali – Chiari I malformasyonu – radyoulnar sinostoz
Kraniosinostoz – intrakraniyal kalsifikasyonlar
Kraniosinostoz – orta yüz hipoplazisi – ayak anormallikleri
Kraniosinostoz, Philadelphia tipi
Kraniosinostoz-radyal aplazi, Imaizumi tipi
Kraniosinostoz-radyal aplazi sendromu
Kraniosinostoz sendromu veya kraniyal kemikleşme hastalığı
Kraniosinostoz – sinostozlar – hipertansif nefropati
Kraniosinostoz, Warman tipi
Kraniotelensefalik displazi
CRAPB
CRASH sendromu
Kreatin biyosentez bozukluğu
Serebral kreatin eksikliği
Kreatin taşıyıcı eksikliği
Cree lökoensefalopatisi
Sürünen miyazis
CREST sendrom
Creutzfeldt-Jakob hastalığı
Cri du chat sendromu
Crigler-Najjar sendromu
Crigler-Najjar sendromu, tip 1
Crigler-Najjar sendromu, tip 2
Kırım-Kongo hemorajik ateşi (CCHF)
Crisponi sendromu
Çapraz kalp
Criswick-Schepens sendromu
CRMO, yetişkin formu
CRMO, juvenil
Crohn hastalığı
Crome sendromu
Cronkhite-Canada sendromu
Cross sendromu
Crouzon kraniyofasiyal disostozis
Crouzon hastalığı
Crouzono-dermoskeletal sendrom
Crouzon sendromu – akantozis nigrikans
Crow-Fukase sendromu
CRV
CRYAB
Karışık kriyoglobulinemi
Karışık kriyoglobulinemi, tip II
Karışık kriyoglobulinemi, tip III
Basit kriyoglobulinemi
Kriyoglobulinemi, tip I
Kriyoglobulinemik vaskülarit
Kriyohidrositoz, stomatin eksikliği – zihinsel yetersizlik – nöbetler – katarakt – hepatosplenomegali
Kriyopirinle ilişkili periyodik sendrom
Kriptokokozis
Kriptojenik geç başlangıçlı epileptik spazmlar
Kriptojenik organize pnömoni
Kriptomikrotia – brakidaktili – aşırı parmak ucu kemeri
Kriptoftalmi
Kriptoftalmi, tam
Kriptoftalmi, izole
Kriptoftalmi, parsiyel
Kriptoftalmos-sindaktili sendromu
Kriptorşizm – araknodaktili – zihinsel yetersizlik
Kriptosporidiyozis
CSID
CSWSS sendromu
C sendromu
CTEPH
Culler-Jones sendromu
Kıvırcık saç – ankiloblefaron – tırnak displazisi sendromu
Currarino sendromu
Currarino Üçlü sendrom
Curry-Hall sendromu
Curry-Jones sendromu
Cushing hastalığı
Cushing sendromu
ACTH bağımlı Cushing sendromu
ACTH bağımsız Cushing sendromu
Ektopik Cushing sendromu
İyatrojenik Cushing sendromu
Kutanomeningospinal anjiyomatozis
Kutanöz amiloidoz
Kutanöz amiloidoz, nodüler form
İdiyopatik kutanöz ve mukozal kandidiyazis
Kutanöz ve mukozal venöz malformasyon
Kutanöz B hücreli lenfoma
Kutanöz gama/delta pozitif T hücreli lenfoma
Kutanöz aşırı duyarlılık vasküliti
Kutanöz larva migrans
Kutanöz lenfanjiyoma sirkumskriptum
Kutanöz lenfoma
Kutanöz mastositoma
Kutanöz miyazis
Kutanöz nöroendokrin karsinom
Kutanöz fotosensitivite – kolit, öldürücü
Kutanöz küçük damar vasküliti
Kutanöz T hücreli lenfoma
Cutis gyrata – acanthosis nigricans – kraniyosinostoz
Cutis laxa
Cutis laxa – kornea bulanıklığı – entelektüel eksiklik
Cutis laxa, baskın tip
Cutis laxa, resesif tip 1
Cutis laxa, resesif tip 2
Eklem gevşekliği ve gecikmiş gelişim ile Cutis laxa
Cutis laxa, X’e bağlı
Cutis marmorata telenjiektatika konjenita
Cutis verticis girata
Cutis verticis gyrata – entelektüel eksiklik
Cutis verticis gyrata – retinitis pigmentosa – nörosensöriyel sağırlık
Cutis verticis gyrata – retinitis pigmentosa – nörosensör işitme kaybı
Cutis verticis gyrata – retinitis pigmentosa – Sensörinöral sağırlık
Cutis verticis gyrata – retinitis pigmentosa – sensörinöral işitme kaybı
Cutis verticis gyrata – tiroid aplazisi – zihinsel yetersizlik
Cutix laxa – Marfanoid sendromu
Cutler-Bass-Romshe sendromu
CVID
Siklosporozis
Ailesel silindromatozis
Kıbrıs yüz-nöromüsküler-iskelet sendromu
Sistein döngüsü reseptör kanalopatisi
Sistatiyonin beta-sentaz eksikliği
Sistatiyoninüri
Kalıtsal sistatin C amiloid anjiyopatisi (CCAAH)
Kistik adenomatoid – akciğer malformasyonu
Kistik kemik anjiyomatozu, yaygın
Sistiserkoz
Kistik fibrozis
Kistik fibrozis – gastrit – megaloblastik anemi
Akciğer ve böbreğin kistik hamartoması
Kistik higroma
Ölümcül kistik higroma – yarık damak
Megalensefali olmadan kistik lökensefalopati
Aortanın kistik medial nekrozu
Sistinozis
Sistin taşıma protein kusuru
Sistinüri
Sistinüri – lizinüri
Sistinüri, tip A
Sistinüri, tip B
Kistoid maküler distrofi
Kistoid maküler Ödem, otozomal dominant
Kistosarkoma filloid
Kistosarkoma filloid
Yüz ve ağız boşluğunun kistleri ve fistülleri
Sitoarkitektürel kortikal fokal displazi
Sitokrom c oksidaz eksikliği, Fransız-Kanada tipi
Sitomegalovirüs doğum öncesi enfeksiyonu
Hücre aracılı bağışıklığı bozulmuş ve risk altında olduğu düşünülen hastalarda sitomegalovirüs (CMV) hastalığı
Sitopeni, otoimmün
Sitoplazmik metil grubu transferi veya kükürt amino asit metabolizma bozukluğu
Çek displazisi, metatarsal tip
Czeizel-Brooser sendromu
Czeizel-Losonci sendromu
Czeizel sendromu

D İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

D-2-hydroxyglutaricaciduria
Dacryocystitis – osteopoikilosis
Dacryocystocele
Daentl-Townsend-Siegel syndrome
Dahlberg-Borer-Newcomer syndrome
Daish-Hardman-Lamont syndrome
Dancing Eye syndrome
Dandy Walker – facial hemangioma
Dandy-Walker malformation, isolated
Dandy-Walker malformation – macrocephaly
Dandy-Walker malformation – polydactyly, postaxial
Daneman-Davy-Mancer syndrome
Danon disease
Darier disease
Darier-Gottron disease
Darier-White disease
Darling’s disease
Da silva syndrome
Davenport-Donlan syndrome
David syndrome
Davies disease
Davis-Lafer syndrome
Dawson’s encephalitis
DCMA syndrome
DCMD
Deaf blind hypopigmentation syndrome, Yemenite type
Deafness, autosomal dominant, nonsyndromic, neurosensory, type DFNA3
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA3
Deafness, autosomal recessive, nonsyndromic, neurosensory, type DFNB1
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB1
Deafness – cataracts – skeletal anomalies
Deafness, conductive – malformed external ear
Deafness conductive – ptosis – skeletal anomalies
Deafness-craniofacial syndrome
Deafness-dystonia-optic atrophy syndrome
Deafness – ear malformation – facial palsy
Deafness – enamel hypoplasia – nail defects
Deafness – epiphyseal dysplasia – short stature
Deafness – genital anomalies – metacarpal and metatarsal synostosis
Deafness – hypogonadism
Deafness-infertility syndrome
Deafness-intellectual deficit, Martin-Probst type
Deafness – lymphedema – leukemia
Deafness mixed with perilymphatic Gusher, X-linked
Deafness mixed with perilymph Gusher, X-linked
Deafness – nephritis – ano-rectal malformation
Deafness neurosensory – pituitary dwarfism
Deafness – oligodontia
Deafness-onychodystrophy, dominant form
Deafness – onychodystrophy – osteodystrophy – intellectual deficit
Deafness-onychodystrophy, recessive form
Deafness-optic atrophy syndrome
Deafness – opticoacoustic nerve atrophy – dementia
Deafness – peripheral neuropathy – arterial disease
Deafness – pili torti – hypogonadism
Deafness, progressive, with stapes fixation
Deafness – skeletal dysplasia – lip granuloma
Deafness – small bowel diverticulosis – neuropathy
Deafness – symphalangism syndrome, Hermann type
Deafness – thyroid hormone resistance
Deafness-tubular acidosis-anemia
Deafness – vitiligo – achalasia
Deafness – white hair – contractures – papillomas
Deal-Barrat-Dillon syndrome
De Barsy syndrome
Deciduous skin
de Die Smulders-Vles-Fryns syndrome
Dedifferentiated liposarcoma
Defect in adaptive immunity
Defect in innate immunity
Defective apolipoprotein B-100, familial
Deficiency of complement of terminal pathway
Deficiency of short chain Acyl-CoA dehydrogenase
Deficient breast volume or number
Déficit intellectuel lié à l’X, non spécifique
Déficit isolé en FSH
Degos disease
Degos, genodermatosis “en cocardes”
De Hauwere-Leroy-Adriaenssens syndrome
Dehydratase deficiency
Dehydrated hereditary stomatocytosis
Dejerine-Sottas syndrome
Dekaban-Arima syndrome
DEL11q23.3
DEL11q ter
DEL13Q14
Del15q13
De la Chapelle dysplasia
De la Chapelle syndrome
Delayed graft function after organ transplantation
Delayed membranous cranial ossification
Delayed-onset bone marrow failure – congenital neurologic abnormalities
Delayed speech – facial asymetry – strabismus – ear lobe creases
Deletion 11p
Deletion 11p11.2
Deletion 11p13
Deletion 12q14
Deletion 13q14 syndrome
Deletion 13q32
Délétion 13q32
Deletion 14qter
Deletion 15q26
Deletion 17q11
Deletion 18p-de Grouchy syndrome
Deletion 20p
Deletion 22q13
Deletion 2p21
Deletion 2q24
Deletion 2q37
Deletion 2q37-qter
Deletion 3q13
Deletion 3q27
Deletion 3q29
Deletion 4q
Deletion 4q32
Deletion 5p
Deletion 6q16 syndrome
Deletion 7q11.23
Deletion 8q24.1
Deletion Xq28
Delleman-Oorthuys syndrome
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Delta-sarcoglycanopathy
Dementia associated with a toxic disease
Dementia due to chronic hypovitaminosis
Dementia due to niacin deficiency
Dementia due to thiamin deficiency
Dementia, hereditary multi infarct type
Dementia Infantilis
Demodicidosis
De Morsier syndrome
Dendritic cell sarcoma, not otherwise specified
Dendritic cell tumor
DEND syndrome
Dengue
Dennis-Cohen syndrome
Dennis-Fairhurst-Moore syndrome
Dense (delta) granule disease
Dental ankylosis
Dentatorubral pallidoluysian atrophy
Dent disease, type 1
Dent disease, type 2
Dentin dysplasia
Dentin dysplasia – sclerotic bones
Dentin dysplasia, type I
Dentin dysplasia, type II
Dentinogenesis imperfecta
Dentinogenesis imperfecta , Shields type 2
Dentinogenesis imperfecta , Shields type 3
Dentinogenesis imperfecta – short stature – hearing loss – intellectual deficit
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Dentocutaneous disease with cataract
Dentoleukoencephalopathy
Dent syndrome
Denys-Drash syndrome
Depigmentation of the iris, acute, bilateral
der(22)t(11;22) syndrome
D’Ercole syndrome
Dercum’s disease
Der Kaloustian-Jarudi-Khoury syndrome
Der Kaloustian-McIntosh-Silver syndrome
Dermatitis herpetiformis
Dermato-cardio-skeletal syndrome, Borrone type
Dermatofibrosarcoma protuberans
Dermatofibrosis disseminated, with osteopoikilosis
Dermatoglyphics, absence of – congenital milia
Dermatoleukodystrophy
Dermatomyositis
Dermatoosteolysis, Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatostomatitis, Stevens Johnson type
Dermis disorder
Dermis elastic tissue disorder
Dermochondrocorneal dystrophy
Dermoid cyst of the face
Dermoid cyst of the neck
Dermo-odonto dysplasia
Dermopathy restrictive, lethal
De Sanctis-Cacchione syndrome
Desbuquois syndrome
DESC syndrome
De Smet-Fabry-Fryns syndrome
Desminopathy
Desmin-related myopathy with Mallory body-like inclusions
Desmoid disease
Desmoplastic small round cell tumor
Desmosterolosis
Desquamative interstitial pneumonia
DES syndrome
De Vaal disease
Devastating Epileptic encephalopathy in School-age Children
Developmental defect of the eye
Developmental delay – choreoathetosis – joint dislocation – lax skin
Developmental delay – deafness, Hildebrand type
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
Developmental delay – epilepsy – neonatal diabetes
Developmental delay – hypotonia – extremities hypertrophy
Developmental dysphasia familial
Developmental malformations – deafness – dystonia
Developmental verbal dyspraxia
Devic’s disease
Devriendt-Legius-Fryns syndrome
Devriendt-Vandenberghe-Fryns syndrome
Dexamethasone sensitive hypertension
Dextrocardia
Dextrocardia – bronchiectasis – sinusitis
DFSP
D-glycerate dehydrogenase deficiency
D-glycerate kinase deficiency
D-glycericacidemia
D+HUS
Diabetes – deafness, maternally inherited
Diabetes due to a genetic defect affecting insulin action
Diabetes due to a genetic defect of pancreatic beta-cell function
Diabetes – hypogonadism – deafness – intellectual deficit
Diabetes insipidus, central, congenital
Diabetes insipidus, nephrogenic
Diabetes insipidus, nephrogenic – intracranial calcification
Diabetes insipidus, non-acquired, central
Diabetes mellitus, neonatal
Diabetes mellitus, neonatal, permanent
Diabetes mellitus, neonatal, transient
Diabetes mellitus, permanent neonatal – pancreatic and cerebellar agenesis
Diabetes, neonatal – congenital hypothyroidism – congenital glaucoma – hepatic fibrosis – polycystic kidneys
Diabetic embryopathy
Dialysis-related arthropathy
Diaphanospondylodysostosis
Diaphragmatic agenesia
Diaphragmatic defect – limb deficiency – skull defect
Diaphragmatic hernia – abnormal face – distal limb anomalies
Diaphragmatic hernia, congenital
Diaphragmatic or abdominal wall malformation
Diaphragmatic spinal muscular atrophy
Diaphyseal dysplasic – anemia
Diaphyseal medullary stenosis – bone malignancy
Diaphyseal medullary stenosis – malignant fibrous histiocytoma
Diarrhea, chronic, due to glucoamylase deficiency
Diarrhea chronic with villous atrophy
Diarrhea, syndromic
Diarrhea-vomiting due to trehalase deficiency
Diastematomyelia
Diastrophic dwarfism
Diastrophic dysplasia
Dicarboxylicaminoaciduria
DI-CMT
Didelphys uterus
DIDMOAD syndrome (Diabetes Insipidus – Diabetes Mellitus – Optic Atrophy – Deafness)
Diencephalic syndrome
Diethylstilbestrol (DES) embryofetopathy
Diethylstilbestrol syndrome
Diffuse alveolar hemorrhage
Diffuse cutaneous systemic scleroderma
Diffuse cutaneous systemic sclerosis
Diffuse hyperinsulinism, diazoxide-resistant
Diffuse hyperinsulinism, diazoxide-sensitive
Diffuse large B-cell lymphoma
Diffuse leiomyomatosis – Alport syndrome X-linked
Diffuse lymphangioma
Diffuse lymphangiomatosis
Diffuse lymphatic malformation
Diffuse neonatal hemangiomatosis
Diffuse palmoplantar keratoderma – acrocyanosis
Diffuse palmoplantar keratoderma autosomal dominant without an associated disease
Diffuse palmoplantar keratoderma, Botnie type
Diffuse panbronchiolitis
DiGeorge sequence
DiGeorge syndrome
Digestive duplication
Digestive tract malformation
Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum
Digital arthropathy-brachydactyly, familial
Digitalis poisoning
Digitorenocerebral syndrome
Digitotalar dysmorphism
Dihtdropyrimidinase deficiency
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Dilated cardiomyopathy
Dilated cardiomyopathy – hypergonadotropic hypogonadism
Dilated cardiomyopathy with ataxia
Dincsoy-Salih-Patel syndrome
Dinno-Shearer-Weisskopf syndrome
Diomedi-Bernardi-Placidi syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
Diphallia
Diphosphoglycerate mutase deficiency of erythrocyte
Diphtheria
Diprosopia
Dipygus
DIRA
Dirofilariasis
DIS
Disaccharide intolerance
Discrete fibromuscular subaortic stenosis
Discrete fixed membranous subaortic stenosis
Disease-associated transverse myelitis
Disease predisposing to age-related macular degeneration
Disease with isotype or light chain deficiencies with normal numbers of B cells
Disease with potential neoplastic degeneration with an eye disease
Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
Disease with severe reduction in serum IgA and IgG with normal, low or very low numbers of B cells
disembarkment syndrome
Dislocation of the hip – dysmorphism
Disomy Y
Disorder in the hormonal synthesis with or without goiter
Disorder of sex development
Disorder of sex development – intellectual deficit
Disorder of sex development of endocrine origin
Disorder of sexual development 46,XY due to partial androgen insensitivity
Dissecting cellulitis of the scalp
Disseminated aseptic abscesses
Disseminated lympangioma
Disseminated lymphangiomatosis
Disseminated lymphatic malformation
Distal anterior compartment myopathy
Distal arthrogryposis
Distal asymmetrical inflammatory myopathy of the upper limbs
Distal deletion 10p
Distal deletion 10q
Distal deletion 11p
Distal deletion 11q
Distal deletion 12p
Distal deletion 12q
Distal deletion 13q
Distal deletion 13q34
Distal deletion 14q
Distal deletion 15q
Distal deletion 16p
Distal deletion 16q
Distal deletion 17q
Distal deletion 18q
Distal deletion 19p
Distal deletion 1p36
Distal deletion 1q
Distal deletion 20p
Distal deletion 20q
Distal deletion 21q
Distal deletion 22p
Distal deletion 22q
Distal deletion 2p
Distal deletion 2q
Distal deletion 3p
Distal deletion 3qter
Distal deletion 4p
Distal deletion 4q
Distal deletion 5q
Distal deletion 6p
Distal deletion 7p
Distal deletion 7q36
Distal deletion 8p
Distal deletion 8q
Distal deletion 9p
Distal deletion 9qter
Distal duplication 10p
Distal duplication 10q
Distal duplication 11p15
Distal duplication 11q
Distal duplication 12p
Distal duplication 12q
Distal duplication 13q
Distal duplication 14q
Distal duplication 15q
Distal duplication 16p
Distal duplication 16q
Distal duplication 17p
Distal duplication 17q
Distal duplication 18p
Distal duplication 18q
Distal duplication 19p
Distal duplication 19q
Distal duplication 1p36
Distal duplication 1q
Distal duplication 20p
Distal duplication 20q
Distal duplication 21q
Distal duplication 22q
Distal duplication 2p
Distal duplication 2q
Distal duplication 3p
Distal duplication 3q
Distal duplication 4p
Distal duplication 4q
Distal duplication 5p
Distal duplication 5q
Distal duplication 6p
Distal duplication 6q
Distal duplication 7p
Distal duplication 7q
Distal duplication 8p
Distal duplication 8q
Distal duplication 9q
Distal duplication Xp
Distal duplication Xq
Distal hereditary motor neuropathy
Distal hereditary motor neuropathy, Jerash type
Distal hereditary motor neuropathy, type 1
Distal hereditary motor neuropathy, type 2
Distal hereditary motor neuropathy, type 3 and type 4
Distal hereditary motor neuropathy, type 5
Distal hereditary motor neuropathy, type 7
Distal-HMN-1
Distal-HMN-2
Distal-HMN-3 and Distal-HMN-4
Distal-HMN-5
Distal-HMN-7
Distal HMN-J
Distal-HMN, type 6
Distal-HMN, X-linked
Distal monosomy 10p
Distal monosomy 10q
Distal monosomy 11p
Distal monosomy 11q
Distal monosomy 12p
Distal monosomy 12q
Distal monosomy 13q
Distal monosomy 14q
Distal monosomy 15q
Distal monosomy 16p
Distal monosomy 16q
Distal monosomy 17q
Distal monosomy 18q
Distal monosomy 19p13.3
Distal monosomy 1p36
Distal monosomy 1q
Distal monosomy 20p
Distal monosomy 20q
Distal monosomy 21q
Distal monosomy 22p
Distal monosomy 22q
Distal monosomy 2p
Distal monosomy 2q
Distal monosomy 3p
Distal monosomy 3q
Distal monosomy 4p
Distal monosomy 4q
Distal monosomy 5q
Distal monosomy 6p
Distal monosomy 7p
Distal monosomy 7q36
Distal monosomy 8p
Distal monosomy 8q
Distal monosomy 9p
Distal monosomy 9q34
Distal monosomy Xq
Distal myopathy
Distal myopathy, Markesbery-Griggs type
Distal myopathy, Nonaka type
Distal myopathy, Swedish type
Distal myopathy, Udd type
Distal myopathy, Welander type
Distal myopathy with anterior tibial onset
Distal myopathy with early respiratory muscle involvement
Distal myopathy with posterior leg and anterior upper limb involvement
Distal myopathy with rimmed vacuoles
Distal myopathy with vocal cord weakness
Distal osteolysis syndrome, autosomal recessive
Distal primary acidosis, familial
Distal spinal muscular atrophy
Distal tetrasomy 15q
Distal trisomy 10p
Distal trisomy 10q
Distal trisomy 11p15
Distal trisomy 11q
Distal trisomy 12p
Distal trisomy 12q
Distal trisomy 13q
Distal trisomy 14q
Distal trisomy 15q
Distal trisomy 16p
Distal trisomy 16q
Distal trisomy 17p
Distal trisomy 17q
Distal trisomy 18p
Distal trisomy 18q
Distal trisomy 19p
Distal trisomy 19q
Distal trisomy 1p36
Distal trisomy 1q
Distal trisomy 20p
Distal trisomy 20q
Distal trisomy 21q
Distal trisomy 22q
Distal trisomy 2p
Distal trisomy 2q
Distal trisomy 3p
Distal trisomy 3q
Distal trisomy 4p
Distal trisomy 4q
Distal trisomy 5p
Distal trisomy 5q
Distal trisomy 6p
Distal trisomy 6q
Distal trisomy 7p
Distal trisomy 7q
Distal trisomy 8p
Distal trisomy 8q
Distal trisomy 9q
Distal trisomy Xp
Distichiasis – congenital heart defects – peripheral vascular anomalies
Distilbene embryofetopathy
Distomatosis
DKC
DK phocomelia syndrome
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Dolicospondylic dysplasia
Donath-Landsteiner syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOOR syndrome
Doose syndrome
Dopamine beta-hydroxylase deficiency
Dorfman-Chanarin disease
DORV
DORV, Fallot type
Double aortic arch
Double aortic arch, encircling
Double discordance
Double nose
Double outlet left ventricle
Double outlet right ventricle
Double outlet right ventricle, Fallot type
Double outlet right ventricle with doubly committed ventricular septal defect
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Double outlet right ventricle with subaortic ventricular septal defect
Double outlet right ventricle with subpulmonary ventricular septal defect
Double tachycardia induced by catecholamines
Double uterus – hemivagina – renal agenesis
Double y
Doughnut lesions of skull, familial form
Dowling-Degos disease
Down syndrome
Doyne honeycomb retinal dystrophy (DHRD)
Drachtman-Weinblatt-Sitarz syndrome
Dracunculiasis
Drash syndrome
Dravet syndrome
DRESS syndrome
Drug-induced localized lipodystrophy
Drug rash with eosinophilia and systemic symptoms
Drugs with membrane-stabilizing effect, acute poisoning by
Drummond syndrome
Drusen dominant
DSD
DTDP1
DTDP2
Duane anomaly – myopathy – scoliosis
Duane-radial ray syndrome
Duane syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne and Becker dystrophinopathy
Duchenne and Becker muscular dystrophy
Duchenne dystrophinopathy
Duker-Weiss-Siber syndrome
Dunnigan syndrome
Duodenal and extrahepatic biliary atresia – hypoplastic pancreas – intestinal malrotation
Duodenal atresia
Du Pan syndrome
Duplication 12p
Duplication 13p
Duplication 17p11.2
Duplication 18p
Duplication 22q11
Duplication 4p
Duplication 4q
Duplication 4q25 qter
Duplication 5p
Duplication 7q11
Duplication 8q/deletion 8p
Duplication 9p
Duplication, chromosome 18
Duplication cyst of the tongue, digestive
Duplication cyst of the tongue, enteric
Duplication cyst of the tongue, foregut
Duplication cyst of the tongue, gastric
Duplication/inversion 15q11
Duplication of the esophagus
Duplication of urethra
Duplication Xp11.22-p11.23
Duplication Xp3
Duplication xpter xq13
Dupuytren contracture, familial
Dural arteriovenous fistula, cranial
Dural sinus malformation, cranial
Durhing-Brocq disease
Dwarfism – intellectual deficit – eye abnormality
Dwarfism – stiff joint – ocular abnormalities
Dwarfism syndesmodysplasic
Dwarfism – tall vertebrae
Dwarfism – thin bones – multiple fractures
Dyggve-Melchior-Clausen disease
Dykes-Markes-Harper syndrome
Dyschondrosteosis – nephritis
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis
Dysequilibrium syndrome
Dyserythropoietic anemia, congenital
Dyserythropoietic anemia, congenital, type I
Dyserythropoietic anemia, congenital, type II
Dyserythropoietic anemia, congenital, type III
Dyserythropoietic anemia with thrombocytopenia
Dysferlinopathy
Dysgenetic 46,XY disorder of sex development
Dysgerminoma
Dysgerminomatous germ cell cancer
Dysharmonic skeletal maturation – muscular fibre disproportion
Dyskeratosis congenita
Dyskinesia, paroxysmal
Dyskinesia, paroxysmal exertion-induced
Dyskinesia, paroxysmal hypnogenic
Dyskinesia, paroxysmal kinesigenic
Dyskinesia, paroxysmal non-kinesigenic
Dysmorphism – arthrogryposis – skeletal maturation, advanced
Dysmorphism – cleft palate – loose skin
Dysmorphism – multiple structural anomalies
Dysmorphism – pectus carinatum – joint laxity
Dysmorphism – short stature – deafness – disorder of sex development
Dysmorphism – short stature – deafness – pseudohermaphroditism
Dysmorphologic diseases with phakomatosis
Dysosteosclerosis
Dysostosis multiplex
Dysostosis peripheral
Dysostosis, Stanescu type
Dysostosis with predominant craniofacial involvement
Dysostosis with predominant vertebral and costal involvement
Dysphagia lusoria
Dysphasia
Dysphasia, FOXP2-associated
Dysphasic dementia, hereditary
Dysplasia epiphysealis hemimelica
Dysplasia gigantism syndrome, X-linked (DGSX)
Dysplasia, mandibuloacral
Dysplasia, mandibuloacral with type A lipodystrophy
Dysplasia, mandibuloacral with type B lipodystrophy
Dysplasia of bones with multiple joint dislocations
Dysplasia of head of femur, Meyer type
Dysplastic cortical hyperostosis
Dysplastic gangliocytoma of the cerebellum
Dysplastic nevus
Dysprothrombinemia
Dysraphism – cleft lip/palate – limb reduction defects
Dyssegmental dysplasia – glaucoma
Dyssegmental dysplasia Rolland-Desbuquois type
Dyssegmental dysplasia, Silverman-Handmaker type
Dysspondyloenchondromatosis
Dystonia 12
Dystonia 14
Dystonia 16
Dystonia 18
Dystonia as a feature of other dyskinetic disease
Dystonia associated with a heredodegenerative disease
Dystonia associated with a heredodegenerative disease with a sporadic or with undefined inheritance
Dystonia associated with a heredodegenerative disease with defined inheritance
Dystonia associated with a heredodegenerative disease with multiple forms of inheritance
Dystonia associated with a mitochondrial heredodegenerative disease
Dystonia associated with an autosomal dominant heredodegenerative disease
Dystonia associated with an autosomal recessive heredodegenerative disease
Dystonia associated with a X-linked heredodegenerative disease
Dystonia, dopa-responsive
Dystonia, dopa-responsive, autosomal dominant
Dystonia, dopa-responsive, autosomal recessive
Dystonia-like syndrome
Dystonia-like syndrome with paroxysmal disease
Dystonia-mimicking condition
Dystonia, mixed
Dystonia musculorum deformans
Dystonia-parkinsonism, Paisan-Ruiz type
Dystonia-parkinsonism, X-linked
Dystonia-plus syndrome
Dystonia, primary, DYT13 type
Dystonia, primary, DYT6 type
Dystroglycanopathy
Dystrophinopathy
DYT1
DYT11
DYT12
DYT13
DYT14
DYT15
DYT16
DYT18
DYT2
DYT3
DYT4
DYT5
DYT5a
DYT6
DYT7
DYT9

D İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

E İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

E1 deficiency
E2 deficiency
E3 deficiency
Eagle-Barret syndrome
Eales disease
Earlobes, thickened – conductive deafness
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression-bursts
Early myoclonic encephalopathy
Early myoclonic encephalopathy with suppression-bursts
Early-onset ataxia with dementia
Early-onset autosomal dominant Alzheimer disease
Early onset benign childhood occipital epilepsy
Early-onset desmin-related myopathy
Early-onset familial autosomal dominant Alzheimer disease
Early-onset hypertension with exacerbation in pregnancy
Early-onset sarcoidosis
Early onset torsion dystonia
Ear-patella-short stature syndrome
Eastern equine encephalitis
Eastern equine encephalomyelitis
EBD
EBJ
Ebola virus disease
EBS
EBS-MD
Ebstein anomaly
Echinocytic disorder
ECO syndrome
ECP syndrome
Ectodermal dysplasia – absent dermatoglyphs
Ectodermal dysplasia – acanthosis nigricans
Ectodermal dysplasia – adrenal cyst
Ectodermal dysplasia – anhidrotic, with immunodeficiency – osteopetrosis – lymphedema
Ectodermal dysplasia anhidrotic, X linked
Ectodermal dysplasia – arthrogryposis – diabetes mellitus
Ectodermal dysplasia, Berlin type
Ectodermal dysplasia – blindness
Ectodermal dysplasia – cataracts – kyphoscoliosis
Ectodermal dysplasia due to a developmental anomaly
Ectodermal dysplasia – ectrodactyly – macular dystrophy
Ectodermal dysplasia, euhidrotic
Ectodermal dysplasia, hidrotic
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Ectodermal dysplasia, hidrotic, Halal type
Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic – hypothyroidism – ciliary dyskinesia
Ectodermal dysplasia hypohidrotic X linked
Ectodermal dysplasia – intellectual deficit – central nervous system malformation
Ectodermal dysplasia – osteosclerosis
Ectodermal dysplasia, ”pure” hair-nail type
Ectodermal dysplasia, Rapp-Hodgkin type
Ectodermal dysplasia – sensorineural deafness
Ectodermal dysplasia – skin fragility syndrome
Ectodermal dysplasia syndrome
Ectodermal dysplasia syndrome, Rapp-Hodgkin type
Ectodermal dysplasia, tricho-odonto-onychial type
Ectodermal dysplasia with a defect in developemental regulation/epithelial-mesenchymal interaction
Ectodermal dysplasia with adhesion anomaly
Ectodermal dysplasia with a DNA replication, repair and recombination helicase anomaly
Ectodermal dysplasia with a major skeletal involvement
Ectodermal dysplasia with an abdnormal immune response or functional abnormalities of the central nervous system
Ectodermal dysplasia with an endocrine defect
Ectodermal dysplasia with an extracellular matrix protein anomaly
Ectodermal dysplasia with an odonto-dyshidrotic anomaly
Ectodermal dysplasia with an odonto-onychial anomaly
Ectodermal dysplasia with an onychio-dyshidrotic anomaly
Ectodermal dysplasia with a odonto-onycho-dyshidrotic anomaly
Ectodermal dysplasia with a retinal degeneration
Ectodermal dysplasia with a telomerase ribonucleoprotein component anomaly
Ectodermal dysplasia with a tricho-dyshidrotic anomaly
Ectodermal dysplasia with a trichoodontic anomaly
Ectodermal dysplasia with a tricho-odonto-dyshidrotic anomaly
Ectodermal dysplasia with a tricho-odonto-onychial anomaly
Ectodermal dysplasia with a tricho-odonto-onycho-dyshidrotic anomaly
Ectodermal dysplasia with a trichoonychial anomaly
Ectodermal dysplasia with a tricho-onycho-dyshidrotic anomaly
Ectodermal dysplasia with cell-cell communication and signalling anomalies
Ectodermal dysplasia with cleft lip/palate
Ectodermal dysplasia with cytoskeleton maintainance and cell stability anomalies
Ectodermal dysplasia with deafness or a corneal anomaly
Ectodermal dysplasia with hyperkeratosis and keratoderma
Ectodermal dysplasia with major ectodermal derivative involvement
Ectodermal dysplasia with natal teeth, Turnpenny type
Ectodermal malformation syndrome with an eye disease
Ectodermic dysplasia, anhidrotic – cleft lip/palate
Ectopia lentis – chorioretinal dystrophy – myopia
Ectopia lentis isolated
Ectopic neurohypophysis
Ectopic neurohypophysis, without associated malformations
Ectopic ossification, familial type
Ectrodactyly
Ectrodactyly – cleft palate
Ectrodactyly – ectodermal dysplasia – cleft lip palate
Ectrodactyly – ectodermal dysplasia without clefting
Ectrodactyly – polydactyly
Ectrodactyly – spina bifida – cardiopathy
Ectropion inferior – cleft lip and or palate
Ectropion uveae, congenital
Eczema-thrombocytopenia-immunodeficiency syndrome
Edinburgh malformation syndrome
EDMD
EDS I
EDS III
EDS IV
Edström Myopathy
EDS V
EDS VI
EDS VII
EDS VII C
EDS VIII
EDS with periventricular heterotopia
EDS X
EDS XI
Edwards-Patton-Dilly syndrome
Edwards syndrome
Edward syndrome
EEC syndrome
EEC syndrome and related syndrome
EEC syndrome without cleft lift/palate
EEM syndrome
EGE
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, arthrochalasic type
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, fibronectin-deficient
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome, hypermobile type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos, syndrome, periodontitis type
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylocheiro dysplastic type
Ehlers-Danlos syndrome, type 1
Ehlers-Danlos syndrome, type 10
Ehlers-Danlos syndrome, type 11
Ehlers-Danlos syndrome, type 2
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 4
Ehlers-Danlos syndrome, type 5
Ehlers-Danlos syndrome, type 6
Ehlers-Danlos syndrome, type 6A
Ehlers-Danlos syndrome, type 6B
Ehlers-Danlos syndrome, type 7
Ehlers-Danlos syndrome, type 7A
Ehlers-Danlos syndrome, type 7B
Ehlers-Danlos syndrome, type 7C
Ehlers-Danlos syndrome, type 8
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, X-linked
Ehrlichiosis
Eiken syndrome
Eisenmenger syndrome
Elastosis perforans serpiginosa
Electron Transfer Flavoprotein, deficiency of
Electron Transfer Flavoprotein Ubiquinone Oxydoreductase, deficiency of
Elejalde syndrome
Elliptocytosis, common, hereditary
Elliptocytosis, hereditary
Elliptocytosis, homozygous, hereditary
Elliptocytosis, spherocytic
Ellis Van Creveld syndrome
Ellis-Yale-Winter syndrome
Elsching syndrome
Emanuel syndrome
Embryonal carcinoma
Embryonal carcinoma, intracranial
Embryonal rhabdomyosarcoma
Embryonal sarcoma of the liver
Embryonary disorganization syndrome
EMEA
Emerinopathy
Emerinopathy
Emery-Dreifuss muscular dystrophy
Emery-Nelson syndrome
Encephalitis
Encephalitis, acute disseminated
Encephalitis lethargica
Encephalocele
Encephalocele anterior
Encephalocele frontal
Encephalocraniocutaneous lipomatosis
Encephalomyelitis, acute disseminated
Encephalomyopathy, mitochondrial, Ghezzi-Zeviani type
Encephalopathy-basal ganglia-calcification
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Encephalopathy due to GLUT1 deficiency
Encephalopathy due to hydroxykynureninuria
Encephalopathy due to prosaposin deficiency
Encephalopathy due to sulfite oxidase deficiency
Encephalopathy due to urocanase deficiency
Encephalopathy, ethylmalonic
Encephalopathy – intracerebral calcification – retinal degeneration
Encephalopathy progressive – optic atrophy
Encephalopathy subacute spongiform, Gerstmann-Straussler type
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Encephalopathy with neuroserpin inclusion bodies, familial form
Encephalophathy recurrent of childhood
Enchondroma, cervicofacial
Enchondromatosis
Endocrine-cerebro-osteodysplasia syndrome
Endocrine disease with cardiomyopathy
Endocrine myopathy
Endocrine tumor
Endocrinopathy with diabetes
Endodermal sinus tumor
Endometrial adenoid cystic carcinoma
Endometrial capillary carcinoma
Endometrial squamous cell carcinoma
Endometrial stromal sarcoma
Endometrial transitional cell carcinoma
Endometrial undifferentiated carcinoma
Endomyocardial disease with cardiomyopathy
Endomyocardial fibroelastosis
Endophthalmitis
Endosteal hyperostosis, Worth type
Endosteal sclerosis – cerebellar hypoplasia
Endothelial dystrophy, congenital, hereditary
Endotheliitis
Energy metabolism disorder
Engelhard-Yatziv syndrome
Eng-Strom syndrome
Enhanced S-cone syndrome
Enolase deficiency
Enolase deficiency, type 1
Enolase deficiency, type 2
Enolase deficiency, type 3
Enolase deficiency, type 4
Enteric anendocrinosis
Enterocyte heparan sulfate deficiency, congenital
Enteropancreatic endocrine tumor
Enteropathy, severe, immune-mediated
Enteropathy-type T-cell lymphoma
Enterovirus antenatal infection
Enterovirus infection, congenital
Envenomization by bothrops lanceolatus
Envenomization by the Martinique lancehead viper
EOFAD
Eosinophilic cellulitis
Eosinophilic endocarditis
Eosinophilic esophagitis
Eosinophilic fasciitis
Eosinophilic gastroenteritis
Eosinophilic granuloma
Eosinophilic lymphogranuloma
Eosinophilic pneumonia
Eosinophilic pneumonia, acute, idiopathic
Eosinophilic pneumonia, chronic, idiopathic
Ependymoma
Epicanthal fold
Epidemic typhus
Epidermal appendage anomaly
Epidermal disease
Epidermal hamartoma syndrome
Epidermal nevus syndrome
Epidermal nevus – vitamin D resistant rickets
Epidermolysis bullosa
Epidermolysis bullosa, acantholytic, lethal
Epidermolysis bullosa, acquired
Epidermolysis bullosa, dermolytic
Epidermolysis bullosa, dystrophic
Epidermolysis bullosa, dystrophic, autosomal recessive, Hallopeau-Siemens type
Epidermolysis bullosa, dystrophic, autosomal recessive, non-Hallopeau-Siemens type
Epidermolysis bullosa, dystrophic, centripetal
Epidermolysis bullosa, dystrophic, centripetalis
Epidermolysis bullosa, dystrophic, inversa
Epidermolysis bullosa, dystrophic, pretibial
Epidermolysis bullosa, dystrophic, pruriginous
Epidermolysis bullosa, epidermolytic
Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, inversa
Epidermolysis bullosa, junctional, late-onset
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional – pyloric atresia
Epidermolysis bullosa, localized jonctional, late-onset – intellectual deficit
Epidermolysis bullosa, simplex
Epidermolysis bullosa simplex, autosomal recessive
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex, Köbner type
Epidermolysis bullosa simplex – limb girdle muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex – pyloric atresia
Epidermolysis bullosa simplex superficialis
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolytic hyperkeratosis
Epignathus
Epilepsy, benign familial infantile
Epilepsy, benign familial neonatal
Epilepsy, benign neonatal-infantile
Epilepsy, benign occipital
Epilepsy, childhood absence
Epilepsy – dementia – amelogenesis imperfecta
Epilepsy, female restricted, with intellectual deficit
Epilepsy, generalized – paroxysmal dyskinesia
Epilepsy, lateral temporal lobe, autosomal dominant
Epilepsy, mesial temporal, familial, benign
Epilepsy, mesial temporal, familial, with febrile seizures
Epilepsy – microcephaly – skeletal dysplasia
Epilepsy, nocturnal, frontal lobe type
Epilepsy, partial, familial
Epilepsy, partial, with auditory aura
Epilepsy, partial, with auditory features
Epilepsy, progressive myoclonic type 1
Epilepsy progressive myoclonic type 2
Epilepsy, pyridoxin-dependent
Epilepsy telangiectasia
Epilepsy with less specific age relationship
Epilepsy with myoclonic absences
Epilepsy with myoclonic-astatic seizures
Epilepsy, X-linked – learning disabilities – behavior disorders
Epileptic syndrome
Epimetaphyseal skeletal dysplasia
Epiphyseal dysplasia – hearing loss – dysmorphism
Epiphyseal dysplasia, localized
Epiphyseal dysplasia – microcephaly – nystagmus
Epiphyseal dysplasia multiple
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Epiphyseal stippling syndrome – osteoclastic hyperplasia
Episodic ataxia, type 2
Episodic ataxia type 5
Episodic ataxia type 6
Episodic ataxia type 7
Episodic ataxia with myokymia
Episodic choreoathetosis/spasticity
Epispadias
Epithelio-exfoliative colitis – deafness
Epithelioid hemangioendothelioma
Epithelioma calcificans of Malherbe
Epithelioma, self-healing squamous, 1
Epstein-Barr virus infection, congenital
Epstein syndrome
Epulis, congenital
ERA
Erdheim-Chester disease
Erdheim disease
Ermine phenotype
Eroded polypoid hyperplasia
Eronen-Somer-Gustafsson syndrome
Erosive pustular dermatosis of the scalp
Erythema elevatum diutinum
Erythrocyte lactate transporter defect
Erythrocyte nucleotide metabolism disorder
Erythrocytosis
Erythroderma, congenital ichthyosiform, bullous
Erythroderma, congenital ichthyosiform, nonbullous
Erythroderma desquamativa
Erythroderma, lethal, congenital
Erythrokeratoderma
Erythrokeratoderma “en cocardes”
Erythrokeratodermia ataxia
Erythrokeratodermia, progressiva symmetrica
Erythrokeratodermia, progressive symmetric
Erythrokeratodermia variabilis, Mendes da Costa type
Erythromelalgia
Escher-Hirt syndrome
Escobar syndrome
Esophageal adenocarcinoma
Esophageal atresia
Esophageal carcinoma
Esophageal diverticulum, congenital
Esophageal duplication cyst
Esophageal malformation
Esophageal squamous cell carcinoma
ESS1
Essential cryoglobulinemia
Essential iris atrophy
Essential osteolysis
Essential strabismus
Esthesioneuroblastoma
Estrogen resistance syndrome
ETFA deficiency
ETFB deficiency
ETFDH deficiency
Ethylene glycol poisoning
Ethylmalonic aciduria
Eunuchoidism familial
Eustachian valve, persistent
Evans syndrome
Ewing sarcoma
Excess breast volume or number
Excessive growth – learning disabilities – facial dysmorphism
Excretory apparatus of the lacrymal system anomaly
Exencephaly
Exner syndrome
Exocrine pancreatic disease with diabetes
Exomphalos – macroglossia – gigantism
Exostose -anetodermia – brachydactyly type E
Exostoses, multiple
Expansile osteolysis, familial form
Exstrophy-epispadias complex
Exsudative retinopathy familial, autosomal dominant
Exsudative retinopathy familial, autosomal recessive
Exsudative retinopathy, familial, X-linked, recessive
Extensor tendons of finger anomalies
External auditory canal aplasia/hypoplasia
External auditory canal stenosis/atresia
External or internal genital malformation
Extracutaneous mastocytoma
Extramedullary myeloid tumor
Extramedullary (soft tissue) plasmacytoma
Extraneural perineurioma
Extranodal NK/T cell lymphoma, nasal type
Extraskeletal myxoid chondrosarcoma
Extrasystoles – short stature – hyperpigmentation – microcephaly
Extrinsic allergic alveolitis
Exudative retinopathy, familial
Eyebrow duplication – syndactyly
Eyebrow/eyelashes distichiasis
Eyebrow/eyelashes hypertrichosis
Eyebrow/eyelashes pigmentation anomaly
Eyebrow/eyelashes structural anomaly
Eyebrow hypertrophy
Eyebrows and eyelashes absence – intellectual deficit
Eye defects – arachnodactyly – cardiopathy
Eyelashes hypertrophy
Eyelashes long – intellectual deficit
Eyelashes polytrichia
Eyelashes trichomegalia
Eyelid border anomaly
Eyelid malformation
Eyelid myoclonia with and without absences
Eyelids malposition disorder

E İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

F İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

Fabry disease
Faces syndrome
Facial arteriovenous malformation
Facial asymmetry – temporal seizures
Facial cleft
Facial cleft, midline
Facial dermoid cyst
Facial dysmorphism – ambiguous genitalia – hypopituitarism – short limbs
Facial dysmorphism – intellectual deficit – short stature – hearing loss
Facial dysmorphism – macrocephaly – myopia – Dandy-Walker malformation
Facial dysmorphism -shawl scrotum – joint laxity
Facial ectodermal dysplasia
Facial onset sensory and motor neuronopathy
Facial paresis, partial unilateral
Facio-audio-symphalangism
Facioauriculovertebral dysplasia
Faciocardiomelic dysplasia, lethal
Faciocardiorenal syndrome
Faciocutaneoskeletal syndrome
Faciodigitogenital syndrome
Facio-digito-genital syndrome, recessive form
Facio-genito-popliteal syndrome
Facio-oculo-acoustico-renal syndrome
Facio-oculo-acoustico-renal syndrome
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular myopathy
Facio-skeletal-genital syndrome, Rippberger type
Facio-thoraco-genital syndrome
Factor IX deficiency
Factors II,VII,IX and X, combined deficiency of
Factor VIII deficiency
Factor V Quebec
Fahr syndrome
Failure of teeth eruption
Fallot complex – intellectual deficit – growth delay
Familial adenomatous polyposis
Familial afibrinogenemia
Familial Alzheimer disease
Familial amyloidosis, Finnish type
Familial amyloidosis, renal
Familial amyloid polyneuropathy
Familial amyloid polyneuropathy, type 4
Familial angiolipomatosis
Familial aortic dissection
Familial arrhythmogenic right ventricular cardiomyopathy
Familial arrhythmogenic right ventricular dysplasia
Familial ARVC
Familial ARVD
Familial caudal dysgenesis
Familial CD8 deficiency
Familial cold autoinflammatory syndrome
Familial cold urticaria
Familial cystic renal disease
Familial dementia, British type
Familial dementia, Danish type
Familial dilated cardiomyopathy
Familial dysautonomia
Familial dysfibrinogenemia
Familial epileptic syndrome, idiopathic or cryptogenic, with identifyied loci/genes
Familial erythrocytosis
Familial hematuria, autosomal dominant – retinal arteriolar tortuosity – contractures
Familial hemophagocytic lymphohistiocytosis
Familial hyperalphalipoproteinemia
Familial hyperestrogenism
Familial hyperreninemic hypoaldosteronism type 1
Familial hyperreninemic hypoaldosteronism type 2
Familial hypertriglyceridemia
Familial hypertrophic cardiomyopathy
Familial hypertrophic obstructive cardiomyopathy
Familial hypertrophic subaortic stenosis
Familial hypoalphalipoproteinemia
Familial hypofibrinogenemia
Familial hypomagnesemia – hypercalciuria – nephrocalcinosis – severe ocular involvement
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Familial idiopathic dilatation of the right atrium
Familial intestinal polyatresia syndrome
Familial iron overload
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia
Familial isolated ARVC
Familial isolated ARVD
Familial isolated dilated cardiomyopathy
Familial isolated hypertrophic cardiomyopathy
Familial isolated hypertrophic obstructive cardiomyopathy
Familial isolated hypertrophic subaortic stenosis
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial isolated vitamin E deficieny
Familial joint instability syndrome
Familial juvenile gouty nephropathy
Familial juvenile hyperuricemic nephropathy
Familial LCAT deficiency
Familial leiomyomatosis with renal carcinoma
Familial mediterranean fever
Familial mediterranean fever with pediatric onset
Familial multiple coagulation factor deficiency
Familial multiple cutaneous leiomyomas
Familial multiple lipomatosis
Familial nasal acilia
Familial nephropathy with gout
Familial non-immune hyperthyroidism
Familial or idiopathic dilated cardiomyopathy
Familial or idiopathic hypertrophic subaortic stenosis
Familial ovarian cancer
Familial ovarian malignant tumor
Familial palmoplantar keratoderma
Familial Parathyroid adenoma
Familial partial epilepsy with variable focus
Familial partial lipodystrophy
Familial patella aplasia-hypoplasia
Familial patent arterial duct
Familial pelvis-scapular dysplasia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial rectal pain
Familial recurrent arthritis (FRA)
Familial recurrent peripheral facial palsy
Familial restrictive cardiomyopathy
Familial restrictive cardiomyopathy type 3
Familial scaphocephaly – radioulnar synostosis
Familial scaphocephaly syndrome
Familial scaphocephaly syndrome, McGillivray type
Familial spastic paraplegia
Familial spastic paraplegia, complex form
Familial spastic paraplegia, pure form
Familial supernumerary nipples
Familial symmetric lipomatosis
Familial thyroglossal duct cyst
Familial thyroid follicular cell carcinoma
Familial trembling of the chin
Familial visceral myopathy
Familial woolly hair syndrome
Familila or idiopathic hypertrophic obstructive cardiomyopathy
Fanconi anemia
Fanconi-Bickel disease
Fanconi ichthyosis dysmorphism
Fanconi pancytopenia
Fanconi syndrome, myeloma associated
Fanconi syndrome, renal, with nephrocalcinosis and renal stones
Fantasy Island syndrome
FAP
Fara-Chlupackova syndrome
Farber lipogranulomatosis
Farmer’s lung disease
FAS deficiency
FASPS
Fatale infantile encephalopathy, with mitochondrial respiratory chain defects
Fatal infantile COX deficiency
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile encephalopathy, with mitochondrial respiratory chain defects
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Fatty acid alcohol oxydoreductase deficiency
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Fatty acid oxidation or ketogenesis disorder
Faulk-Epstein-Jones syndrome
Favism
Fazio-Londe disease
FCAS
FCD, epilepsy, due to
FCS syndrome
FCU
Febrile neutrophilic dermatosis, acute
Fechtner syndrome
Feigenbaum-Bergeron-Richardson syndrome
Feingold syndrome
Feingold-Trainer syndrome
Felty syndrome
Female pseudohermaphrodism
Female pseudohermaphrodism – anorectal anomalies
Female pseudohermaphroditism androgen-induced of maternal origin
Femoral hypoplasia – unusual facies syndrome
Femur bifid – monodactylous – ectrodactyly
Femur-fibula-ulna complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
FENIB
Fenton-Wilkinson-Toselano syndrome
FEOM
Ferlini-Ragno-Calzolari syndrome
Fernhoff-Blackston-Oakley syndrome
Ferrocalcinosis cerebro vascular
Ferroportin disease
Fetal acitretin syndrome
Fetal akinesia sequence
Fetal alcohol syndrome
Fetal aminopterin syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal brain disruption sequence
Fetal cocaine syndrome
Fetal cytomegalovirus syndrome
Fetal dihydantoin syndrome
Fetal edema
Fetal face syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal iodine syndrome
Fetal left ventricular aneurysm
Fetal methyl mercury syndrome
Fetal minoxidil syndrome
Fetal-onset olivopontocerebellar hypoplasia
Fetal ovarian cyst
Fetal parvovirus syndrome
Fetal thalidomide syndrome
Fetal trimethadione syndrome
Fetal valproic syndrome
Fetal varicella syndrome
Fetal warfarin syndrome
Feto-fetal transfusion syndrome
Fever-induced resistant epilepsy in school-age children
FFDD, type I
FG syndrome
FG syndrome, type 1
FHHA1
FHHA2
Fibrillary glomerulopathy, nonamyloid
Fibrinogen A-alpha, amyloidosis
Fibrin-stabilizing factor deficency
Fibrocalculous pancreatopathy
Fibrochondrogenesis
Fibrochondroma, cervicofacial
Fibrodysplasia ossificans progressiva
Fibrofolliculomas with trichodiscomas and acrochordons
Fibromatosis, gingival – hepatosplenomegaly – other anomalies
Fibromatosis, multiple, non ossifying
Fibromuscular dysplasia of arteries
Fibromyalgia
Fibronectin glomerulopathy
Fibrosarcoma
Fibrosing mediastinitis
Fibrous dysplasia of bone
Fibular aplasia – complex brachydactyly
Fibular aplasia – ectrodactyly
Fibular dimelia – diplopodia
Fibular hemimelia
Fibular hypoplasia or aplasia – femoral bowing – oligodactyly
Fibulo-ulnar hypoplasia – renal anomalies
Fiessinger-Leroy disease
Fiessinger-Leroy-Reiter’s syndrome
Figuera syndrome
Filariasis
Filippi syndrome
Fine-Lubinsky syndrome
Fingerprint body myopathy
Fingerprints, absence of – milia, congenital
Finlay-Markes syndrome
Finnish congenital nephrosis
Finucane-Kurtz-Scott syndrome
FIRES
First brachial arch syndrome
First branchial cleft cyst
First branchial cleft fistula
Fisher syndrome
Fish-eye disease
Fish-odor syndrome
Fistulous vegetative verrucous hydradenoma
Fitzsimmons-Guilbert syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Fitzsimmons-Walson-Mellor syndrome
Fixed subaortic stenosis
FJHN
Flat face – microstomia – ear anomaly
Flegel disease
Floating-Harbor syndrome
Florid cemento-osseous dysplasia
Florid osseous dysplasia
FLOTCH syndrome
Flynn-Aird syndrome
Foamy myocardial transformation of infancy
Focal alopecia congenital megalencephaly
Focal cemento-osseous dysplasia
Focal cortical dysplasia
Focal dermal hypoplasia
Focal dystonia
Focal Dystonia, autosomal dominant, DYT7
Focal facial dermal dysplasia
Focal facial dermal dysplasia, type 2
Focal myositis
Foix-Alajouanine syndrome
Foix-Chavany-Marie syndrome
Folate malabsorption, congenital
Folate malabsorption, hereditary
Folate-related megaloblastic anemia
Folinic acid-responsive seizures
Follicle stimulating hormone (FSH) deficiency, isolated
Follicular atrophoderma-basal cell carcinoma
Follicular dendritic cell sarcoma
Follicular dyskeratoma
Follicular hamartoma alopecia cystic fibrosis
Follicular ichthyosis
Follicular lymphoma
Follicular stimulating hormone-resistant ovaries (FSH-RO)
Folliculitis ulerythematosa reticulate
Folliculotropic mycosis fungoides
FOP
Foramina parietalia permagna
Formiminoglutamic aciduria
Formiminotransferase glutamate deficiency
Forney-Robinson-Pascoe syndrome
Forsius-Eriksson syndrome
FOSMN syndrome
Fountain syndrome
Fourth branchial cleft cyst
Fourth branchial cleft fistula
Foveal dystrophy, progressive
Foveal hypoplasia – presenile cataract
Foveomacular vitelliform dystrophy, adult-onset
Fowler-Christmas-Chapple syndrome
FPS/AML syndrome
Fragile X-associated tremor/ataxia syndrome
Fragile X syndrome
Fragoso-Cid-Garcia-Hernandez syndrome
Franceschetti-Klein syndrome
François dyscephalic syndrome
Francois syndrome
Franek-Bocker-Kahlen syndrome
Franklin disease
Frank-Ter Haar syndrome
Fraser-like syndrome
Fraser syndrome
Frasier syndrome
FRAXA syndrome
FRAXE syndrome
FRAXF syndrome
Fra-X syndrome
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome variant
Free sialic acid storage disease
Freire Maia-Pinheiro-Opitz syndrome
Freire-Maia syndrome
Frias syndrome
Frieddman-Goodman syndrome
Fried-Goldberg-Mundel syndrome
Friedreich ataxia
Fried syndrome
Fröhlich syndrome
Fronto-facio-nasal dysostosis
Frontofacionasal dysplasia
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia, acromelic
Frontonasal dysplasia – Klippel-Feil syndrome
Frontotemporal degeneration with dementia
Frontotemporal dementia
Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
Frontotemporal dementia lacking distinctive histopathology
Frontotemporal dementia with motor neuron-disease type inclusions
Frontotemporal dementia with neurofilament-positive inclusions
Frontotemporal dementia with tau inclusions
Froster-Huch syndrome
Froster-Iskenius-Waterson syndrome
Fructokinase deficiency
Fructose-1,6-bisphosphatase deficiency
Fructose-1-phosphate aldolase deficiency, hereditary
Fructose intolerance
Fructosemia, hereditary
Fructosuria
Frydman-Cohen-Karmon syndrome
Fryns-Aftimos syndrome
Fryns-Hofkens-Fabry syndrome
Fryns macrocephaly
Fryns-Smeets-Thiry syndrome
Fryns syndrome
F syndrome
FTDP-17
Fucosidosis
Fuhrmann-Rieger-de Sousa syndrome
Fuhrmann syndrome
Fukuda-Miyanomae-Nakata syndrome
Fukuhara syndrome
Fumarase deficiency
Fumaric aciduria
Fumarylacetoacetase deficiency
Fundus albipunctatus
Fundus flavimaculatus
Fundus pulverulentus
Fungal myositis
Fuqua-Berkovitz syndrome
Furlong syndrome
Furukawa-Takagi-Nakao syndrome
Furuncular myiasis
Furunculoid myiasis
Furunculous myiasis
Fused cervical segments, congenital
Fused mandibular incisors
FV and FVIII combined deficiency
FXTAS syndrome

F İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

G İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

G6PD deficiency
GABA metabolism disorder
Gaba transaminase deficiency
Gaisbock syndrome
Galactocerebrosidase deficiency
Galactokinase deficiency
Galactosamine-6-sulfatase deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia
Galactose or fructose metabolism disorder
Galactosialidosis
Galactosyltransferase I deficiency
Galloway-Mowat syndrome
Galloway syndrome
Gamborg-Nielsen syndrome
Game-Friedman-Paradice syndrome
Gamma-A-globulin, selective deficiency of
Gamma aminobutyric acid transaminase deficiency
Gamma-cystathionase deficiency
Gamma-glutamyl cycle disorder
Gamma-glutamylcysteine synthetase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma heavy-chain disease
Gamma-sarcoglycanopathy
Gamstorp episodic adynamy
GAMT deficiency
Gangliosidosis GM1, type 1
Gangliosidosis GM1, type 2
Gangliosidosis GM1, type 3
GAPO syndrome
Garcia-Lurie syndrome
Gardner-Morrison-Abbott syndrome
Gardner-Silengo-Wachtel syndrome
Gardner syndrome
Gareis-Mason syndrome
Garret-Tripp syndrome
Gastric cancer
Gastric cancer, Borrmann 4
Gastric cancer, familial
Gastric linitis plastica
Gastritis, giant hypertrophic
Gastrocutaneous syndrome
Gastroduodenal malformation
Gastro-esophageal tumor
Gastrointestinal polyposis – ectodermal changes
Gastrointestinal polyposis – skin pigmentation – alopecia – fingernail changes
Gastrointestinal stromal tumor
Gastroschisis
Gaucher disease
Gaucher disease, acute neuronopathic type
Gaucher disease, cardiovascular form
Gaucher disease, chronic neuronopathic type
Gaucher disease, fetal form
Gaucher disease, infantile cerebral
Gaucher disease, juvenile and adult, cerebral
Gaucher disease, noncerebral juvenile
Gaucher disease – ophthalmoplegia – cardiovascular calcification
Gaucher disease, subacute neuronopathic type
Gaucher disease, type 1
Gaucher disease, type 2
Gaucher disease, type 3
Gaucher disease, type 3C
Gaucher-like disease
GBS
GEFS+
Gelatinous ascites
Geleophysic dwarfism
Gelineau disease
Gelsolin amyloidosis
Gemignani syndrome
Gemss syndrome
Generalized basaloid follicular hamartoma syndrome
Generalized bulbospinal muscular atrophy
Generalized epilepsy with febrile seizures-plus context
Generalized exfoliative disease
Generalized pseudohypoaldosteronism type 1
Generalized resistance to thyroid hormone
Genes syndrome
Genetic acrokeratoderma
Genetic anterior horn cell disease
Genetic aplastic anemia
Genetic biliary tract disease
Genetic branchial arch or oral-acral syndrome
Genetic cardiac rythm disease
Genetic central nervous system and retinal vascular disease
Genetic central nervous system malformation
Genetic childhood obesity
Genetic chronic primary adrenal insufficiency
Genetic congenital limb malformation
Genetic congenital thrombocytopenia of the fetus or the neonate
Genetic cranial malformation
Genetic dementia
Genetic dermis disorder
Genetic developmental defect of the eye
Genetic digestive tract malformation
Genetic disease of neuromuscular junction
Genetic disorder of sex development of endocrine origin
Genetic dyslipidemia
Genetic epidermal appendage anomaly
Genetic epidermal disease
Genetic erythrokeratoderma
Genetic external or internal genital malformation
Genetic eye tumor
Genetic gastro-esophageal disease
Genetic glomerular disease
Genetic hair anomaly
Genetic head and neck malformation
Genetic hemoglobin structure and synthesis anomaly
Genetic hemolytic anemia due to enzyme deficiency
Genetic hyperparathyroidism
Genetic hyperpigmentation of the skin
Genetic hypertension
Genetic hypoparathyroidism
Genetic hypopigmentation of the skin
Genetic ichthyosis
Genetic immune deficiency with skin involvement
Genetic intestinal disease
Genetic keratinisation disorder with an eye disease
Genetic late-onset ataxia with dementia
Genetic lens and zonula anomaly
Genetic lipodystrophy
Genetic macular dystrophy
Genetic malformation syndrome with odontal and/or periodontal component
Genetic malformation syndrome with short stature
Genetic malformative disorder of sex development
Genetic mixed dermis disorder
Genetic motoneuron disease
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic nail anomaly
Genetic neurodegenerative disease
Genetic neurological channelopathy
Genetic neurological channelopathy of the central nervous system
Genetic neurological muscular channelopathy
Genetic neuromuscular disease
Genetic neuro-ophthalmological disease
Genetic obesity
Genetic ophthalmological disease
Genetic optic neuropathy
Genetic overgrowth/obesity syndrome
Genetic pancreatic disease
Genetic parenchymatous liver disease
Genetic peripheral neuropathy
Genetic photodermatosis
Genetic pigmentation anomaly of the skin
Genetic platelet function disease
Genetic platelet function disease due to a collagen receptor defect
Genetic platelet function disease due to an ADP receptor defect
Genetic platelet function disease due to a secretion anomaly
Genetic platelet function disorder due to agonist receptor and signaling pathway anomalies
Genetic polyendocrinopathy
Genetic porokeratosis
Genetic primary cardiomyopathy
Genetic recurrent myoglobinuria
Genetic renal or urinary tract malformation
Genetic renal tubular disease
Genetic renal tubular disease
Genetic renal tumor
Genetic respiratory malformation
Genetic respiratory or mediastinal malformation
Genetic sebaceus gland anomaly
Genetic sideroblastic anemia
Genetic skeletal muscle disease
Genetic skin photosensitivity
Genetic skin tumor
Genetic skin vascular disease
Genetic subcutaneous tissue disease
Genetic susceptibility to infections caused by BCG and atypical mycobacteria
Genetic syndrome sometimes associated with diabetes
Genetic thrombocytopenia
Genetic thrombotic microangiopathy
Genetic unclassified epidermal disease
Genetic urogenital tract malformation
Genetic urticaria
Genetic vascular anomaly
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic vitreous-retinal disease
Genito-palato-cardiac syndrome
Genitopatellar syndrome
Genochondromatosis
Genochondromatosis, type 2
Genodermatosis with an eye disease
Genuine diffuse phlebectasia
Geographic helicoid peripapillary choroidopathy
GEPD
Gerbode defect
Gerhardt syndrome
German syndrome
Germ cell cancer of the cervix uteri
Germ cell cancer of the corpus uteri
Germinoma
Germinoma of the brain
Geroderma osteodysplastica
Gershonibaruch-Leibo syndrome
Gerstmann-Straussler-Scheinker syndrome
Gestationis pemphigoid
GHIS
GH isolated deficiency
Ghosal hematodiaphyseal dysplasia
Ghosal syndrome
Ghost teeth
GH receptor deficiency
Giant adenofibroma of the breast
Giant axonal neuropathy
Giant cell arteritis
Giant cell chondrodysplasia
Giant cell histiocytomatosis
Giant infantile hemangioma
Giant pigmented hairy nevus
Giant platelet syndrome
Gigantism
Gigantism partial – nevi – hemihypertrophy – macrocephaly
Gigantomastia
Gilbert syndrome
Gilles de la Tourette syndrome
Gillespie syndrome
Gingival cell tumor, congenital
Gingival fibromatosis – dental abnormalities
Gingival fibromatosis, dominant
Gingival fibromatosis – facial dysmorphism
Gingival fibromatosis – hypertrichosis
Gingival fibromatosis – progressive deafness
Gingival hypertrophy – corneal dystrophy
GIST
GIST-paraganglioma dyad
Gitelman syndrome
Giuffré-Tsukahara syndrome
Glanzmann thrombasthenia
Glass bone disease
Glass-Chapman-Hockley syndrome
Glassy cell carcinoma of the cervix uteri
Glaucoma associated with neural crest cell migration anomaly
Glaucoma, congenital
Glaucoma – ectopia – microspherophakia – stiff joints – short stature
Glaucoma, hereditary
Glaucoma, juvenile
Glaucoma, neovascular
Glaucoma – sleep apnea
Glioblastoma
Glioblastoma multiforme
Glioma
Global developmental delay – osteopenia – ectodermal defect
Globodontia
Globoid cell leukodystrophy
Globozoospermia
Glomangiomatosis
Glomerular disease
Glomerulonephritis, membranous congenital due to anti-maternal neutral endopeptidase alloimmunisation
Glomerulonephritis mesangiocapillary
Glomerulonephritis, pauci-immune
Glomerulonephritis, pauci-immune, with ANCA
Glomerulonephritis, pauci-immune, without ANCA
Glomerulonephritis – sparse hair – telangiectasis
Glomerulopathy with fibronectin deposits (GFND)
Glomuvenous malformation
Gloomy syndrome
Glossopalatine ankylosis
Glucagonoma
Glucocerebrosidase deficiency
Glucocorticoid deficiency, familial
Glucocorticoid resistance
Glucocorticoid sensitive hypertension
Gluconeogenesis disorder
Glucose-6-phosphatase deficiency
Glucose-6-phosphate-dehydrogenase deficiency
Glucose-6-phosphate translocase deficiency
Glucose-galactose malabsorption
Glucose transport disorder
Glucose transporter type 1 deficiency syndrome
Glucosidase acid-1,4-alpha deficiency
GLUT2 deficiency
Glutamate-aspartate transport defect
Glutamate-cysteine ligase deficiency
Glutamate decarboxylase deficiency
Glutaric acidemia type 2
Glutaricaciduria, type 1
Glutaricaciduria, type 2
Glutaricaciduria, type 3
Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA oxidase deficiency
Glutathione synthetase deficiency
Gluten-induced enteropathy
Gluten-sensitive enteropathy
Glycerol kinase deficiency
Glycerol metabolism disorder
Glycine encephalopathy
Glycinemia, ketotic
Glycine synthase deficiency
Glycogen branching deficiency
Glycogen debranching deficiency
Glycogenosis
Glycogenosis due to LAMP-2 deficiency
Glycogenosis due to liver phosphorylase deficiency
Glycogenosis due to phosphorylase kinase deficiency
Glycogenosis with hypertrophic cardiomyopathy
Glycogen storage disease
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to liver phosphorylase deficiency
Glycogen storage disease due to phosphorylase kinase deficiency
Glycogen storage disease, type 0
Glycogen storage disease type 1
Glycogen storage disease, type 1A
Glycogen storage disease, type 1B
Glycogen storage disease, type 1C
Glycogen storage disease, type 1D
Glycogen storage disease type 2
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6A
Glycogen storage disease type 6B
Glycogen storage disease type 7
Glycogen storage disease, type 9
Glycogen storage disease, type XI
Glycogen storage disease with hypertrophic cardiomyopathy
Glycogen storage myopathy
Glycogen synthetase in the liver deficiency
Glycolytic disease
GM1 gangliosidosis
GM2 gangliosidosis, 0 variant
GM2-gangliosidosis, B, B1, AB variant
GM3 synthase deficiency
GMS syndrome
Gnathodiaphyseal dysplasia
Goiter – deafness
Golabi-Rosen syndrome
Goldberg-Maxwell syndrome
Goldberg-Shprintzen megacolon syndrome
Goldberg syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
Goldblatt-Viljoen syndrome
Goldblatt-Wallis syndrome
Goldenhar syndrome
Goldmann-Favre syndrome
Goldstein-Hutt syndrome
Goldston syndrome
Gollop syndrome
Gollop-Wolfgang complex
Goltz-Gorlin syndrome
Goltz syndrome
Gombo syndrome
Gonadal differentation disease
Gonadal dysgenesis
Gonadal dysgenesis, XX type
Gonadal dysgenesis, XY female type
Gonadal dysgenesis, XY type – associated anomalies
Gonadotroph adenoma
Gonadotropic deficiency
Gonadotropin deficiency, familial
Gonadotropin-dependant precocious puberty
Goniodysgenesis
Goniodysgenesis – intellectual deficit – short stature
Gonococcal conjonctivitis
Gonodal dysgenesis, XX type – deafness
Gonosomes anomaly
Gonosomes number anomaly
Gonosomes structural anomaly
Gonzales-del Angel syndrome
Goodman camptodactyly
Goodman syndrome
Goodpasture syndrome
Good syndrome
Goossens-Devriendt syndrome
Gordon syndrom
Gordon syndrome
Gorham-Stout disease
Gorham syndrome
Gorlin-Chaudhry-Moss syndrome
Gorlin syndrome
GOSHS
Gracile bone dysplasia
GRACILE syndrome
Graft rejection after lung transplantation
Graft versus host disease
Graft versus host disease, acute
Graft versus host disease, chronic
Graham-Boyle-Troxell syndrome
Graham-Cox syndrome
Grand-Kaine-Fulling syndrome
Grange occlusive arterial syndrome
Grange syndrome
Grant syndrome
Granular cell tumor, congenital
Granulocytic sarcoma
Granulomatous allergic angiitis
Granulomatous allergic angiitis, pediatric onset
Granulomatous arthritis of childhood
Granulomatous disease, chronic
Granulomatous hypophysitis
Granulomatous inflammatory arthritis, dermatitis, and uveitis
Granulomatous mastitis
Granulomatous myositis
Granulomatous slack skin
Granulosa cell cancer
Granulosa cell malignant tumor
Gräsbeck-Imerslund disease
Gray platelet syndrome
Greenberg dysplasia
Greig syndrome
Greither’s disease
Grey platelet syndrome
GRFoma
GRF tumor
Grisart-Destrée syndrome
Griscelli disease
Griscelli syndrome, type 1
Griscelli syndrome, type 2
Griscelli syndrome, type 3
Grix-Blankenship-Peterson syndrome
Groll-Hirschowitz syndrome
Gronblad-Strandberg-Touraine syndrome
Grosse syndrome
Growth deficiency – brachydactyly – dysmorphism
Growth delay – alopecia – pseudoanodontia – optic atrophy
Growth delay – aminoaciduria – cholestasis – iron overload – lactic acidosis – early death
Growth delay – deafness- intellectual deficit
Growth delay due to insulin-like growth factor I deficiency
Growth delay due to insulin-like growth factor I resistance
Growth delay – hydrocephaly – lung hypoplasia
Growth delay – intellectual deficit – mandibulofacial dysostosis – microcephaly – cleft palate
Growth hormone insensitivity syndrome
Growth hormone receptor deficiency
Growth hormone releasing factor tumor
Growth retardation – microcephaly – digital abnormalities – hypospadias
Grubben-de Cock-Borghgraef syndrome
GSD
GSD due to LAMP-2 deficiency
GSD due to liver phosphorylase deficiency
GSD due to phosphorylase kinase deficiency
GSD type 0
GSD type 1
GSD type 2
GSD type 3
GSD type 4
GSD type 5
GSD type 6A
GSD type 6B
GSD type 7
GSD type XI
GSD with hypertrophic cardiomyopathy
G syndrome
GTN
GTPCH deficiency
GTP cyclohydrolase I deficiency
Guam disease
Guanidinoacetate methyltransferase deficiency
Guibaud-Vainsel syndrome
Guillain-Barré syndrome
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome cranial variant
Guizar-Vasquez-Luengas syndrome
GuizarVazquez-Sanchez-Manzano syndrome
Gunal-Seber-Basaran syndrome
Günther disease
Gurrieri-Sammito-Bellussi syndrome
Gusher syndrome
GVH
Gynandroblastoma
Gyrate atrophy of choroid and retina

G İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

H İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

Haas-Robinson syndrome
H-ABC
Haberland syndrome
Haddad syndrome
HAD deficiency
Hadziselimovic syndrome
HAE
HAE-I
HAE-II
HAE-III
Hagberg-Santavuori disease
Hagemoser-Weinstein-Bresnick syndrome
Hailey-Hailey disease
Haim-Munk syndrome
Hair anomaly
HAIR-AN syndrome
Hair defect – photosensitivity – intellectual deficit
Hairy elbows
Hairy throat syndrome
Hajdu-Cheney syndrome
Halal-Setton-Wang syndrome
Halal syndrome
Hal-Berg-Rudolph syndrome
Hallermam-Streiff-François syndrome, severe form
Hallermam-Streiff like syndrome
Hallermann-Streiff-François syndrome
Hallervorden-Spatz disease
Hall-Riggs syndrome
Hallux varus – preaxial polysyndactyly
Hamanishi-Ueba-Tsuji syndrome
Hamano-Tsukamoto syndrome
Hamel cerebro-palato-cardiac syndrome
Hamman-Rich syndrome
HAM syndrome
HANAC syndrome
Hanahart syndrome
Hand and foot deformity – flat facies
Hand-foot-uterus syndrome
Hand-Schüller-Christian disease
Hanot syndrome
Hantavirosis
Hantavirus fever
Hapnes-Boman-Skeie syndrome
Harboyan syndrome
Hardcastle syndrome
Hardikar syndrome
Harding ataxia
Hard-skin syndrome, Parana type
HARD syndrome (Hydrocephalus – agyria – retinal dysplasia)
Harlequin syndrome
HARP syndrome
Harrod syndrome
Hartnup disorder
Hartnup syndrome
Hartsfield-Bixler-Demyer syndrome
Hashimoto-Pritzker syndrome
Hashimoto’s encephalitis
Hashimoto struma
Haspeslagh-Fryns-Muelenaere syndrome
Hawkinsinuria
Hay-Wells syndrome
HCDD
HCL
Hearing loss – salivary gland insensitivity to aldosterone, familial
Heart block, congenital
Heart block progressive, familial
Heart defect – round face – developmental delay, congenital
Heart defects – limb shortening
Heart defect – tongue hamartoma – polysyndactyly
Heart-hand syndrome
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
Heart-hand syndrome type 2
Heart position anomaly
Heart tumor, adult
Heart tumor of the child
Heavy chain deposition disease
Heavy-chain disease
Hecht-Scott syndrome
Hecht syndrome
Heckenlively syndrome
HEC syndrome
Heide syndrome
Heimler syndrome
Heiner syndrome (cow’s milk hypersensitivity)
Heinz body anemia
Helicoid peripapillary chorioretinal degeneration
Heller syndrome
Helmerhorst-Heaton-Crossen syndrome
Hemangiolymphangioma
Hemangioma, intraosseous
Hemangioma, non-involuting, congenital
Hemangioma, rapidly involuting, congenital
Hemangiomas cavernous of face supraumbilical midline raphe
Hemangioma-thrombocytopenia syndrome
Hemangiopericytoma
Hematological disease associated with an acquired peripheral neuropathy
Hematological disorder with renal involvement
Hematopoietic cell transplantation
Hematopoietic hypoplasia, generalized
Hemeralopia, congenital essential
Hemi 3 syndrome
Hemiconvulsion-Hemiplegia-Epilepsy syndrome
Hemicorporal hypertrophy
Hemicrania, paroxysmal
Hemifacial atrophy, progressive
Hemifacial hyperplasia – strabismus
Hemifacial hypertrophy
Hemifacial microsomia
Hemifacial myohyperplasia
Hemihypertrophy
Hemihypertrophy intestinal web corneal opacity
Hemimegalencephaly
Hemimelia
Hemiplegic migraine, familial or sporadic
Hemochromatosis
Hemochromatosis due to defect in ferroportin
Hemochromatosis, familial
Hemochromatosis, juvenile form
Hemochromatosis, neonatal
Hemochromatosis type 1
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis, type 4
Hemoglobin C disease
Hemoglobin Constant Spring
Hemoglobin D disease
Hemoglobin E disease
Hemoglobin H disease
Hemoglobinopathy
Hemolysis with red cells fragmentation
Hemolytic anemia
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hemolytic anemia, lethal – genital anomalies
Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
Hemolytic-uremic syndrome with diarrhea
Hemolytic-uremic syndrome without diarrhea (D-HUS)
Hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis, acquired
Hemophagocytic lymphohistiocytosis, genetic
Hemophagocytic syndrome
Hemophagocytic syndrome associated with an infection
Hemophagocytic syndrome, reactive
Hemophagocytis syndrome, virus associated
Hemophilia
Hemophilia A
Hemophilia, acquired
Hemophilia B
Hemophilia C
Hemorrhagic disease due to alpha-1 antitrypsin Pittsburg mutation
Hemorrhagic fever – renal syndrome
Hemorrhagiparous thrombocytic dystrophy
Hennekam-Beemer syndrome
Hennekam-Koss-de Geest syndrome
Hennekam syndrome
Henoch-Schoenlein purpura
HEP
Heparane sulfamidase deficiency
Heparin-induced thrombocytopenia
Hepatic amyloidosis with intrahepatic cholestasis
Hepatic cystic hamartoma
Hepatic fibrosis – renal cysts – intellectual deficit
Hepatic or renal failure with dementia
Hepatic vein, congenital anomaly of
Hepatic veno-occlusive disease
Hepatic veno-occlusive disease – immunodeficiency
Hepatitis B re-infection following liver transplantation
Hepatoblastoma
Hepatocellular adenoma
Hepatocellular carcinoma
Hepatocellular carcinoma, adult-onset
Hepatocellular carcinoma, childhood-onset
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Hepatoerythropoietic porphyria
Hepatolenticular degeneration
Hepatoportal sclerosis
Hepatorenal glycogenosis
Hepatorenal tyrosinemia
Hepatosplenic T-cell lymphoma
Hereditary brachial plexus neuropathy
Hereditary bradykinine-induced angioedema
Hereditary breast and ovarian cancer syndrome
Hereditary chin myoclonus
Hereditary chin-trembling
Hereditary chronic pancreatitis
Hereditary continuous muscle fiber activity
Hereditary cranium bifidum
Hereditary cryohydrocytosis with reduced stomatin
Hereditary dentin defect
Hereditary endotheliopathy – retinopathy – nephropathy – stroke
Hereditary episodic ataxia
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
Hereditary geniospasm
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary inclusion body myopathy
Hereditary inclusion body myopathy – joint contractures – ophthalmoplegia
Hereditary inclusion body myositis
Hereditary iron overload with anemia
Hereditary iron overload with neurologic manifestation
Hereditary keratoacanthoma
Hereditary lymphedema, type I
Hereditary lymphedema, type II
Hereditary methemoglobinemia
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy, Lom type
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type
Hereditary motor and sensory neuropathy, Russe Type
Hereditary motor and sensory neuropathy, type 1
Hereditarymotor and sensoryneuropathy, type 2
Hereditary motor and sensory neuropathy, type 3 (HMSN 3)
Hereditary motor and sensory neuropathy type 4 (HMSN 4)
Hereditary motor and sensory neuropathy, type 5
Hereditary motor and sensory neuropathy, type 6
Hereditary mucosal leukokeratosis
Hereditary multiple glomangiomas
Hereditary myopathy with early respiratory failure
Hereditary neuralgic amyotrophy
Hereditary neuropathy with liability to pressure palsies
Hereditary non histamine-induced angioedema
Hereditary North American Indian childhood cirrhosis
Hereditary painful callosities
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin
Hereditary pheochromocytoma-paraganglioma syndrome
Hereditary prepubertal gynecomastia
Hereditary renal hypouricemia
Hereditary resistance to anti-vitamin K
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy, type 1
Hereditary sensory and autonomic neuropathy, type 1B
Hereditary sensory and autonomic neuropathy, type 1 with cough and gastrooesophageal reflux
Hereditary sensory and autonomic neuropathy, type 2
Hereditary sensory and autonomic neuropathy, type 3 (HSAN 3)
Hereditary sensory and autonomic neuropathy, type 4
Hereditary sensory and autonomic neuropathy, type 5
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hereditary site-specific ovarian cancer syndrome
Hereditary spastic paraplegia, autosomal dominant, complex
Hereditary spastic paraplegia, autosomal dominant, pure
Hereditary spastic paraplegia, autosomal recessive, complex
Hereditary spastic paraplegia, autosomal recessive, pure
Hereditary spastic paraplegia, X-linked complex
Hereditary symmetrical aplastic nevi of temples
Hereditary thermosensitive neuropathy
Hereditary thrombocythemia
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary thrombophilia due to congenital HRG deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital protein S deficiency
Hereditary vascular retinopathie – Raynaud phenomenon – migraine
Hereditary vascular retinopathy
Hereditary whispering dysphonia
Hereditary Willebrand disease
Hereditary woolly hair syndrome
Heredopathia atactica polyneuritiformis
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome type 2
Hernandez-Aguirre Negrete syndrome
Hernandez-Fragoso syndrome
HERNS syndrome
Herpes cutaneous, recurrent and disabling, idiopathic
Herpes simplex encephalitis
Herpes simplex neuroinvasion
Herpes simplex virus keratitis
Herpes virus antenatal infection
Herpes virus infection, congenital
Herpetic encephalitis
Herpetic keratitis
Hers disease
Hersh-Podruch-Weisskopf syndrome
Herva disease
Heterotaxia
Heterotaxy syndrome
Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Hexosaminidase A deficiency
Hexosaminidases A and B deficiency
HFE-related hemochromatosis
HHE syndrome
HHH syndrome
HHT
Hibernian fever, familial
Hidradenitis suppurativa
High anorectal malformation
High scapula
HIGM1
HIGM2
HIGM3
HIGM4
HIGM5
Hillig syndrome
Hinman syndrome
Hinson-Pepys disease
Hip dysplasia, Beukes type
Hip dysplasia – enchondromata – ecchondroma
Hipopituitarism due to empty sella turcica syndrome
Hipo syndrome
Hirayama disease
Hirschsprung disease
Hirschsprung disease – deafness – polydactyly
Hirschsprung disease – ganglioneuroblastoma
Hirschsprung disease – intellectual deficit
Hirschsprung disease – nail hypoplasia – dysmorphism
Hirschsprung disease – type D brachydactyly
Hirschsprung disease with pigmentary anomaly
Hirsutism – congenital gingival hyperplasia
Hirsutism – skeletal dysplasia – intellectual deficit
His bundle tachycardia
Histidase deficiency
Histidine metabolism disorder
Histidinemia
Histidinuria renal tubular defect
Histiocytic and dendritic cell tumor
Histiocytic sarcoma
Histiocytoid cardiomyopathy
Histiocytoma, generalized eruptive
Histiocytosis
Histiocytosis, benign cephalic
Histiocytosis, generalized eruptive
Histiocytosis, indeterminate cell
Histiocytosis, progressive mucinous, hereditary
Histiocytosis, progressive nodular
Histiocytosis, sea-blue
Histiocytosis, sinus, with massive lymphadenopathy
Histiocytosis X
Histoplasmosis
HI syndrome
HIT
Hittner-Hirsch-Kreh syndrome
HMC syndrome
HMN5B
HMSN 5
HMSNP
HMSNR
HNPCC
HNPP
HNSCC
Hodgkin lymphoma
Hodgkin lymphoma, classical
Hoepffner-Dreyer-Reimers syndrome
Hoffman’s syndrome
Holmes-Collins syndrome
Holmes-Gang syndrome
Holoacardius amorphus
Holoprosencephaly
Holoprosencephaly – caudal dysgenesis
Holoprosencephaly – craniosynostosis
Holoprosencephaly deletion 2p
Holoprosencephaly – ectrodactyly – cleft lip palate
Holoprosencephaly – postaxial polydactyly
Holoprosencephaly – radial heart renal anomalies
Holt-Oram syndrome
Holzgreve-Wagner-Rehder syndrome
HOMG1
HOMG2
HOMG3
HOMG4
Homocarnosinase deficiency
Homocarnosinosis
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to defect in methylation type cbl E
Homocystinuria due to methionine synthase deficiency, Cbl G type
Homocystinuria due to methylenetetrahydrofolate reductase deficiency
Homocystinuria without methylmalonic aciduria
Homogentisic acid oxydase deficiency
Homozygous familial hypobetalipoproteinemia
Hookworms infection
Hoon-Hall syndrome
Horner syndrome, congenital
Horseshoe kidney
Horton disease
Houlston-Ironton-Temple syndrome
House allergic alveolitis
Hoyeraal-Hreidarsson syndrome
HPA-1 deficiency
HPE
HSAN 1
HSAN1B
HSAN 2
HSAN 4
HSAN 5
HSAN with cough and gastroesophageal reflux
HSAN with deafness and global delay
HSAN with deafness, X-linked
HSAN with spastic paraplegia
HSD deficiency
HSV encephalitis
HSV keratitis
H syndrome
Hughes syndrome
Humeroradioulnar synostosis
Humerospinal dysostosis
Humeroulnar synostosis
Humerus trochlea, aplasia of
Hunter-Jurenka-Thompson syndrome
Hunter-McAlpine craniosynostosis
Hunter-Rudd-Hoffmann syndrome
Hunter syndrome
Hunter syndrome type A
Hunter syndrome type B
Hunter-Thompson-Reed syndrome
Huntington chorea
Huntington disease
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like 3
Huntington disease-like syndrome
Huntington disease phenocopy syndrome
Huriez syndrome
Hurler-Scheie syndrome
Hurler syndrome
Hutchinson-Gilford syndrome
Hutteroth-Spranger syndrome
HVR
Hyaline body myopathy
Hyaline fibromatosis, juvenile
Hyaline membrane disease
Hyalinosis cutis et mucosae
Hyalinosis, infantile systemic
Hyaluronidase deficiency
Hybrid acute leukemia
Hydatidiform mole
Hydatidosis
Hyde Forster-McCarthy-Berry syndrome
Hydranencephaly
Hydrocephalus autosomal recessive
Hydrocephalus – blue sclerae – nephropathy
Hydrocephalus – cleft palate – joint contractures
Hydrocephalus – costovertebral dysplasia – Sprengel anomaly
Hydrocephalus due to stenosis of aqueduct of Sylvius
Hydrocephalus – endocardial fibroelastosis – cataract
Hydrocephalus – obesity – hypogonadism
Hydrocephaly – low insertion umbilicus
Hydrocephaly – tall stature – joint laxity
Hydrolethalus
Hydromelia
Hydrometrocolpos – polydactyly, postaxial
Hydronephrosis congenital
Hydronephrosis – inverted smile
Hydrops – ectopic calcification – motheaten
Hydrops fetalis
Hydrops fetalis, idiopathic
Hydrops fetalis of Barts
Hydroxymethylglutaricaciduria
Hygroma cysticum
Hymenolepiasis
Hyperadrenocorticism
Hyperaldosteronism, familial, type 1
Hyperaldosteronism, familial, type 2
Hyperalphalipoproteinemia
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Hyperammonemia – hypoornithinemia – hypocitrullinemia – hypoargininemia – hypoprolinemia
Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome
Hyperandrogenism due to cortisone reductase deficiency
Hyperargininemia
Hyperbilirubinemia, Rotor type
Hyperbilirubinemia transient familial neonatal
Hyperbilirubinemia type 1
Hyperbilirubinemia type 2
Hyperbilirubinemia unconjugated, hereditary
Hypercalcemia, familial, benign
Hypercalcemia, familial – nephrocalcinosis – indicanuria
Hypercalciuria – bilateral macular coloboma
Hypercalciuria, idiopathic
Hypercholesterolemia due to arg3500 mutation of Apo B-100
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia due to LDL receptor deficiency
Hypercholesterolemia, familial
Hyperchylomicronemia, familial
Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency
Hypercortisolism
Hyperdibasic aminoaciduria, type 2
Hyperekplexia
Hyperekplexia – epilepsy
Hyperekplexia, hereditary
Hypereosinophilic syndromes
Hyperexplexia, hereditary
Hyperferritinemia, hereditary, with congenital cataracts
Hyperglycerolemia
Hyperglycinemia, isolated nonketotic
Hyperglycinemia, isolated nonketotic type 1
Hyperglycinemia, isolated nonketotic type 2
Hypergonadotropic ovarian dysgenesis
Hyper-IgD syndrome
Hyper IgE syndrome, nonskeletal
Hyper-IgM syndrome, autosomal recessive
Hyper-IgM syndrome, type 1
Hyper-IgM syndrome, type 2
Hyper-IgM syndrome, type 3
Hyper-IgM syndrome, type 4
Hyper-IgM syndrome, type 5
Hyper-IgM syndrome with opportunistic infections
Hyper-IgM syndrome without opportunistic infections
Hyperimidodipeptiduria
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobulin E-recurrent infection syndrome
Hyperimmunoglobulin E syndrome, type 1
Hyperimmunoglobulin E syndrome, type 2
Hyperinsulinism, diffuse
Hyperinsulinism due to focal adenomatous hyperplasia
Hyperinsulinism, exercise-induced
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemic periodic paralysis
Hyperkaliemia – hypertension, Gordon type
Hyperkeratosis – hyperpigmentation syndrome
Hyperkeratosis lenticularis perstans
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia type 3
Hyperlipoproteinemia type 1
Hyperlipoproteinemia type 3
Hyperlipoproteinemia, type 4
Hyperlipoproteinemia, type 5
Hyperlipoproteinemia type I
Hyperlipoproteinemia, type IV
Hyperlysinemia
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypernychthemeral syndrome
Hyperornithinemia
Hyperornithinemia – gyrate atrophy of choroid and retina (HOGA)
Hyperornithinemia-hyperammonemia-homocitrullinuria
Hyperostosid corticalis deformans juvenilis
Hyperostosis corticalis generalisata
Hyperostosis frontalis interna
Hyperostosis generalisata with striations
Hyperostotic dwarfism, Lenz-Majewski type
Hyperoxaluria
Hyperoxaluria, non1-non2 type
Hyperoxaluria type 1
Hyperoxaluria type 2
Hyperparathyroidism, familial, isolated (FIHPT)
Hyperparathyroidism – jaw tumor syndrome (HPT-JT)
Hyperparathyroidism, neonatal severe, primary
Hyperparathyroidism, primary, familial
Hyperphenilalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalalinemia due to dihydropteridine reductase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Hyperphenylalaninemic embryopathy
Hyperpigmentation of the skin
Hyperpigmentation progressive, familial
Hyperpipecolatemia
Hyperplastic polyposis syndrome
Hyperprolinemia type I
Hyperprolinemia, type II
Hypersensitivity pneumonitis
Hypertelorism-hypospadias-polysyndactyly syndrome
Hypertelorism-microtia-facial clefting syndrome
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Hypertensive hyperkalemia
Hyperthermia induced defects
Hyperthermia of anesthesia
Hyperthyroidism, familial, due to mutations in TSH receptor
Hyperthyroidism, familial, gestational
Hypertrichosis
Hypertrichosis, anterior cervical, isolated
Hypertrichosis – atrophic skin – ectropion – macrostomia
Hypertrichosis congenital generalized, Ambras type
Hypertrichosis congenital generalized, X-linked
Hypertrichosis cubiti – short stature
Hypertrichosis lanuginosa, acquired
Hypertrichosis lanuginosa congenita
Hypertrichosis universalis
Hypertrichosis universalis congenita, Ambras type
Hypertrichotic osteochondrodysplasia
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy due to intensive athletic training
Hypertrophic neuropathy of infancy
Hypertrophic osteoarthropathy, primary or idiopathic
Hypertrophic subaortic stenosis
Hypertryptophanemia
Hyperuricemia – anemia – renal failure
Hypoaldosteronism, familial
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Hypobetalipoproteinemia, familial form
Hypobetalipoproteinemia with selective deletion of Apo B-48
Hypocalcemia, autosomal dominant
Hypocalcemic rickets
Hypocalciuric hypercalcemia, familial
Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 2
Hypocalciuric hypercalcemia, familial, type 3
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic leucocytoclasic vasculitis
Hypocortisolism, acquired
Hypodermyiasis
Hypodontia
Hypodontia – dysplasia of nails
Hypodontia – nail dysgenesis
Hypogammaglobulinemia due to CD19 deficiency
Hypogammaglobulinemia due to CD19 or ICOS deficiency
Hypoglossia/aglossia
Hypoglossia/aglossia, isolated, congenital
Hypoglossia – hypodactyly
Hypogonadism-cataract syndrome
Hypogonadism – gynecomastia – intellectual deficit, X-linked
Hypogonadism, male – intellectual deficit – skeletal anomalies
Hypogonadism – mitral valve – prolapse – intellectual deficit
Hypogonadism – retinitis pigmentosa
Hypogonadotropic hypogonadism – alopecia
Hypogondatropic hypogonadism associated with other endocrinopathies
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypokalemic alkalosis – hypercalciuria
Hypokalemic periodic paralysis
Hypokinetic dilated cardiomyopathy, familial
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
Hypomagnesemia intestinal, type 1
Hypomagnesemia, primary, familial
Hypomagnesemia renal, type 2
Hypomagnesemia renal, type 3
Hypomagnesemia renal, type 4
Hypomagnesemia with hypocalciuria
Hypomagnesemia with normocalciuria
Hypomandibular faciocranial dysostosis
Hypomelanosis of Ito
Hypomyelinating neuropathy, congenital, autosomal recessive
Hypomyelination – congenital cataract
Hypomyelination – hypogonadotropic hypogonadism – hypodontia
Hypomyelination neuropathy – arthrogryposis
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypoparathyroidism – Addison’s disease – mucocutaneous candidiasis
Hypoparathyroidism, autoimmune
Hypoparathyroidism – deafness – renal disease
Hypoparathyroidism due to agenesis or dysgenesis of the parathyroid gland
Hypoparathyroidism due to destruction of the parathyroid gland
Hypoparathyroidism due to impaired parathormon secretion
Hypoparathyroidism due to impaired parathormon secretion, primary
Hypoparathyroidism due to impaired parathormon secretion, secondary
Hypoparathyroidism due to target organ resistance
Hypoparathyroidism, familial, isolated
Hypoparathyroidism – intellectual deficit – dysmorphism
Hypoparathyroidism – short stature – intellectual deficit – seizures
Hypophosphatasia
Hypophosphatemia, X-linked
Hypophosphatemic rickets
Hypophosphatemic rickets with hypercalciuria
Hypopigmentation-deafness syndrome
Hypopigmentation – immunodeficiency, with or without neurologic impairment
hypopigmentation – neurologic impairment
Hypopigmentation oculocerebral syndrome cross type
Hypopigmentation of the skin
Hypopituitarism, familial
Hypopituitarism – micropenis – cleft/lip palate
Hypopituitarism – microphthalmia
Hypopituitarism – postaxial polydactyly
Hypopituitarism – short stature – skeletal anomalies
Hypoplasminogenemia
Hypoplastic left heart syndrome
Hypoplastic right heart syndrome
Hypoplastic tibiae – polydactyly, post axial
Hypoprebetalipoproteinemia – acanthocytosis – retinitis pigmentosa – pallidal degeneration
Hypoproconvertinemia
Hypoprothrombinemia
Hyposmia – nasal and ocular hypoplasia – hypogonadism
Hypospadias – dyspaghia
Hypospadias, familial
Hypospadias – hypertelorism
Hypospadias-hypertelorism-coloboma and deafness
Hypospadias-intellectual deficit, Goldblatt type
Hypospadias, scrotal or penoscrotal
Hypospadias, severe, familial
Hypospadias, severe forms
Hypospadias, severe, sporadic
Hypotelorism – cleft palate – hypospadias
Hypothalamic hamartoblastoma syndrome
Hypothalamic hamartomas with gelastic seizures
Hypothyroidism – cleft palate
Hypothyroidism, congenital
Hypothyroidism, congenital, due to transplacental passage of maternal TSH-binding inhibitory antibodies
Hypothyroidism, congenital idiopathic
Hypothyroidism due to peripheral resistance to thyroid hormones
Hypothyroidism due to TSH receptor mutations
Hypothyroidism – dysmorphism – postaxial polydactyly – intellectual deficit
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Hypotonia – cystinuria syndrome
Hypotonia – failure to thrive – microcephaly
Hypotonia with lactic acidemia and hyperammonemia
Hypotrichosis – ichthyosis, congenital
Hypotrichosis-intellectual deficit, Lopes type
Hypotrichosis – lymphedema – telangiectasia
Hypotrichosis milia, congenital
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase (HPRT) complete deficiency
Hypoxanthine guanine phosphoribosyltransferase (HPRT) partial deficiency
Hystiocytic necrotizing lymphadenitis

H İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

I İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

IAHS
Iatrogenic or traumatic pituitary deficiency
IBIDS syndrome
ICCA syndrome
I-cell disease
ICE syndrome
ICF syndrome
Ichthyiosis, Lambert type
Ichthyosis
Ichthyosis, acquired
Ichthyosis – alopecia – eclabion – ectropion – intellectual deficit
Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly
Ichthyosis associated with a nucleotide excision repair anomaly
Ichthyosis associated with a peroxisomal disease
Ichthyosis associated with a protein catabolism anomaly
Ichthyosis, bathing suit
Ichthyosis bullosa of Siemens
Ichthyosis-cheek-eyebrow syndrome
Ichthyosis congenita – biliary atresia
Ichthyosis congenita, harlequin type
Ichthyosis, congenital – microcephalus – quadriplegia
Ichthyosis congenital, type 4
Ichthyosis exfoliativa
Ichthyosis follicularis – atrichia – photophobia
Ichthyosis – hepatosplenomegaly – cerebellar degeneration
Ichthyosis hystrix
Ichthyosis hystrix, Curth-Macklin type
Ichthyosis hystrix gravior
Ichthyosis – intellectual deficit – dwarfism – renal impairment
Ichthyosis, lamellar
Ichthyosis – male hypogonadism
Ichthyosis microphthalmos
Ichthyosis – oral and digital anomalies
Ichthyosis prematurity syndrome
Ichthyosis vulgaris, autosomal dominant
Ichthyosis with an eye disease
Ichthyosis, X-linked
ICOS deficiency
IDI
idic(15)
Idiopathic acquired sideroblastic anemia
Idiopathic acute transverse myelitis
Idiopathic and/or familial pulmonary arterial hypertension
Idiopathic aplastic anemia
Idiopathic bilateral vestibulopathy
Idiopathic bile acid malabsorption
Idiopathic copper-associated cirrhosis
Idiopathic dystonia DYT1
Idiopathic facial palsy
Idiopathic granulomatous mastitis
Idiopathic hypereosinophilic syndrome
Idiopathic hypersomnia
Idiopathic infantile arterial calcification
Idiopathic infection caused by BCG or atypical mycobacteria
Idiopathic interstitial pneumonia
Idiopathic juvenile osteoporosis
Idiopathic lobular panniculitis
Idiopathic massive osteolysis
Idiopathic myelofibrosis
Idiopathic neonatal atrial flutter
Idiopathic nodular panniculitis
Idiopathic obliterative arteriopathy
Idiopathic orthostatic hypotension
Idiopathic parkinsonism plus dementia
Idiopathic retinal-aneurysms-neuroretinitis syndrome
Idiopathic steatorrhea
Idiopathic torsion dystonia
Idiopathic torsion dystonia of ‘mixed’ type
Idiopathic uveal effusion syndrome
Iduronate 2-sulfatase deficiency
Iduronate 2-sulfatase deficiency type A
Iduronate 2-sulfatase deficiency type B
IED
IFAP syndrome
IgA deficiency
IgA nephropathy
IgA, selective deficiency of, TACI-related
IGDA
IGF-1 deficiency
IGF-1, resistance to
IGHD
Illum syndrome
IMAGe syndrome
Imaizumi-Kuroki syndrome
Iminoglycinuria
Immotile cilia syndrome
Immotile cilia syndrome, Kartagener type
Immune complex mediated vasculitis
Immune deficiency with skin involvement
Immune dysfunction due to T-cell inactivation due to calcium entry defect
Immune dysregulation disease
Immune dysregulation – polyendocrinopathy – enteropathy, X-linked
Immune hemolytic anemia due to cold-active antibodies
Immune hemolytic anemia due to mixed warm- and cold-active antibodies
Immune hemolytic anemia due to warm-active antibodies
Immune-mediated protracted diarrhea of infancy
Immune-mediated rippling muscle disease
Immune thrombocytopenia
Immune thrombocytopenia of the newborn
Immune thrombocytopenic purpura
Immunodeficiency-associated lymphoproliferative disease
Immunodeficiency by defective expression of HLA class 1
Immunodeficiency by defective expression of HLA class 2
Immunodeficiency – centromeric instability – facial anomalies
Immunodeficiency due to absence of thymus
Immunodeficiency due to CD25 deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Immunodeficiency – microcephaly – chromosomal instability
Immunodeficiency predominantly affecting antibody production
Immunodeficiency with a complement cascade protein anomaly
Immunodeficiency with a late components of complements deficiency (C5 to C9)
Immunodeficiency with an early components of complements deficiency (C1, C4, or C2)
Immunodeficiency with factor H anomaly
Immunodeficiency with factor I anomaly
Immunodeficiency with hypopigmentation
Immunodeficiency with natural-killer cell deficiency
Immunodeficiency with short limb dwarfism
Immunoglobulin A1 (IgA1) deficiency
Immunoglobulin A2 (IgA2) deficiency
Immunoglobulin A deficiency
Immunoglobulin heavy chain deficiency
Immunologic neutropenia
Immuno-osseous dysplasia
Immunoproliferative small intestinal disease
Immunotactoid glomerulopathy
Immunotactoid or fibrillary glomerulonephritis
Immunotactoid or fibrillary glomerulopathy
Imperforate oropharynx – costo vetebral anomalies
Imploding antrum syndrome
Impossible syndrome
INAD
INAD1
Inappropriate antidiuretic hormone secretion syndrome
Incessant infant ventricular tachycardia
Inclusion body fibromatosis
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy, type 2 (IBM2)
Inclusion body myopathy, type 3 (IBM3)
Inclusion myopathy
Incomplete bilateral aplasia of the Müllerian duct
Incomplete situs inversus
Incomplete unilateral aplasia of the Müllerian duct
Incontinentia pigmenti
Incontinentia pigmenti type 1
Incontinentia pigmenti type 2
Indian tick typhus
Indolent cutaneous B-cell lymphoma
Indolent cutaneous T-cell lymphoma
Indomethacin embryofetopathy
Inducible co-stimulator protein deficiency
Infant epilepsy with migrant focal crisis
Infantile apnea
Infantile arteriosclerosis
Infantile axonal neuropathy
Infantile Bartter syndrome with deafness
Infantile bilateral striatal necrosis
Infantile botulism
Infantile cellular interstitial pneumonitis
Infantile convulsions and choreoathetosis
Infantile digital fibromatosis
Infantile epilepsy syndrome
Infantile myofibromatosis
Infantile NCL
Infantile neuroaxonal dystrophy
Infantile neuronal ceroid lipofuscinosis
Infantile Onset Multisystem Inflammatory Disease
Infantile onset spinocerebellar ataxia
infantile-onset symptomatic epilepsy syndrome – developmental stagnation – blindness
Infantile spasms
Infantile spasms – broad thumbs
Infantile spinal muscular atrophy
Infantile striatonigral necrosis
Infant respiratory distress syndrome
Infection disseminated by cytomegalovirus, idiopathic
Infectious disease of the nervous system
Infectious disease with dementia
Infectious disease with diabetes
Infectious disease with epilepsy
Infectious disease with peripheral neuropathy
Infectious encephalitis
Infectious epithelial keratitis
Infectious, fungal or parasitic myopathy
Infectious hemolysis
Inferior caval vein (IVC), anomaly of, congenital
Infiltrative disease with cardiomyopathy
Infiltrative disorder with hypoparathyroidism
Inflammatory and autoimmune disease with epilepsy
Inflammatory disease with cardiomyopathy
Inflammatory myofibroblastic tumor
Inflammatory myoglandular polyps
Inflammatory pseudotumor of the liver
Infundibulopelvic stenosis – multicystic kidney
Inherited cancer-predisposing syndrome
Inherited giant platelet disorder
Inherited macrothrombocytopenia
Iniencephaly
Innominate vein, subaortic course of
Insensitivity to pain – anhidrosis
Insensitivity to pain, congenital
Insomnia, familial fatal
Insulin-like growth factor deficiency, primary
Insulinoma
Insulin resistance, short fifth metacarpals
Insulin-resistance syndrome
Insulin-resistance syndrome, type A
Insulin-resistance syndrome, type B
Insuloma
Integrinopathy
Intellectual deficit – aphasia – shuffling gait – adducted thumb
Intellectual deficit associated with fragile site FRAXE
Intellectual deficit – athetosis- microphthalmia
Intellectual deficit – balding – patella luxation – acromicria
Intellectual deficit, Birk-Barel type
Intellectual deficit – blepharophimosis – obesity – web neck
Intellectual deficit, Buenos-Aires type
Intellectual deficit – cataract – coloboma – kyphosis
Intellectual deficit – cataracts – calcified pinnae – myopathy
Intellectual deficit – cataracts – kyphosis
Intellectual deficit – coloboma – slimness
Intellectual deficit – dysmorphism – hypogonadism – diabetes mellitus
Intellectual deficit – dysmorphism – intrauterine growth retardation
Intellectual deficit – enteropathy – deafness – peripheral neuropathy – ichthyosis – keratodermia
Intellectual deficit – epilepsy – bulbous nose
Intellectual deficit – epilepsy, X-linked
Intellectual deficit – epilepsy, X-linked, dominant type
Intellectual deficit – epilepsy, X-linked, recessive type
Intellectual deficit – hypocupremia – hypobetalipoproteinemia
Intellectual deficit – hypoplastic corpus callosum – preauricular tag
Intellectual deficit – hypotonia – facial dysmorphism
Intellectual deficit – hypotonia – skin hyperpigmentation
Intellectual deficit – hypsarrhythmia
Intellectual deficit, Kahrizi type
Intellectual deficit – macrocephaly – coarse facies – hypotonia
Intellectual deficit – microcephaly – phalangeal – facial abnormalities
Intellectual deficit – microcephaly – unusual facies
Intellectual deficit, Mietens-Weber type
Intellectual deficit – multiple anomalies
Intellectual deficit – myopathy – short stature – endocrine defect
Intellectual deficit – nasal papillomata
Intellectual deficit – polydactyly – uncombable hair
Intellectual deficit – progressive spasticity, X-linked
Intellectual deficit, severe – epilepsy – anal anomalies – distal phalangeal hypoplasia
Intellectual deficit – short broad thumbs
Intellectual deficit – short stature – cleft palate – unusual facies
Intellectual deficit – short stature – hand contractures – genital anomalies
Intellectual deficit – short stature – heart and skeletal defects
Intellectual deficit – short stature – hypertelorism
Intellectual deficit – short stature – microcephaly – eye anomalies
Intellectual deficit – short stature – wedge shaped epiphyses of knees
Intellectual deficit – sparse hair – brachydactyly
Intellectual deficit – spasticity – ectrodactyly
Intellectual deficit – truncal obesity – retinal dystrophy – micropenis
Intellectual deficit – unusual facies
Intellectual deficit-unusual facies, Davis-Lafer type
Intellectual deficit – unusual facies – talipes – hand anomalies
Intellectual deficit, Wolff type
Intellectual deficit, X-linked, Abidi type
Intellectual deficit, X-linked – acromegaly – hyperactivity
Intellectual deficit, X-linked, Ahmad type
Intellectual deficit, X-linked, Armfield type
Intellectual deficit, X-linked, Atkin type
Intellectual deficit, X-linked, Brooks type
Intellectual deficit, X-linked, Cabezas type
Intellectual deficit, X-linked, Cantagrel type
Intellectual deficit, X-linked – cerebellar hypoplasia
Intellectual deficit, X-linked, Chassaing type
Intellectual deficit, X-linked – choreoathetosis – abnormal behavior
Intellectual deficit, X-linked, Cilliers type
Intellectual deficit, X-linked – corpus callosum agenesis – spastic quadriparesis
Intellectual deficit, X-linked – craniofacial dysmorphology – epilepsy – ophthalmoplegia – cerebellar atrophy
Intellectual deficit, X-linked – craniofacioskeletal syndrome
Intellectual deficit, X-linked – cubitus valgus – dysmorphism
Intellectual deficit, X-linked – Dandy-Walker malformation – basal ganglia disease – Seizures
Intellectual deficit, X-linked, due to MECP2 duplication
Intellectual deficit X-linked, due to PQBP1 mutations
Intellectual deficit, X-linked – dysmorphism – cerebral atrophy
Intellectual deficit, X-linked – dystonia – dysarthria
Intellectual deficit, X-linked – epilepsy – progressive joint contractures – dysmorphism
Intellectual deficit, X-linked – epileptic seizures – hypogenitalism – microcephaly – obesity
Intellectual deficit, X-linked, Fichera type
Intellectual deficit, X-linked, Golabi-Ito-Hall type
Intellectual deficit, X-linked, Gu type
Intellectual deficit, X-linked – gynecomastia – obesity
Intellectual deficit, X-linked – hydrocephaly – microphthalmia – chondrodysplasia
Intellectual deficit, X-linked – hypogammaglobulinemia – progressive neurological deterioration
Intellectual deficit, X-linked – hypogonadism – ichthyosis – obesity – short stature
Intellectual deficit, X-linked – hypotonia – facial dysmorphism – aggressive behavior
Intellectual deficit, X-linked – hypotonia – recurrent Infections
Intellectual deficit, X-linked – hypotonic face
Intellectual deficit, X-linked, Kroes type
Intellectual deficit, X-linked, Lubs type
Intellectual deficit, X-linked – macrocephaly – macro-orchidism
Intellectual deficit, X-linked – macroglossia – brachydactyly
Intellectual deficit, X-linked – marfanoid habitus
Intellectual deficit, X-linked, Martinez type
Intellectual deficit, X-linked – microcephaly – brainstem and cerebellum hypoplasia
Intellectual deficit, X-linked – microcephaly – testicular failure
Intellectual deficit, X-linked, Miles-Carpenter type
Intellectual deficit, X-linked – monoamine oxidase A metabolism anomaly
Intellectual deficit, X-linked – nail dystrophy – seizures
Intellectual deficit, X-linked, Nascimento type
Intellectual deficit, X-linked, nonspecific
Intellectual deficit, X-linked, Pai type
Intellectual deficit, X-linked – plagiocephaly
Intellectual deficit, X-linked, Porteous type
Intellectual deficit, X-linked – precocious puberty – obesity
Intellectual deficit, X-linked – psychosis – macroorchidism
Intellectual deficit, X-linked, Raymond type
Intellectual deficit, X-linked, Raynaud type
Intellectual deficit, X-linked, recessive – macrocephaly – ciliary dysfunction
Intellectual deficit, X-linked, Reish type
Intellectual deficit X-linked, Renpenning type
Intellectual deficit, X-linked – retinitis pigmentosa
Intellectual deficit, X-linked, Schimke type
Intellectual deficit, X-linked, Schutz type
Intellectual deficit, X-linked, Seemanova type
Intellectual deficit, X-linked – seizures – psoriasis
Intellectual deficit, X-linked, severe, Gustavson type
Intellectual deficit, X-linked, Shashi type
Intellectual deficit, X-linked – short stature – obesity
Intellectual deficit, X-linked, Shrimpton type
Intellectual deficit, X-linked, Siderius type
Intellectual deficit, X-linked, Snyder type
Intellectual deficit, X-linked, South African type
Intellectual deficit, X-linked – Spastic paraplegia with iron deposits
Intellectual deficit, X-linked – spastic quadriparesis
Intellectual deficit, X-linked, Stevenson type
Intellectual deficit, X-linked, Stocco Dos Santos type
Intellectual deficit, X-linked, Stoll type
Intellectual deficit X-linked, Sutherland-Haan type
Intellectual deficit, X-linked, syndromic 10
Intellectual deficit, X-linked, syndromic 7
Intellectual deficit, X-linked, syndromic, due to JARID1C mutation
Intellectual deficit, X-linked, syndromic, type 11
Intellectual deficit, X-linked, Turner type
Intellectual deficit, X-linked, type Najm
Intellectual deficit, X-linked, Van Esch type
Intellectual deficit, X-linked, Vitale type
Intellectual deficit, X-linked, Wei type
Intellectual deficit, X-linked, Wilson type
Intellectual deficit, X-linked, with isolated growth hormone deficiency
Intellectual deficit, X-linked, with seizures, short stature and midface hypoplasia
Intellectual deficit, X-linked, Wittner type
Intellectual deficit, X-linked, Wittwer type
Intellectual deficit, X-linked, Zorick type
Interauricular communication
Intercostal nerve syndrome
Interdigitating cell sarcoma
Interdigitating dendritic cell sarcoma
Interferon gamma, receptor 1, deficiency
Interleukin-1 receptor antagonist deficiency
Interleukin-2 receptor alpha chain deficiency
Intermediate anorectal malformation
Intermediate DEND syndrome
Intermediate nemaline myopathy
Intermediate osteopetrosis
Intermediate spinal muscular atrophy
Internal carotid agenesis
Interstitial cystitis/Bladder pain syndrome
Interstitial granulomatous dermatitis with arthritis
Interstitial lung disease
Interstitial lung disease
Interstitial pneumonia, nonspecific
Interstitial pneumonia, nonspecific, idiopathic
Interstitial pneumonitis, acute
Interventricular communication
Interventricular septum aneurysm
Intestinal atresia multiple
Intestinal disease due to fat malabsorption
Intestinal disease due to vitamin absorption anomaly
Intestinal epithelial dysplasia
Intestinal hypomagnesemia with secondary hypocalcemia
Intestinal lipodystrophy
Intestinal lipophagic granulomatosis
Intestinal lymphangiectasia
Intestinal lymphangiectasia, congenital
Intestinal malformation
Intestinal malrotation-facial anomalies, familial form
Intestinal polyposis
Intestinal polyposis – cutaneous pigmentation syndrome
Intestinal pseudoobstruction, chronic, idiopathic
Intestinal pseudoobstruction, myopathic
Intestinal pseudoobstruction, neuronal
Intestinal pseudoobstruction, unclassified
Intestinal toxemia botulism
Intestinal tumor
Intracellular cobalamin metabolism disorder
Intracerebral hemorrhage, post-neonatal
Intracranial aneurysms – multiple congenital anomalies
Intracranial arteriovenous malformation
Intracranial germ cell tumor
Intractable diarrhea – choanal atresia – eye anomalies
Intractable diarrhea, congenital, familial, with epithelial or epithelium abnormalities
Intractable diarrhea of infancy
Intrahepatic cholestasis of pregnancy
Intraneural perineurioma
Intraosseous vascular malformation, primary
Intrauterine adhesions
Intrauterine growth retardation – mandibular malar hypoplasia
Intrauterine growth retardation – metaphyseal dysplasia – adrenal hypoplasia congenita – genital anomalies
Intrauterine infection-like syndrome, congenital
Intrinsic factor, congenital deficiency of
Invasive infections due to Vancomycin Resistant Enterococci (VRE)
Invasive mole
Inv dup(15)
Inverse Marcus-Gunn phenomenon
Inversion/duplication, chromosome 22
Inverted smile – neurogenic bladder
IOMID syndrome
IOSCA
IPEX
IPSID
IRAK4 deficiency
IRIDA syndrome
Iridocorneal endothelial syndrome
Iridogoniodysgenesis
Iris coloboma with ptosis – intellectual deficit
Iris dysplasia – hypertelorism – deafness
Iris melanoma
Iron deficiency anemia
Iron metabolism and hem synthesis disease
Iron overload disease
Iron overload due to hereditary and environmental factors
Iron-refractory iron deficiency anemia
Irons-Bhan syndrome
IRVAN syndrome
Isaacs-Mertens syndrome
Isaac’s syndrome
Ischemia/perfusion injury associated with solid organ transplantation procedure
Ischemic brain injury, neonatal
Ischiopatellar dysplasia
Ischio-spinal dysostosis
Ischio-vertebral dysplasia
Ischio-vertebral syndrome
Isobutyric aciduria
Isobutyryl-CoA dehydrogenase deficiency
Isochromosome 12p mosaicism
Isochromosome 12p syndrome
Isochromosome 18p
Isochromosome 21
Isochromosome 9p
Isochromosome Y
Isochromosomy Yp
Isochromosomy Yq
ISOD
Isodicentric 15 chromosome
Iso-Kikuchi syndrome
Isolated amastia
Isolated anorectal malformation
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Isolated brachycephaly
Isolated breast aplasia
Isolated cerebellar vermis hypoplasia
Isolated cleft lip
Isolated cloverleaf skull syndrome
Isolated congenital acropachy
Isolated congenital convex foot
Isolated congenital digital clubbing
Isolated congenital gonadotropin deficiency
Isolated congenitally corrected transposition of the great arteries
Isolated congenitally corrected transposition of the great vessels
Isolated congenital vertical talus
Isolated corpus callosum agenesis
Isolated craniosynostosis
Isolated dolichocephaly
Isolated dominant hypomagnesemia
Isolated FSH deficiency
Isolated genetic deafness
Isolated hair shaft abnormality
Isolated hereditary xanthinuria
Isolated humeroradial synostosis
Isolated Klippel-Feil syndrome
Isolated mitochondrial neurosensory deafness
Isolated mitochondrial sensorineural deafness
Isolated nail anomaly
Isolated oxycephaly
Isolated partial vaginal agenesis
Isolated Pierre Robin sequence
Isolated Pierre Robin syndrome
Isolated plagiocephaly
Isolated polythelia
Isolated postlingual genetic deafness
Isolated prelingual genetic deafness
Isolated scaphocephaly
Isolated sternocostoclavicular hyperostosis
Isolated sulfite oxidase deficiency
Isolated trigonocephaly
Isolated ventriculoarterial discordance
Isolated vitamin E deficiency
Isolated xanthine dehydrogenase (XDH) deficiency
Isolated xanthine oxidase (XO) deficiency
Isolated xanthine oxidoreductase (XOR) deficiency
Isosporiasis
Isotretinoin embryopathy
Isotretinoin-like syndrome
Isotretinoin syndrome
Isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia
Itin syndrome
Ito hypomelanosis
ITP
IVC, azygos continuation of
IVC interruption
IVC, right, connecting to left-sided atrium
IVC stenosis, congenital
Ivemark syndrome
IVIC syndrome

I İle Başlayan Nadir Hastalıklar (Türkçe Yazılışı):

Türkçe yazılışlarını Google Translate ile çevirebilirsiniz…

J İle Başlayan Nadir Hastalıklar (İngilizce Yazılışı):

Jackson-Barr syndrome
Jackson-Weiss syndrome
Jacobsen syndrome
Jacobs syndrome
JAE
Jaffe-Campanacci syndrome
Jaffe-Lichtenstein disease
Jagell-Holmgren-Hofer syndrome
Jalili syndrome
Jamaican vomiting sickness
Jamaican vomiting syndrome
Jancar syndrome
Japanese encephalitis
Jarcho-Levin syndrome
Jaw-Winking syndrome
Jeavons syndrome
Jejunal atresia
Jensen syndrome
Jequier-Kozlowski syndrome
Jervell and Lange-Nielsen syndrome
Jessner-Kanof lymphocytic infiltration of the skin
Jessner’s benign lymphocytic infiltration of the skin
Jessner’s lymphocytic infiltration of the skin
Jeune syndrome
Job syndrome
Johanson-Blizzard syndrome
Johnson-McMillin syndrome
Johnson-Munson syndrome
Johnson syndrome
Johnston-Aarons-Schelley syndrome
Joint instability syndrome
Joint laxity, familial
Jones syndrome
Jorgenson-Lenz syndrome
Joubert-Boltshauser syndrome
Joubert syndrome
Joubert syndrome and related diseases
Joubert syndrome – bilateral chorioretinal coloboma
Joubert syndrome with renal disease
Joubert syndrome with retinopathy
JSRD
Juberg-Hayward syndrome
Juberg-Marsidi syndrome
Jung-Wolff-Back-Stahl syndrome
Jussieu syndrome
Juvenile absence epilepsy
Juvenile aponeurotic fibromatosis
Juvenile chronic myelomonocytic leukemia
Juvenile dermatomyositis
Juvenile gastrointestinal polyposis
Juvenile Idiopathic Arthritis
Juvenile idiopathic arthritis, unclassified
Juvenile intestinal polyposis (JIP)
Juvenile muscular atrophy of the distal upper limb
Juvenile myoclonic epilepsy
Juvenile neuronal ceroid lipofuscinosis
Juvenile or adult CACH syndrome
Juvenile osteoporosis
Juvenile polymyositis
Juvenile polyposis of infancy
Juvenile polyposis syndrome, infantile form
Juvenile polyposis syndrome (JPS)
Juvenile spinal muscular atrophy
Juvenile spinal muscular atrophy, autosomal dominant
Juvenile temporal arteritis
JWS