17 Beta-hydroxysteroid dehydrogenase deficiency




Название17 Beta-hydroxysteroid dehydrogenase deficiency
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Дата конвертации03.01.2013
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10q Partial trisomy

17 Beta-hydroxysteroid dehydrogenase deficiency

18-Hydroxylase deficiency

18p syndrome

1p36.33 deletion

2-hydroxyethyl methacrylate sensitization

2-Hydroxyglutaricaciduria

2-Methylacetoacetyl CoA thiolase deficiency

22q11.2 deletion syndrome

3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

3 alpha methylcrotonyl-coa carboxylase 2 deficiency

3 alpha methylglutaconicaciduria, type 3

3-Hydroxyisobutyric aciduria

3C syndrome

3M syndrome

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

4-hydroxyphenylacetic aciduria

46,XX Gonadal dysgenesis epibulbar dermoid

47 XYY syndrome

47,XXX syndrome

49,XXXXX syndrome

49,XXXXY syndrome

5-alpha-Oxoprolinase deficiency

5-Nucleotidase syndrome

5q syndrome

6 alpha mercaptopurine sensitivity

6-pyruvoyl-tetrahydropterin synthase deficiency

Aagenaes syndrome

Aarskog syndrome

Aase Smith syndrome

Aase syndrome

ABCD syndrome

Abdominal aortic aneurysm

Abdominal chemodectomas with cutaneous angiolipomas

Abdominal cystic lymphangioma

Abdominal obesity metabolic syndrome

Aberrant subclavian artery

Abetalipoproteinemia

Abidi X-linked mental retardation syndrome

Ablepharon macrostomia syndrome

Abrikosov's tumor

Abruzzo Erickson syndrome

Absence of Gluteal muscle

Absence of septum pellucidum

Absence of Tibia

Absence of tibia with polydactyly

Absent abdominal musculature with microphthalmia and joint laxity

Absent breasts and nipples

Absent corpus callosum cataract immunodeficiency

Absent duct of Santorini

Absent patella

Absent T lymphocytes

Abuse dwarfism syndrome

Acalvaria

Acanthamoeba infection

Acanthocheilonemiasis

Acanthoma

Acanthosis nigricans

Acanthosis nigricans muscle cramps acral enlargement

Acarophobia

Acatalasemia

Accessory deep peroneal nerve

Accessory navicular bone

Accessory pancreas

Aceruloplasminemia

Acetyl-coa acetyltransferase 2 deficiency

Acetylcarnitine deficiency

Achalasia

Achalasia Addisonianism Alacrimia syndrome

Achalasia alacrimia syndrome

Achalasia microcephaly

Achalasia, familial esophageal

Achard syndrome

Achard-Thiers syndrome

Acheiropodia

Achondrogenesis type 1A

Achondrogenesis type 1B

Achondrogenesis type 2

Achondrogenesis, type 3

Achondrogenesis, type 4

Achondroplasia

Achondroplasia and Swiss type agammaglobulinemia

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Achromatopsia incomplete, x-linked

Acid maltase deficiency

Acidemia, isovaleric

Acidemia, propionic

Acinic cell carcinoma

Acitretine antenatal infection

Ackerman syndrome

Acoustic neuroma

Acquired agranulocytosis

Acquired amegakaryocytic thrombocytopenia

Acquired angioedema

Acquired hypoprothrombinemia

Acquired ichthyosis

Acquired prothrombin deficiency

Acquired pure megakaryocytic aplasia

Acral dysostosis dyserythropoiesis

Acral lentiginous melanoma

Acro coxo mesomelic dysplasia

Acrocallosal syndrome, Schinzel type

Acrocephalopolydactyly

Acrocephaly pulmonary stenosis mental retardation

Acrodermatitis

Acrodermatitis enteropathica

Acrodysostosis

Acrodysplasia scoliosis

Acrofacial dysostosis ambiguous genitalia

Acrofacial dysostosis atypical postaxial

Acrofacial dysostosis Catania form

Acrofacial dysostosis Preis type

Acrofacial dysostosis Rodriguez type

Acrofacial dysostosis Weyers type

Acrofacial dysostosis, Nager type

Acrofacial dysostosis, Palagonia type

Acrofrontofacionasal dysostosis syndrome

Acrokeratoelastoidosis of Costa

Acromegaloid changes, cutis verticis gyrata and corneal leukoma

Acromegaloid facial appearance syndrome

Acromegaloid hypertrichosis syndrome

Acromegaly

Acromelic frontonasal dysplasia

Acromesomelic dysplasia

Acromesomelic dysplasia Brahimi Bacha type

Acromesomelic dysplasia Campailla Martinelli type

Acromesomelic dysplasia Hunter Thompson type

Acromesomelic dysplasia, Maroteaux type

Acromicric dysplasia

Acroosteolysis dominant type

Acroosteolysis neurogenic

Acroosteolysis osteoporosis skull and mandible changes

Acropectoral syndrome

Acropectorenal field defect

Acropectorovertebral dysplasia

Acrophobia

Acrorenal mandibular syndrome

Acrorenal syndrome recessive

Acrorenoocular syndrome

Acrospiroma

ACTH deficiency

ACTH resistance

Actinic cheilitis

Actinomycetales infection

Acutane embryopathy

Acute articular rheumatism

Acute biphenotypic leukemia

Acute cholinergic dysautonomia

Acute disseminated encephalomyelitis

Acute erythroblastic leukemia

Acute erythroleukemia

Acute fatty liver of pregnancy

Acute febrile neutrophilic dermatosis

Acute hemorrhagic leukoencephalitis

Acute idiopathic polyneuritis

Acute intermittent porphyria

Acute lymphoblastic leukemia congenital sporadic aniridia

Acute lymphoblastic leukemia, adult

Acute lymphoblastic leukemia, Childhood

Acute megakaryoblastic leukemia

Acute monoblastic leukemia

Acute mountain sickness

Acute myeloblastic leukemia type 1

Acute myeloblastic leukemia type 2

Acute myeloblastic leukemia type 3

Acute myeloblastic leukemia type 4

Acute myeloblastic leukemia type 5

Acute myeloblastic leukemia type 6

Acute myeloblastic leukemia type 7

Acute myeloblastic leukemia with maturation

Acute myeloblastic leukemia without maturation

Acute myelocytic leukemia

Acute myelogenous leukemia

Acute myeloid leukemia, adult

Acute myeloid leukemia, childhood

Acute myelomonocytic leukemia

Acute necrotizing ulcerative gingivitis

Acute non lymphoblastic leukemia (generic term)

Acute posterior multifocal placoid pigment epitheliopathy

Acute promyelocytic leukemia

Acute respiratory distress syndrome

Acute zonal occult outer retinopathy

Acyl-CoA oxidase deficiency

Adactylia unilateral dominant

Adams Nance syndrome

Adams Oliver syndrome

Addison's disease

Adducted thumb and clubfoot syndrome

Adducted thumb syndrome recessive form

Adducted thumbs Dundar type

Adenine phosphoribosyltransferase deficiency

Adenoameloblastoma

Adenocarcinoid tumor

Adenocarcinoma of lung

Adenoid cystic carcinoma

Adenoma of the adrenal gland

Adenomyosis

Adenosarcoma of the uterus

Adenosine deaminase deficiency

Adenosine monophosphate deaminase deficiency

Adenosine triphosphatase deficiency, anemia due to

Adenylosuccinate lyase deficiency

Adie syndrome

Adiposis dolorosa

Adnexal, spiradenoma/cylindroma, of a sweat gland

Adolescent benign focal crisis

Adrenal adenoma, familial

Adrenal cancer

Adrenal gland hyperfunction

Adrenal gland hypofunction

Adrenal hyperplasia

Adrenal hyperplasia 2

Adrenal hyperplasia, congenital type 3

Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency

Adrenal hyperplasia, congenital, type 1

Adrenal hyperplasia, congenital, type 5

Adrenal hypertension

Adrenal hypoplasia congenital, X-linked

Adrenal incidentaloma

Adrenal macropolyadenomatosis

Adrenal medulla neoplasm

Adrenocortical carcinoma

Adrenogenital syndrome

Adrenoleukodystrophy

Adrenoleukodystrophy, autosomal, neonatal form

Adrenoleukodystrophy, X-linked

Adrenomyodystrophy

Adult granulosa cell tumor

Adult low grade infiltrative supratentorial Astrocytoma Oligodendroglioma

Adult onset angioedema

Adult onset Still's disease

Adult progressive spinal muscular atrophy Aran Duchenne type

Adult spinal muscular atrophy

ADULT syndrome

Advanced sleep phase syndrome

Aerophobia

Afibrinogenemia

African trypanosomiasis

Agammaglobulinemia, non-Bruton type

Aganglionosis, total intestinal

Aggressive fibromatosis

Aglossia and Situs Inversus

Agnosia

Agrizoophobia

Agyria pachygyria polymicrogyria

Agyria-pachygyria type 1

Agyrophobia

Ahumada-Del Castillo syndrome

Aicardi Goutieres syndrome

Aicardi syndrome

Aichmophobia

AIDS Dementia Complex

AIDS dysmorphic syndrome

Ailurophobia

Ainhum

Akaba Hayasaka syndrome

Akesson syndrome

Aksu von Stockhausen syndrome

Al Awadi syndrome

Al Gazali Aziz Salem syndrome

Al Gazali Donnai Mueller syndrome

Al Gazali Hirschsprung syndrome

Al Gazali Khidr Prem Chandran syndrome

Al Gazali Sabrinathan Nair syndrome

Alagille-Watson syndrome

Albers-Schonberg disease

Albinism

Albinism deafness syndrome

Albinism immunodeficiency

Albinism ocular late onset sensorineural deafness

Albinism oculocutaneous, Hermansky-Pudlak type

Albinism, minimal pigment type

Albrecht Schneider Belmont syndrome

Albright like syndrome

Albright's hereditary osteodystrophy

Alcohol antenatal infection

Aldolase A deficiency

Aldred syndrome

Alektorophobia

Aleukemic leukemia cutis

Alexander's disease

Alkaptonuria

Allain Babin Demarquez syndrome

Allanson Pantzar McLeod syndrome

Allergic angiitis

Allergic autoimmune thyroiditis

Allergic bronchopulmonary aspergillosis

Allergic encephalomyelitis

Alliumphobia

Allodoxaphobia

Aloi Tomasini Isaia syndrome

Alopecia anosmia deafness hypogonadism syndrome

Alopecia areata

Alopecia congenita keratosis palmoplantaris

Alopecia contractures dwarfism mental retardation

Alopecia epilepsy oligophrenia syndrome of Moynahan

Alopecia hypogonadism extrapyramidal disorder

Alopecia immunodeficiency

Alopecia macular degeneration growth retardation

Alopecia mental retardation hypogonadism

Alopecia mental retardation syndrome

Alopecia totalis

Alopecia universalis

Alopecia universalis onychodystrophy vitiligo

Alopecia, epilepsy, pyorrhea, mental subnormality

Alpers disease

Alpers syndrome

Alpha 1-antitrypsin deficiency

Alpha-2 deficient collagen disease

Alpha-ketoglutarate dehydrogenase deficiency

Alpha-L-iduronidase deficiency

Alpha-mannosidosis, adult-onset form

Alpha-sarcoglycanopathy

Alpha-Thalassemia

Alpha-thalassemia-abnormal morphogenesis

Alport syndrome

Alport syndrome, dominant type

Alport syndrome, recessive type

Alsing syndrome

Alstrom syndrome

Alternating hemiplegia of childhood

Aluminium lung

Alveolar capillary dysplasia

Alveolar echinococcosis

Alveolar soft part sarcoma

Alveolitis, extrinsic allergic

Alves Castelo dos Santos syndrome

Alzheimer disease type 1

Alzheimer disease type 2

Alzheimer disease type 4

Alzheimer disease, familial

Alzheimer disease, familial, type 3

Alzheimer's disease without Neurofibrillary tangles

Amastia

Amathophobia

Amaurosis congenita of Leber

Amaurosis congenita of Leber, type 1

Amaurosis congenita of Leber, type 2

Amaurosis congenita of Leber, type 9

Amaurosis fugax

Amaurosis hypertrichosis

Amaxophobia

Ambral syndrome

Ambras syndrome

Ambulophobia

Amebiasis

Amegakaryocytic thrombocytopenia

Amelia cleft lip palate hydrocephalus iris coloboma

Amelia facial dysmorphism

Amelogenesis imperfecta

Amelogenesis Imperfecta hypomaturation type

Amelogenesis imperfecta local hypoplastic form

Amelogenesis imperfecta nephrocalcinosis

Amelogenesis imperfecta pigmented hypomaturation type

Ameloonychohypohidrotic syndrome

Aminoacidopathies

Aminoaciduria

Aminoacylase 1 deficiency

Aminopterin antenatal infection

Aminopterin like syndrome without aminopterin

Amniotic bands

Ampola syndrome

Amychophobia

Amyloid angiopathy

Amyloid Neuropathies

Amyloid polyneuropathy, transthyretin related

Amyloidosis

Amyloidosis of gingiva and conjunctiva mental retardation

Amyloidosis, familial visceral

Amyoplasia

Amyoplasia mandibulofacial dysostosis

Amyotonia congenita

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis type 2

Amyotrophy, monomelic

Anablephobia

Anal Cancer

Anaphylaxis

Anaplastic large cell lymphoma

Anaplastic small cell lymphoma

Anauxetic dysplasia

Ancylostoma duodenale

Andersen Tawil syndrome

Andersen's disease

Androgen insensitivity syndrome (AIS)

Androgen insensitivity syndrome, partial

Androgenetic alopecia

Anemia, hereditary spherocytic hemolytic

Anemia, Hypoplastic, Congenital

Anemia, Sideroblastic

Anemia, sideroblastic spinocerebellar ataxia
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