17 Beta-hydroxysteroid dehydrogenase deficiency

Название17 Beta-hydroxysteroid dehydrogenase deficiency
Дата конвертации03.01.2013
Размер1.07 Mb.
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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-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


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


Acanthamoeba infection



Acanthosis nigricans

Acanthosis nigricans muscle cramps acral enlargement



Accessory deep peroneal nerve

Accessory navicular bone

Accessory pancreas


Acetyl-coa acetyltransferase 2 deficiency

Acetylcarnitine deficiency


Achalasia Addisonianism Alacrimia syndrome

Achalasia alacrimia syndrome

Achalasia microcephaly

Achalasia, familial esophageal

Achard syndrome

Achard-Thiers syndrome


Achondrogenesis type 1A

Achondrogenesis type 1B

Achondrogenesis type 2

Achondrogenesis, type 3

Achondrogenesis, type 4


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


Acrocephaly pulmonary stenosis mental retardation


Acrodermatitis enteropathica


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


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


Acrorenal mandibular syndrome

Acrorenal syndrome recessive

Acrorenoocular syndrome


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


Adenocarcinoid tumor

Adenocarcinoma of lung

Adenoid cystic carcinoma

Adenoma of the adrenal gland


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, autosomal, neonatal form

Adrenoleukodystrophy, X-linked


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



African trypanosomiasis

Agammaglobulinemia, non-Bruton type

Aganglionosis, total intestinal

Aggressive fibromatosis

Aglossia and Situs Inversus



Agyria pachygyria polymicrogyria

Agyria-pachygyria type 1


Ahumada-Del Castillo syndrome

Aicardi Goutieres syndrome

Aicardi syndrome


AIDS Dementia Complex

AIDS dysmorphic syndrome



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 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


Aleukemic leukemia cutis

Alexander's disease


Allain Babin Demarquez syndrome

Allanson Pantzar McLeod syndrome

Allergic angiitis

Allergic autoimmune thyroiditis

Allergic bronchopulmonary aspergillosis

Allergic encephalomyelitis



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-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



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


Ambral syndrome

Ambras syndrome



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



Aminoacylase 1 deficiency

Aminopterin antenatal infection

Aminopterin like syndrome without aminopterin

Amniotic bands

Ampola syndrome


Amyloid angiopathy

Amyloid Neuropathies

Amyloid polyneuropathy, transthyretin related


Amyloidosis of gingiva and conjunctiva mental retardation

Amyloidosis, familial visceral


Amyoplasia mandibulofacial dysostosis

Amyotonia congenita

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis type 2

Amyotrophy, monomelic


Anal Cancer


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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17 Beta-hydroxysteroid dehydrogenase deficiency iconBeta Agonists: -recall the signaling pathway: Gs  activate adenylate cyclase  increase camp  ?? -recall where Beta receptors are located: Beta1> heart / Beta2> lungs, blood vessels Beta 2 Agonists

17 Beta-hydroxysteroid dehydrogenase deficiency iconDelta Sigma Phi-Beta Beta Chapter

17 Beta-hydroxysteroid dehydrogenase deficiency iconPerbandingan beta saham syariah dan beta saham non syariah dalam analisa ekonomi makro, industri dan karakteristik perusahaan ardi hamzah simposium Riset Ekonomi II surabaya, 23-24 November 2005

17 Beta-hydroxysteroid dehydrogenase deficiency iconAffiliation : International Council for Control of Iodine Deficiency Disorders (iccidd)

17 Beta-hydroxysteroid dehydrogenase deficiency icon2012; accepted, in press doi: 10. 1021/jm300833h 35. "High-Throughput Screening for Small-Molecule Inhibitors of Plasmodium falciparum Glucose-6-Phosphate Dehydrogenase 6-Phosphogluconolactonase."

17 Beta-hydroxysteroid dehydrogenase deficiency iconBeta Theta Pi

17 Beta-hydroxysteroid dehydrogenase deficiency iconMilya Sawan da beta

17 Beta-hydroxysteroid dehydrogenase deficiency iconThe Pion Beta Decay Experiment

17 Beta-hydroxysteroid dehydrogenase deficiency iconAlpha Beta of Theta XI at the University of Illinois

17 Beta-hydroxysteroid dehydrogenase deficiency iconBeta Pi Chapter Committees for 2012-2014

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