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- Chromosome 15q trisomy
- Chromosome 15q partial deletion
- Adducted thumb syndrome
- CDG syndrome
- Langer-Giedion syndrome
- Weissenbacher-Zweymüller syndrome
- Schmitt Gillenwater Kelly syndrome
- Acrofacial dysostosis, Nager type
- Occipital horn syndrome
- Haemophilia C
- ALA dehydratase deficiency
- Erythropoietic protoporphyria
- Adenosine deaminase deficiency
- Craniodiaphyseal dysplasia
- Hereditary fructose intolerance
- Beckwith-Wiedemann syndrome
- Gardner's syndrome
- Alpha-mannosidosis
- Hereditary multiple exostoses
- Copper toxicosis
- Tylosis
- Oculopharyngeal muscular dystrophy
- Immunodeficiency, centromere instability and facial anomalies syndrome
- Berdon syndrome
- Incontinentia pigmenti
- Myeloperoxidase deficiency
- 5q- syndrome
- Turcot syndrome
- Fukuyama congenital muscular dystrophy
- Myopathy
- Abderhalden-Kaufmann-Lignac syndrome
- Mulibrey nanism
- Gitelman syndrome
- Torsion dystonia
- Van der Woude syndrome
- Myelokathexis
- Channelopathy
- Salla disease
- Mitochondrial trifunctional protein deficiency
- Spondyloperipheral dysplasia
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Sideroblastic anemia
- VACTERL association
- Myotonia congenita
- Carpenter syndrome
- Trisomy 9
- Metachondromatosis
- Glycogen storage disease type III
- Nullisomic
- Kearns-Sayre syndrome
- ABCD syndrome
- Acatalasemia
- Van Goethem syndrome
- Behr's syndrome
- Thomsen disease
- Aspartylglycosaminuria
- Engelmann syndrome
- Walker-Warburg syndrome
- Aceruloplasminemia
- African iron overload
- Nijmegen breakage syndrome
- Asymmetric crying facies
- Blue diaper syndrome
- ZAP70 deficiency
- Neonatal hemochromatosis
- Impossible syndrome
- Apparent mineralocorticoid excess
- 2,8 dihydroxy-adenine urolithiasis
- Malonyl-CoA decarboxylase deficiency
- 6-Pyruvoyltetrahydropterin synthase deficiency
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- 2,4 Dienoyl-CoA reductase deficiency
- Flynn Aird syndrome
- Liddle's syndrome
- Platyspondylic lethal skeletal dysplasia, Torrance type
- GAPO syndrome
- Simpson-Golabi-Behmel syndrome
- Recessive multiple epiphyseal dysplasia
- Arakawa's syndrome II
- Galloway Mowat syndrome
- 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
- Hajdu-Cheney syndrome
- Dextra cardia
- Pallister-Hall syndrome
- 48,XXYY syndrome
- Arginemia
- Polychromia
- Laurence-Moon syndrome
- Larsen syndrome
- Absent radius
- 2-Methylbutyryl-CoA dehydrogenase deficiency
- ATR-X
- Abruzzo Erickson syndrome
- 49 XXXXY syndrome
- Nail-patella syndrome
- Wikipedia:WikiProject Medicine/Stub sorting
- MERRF syndrome
- Template:Genetic-disorder-stub
- Acatalasia
- Multiple Osteochondroma
- Carbamoyl phosphate synthetase I deficiency
- Benjamin syndrome
- Axenfeld syndrome
- Fetal Dilantin Syndrome
- Ring chromosome 20 syndrome
- Wikipedia:WikiProject Dentistry/Stub sorting
- Craniofrontonasal syndrome
- Guevodoces
- Bassen-Kornzweig syndrome
- Albright syndrome
- Parry-Romberg syndrome
- Renal-coloboma syndrome
- Branchio-Oto-Renal Syndrome
- XLH
- Symbrachydactyly
- Triose Phosphate Isomerase deficiency
- Derivative 22 syndrome
- Myoneurogenic gastrointestinal encephalopathy
- KRAS
- Congenital myopathy
- Rothmund-Thomson Syndrome
- Oguchi disease
- Allan Herndon syndrome
- 17-beta-hydroxysteroid dehydrogenase deficiency