Category:Genetic diseases and disorders
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Radiology: Ultrasound · X-ray · Computed tomography · Magnetic resonance · Bone scintigraphy | Anatomical pathology: Gross pathology · Histopathology | Other: Epidemiology (Map → World) | File format: SVG · Video recording |

health problem caused by one or more abnormalities in the genome | |||||
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Subcategories
This category has the following 74 subcategories, out of 74 total.
A
- Androgen insensitivity syndrome (13 F)
B
- Barth syndrome (1 F)
- Branchio-oto-renal syndrome (5 F)
C
- CHARGE syndrome (4 F)
- Chromosomal instability (10 F)
D
- DDX3X syndrome (1 F)
- DICER1 syndrome (1 F)
- Du Pan syndrome (2 F)
E
F
- Freeman–Sheldon syndrome (1 F)
G
- Glutaric aciduria type 1 (2 F)
H
- Hereditary angioedema (1 F)
I
K
- Keratosis pilaris (6 F)
- Klippel–Trénaunay syndrome (4 F)
- Kosaki overgrowth syndrome (5 F)
M
N
- Naxos syndrome (5 F)
- Nicolaides-Baraitser syndrome (11 F)
O
- OMIM (4 F)
P
- Piebaldism (3 F)
- Propionic acidemia (1 F)
- Pseudohypoparathyroidism (5 F)
R
- Robinow syndrome (7 F)
S
- Sheldon-Hall syndrome (1 F)
- Sideroblastic anemia (3 F)
- Silver–Russell syndrome (7 F)
T
W
X
- Xp11.2 duplication (1 F)
Media in category "Genetic diseases and disorders"
The following 152 files are in this category, out of 152 total.
- 1 TPSAB1 non porteurs d'alpha tryptasémie héréditaire V1.jpg 1,428 × 614; 136 KB
- 1 TPSAB1 non porteurs d'alpha tryptasémie héréditaire VF.jpg 1,428 × 614; 138 KB
- 1q21 1 schizophrenia autism DE.svg 527 × 185; 4 KB
- 2 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aa VF.jpg 1,524 × 602; 179 KB
- 2020 First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient RUS.pdf 1,239 × 1,752, 8 pages; 1.11 MB
- 2020 Pharmacoresistant Epilepsy in Childhood Think of the Cerebral Folate Deficiency a Treatable Disease RUS.pdf 1,239 × 1,752, 13 pages; 1.79 MB
- 2q37 monosomy.png 76 × 370; 5 KB
- 3 TPSAB1 porteurs d'alpha tryptasémie héréditaire 2aa V1.jpg 1,008 × 574; 137 KB
- 3 TPSAB1 porteurs d'alpha tryptasémie héréditaire 2aa VF.jpg 1,008 × 574; 135 KB
- 4 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaa V1.jpg 1,956 × 614; 211 KB
- 4 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaa VF.jpg 1,956 × 614; 211 KB
- 5 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaaaa V1.jpg 2,854 × 602; 264 KB
- 5 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaaaa VF.jpg 2,854 × 602; 263 KB
- 6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V1.jpg 2,228 × 734; 202 KB
- 6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V2.1.jpg 2,228 × 734; 200 KB
- 6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V2.2.jpg 2,228 × 734; 199 KB
- 6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire VF.jpg 2,228 × 734; 205 KB
- 8 différentes formes de tryptase (matures et immatures).jpg 2,308 × 1,000; 395 KB
- ALS PDC BMAA concentration.svg 503 × 311; 197 KB
- Androgen receptor 3-d model.jpg 1,170 × 933; 562 KB
- Angio MR.jpg 589 × 586; 58 KB
- Auditory brainstem response thresholds in Oblivion heterozygous and wildtype animals.png 1,993 × 2,236; 254 KB
- Autorecessive autosomique.png 400 × 400; 12 KB
- Autorecessive autosomique2.png 400 × 400; 9 KB
- Autorecessive.jpg 307 × 396; 68 KB
- Autosomaal Dominant Stamboom.svg 720 × 640; 47 KB
- Autosomal Dominant Pedigree Chart2.svg 513 × 443; 195 KB
- BBS Organs.jpg 569 × 640; 209 KB
- BilateralFrontalPolymicrogyria NL.png 808 × 1,433; 176 KB
- BilateralgeneralizedPolymicrogyria NL.png 796 × 1,628; 196 KB
- BilateralPerisylvianPolymicrogyria NL.png 791 × 1,455; 184 KB
- Bombay-bg.PNG 232 × 169; 3 KB
- Brachydaktylie Typ D.jpg 480 × 254; 29 KB
- Brja restraso del 77.JPG 530 × 325; 52 KB
- Brugada.jpg 568 × 620; 193 KB
- Cadasil NL.png 804 × 1,503; 206 KB
- Canavan NL.png 793 × 1,517; 207 KB
- Canavan Patient Insights Network.png 823 × 1,663; 246 KB
- Canavan PIN Infographic.png 1,348 × 1,667; 279 KB
- Causadm.png 552 × 402; 6 KB
- Centric fusion Robertsonian translocation.png 1,500 × 1,500; 16 KB
- CFCSyndrome BRAF NL.png 820 × 1,565; 225 KB
- CFCSyndrome MEK1 NL.png 797 × 1,495; 204 KB
- CFCSyndrome NL.png 812 × 1,459; 211 KB
- CFTRdel4.png 275 × 230; 7 KB
- Christos S. Bartsocas.jpg 512 × 768; 67 KB
- CisAB.PNG 512 × 384; 7 KB
- CisAB.svg 294 × 331; 4 KB
- CPT1 2 NL.png 804 × 1,521; 205 KB
- DandyWalker NL.png 809 × 1,553; 213 KB
- Diagram-pms.PNG 723 × 446; 31 KB
- DYT1.PNG 836 × 231; 22 KB
- Ecgqt.png 477 × 100; 14 KB
- Fabry symptomen.jpg 659 × 855; 183 KB
- Faktor-VIII.jpg 2,067 × 1,378; 935 KB
- Father sick x linke.jpeg 960 × 720; 38 KB
- Flagella in thymus.jpg 1,024 × 1,024; 123 KB
- Fluorogenic-Substrates-for-Visualizing-Acidic-Organelle-Enzyme-Activities-pone.0156312.s001.ogv 9.0 s, 1,920 × 1,080; 3.12 MB
- FMR1-Struktur.png 700 × 244; 42 KB
- FMR1-Struktur1.png 700 × 244; 23 KB
- Från saliv till DNA-kod.webm 1 min 23 s, 1,440 × 1,024; 41.01 MB
- Gene promoters according to T1D, IDM and T2D.png 2,205 × 1,469; 790 KB
- Genesalterados.jpg 725 × 463; 137 KB
- Genetic transmission of hemophilia (HY).svg 512 × 487; 59 KB
- Gipsbroek.JPG 500 × 208; 34 KB
- Haploinsufficiency graph and explanation.png 1,732 × 913; 96 KB
- Haploinsufficiency graph only.jpg 1,041 × 913; 65 KB
- Hemifilia.png 500 × 600; 61 KB
- Herència mendeliana autosómica recessiva.png 591 × 393; 16 KB
- Hexb.jpg 469 × 173; 15 KB
- Human chromosome diseases set en.png 2,000 × 1,660; 553 KB
- Human chromosome diseases set en.svg 512 × 425; 3.56 MB
- Human eyesight two children and ball normal vision.jpg 216 × 173; 12 KB
- Human eyesight two children and ball with glaucoma.jpg 216 × 173; 6 KB
- IAP monitoring algorithm.jpg 1,121 × 798; 271 KB
- Inborn errors of metabolism.svg 841 × 396; 20 KB
- JeffersonLab.jpg 2,391 × 2,941; 2.03 MB
- Karyotype isochromosomeX.JPG 258 × 271; 13 KB
- Laminopathic nuclei.jpg 334 × 346; 29 KB
- LBRA.jpg 530 × 171; 28 KB
- Liddle.png 600 × 600; 27 KB
- Liddle.svg 522 × 453; 10 KB
- Looking-the-Cow-in-the-Eye-Deletion-in-the-NID1-Gene-Is-Associated-with-Recessive-Inherited-pone.0110628.s008.ogv 1 min 14 s, 854 × 480; 9.85 MB
- LRBA and CTLA4.jpg 300 × 296; 24 KB
- Millerfisch.jpg 148 × 111; 5 KB
- Mutations in alpha actin.jpg 1,200 × 910; 122 KB
- NCBI - Human X Chromosome Cytogenetic Map - Focus G6PD.png 236 × 525; 13 KB
- Nemaline rods.jpg 345 × 345; 11 KB
- Nl-Shock.ogg 7 min 31 s; 4.33 MB
- Non-Disjunction 1.png 1,388 × 1,026; 102 KB
- Non-Disjunction 2.png 1,388 × 1,026; 104 KB
- Nondisjunction Diagrams.svg 512 × 191; 89 KB
- OPN-recombination-chimeras.gif 1,577 × 602; 27 KB
- OPN-recombination-dichromacy.gif 1,577 × 602; 28 KB
- Patró d'herència mendeliana i mitocondrial.png 524 × 410; 49 KB
- PBB Protein DMD image.jpg 500 × 500; 54 KB
- PBB Protein RYR1 image.jpg 434 × 381; 43 KB
- PHAII.jpg 622 × 331; 30 KB
- Phenylalanine hydroxylase mutations 2.svg 1,200 × 694; 868 KB
- Phenylalanine hydroxylase mutations.png 1,356 × 773; 412 KB
- Phenylalanine hydroxylase mutations.svg 1,800 × 1,041; 872 KB
- Phil Chrom.gif 326 × 160; 9 KB
- Philadelphia Chromosom.svg 500 × 400; 57 KB
- Proposed model for the effects of activating substitutions in p110δ.png 958 × 847; 417 KB
- Protein domains of p110delta.png 896 × 162; 57 KB
- Mapa prp.png 243 × 650; 8 KB
- Rhabdoidtumourcell.jpg 128 × 144; 38 KB
- Role of SON in ZTTK Syndrome.png 2,304 × 1,728; 203 KB
- SBB organos.JPG 569 × 640; 92 KB
- SOD mutations.png 1,993 × 1,353; 806 KB
- STAT3.png 567 × 119; 30 KB
- Summit Charts a Course to Uncover the Origins of Genetic Diseases.png 2,669 × 1,835; 2.45 MB
- Symptomen Gaucher.jpg 524 × 627; 112 KB
- Test biosynth 17BHSD3.jpg 973 × 676; 132 KB
- Therapiesaeulen der OI.jpg 419 × 293; 143 KB
- Therapiesaeulen der OI.svg 420 × 320; 7 KB
- TMEM106B SNPs associated with neurodegenerative diseases.png 1,788 × 984; 198 KB
- Trisomy Awareness Ribbon.jpg 487 × 593; 71 KB
- Vermoedelijke relatie binnen 1q21.1.jpg 438 × 152; 8 KB
- Wikipedia image1.jpg 960 × 720; 50 KB
- Wikipediaimage2.jpg 960 × 720; 64 KB
- WNK1.JPG 325 × 215; 15 KB
- WNK4.JPG 212 × 221; 10 KB
- X dominant affected father uk.svg 955 × 965; 80 KB
- X dominant affected father-ca.svg 962 × 1,000; 161 KB
- X dominant affected father.svg 955 × 965; 196 KB
- X dominant affected mother uk.svg 955 × 965; 80 KB
- X dominant affected mother-ca.svg 960 × 1,000; 161 KB
- X dominant affected mother.svg 955 × 965; 195 KB
- X recessive carrier mother ku.svg 955 × 965; 85 KB
- X recessive carrier mother NL.svg 970 × 965; 74 KB
- X recessive carrier mother uk.svg 955 × 965; 85 KB
- X recessive carrier mother-ca.svg 1,001 × 1,001; 186 KB
- X recessive carrier mother.svg 955 × 965; 221 KB
- XligadoRecesivo v1.1.jpg 307 × 396; 32 KB
- Գենետիկ հիվանդությունների բուժման ալգորիթմ.png 909 × 555; 28 KB
- ヒトのフェニルアラニンの代謝経路と遺伝病.svg 1,700 × 700; 73 KB