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Smith-magenis Syndrome
Smith-Magenis syndrome
: Reference
Overview
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Related in the Kosmos
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Syndromes
(16)
Warkany syndrome 2
22q11.2 deletion syndrome
Fetofetal transfusion
Prader Willi syndrome
Miller-Dieker syndrome
Miller-Dieker syndrome
47,XYY
Sotos syndrome
Hereditary sensory and autonomic neuropathies
Williams syndrome
Triple-x females
Turner syndrome
Silver russell syndrome
Klinefelter
Ablepharon macrostomia syndrome
Stickler syndrome
Wolf-Hirschhorn syndrome
more...
Genetic disorders
(43)
49 xxxxy syndrome
49, XXXXX
Chromosomal abnormalities
Chromosome 5q deletion syndrome
Shwachman syndrome
Shwachman syndrome
Glutaricaciduria
48,xxxx
Trisomy 22
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Leukodystrophy, globoid cell
Trisomy 16
Jacobsen syndrome
Thrombocytopenia absent radius
Smith-lemli-opitz syndrome
VATER syndrome
Galactosemias
Langer-giedion syndrome
Pallister-Hall syndrome
Trisomy 9
Simpson-Go- labi-Behmel syndrome
SCAD deficiency
Multiple hereditary exostoses
Muenke syndrome
Microdeletion
Aneuploidy
Laurence Moon syndrome
Popliteal pterygium syndrome
Tetrasomy
Spinal muscular atrophy
Warkany syndrome 2
22q11.2 deletion syndrome
Prader Willi syndrome
Miller-Dieker syndrome
47,XYY
Hereditary sensory and autonomic neuropathies
Williams syndrome
Triple-x females
Turner syndrome
Klinefelter
Ablepharon macrostomia syndrome
Stickler syndrome
Wolf-Hirschhorn syndrome
more...
Rare diseases
(9)
49, XXXXX
Chromosome 5q deletion syndrome
48,xxxx
Leukodystrophy, globoid cell
Williams syndrome
Williams syndrome
Ablepharon macrostomia syndrome
Multiple hereditary exostoses
Stickler syndrome
Popliteal pterygium syndrome
more...
Blood disorders
Acute myeloblastic leukemia with maturation
Acute lymphoblastic leukemia
Chromosome 5q deletion syndrome
Cytogenetics
(20)
Chromosome
Fluorescence in situ hybridization
Karyotype
Translocations
Aneuploidy
Aneuploidy
Autosome
Chromosomal abnormalities
Colcemid
Fragile sites
Germ plasm
Homologous chromosome
Monosomy
Ploidy
Pseudoautosomal region
Robertsonian translocation
Synapsis
Tetrasomy
Trisomy
Uniparental disomy
X chromosome
more...
Chromosomes
(57)
Chromosome 17
Subtelomere
AZF1
Allosome
Autosome
Autosome
Centromere
Chromatid
Chromomere
Chromosomal abnormalities
Chromosomal inversion
Chromosome
Chromosome 1 (human)
Chromosome 10 (human)
Chromosome 11 (human)
Chromosome 12 (human)
Chromosome 13 (human)
Chromosome 14 (human)
Chromosome 15 (human)
Chromosome 16 (human)
Chromosome 18 (human)
Chromosome 19 (human)
Chromosome 2 (human)
Chromosome 20 (human)
Chromosome 21 (human)
Chromosome 22 (human)
Chromosome 3 (human)
Chromosome 4 (human)
Chromosome 5 (human)
Chromosome 6 (human)
Chromosome 7 (human)
Chromosome 8 (human)
Chromosome 9 (human)
Chromosome conformation capture
Chromosome engineering
Chromosome regions
Chromosome segregation
Derivative chromosome
Dicentric chromosome
Dyad (biology)
G banding
Human β-globin locus
Inchrosil
Isochromosome
Karyotype
Lampbrush chromosome
Locus (genetics)
Marker chromosome
Personalized medicine
Proline-Rich Coiled Coil 1
Ring chromosome
Satellite chromosome
Small supernumerary marker chromosome
Syntelic
Telomere
Translocations
X chromosome
Y chromosome
more...
Genetics
Contiguous gene
Clinical genetics
Chromosomes
47,XYY
Microdeletion
Cytogenetics
Types of cancer
Acute megakaryoblastic leukemia
Spongioblastoma
Acute lymphoblastic leukemia
Gene
FOXO1
MKL1
RBM15
SMCR7L
Diseases and disorders
(58)
Chromosome 17 deletion
Craniofrontonasal dysplasia
Glossopharyngeal nerve diseases
Floating harbor syndrome
Type i complex regional pain syndrome
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Histiocytosis non-langerhans-cell
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Intervertebral disk displacement
Opitz syndrome
Rosenthal syndrome
Progressive osseous heteroplasia
Brachial plexus neuropathies
Cat eye syndrome
Optic neuropathy, ischemic
X-linked hypophosphatemic rickets
Selective mutism
Acute myeloblastic leukemia with maturation
Chromosomal abnormalities
22q11.2 deletion syndrome
Acute megakaryoblastic leukemia
Fetofetal transfusion
Shwachman syndrome
Acute lymphoblastic leukemia
Glutaricaciduria
Prader Willi syndrome
48,xxxx
Trisomy 22
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
47,XYY
Sotos syndrome
Hereditary sensory and autonomic neuropathies
Leukodystrophy, globoid cell
Jacobsen syndrome
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Steroid sulfatase deficiency
Triple-x females
Thrombocytopenia absent radius
VATER syndrome
Galactosemias
Klinefelter
Langer-giedion syndrome
Pallister-Hall syndrome
Trisomy 9
Ablepharon macrostomia syndrome
Spongioblastoma
Multiple hereditary exostoses
Muenke syndrome
Stickler syndrome
Aneuploidy
Popliteal pterygium syndrome
Spinal muscular atrophy
more...
See also
(19)
Diseases and disorders
Abl gene
Ellen Magenis
IgH
Purpura, schoenlein-henoch
Purpura, schoenlein-henoch
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Steroid sulfatase deficiency
Human chromosome
Thoracic vertebrae
Array CGH
Stain Studio
WWE Reckless Intent
Sex chromosome
RAI1
Charcot-Marie-Tooth disease
Serine hydroxymet- hyltransferase
Hallervorden-spatz syndrome
Short stature
more...
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