| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D007621 |
Karyotyping |
Mapping of the KARYOTYPE of a cell. |
Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis |
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| D008297 |
Male |
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Males |
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| D011859 |
Radiography |
Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). |
Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic |
|
| D001933 |
Brain Stem |
The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA. |
Brainstem,Truncus Cerebri,Brain Stems,Brainstems,Cerebri, Truncus,Cerebrus, Truncus,Truncus Cerebrus |
|
| D002531 |
Cerebellum |
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills. |
Cerebella,Corpus Cerebelli,Parencephalon,Cerebellums,Parencephalons |
|
| D002879 |
Chromosomes, Human, Pair 10 |
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. |
Chromosome 10 |
|
| D002895 |
Chromosomes, Human, Pair 5 |
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5). |
Chromosome 5 |
|
| D003410 |
Cri-du-Chat Syndrome |
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). |
5p Deletion Syndrome,Chromosome 5p- Syndrome,5p Minus Syndrome,5p- Syndrome,Cat Cry Syndrome,Chromosome 5 Short Arm Deletion Syndrome,Chromosome 5p Deletion Syndrome,Crying Cat Syndrome,Deletion of Short Arm of Chromosome 5 Syndrome,5p Deletion Syndromes,5p Minus Syndromes,5p Syndrome,5p- Syndrome, Chromosome,5p- Syndromes,5p- Syndromes, Chromosome,Cat Cry Syndromes,Chromosome 5p- Syndromes,Cri du Chat Syndrome,Cri-du-Chat Syndromes,Crying Cat Syndromes,Deletion Syndrome, 5p,Deletion Syndromes, 5p,Minus Syndrome, 5p,Minus Syndromes, 5p,Syndrome, 5p Deletion,Syndrome, 5p Minus,Syndrome, 5p-,Syndrome, Cat Cry,Syndrome, Chromosome 5p-,Syndrome, Cri-du-Chat,Syndrome, Crying Cat,Syndromes, 5p Deletion,Syndromes, 5p Minus,Syndromes, Cat Cry,Syndromes, Chromosome 5p-,Syndromes, Cri-du-Chat,Syndromes, Crying Cat |
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| D004314 |
Down Syndrome |
A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) |
Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's |
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