Preferred Name | Prader Willi syndrome | |
Synonyms |
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Definitions |
congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15. |
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ID |
http://purl.bioontology.org/ontology/CSP/1849-7731 |
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cui |
C0032897 |
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definition |
congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15. |
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DID |
1849-7731 |
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Inverse of RB |
http://purl.bioontology.org/ontology/CSP/1840-2225 http://purl.bioontology.org/ontology/CSP/0944-7801 |
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notation |
1849-7731 |
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prefLabel |
Prader Willi syndrome |
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tui |
T047 |
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subClassOf |
http://purl.bioontology.org/ontology/CSP/1840-2225 http://purl.bioontology.org/ontology/CSP/0944-7801 |