loading...| Preferred Name | Pallister-Hall syndrome | |
| Synonyms |
Pallister-Hall syndrome Pallister Hall syndrome ano-cerebro-digital syndrome PHS hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly |
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| Definitions |
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007804 |
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| altLabel |
Pallister-Hall syndrome Pallister Hall syndrome ano-cerebro-digital syndrome PHS hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly |
|
| definition |
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. |
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| has_exact_synonym |
Pallister-Hall syndrome Pallister Hall syndrome ano-cerebro-digital syndrome PHS hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly |
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| IAO_0000233 | ||
| label |
Pallister-Hall syndrome |
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| prefixIRI |
MONDO:0007804 |
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| prefLabel |
Pallister-Hall syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome |
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| textual definition |
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015246 http://purl.obolibrary.org/obo/MONDO_0800066 |