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 |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007804 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D054975 NCIT:C84987 DOID:9248 SCTID:56677004 ICD10:D33.0 OMIM:146510 GARD:0007305 UMLS:C0265220 Orphanet:672 ICD9:759.89 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84987 http://identifiers.org/mesh/D054975 http://www.orpha.net/ORDO/Orphanet_672 http://identifiers.org/snomedct/56677004 http://linkedlifedata.com/resource/umls/id/C0265220 |
|
| excluded from QC check |
http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql |
|
| 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 |
|
| id |
MONDO:0007804 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Pallister-hall syndrome |
|
| notation |
MONDO:0007804 |
|
| prefLabel |
Pallister-hall syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome |
|
| 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019827 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/MONDO_0015246 |