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loading...| Preferred Name | Pallister-Hall syndrome | |
| Synonyms |
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| Definitions |
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9248 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
MESH:D054975 SNOMEDCT_US_2023_03_01:56677004 UMLS_CUI:C0265220 GARD:7305 MIM:146510 NCI:C84987 |
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| definition |
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:9248 |
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| in_subset | ||
| label |
Pallister-Hall syndrome |
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| notation |
DOID:9248 |
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| prefLabel |
Pallister-Hall syndrome |
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| subClassOf |
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