Human Phenotype Ontology 
Grandparent Node:
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Abnormal skull morphology (HP:0000929)help
Parent Node:
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Abnormal sella turcica morphology (HP:0002679)help
..Starting node
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Large sella turcica (HP:0002690)help
Term ID: 2690
Name: Large sella turcica
Synonym: Big sella turcica; Enlarged sella turcica; Hyperplasia of hypophysial fossa; Hyperplasia of pituitary fossa; Hyperplasia of sella turcica; Large hypophysial fossa; Large pituitary fossa; Prominent sella turcica
Definition: An abnormal enlargement of the sella turcica.
Comments:
Reference: HP:0002690
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDeformed sella turcica (HP:0002681) help
..expandDuplication of the sella turcica (HP:0040304) help
..expandSmall sella turcica (HP:0010538) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002690HP:0002690Large sella turcica0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0002690HP:0002690Large sella turcica0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0002690HP:0002690Large sella turcica0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0002690HP:0002690Large sella turcica0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0002690HP:0002690Large sella turcica0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0002690HP:0002690Large sella turcica0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0002690HP:0002690Large sella turcica0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0002690HP:0002690Large sella turcica0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0002690HP:0002690Large sella turcica0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0002690HP:0002690Large sella turcica0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0002690HP:0002690Large sella turcica0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0002690HP:0002690Large sella turcica0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0002690HP:0002690Large sella turcica0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0002690HP:0002690Large sella turcica0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0002690HP:0002690Large sella turcica0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0002690HP:0002690Large sella turcica0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5


Genes (15) :ABCC9 ATRX BRAF CDH23 GLB1 GNPTAB NR3C1 PCNT SOST TBC1D2B TP53 TSHB USP48 USP8 ZSWIM6

Diseases (10) :OMIM:239850 ORPHA:96253 ORPHA:79255 OMIM:252500 OMIM:210720 OMIM:269500 ORPHA:397973 ORPHA:90674 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.