Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal skull morphology (HP:0000929)

Parent Node:
Abnormal sella turcica morphology (HP:0002679)

..Starting node
..Small sella turcica (HP:0010538)

Term ID:

10538

Name:

Small sella turcica

Synonym:

Hypoplasia of hypophseal fossa; Hypoplasia of pituitary fossa; Hypoplasia of sella turcica; Small hypophyseal fossa; Small pituitary fossa

Definition:

An abnormally small sella turcica.

Comments:

Reference:

HP:0010538

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deformed sella turcica (HP:0002681)

Duplication of the sella turcica (HP:0040304)

Large sella turcica (HP:0002690)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010538	HP:0010538	Small sella turcica	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	38
HP:0010538	HP:0010538	Small sella turcica	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	43
HP:0010538	HP:0010538	Small sella turcica	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	23

Genes (3) :BMP4 LHX4 NAA10

Diseases (3) :OMIM:607932 OMIM:262700 OMIM:300855

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