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 diaphysis morphology (HP:0000940)

Parent Node:
Abnormality of the medullary cavity of the long bones (HP:0100253)

..Starting node
..Stenosis of the medullary cavity of the long bones (HP:0100254)

Term ID:

100254

Name:

Stenosis of the medullary cavity of the long bones

Synonym:

Definition:

Comments:

Reference:

HP:0100254

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100254	HP:0100254	Stenosis of the medullary cavity of the long bones	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent	8
HP:0100254	HP:0100254	Stenosis of the medullary cavity of the long bones	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0100254	HP:0100254	Stenosis of the medullary cavity of the long bones	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52

Genes (3) :FAM111A MTAP TBCE

Diseases (3) :ORPHA:93325 OMIM:112250 ORPHA:93324

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