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 long bone morphology (HP:0011314)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

..Starting node
..Abnormality of the medullary cavity of the long bones (HP:0100253)

Term ID:

100253

Name:

Abnormality of the medullary cavity of the long bones

Synonym:

Abnormality of the marrow cavity of the long bones

Definition:

An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.

Comments:

Reference:

HP:0100253

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Cortical thickening of long bone diaphyses (HP:0005791)

Diaphyseal dysplasia (HP:0100252)

Diaphyseal sclerosis (HP:0003034)

Diaphyseal thickening (HP:0005019)

Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Short diaphyses (HP:0000941)

Slender long bones with narrow diaphyses (HP:0004993)

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:0100253	HP:0100253	Abnormality of the medullary cavity of the long bones	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0100253	HP:0100253	Abnormality of the medullary cavity of the long bones	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0100253	HP:0100253	Abnormality 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:0100253	HP:0100253	Abnormality of the medullary cavity of the long bones	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0100253	HP:0100254	Stenosis of the medullary cavity of the long bones	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent	8
HP:0100253	HP:0100254	Stenosis of the medullary cavity of the long bones	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0100253	HP:0100254	Stenosis of the medullary cavity of the long bones	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52

Genes (3) :FAM111A MTAP TBCE

Diseases (4) :ORPHA:93325 OMIM:127000 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.

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