Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body height (HP:0000002)

..Starting node
..Abnormal upper to lower segment ratio (HP:0012772)

Term ID:

12772

Name:

Abnormal upper to lower segment ratio

Synonym:

Definition:

A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.

Comments:

Reference:

HP:0012772

Genes and Diseases:

Child Nodes:

........

Reduced upper to lower segment ratio (HP:0012773)

........

Increased upper to lower segment ratio (HP:0012774)

Sister Nodes:

Short stature (HP:0004322)

Tall stature (HP:0000098)

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:0012772	HP:0012772	Abnormal upper to lower segment ratio	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0012772	HP:0012772	Abnormal upper to lower segment ratio	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0012772	HP:0012772	Abnormal upper to lower segment ratio	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0012772	HP:0012773	Reduced upper to lower segment ratio	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0012772	HP:0012774	Increased upper to lower segment ratio	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0012772	HP:0012774	Increased upper to lower segment ratio	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62

Genes (3) :FBN1 FBN2 FGD1

Diseases (3) :OMIM:154700 OMIM:121050 OMIM:305400

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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