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:
Asymmetric growth (HP:0100555)

Grandparent Node:
Limb undergrowth (HP:0009826)

Parent Node:
Hemiatrophy (HP:0100556)

..Starting node
..Hemihypotrophy of lower limb (HP:0200053)

Term ID:

200053

Name:

Hemihypotrophy of lower limb

Synonym:

Asymmetric leg shortening; Asymmetric lower limb shortness

Definition:

Shortening of a leg affecting only one side.

Comments:

Reference:

HP:0200053

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hemiatrophy of lower limb (HP:0100557)

Hemiatrophy of upper limb (HP:0100558)

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:0200053	HP:0200053	Hemihypotrophy of lower limb	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0200053	HP:0200053	Hemihypotrophy of lower limb	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0200053	HP:0200053	Hemihypotrophy of lower limb	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0200053	HP:0200053	Hemihypotrophy of lower limb	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (4) :BPTF EFNB1 PSMD12 ZNF699

Diseases (3) :ORPHA:529962 OMIM:304110 OMIM:619488

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