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:
Disproportionate short-limb short stature (HP:0008873)

Grandparent Node:
Limb undergrowth (HP:0009826)

Parent Node:
Rhizomelia (HP:0008905)

..Starting node
..Rhizomelic leg shortening (HP:0012106)

Term ID:

12106

Name:

Rhizomelic leg shortening

Synonym:

Definition:

Disproportionate shortening of the proximal segment of the leg (i.e. the femur).

Comments:

Reference:

HP:0012106

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesomelic/rhizomelic limb shortening (HP:0005026)

Rhizo-meso-acromelic limb shortening (HP:0005069)

Rhizomelic arm shortening (HP:0004991)

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:0012106	HP:0012106	Rhizomelic leg shortening	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0012106	HP:0012106	Rhizomelic leg shortening	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24

Genes (2) :CSPP1 KIAA0586

Diseases (1) :ORPHA:397715

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