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
..Mesomelic/rhizomelic limb shortening (HP:0005026)

Term ID:

5026

Name:

Mesomelic/rhizomelic limb shortening

Synonym:

Definition:

Comments:

Reference:

HP:0005026

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Rhizomelic arm shortening (HP:0004991)

Rhizomelic leg shortening (HP:0012106)

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:0005026	HP:0005026	Mesomelic/rhizomelic limb shortening	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0005026	HP:0005026	Mesomelic/rhizomelic limb shortening	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66

Genes (2) :ASXL1 SHOX

Diseases (2) :OMIM:605039 ORPHA:2632

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