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:
Limb undergrowth (HP:0009826)

Parent Node:
Micromelia (HP:0002983)

..Starting node
..Severe limb shortening (HP:0200083)

Term ID:

200083

Name:

Severe limb shortening

Synonym:

Severe limb shortening

Definition:

Comments:

Reference:

HP:0200083

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200083	HP:0200083	Severe limb shortening	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0200083	HP:0200083	Severe limb shortening	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133

Genes (2) :COL2A1 TRIP11

Diseases (2) :OMIM:151210 OMIM:200600

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