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 stature (HP:0003498)

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

..Starting node
..Childhood onset short-limb short stature (HP:0011405)

Term ID:

11405

Name:

Childhood onset short-limb short stature

Synonym:

Short-limb dwarfism identifiable during childhood

Definition:

Comments:

Reference:

HP:0011405

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lethal short-limbed short stature (HP:0008909)

Mesomelic short stature (HP:0008845)

Neonatal short-limb short stature (HP:0008921)

Rhizomelia (HP:0008905)

Severe short-limb dwarfism (HP:0008890)

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:0011405	HP:0011405	Childhood onset short-limb short stature	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia	.	89
HP:0011405	HP:0011405	Childhood onset short-limb short stature	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040281 - Very frequent	145
HP:0011405	HP:0011405	Childhood onset short-limb short stature	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145

Genes (2) :COMP FGFR3

Diseases (3) :OMIM:177170 ORPHA:429 OMIM:146000

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