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
..Lethal short-limbed short stature (HP:0008909)

Term ID:

8909

Name:

Lethal short-limbed short stature

Synonym:

Lethal micromelic dwarfism; Lethal short-limbed dwarfism

Definition:

Comments:

Reference:

HP:0008909

Genes and Diseases:

Child Nodes:

Sister Nodes:

Childhood onset short-limb short stature (HP:0011405)

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:0008909	HP:0008909	Lethal short-limbed short stature	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0008909	HP:0008909	Lethal short-limbed short stature	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0008909	HP:0008909	Lethal short-limbed short stature	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145

Genes (1) :FGFR3

Diseases (3) :ORPHA:1860 OMIM:187600 OMIM:187601

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