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
..Severe short-limb dwarfism (HP:0008890)

Term ID:

8890

Name:

Severe short-limb dwarfism

Synonym:

Definition:

Comments:

Reference:

HP:0008890

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Lethal short-limbed short stature (HP:0008909)

Mesomelic short stature (HP:0008845)

Neonatal short-limb short stature (HP:0008921)

Rhizomelia (HP:0008905)

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:0008890	HP:0008890	Severe short-limb dwarfism	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent	52
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0008890	HP:0008890	Severe short-limb dwarfism	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9

Genes (5) :FLNB GDF5 LBR NSMCE2 XRCC4

Diseases (6) :ORPHA:1263 ORPHA:968 OMIM:201250 OMIM:215140 ORPHA:1426 ORPHA:436182

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