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:
Abnormal axial skeleton morphology (HP:0009121)

Grandparent Node:
Disproportionate short stature (HP:0003498)

Parent Node:
Disproportionate short-trunk short stature (HP:0003521)

..Starting node
..Infancy onset short-trunk short stature (HP:0011406)

Term ID:

11406

Name:

Infancy onset short-trunk short stature

Synonym:

Short-trunk dwarfism, identifiable in infancy

Definition:

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.

Comments:

Reference:

HP:0011406

Genes and Diseases:

Child Nodes:

Sister Nodes:

Childhood-onset short-trunk short stature (HP:0008922)

Lethal short-trunk short stature (HP:0011404)

Neonatal short-trunk short stature (HP:0008857)

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:0011406	HP:0011406	Infancy onset short-trunk short stature	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0011406	HP:0011406	Infancy onset short-trunk short stature	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0011406	HP:0011406	Infancy onset short-trunk short stature	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19

Genes (3) :BRF1 CCN6 PUF60

Diseases (3) :ORPHA:444072 ORPHA:1159 ORPHA:508488

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