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
..Lethal short-trunk short stature (HP:0011404)

Term ID:

11404

Name:

Lethal short-trunk short stature

Synonym:

Lethal short-trunk dwarfism

Definition:

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.

Comments:

Reference:

HP:0011404

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Infancy onset short-trunk short stature (HP:0011406)

Neonatal short-trunk short stature (HP:0008857)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011404	HP:0011404	Lethal short-trunk short stature	0	CL E G H

Genes (0) :

Diseases (0) :

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