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
..Neonatal short-trunk short stature (HP:0008857)

Term ID:

8857

Name:

Neonatal short-trunk short stature

Synonym:

Short-trunk dwarfism identifiable at birth

Definition:

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.

Comments:

Reference:

HP:0008857

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

Lethal short-trunk short stature (HP:0011404)

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:0008857	HP:0008857	Neonatal short-trunk short stature	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0008857	HP:0008857	Neonatal short-trunk short stature	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0008857	HP:0008857	Neonatal short-trunk short stature	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14

Genes (3) :COL2A1 FLNB KIF22

Diseases (3) :OMIM:183900 ORPHA:1190 ORPHA:93360

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