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
..Mesomelic short stature (HP:0008845)

Term ID:

8845

Name:

Mesomelic short stature

Synonym:

Dwarfism, short limb mesomelic; Mesomelic dwarfism; Short stature, disproportionate mesomelic; Short stature, mesomelic

Definition:

A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).

Comments:

Reference:

HP:0008845

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Lethal short-limbed short stature (HP:0008909)

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:0008845	HP:0008845	Mesomelic short stature	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0008845	HP:0008845	Mesomelic short stature	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133

Genes (2) :SHOX TRIP11

Diseases (2) :OMIM:249700 OMIM:184260

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