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:
Limb undergrowth (HP:0009826)

Parent Node:
Mesomelia (HP:0003027)

..Starting node
..Mesomelic arm shortening (HP:0005011)

Term ID:

5011

Name:

Mesomelic arm shortening

Synonym:

Mesomelia of the upper limbs; Upper limb brachymesomelia

Definition:

Shortening of the middle parts of the arm in relation to the upper and terminal segments.

Comments:

Reference:

HP:0005011

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acromesomelia (HP:0003086)

Mesomelic leg shortening (HP:0004987)

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:0005011	HP:0005011	Mesomelic arm shortening	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0005011	HP:0005011	Mesomelic arm shortening	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0005011	HP:0005011	Mesomelic arm shortening	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	HP:0040283 - Occasional	493
HP:0005011	HP:0005011	Mesomelic arm shortening	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120

Genes (4) :EIF4A3 ESCO2 FLNA ROR2

Diseases (4) :OMIM:268305 ORPHA:3103 OMIM:300244 OMIM:268310

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