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 leg shortening (HP:0004987)

Term ID:

4987

Name:

Mesomelic leg shortening

Synonym:

Mesomelia of the lower limbs; Mesomelic lower limb shortening

Definition:

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

Comments:

Reference:

HP:0004987

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acromesomelia (HP:0003086)

Mesomelic arm shortening (HP:0005011)

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:0004987	HP:0004987	Mesomelic leg shortening	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0004987	HP:0004987	Mesomelic leg shortening	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	HP:0040283 - Occasional	493
HP:0004987	HP:0004987	Mesomelic leg shortening	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040282 - Frequent	270
HP:0004987	HP:0004987	Mesomelic leg shortening	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0004987	HP:0004987	Mesomelic leg shortening	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5

Genes (5) :EIF4A3 FLNA GLI3 NEK1 TBX15

Diseases (5) :OMIM:268305 OMIM:300244 ORPHA:93322 ORPHA:2751 ORPHA:93333

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