Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Aplasia/hypoplasia of the extremities (HP:0009815)

Parent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Limb undergrowth (HP:0009826)

..Starting node
..Lower limb undergrowth (HP:0009816)

Term ID:

9816

Name:

Lower limb undergrowth

Synonym:

Hypoplasia involving bones of the lower limbs; Hypoplasia of the lower limbs; Lower limb undergrowth; Underdeveloped lower limb bones

Definition:

Leg shortening because of underdevelopment of one or more bones of the lower extremity.

Comments:

Reference:

HP:0009816

Genes and Diseases:

Child Nodes:

........

Short lower limbs (HP:0006385)

Sister Nodes:

Distal shortening of limbs (HP:0006402)

Hemiatrophy (HP:0100556)

Meromelia (HP:0030728)

Mesomelia (HP:0003027)

Micromelia (HP:0002983)

Rhizomelia (HP:0008905)

Upper limb undergrowth (HP:0009824)

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:0009816	HP:0009816	Lower limb undergrowth	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0009816	HP:0009816	Lower limb undergrowth	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0009816	HP:0009816	Lower limb undergrowth	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome	.	3
HP:0009816	HP:0009816	Lower limb undergrowth	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0009816	HP:0009816	Lower limb undergrowth	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0009816	HP:0009816	Lower limb undergrowth	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0009816	HP:0009816	Lower limb undergrowth	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0009816	HP:0009816	Lower limb undergrowth	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0009816	HP:0009816	Lower limb undergrowth	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009816	HP:0009816	Lower limb undergrowth	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type		52
HP:0009816	HP:0009816	Lower limb undergrowth	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type		52
HP:0009816	HP:0009816	Lower limb undergrowth	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0009816	HP:0009816	Lower limb undergrowth	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009816	HP:0009816	Lower limb undergrowth	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0009816	HP:0009816	Lower limb undergrowth	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0009816	HP:0009816	Lower limb undergrowth	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0009816	HP:0009816	Lower limb undergrowth	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0009816	HP:0006385	Short lower limbs	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0009816	HP:0006385	Short lower limbs	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0009816	HP:0006385	Short lower limbs	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0009816	HP:0006385	Short lower limbs	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0009816	HP:0006385	Short lower limbs	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0009816	HP:0006385	Short lower limbs	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0009816	HP:0006385	Short lower limbs	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0009816	HP:0006385	Short lower limbs	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009816	HP:0006385	Short lower limbs	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52
HP:0009816	HP:0006385	Short lower limbs	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0009816	HP:0006385	Short lower limbs	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0009816	HP:0006385	Short lower limbs	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009816	HP:0006385	Short lower limbs	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0009816	HP:0006385	Short lower limbs	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166

Genes (15) :ALPL ARL6IP6 CHUK COL2A1 EXT1 EXT2 FN1 GNA11 LAMA5 MMP13 NOG PAPSS2 PPIB SHOX SLC26A2

Diseases (14) :OMIM:241500 ORPHA:1556 OMIM:613630 ORPHA:93315 ORPHA:321 OMIM:620076 ORPHA:2501 OMIM:250400 ORPHA:93356 OMIM:186500 OMIM:612847 OMIM:259440 ORPHA:314795 ORPHA:56304

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

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