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:
Short stature (HP:0004322)

Parent Node:
Abnormal axial skeleton morphology (HP:0009121)

Parent Node:
Disproportionate short stature (HP:0003498)

..Starting node
..Disproportionate short-trunk short stature (HP:0003521)

Term ID:

3521

Name:

Disproportionate short-trunk short stature

Synonym:

Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism

Definition:

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.

Comments:

Reference:

HP:0003521

Genes and Diseases:

Child Nodes:

........

Neonatal short-trunk short stature (HP:0008857)

........

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

........

Lethal short-trunk short stature (HP:0011404)

........

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

Sister Nodes:

Disproportionate short-limb short stature (HP:0008873)

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:0003521	HP:0003521	Disproportionate short-trunk short stature	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040281 - Very frequent	65
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent	9
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive	.	45
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent	214
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0003521	HP:0003521	Disproportionate short-trunk short stature	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent	5
HP:0003521	HP:0011404	Lethal short-trunk short stature	1	CL E G H
HP:0003521	HP:0011406	Infancy onset short-trunk short stature	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0003521	HP:0011406	Infancy onset short-trunk short stature	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0003521	HP:0008857	Neonatal short-trunk short stature	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0003521	HP:0008857	Neonatal short-trunk short stature	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0003521	HP:0008857	Neonatal short-trunk short stature	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0003521	HP:0011406	Infancy onset short-trunk short stature	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0003521	HP:0008922	Childhood-onset short-trunk short stature	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214

Genes (28) :ACP5 ARSB ARSK BGN BMPER BRF1 CCN6 CFAP410 CHST3 COL2A1 DLL3 DYM FLNB FN1 GALNS GLB1 KIF22 MESP2 NKX3-2 PUF60 RAB33B RSPRY1 SMARCAL1 TBX6 TRAPPC2 TRIP11 TRPV4 XYLT2

Diseases (41) :ORPHA:1855 OMIM:253200 OMIM:619698 OMIM:300106 OMIM:608022 ORPHA:444072 ORPHA:1159 OMIM:602271 ORPHA:263463 OMIM:200610 OMIM:156550 ORPHA:485 OMIM:183900 ORPHA:94068 ORPHA:93315 ORPHA:93316 OMIM:277300 OMIM:223800 ORPHA:239 OMIM:607326 ORPHA:1190 OMIM:272460 OMIM:253000 OMIM:253010 ORPHA:93360 OMIM:608681 OMIM:613330 ORPHA:508488 OMIM:615222 ORPHA:457395 OMIM:242900 ORPHA:1830 OMIM:122600 ORPHA:93284 OMIM:313400 OMIM:200600 OMIM:113500 OMIM:156530 ORPHA:93314 OMIM:184252 ORPHA:85194

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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