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:
Short stature (HP:0004322)

Parent Node:
Proportionate short stature (HP:0003508)

..Starting node
..Mild short stature (HP:0003502)

Term ID:

3502

Name:

Mild short stature

Synonym:

Relative short stature; short stature, mild

Definition:

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.

Comments:

Reference:

HP:0003502

Genes and Diseases:

Child Nodes:

Sister Nodes:

Moderately short stature (HP:0008848)

Severe short stature (HP:0003510)

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:0003502	HP:0003502	Mild short stature	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0003502	HP:0003502	Mild short stature	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0003502	HP:0003502	Mild short stature	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0003502	HP:0003502	Mild short stature	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0003502	HP:0003502	Mild short stature	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0003502	HP:0003502	Mild short stature	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.	110
HP:0003502	HP:0003502	Mild short stature	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.	137
HP:0003502	HP:0003502	Mild short stature	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0003502	HP:0003502	Mild short stature	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0003502	HP:0003502	Mild short stature	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0003502	HP:0003502	Mild short stature	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0003502	HP:0003502	Mild short stature	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0003502	HP:0003502	Mild short stature	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0003502	HP:0003502	Mild short stature	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0003502	HP:0003502	Mild short stature	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0003502	HP:0003502	Mild short stature	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0003502	HP:0003502	Mild short stature	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003502	HP:0003502	Mild short stature	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent	32
HP:0003502	HP:0003502	Mild short stature	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional	113
HP:0003502	HP:0003502	Mild short stature	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	113
HP:0003502	HP:0003502	Mild short stature	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	134
HP:0003502	HP:0003502	Mild short stature	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.	113
HP:0003502	HP:0003502	Mild short stature	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146

Genes (19) :CAMK2G CANT1 CHST11 COL10A1 COL1A1 COL9A2 COL9A3 COMP DOCK3 EVC EVC2 FGD1 IDS LBR MATN3 PDE4D PRKAR1A RTTN SMARCA2

Diseases (20) :OMIM:618522 OMIM:617719 OMIM:618167 OMIM:156500 OMIM:130060 OMIM:600204 OMIM:600969 OMIM:132400 OMIM:618292 ORPHA:952 OMIM:193530 OMIM:305400 OMIM:309900 OMIM:169400 OMIM:618019 ORPHA:93311 OMIM:614613 ORPHA:280651 OMIM:614833 OMIM:601358

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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