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:
Abnormality of the nail (HP:0001597)

Parent Node:
Aplasia/Hypoplasia of the nails (HP:0008386)

..Starting node
..Short nail (HP:0001799)

Term ID:

1799

Name:

Short nail

Synonym:

Short nail; Short nails

Definition:

Decreased length of nail.

Comments:

Reference:

HP:0001799

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anonychia (HP:0001798)

Aplastic/hypoplastic toenail (HP:0010624)

Small nail (HP:0001792)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001799	HP:0001799	Short nail	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0001799	HP:0001799	Short nail	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0001799	HP:0001799	Short nail	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	337	17978	615291
HP:0001799	HP:0001799	Short nail	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	281	17978	615291
HP:0001799	HP:0001799	Short nail	0	FLNB CL E G H	2317	503				ORPHA	1	988	3755	603381
HP:0001799	HP:0001799	Short nail	0	FLNB CL E G H	2317	503				ORPHA	1	786	3755	603381
HP:0001799	HP:0001799	Short nail	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	988	3755	603381
HP:0001799	HP:0001799	Short nail	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	786	3755	603381
HP:0001799	HP:0001799	Short nail	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	391	13556	606045
HP:0001799	HP:0001799	Short nail	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	317	13556	606045
HP:0001799	HP:0001799	Short nail	0	IFT43 CL E G H	112752	614099	Cranioectodermal dysplasia 3	614099	C3279807	OMIM	1	162	29669	614068
HP:0001799	HP:0001799	Short nail	0	IFT43 CL E G H	112752	614099	Cranioectodermal dysplasia 3	614099	C3279807	OMIM	1	129	29669	614068
HP:0001799	HP:0001799	Short nail	0	LMNA CL E G H	4000	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	1486	6636	150330
HP:0001799	HP:0001799	Short nail	0	LMNA CL E G H	4000	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	1347	6636	150330
HP:0001799	HP:0001799	Short nail	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	627	7882	600275
HP:0001799	HP:0001799	Short nail	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	526	7882	600275
HP:0001799	HP:0001799	Short nail	0	NPR2 CL E G H	4882	602875	Acromesomelic dysplasia Maroteaux type	602875	C1864356	OMIM	1	344	7944	108961
HP:0001799	HP:0001799	Short nail	0	NPR2 CL E G H	4882	602875	Acromesomelic dysplasia Maroteaux type	602875	C1864356	OMIM	1	285	7944	108961
HP:0001799	HP:0001799	Short nail	0	ZMPSTE24 CL E G H	10269	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	167	12877	606480
HP:0001799	HP:0001799	Short nail	0	ZMPSTE24 CL E G H	10269	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	149	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001799	HP:0001799	Short nail	0	LMNA CL E G H	4000	1662				ORPHA	0	1486	6636	150330
HP:0001799	HP:0001799	Short nail	0	LMNA CL E G H	4000	1662				ORPHA	0	1347	6636	150330
HP:0001799	HP:0001799	Short nail	0	ZMPSTE24 CL E G H	10269	1662				ORPHA	0	167	12877	606480
HP:0001799	HP:0001799	Short nail	0	ZMPSTE24 CL E G H	10269	1662				ORPHA	0	149	12877	606480

Genes (9) :ATP6V0A2 B3GALT6 FLNB IFT122 IFT43 LMNA NOTCH2 NPR2 ZMPSTE24

Diseases (10) :278250 271640 503 150250 218330 614099 1662 275210 102500 602875

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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