Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of the hand (HP:0001155)

Grandparent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Aplasia/hypoplasia involving bones of the hand (HP:0005927)

..Starting node
..Absent hand (HP:0004050)

Term ID:

4050

Name:

Absent hand

Synonym:

Absent hand; Acheiria

Definition:

The total absence of the hand, with no bony elements distal to the radius or ulna.

Comments:

Reference:

HP:0004050

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia involving the carpal bones (HP:0006502)

Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Aplasia/Hypoplasia of fingers (HP:0006265)

Short palm (HP:0004279)

Small hand (HP:0200055)

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:0004050	HP:0004050	Absent hand	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0004050	HP:0004050	Absent hand	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	2
HP:0004050	HP:0004050	Absent hand	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0004050	HP:0004050	Absent hand	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	3
HP:0004050	HP:0004050	Absent hand	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0004050	HP:0004050	Absent hand	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0004050	HP:0004050	Absent hand	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0004050	HP:0004050	Absent hand	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0004050	HP:0004050	Absent hand	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	37
HP:0004050	HP:0004050	Absent hand	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0004050	HP:0004050	Absent hand	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0004050	HP:0004050	Absent hand	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0004050	HP:0004050	Absent hand	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0004050	HP:0004050	Absent hand	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0004050	HP:0004050	Absent hand	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0004050	HP:0004050	Absent hand	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0004050	HP:0004050	Absent hand	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0004050	HP:0004050	Absent hand	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0004050	HP:0004050	Absent hand	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	140
HP:0004050	HP:0004050	Absent hand	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	4

Genes (19) :ARHGAP31 BTRC DLL4 DLX5 DLX6 DOCK6 EOGT EPS15L1 FBXW4 IKBKG LMBR1 NOTCH1 PLXND1 RBPJ REV3L SEM1 TBX3 TP63 WNT10B

Diseases (7) :ORPHA:974 ORPHA:2440 ORPHA:464 ORPHA:931 OMIM:200500 ORPHA:570 ORPHA:3138

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen