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 thumb phalanx (HP:0009602)

Grandparent Node:
Duplication of phalanx of hand (HP:0009997)

Parent Node:
Complete duplication of phalanx of hand (HP:0009998)

Parent Node:
Duplication of thumb phalanx (HP:0009942)

..Starting node
..Complete duplication of thumb phalanx (HP:0009943)

Term ID:

9943

Name:

Complete duplication of thumb phalanx

Synonym:

Complete duplication of the phalanges of the thumb; Complete duplication of thumb bones; Digitalization of thumb; Digitalization of thumbs

Definition:

A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.

Comments:

Reference:

HP:0009943

Genes and Diseases:

Child Nodes:

........

Complete duplication of distal phalanx of the thumb (HP:0009606)

........

Complete duplication of proximal phalanx of the thumb (HP:0009608)

Sister Nodes:

Duplication of the distal phalanx of the thumb (HP:0009612)

Duplication of the proximal phalanx of the thumb (HP:0009613)

Partial duplication of thumb phalanx (HP:0009944)

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:0009943	HP:0009943	Complete duplication of thumb phalanx	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0009943	HP:0009943	Complete duplication of thumb phalanx	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009943	HP:0009606	Complete duplication of distal phalanx of the thumb	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	90
HP:0009943	HP:0009608	Complete duplication of proximal phalanx of the thumb	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009943	HP:0009606	Complete duplication of distal phalanx of the thumb	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	52
HP:0009943	HP:0009606	Complete duplication of distal phalanx of the thumb	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II	.	106
HP:0009943	HP:0009608	Complete duplication of proximal phalanx of the thumb	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31

Genes (13) :BCOR BMPR1B CHSY1 ESCO2 FANCA FANCC FANCD2 FANCE GDF5 LMBR1 NAA10 RAB23 SHMT2

Diseases (11) :ORPHA:568 ORPHA:93384 ORPHA:363417 ORPHA:3103 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:174500 OMIM:201000 OMIM:619121

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