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:
Synostosis of joints (HP:0100240)

Parent Node:
Synostosis involving digits (HP:0100262)

..Starting node
..Proximal symphalangism (HP:0100264)

Term ID:

100264

Name:

Proximal symphalangism

Synonym:

Cushing's symphalangism

Definition:

Comments:

Reference:

HP:0100264

Genes and Diseases:

Child Nodes:

........

Proximal symphalangism of hands (HP:0006152)

................... HP:0009177 Proximal/middle symphalangism of 5th finger
................... HP:0009477 Proximal/middle symphalangism of 4th finger
................... HP:0009482 Proximal/middle symphalangism of 3rd finger
................... HP:0009579 Proximal/middle symphalangism of the 2nd finger
................... HP:0009640 Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal

........

Proximal foot symphalangism (HP:0100237)

................... HP:0100480 Proximal/middle symphalangism of 3rd toe
................... HP:0100481 Proximal/middle symphalangism of 4th toe
................... HP:0100482 Proximal/middle symphalangism of 5th toe
................... HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
................... HP:0100489 Proximal/middle symphalangism of 2nd toe

Sister Nodes:

Distal symphalangism (HP:0100263)

Finger symphalangism (HP:0009700)

Synostosis involving bones of the toes (HP:0100235)

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:0100264	HP:0100264	Proximal symphalangism	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0100264	HP:0100264	Proximal symphalangism	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0100264	HP:0100264	Proximal symphalangism	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2	.	52
HP:0100264	HP:0100264	Proximal symphalangism	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0100264	HP:0100264	Proximal symphalangism	0	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0100264	HP:0100264	Proximal symphalangism	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0100264	HP:0100264	Proximal symphalangism	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100264	HP:0100264	Proximal symphalangism	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0100264	HP:0100264	Proximal symphalangism	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0100264	HP:0100264	Proximal symphalangism	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0100264	HP:0100237	Proximal foot symphalangism	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0100264	HP:0006152	Proximal symphalangism of hands	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0100264	HP:0100489	Proximal/middle symphalangism of 2nd toe	2	CL E G H
HP:0100264	HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	2	CL E G H
HP:0100264	HP:0100480	Proximal/middle symphalangism of 3rd toe	2	CL E G H
HP:0100264	HP:0009579	Proximal/middle symphalangism of the 2nd finger	2	CL E G H
HP:0100264	HP:0009482	Proximal/middle symphalangism of 3rd finger	2	CL E G H
HP:0100264	HP:0009177	Proximal/middle symphalangism of 5th finger	2	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0100264	HP:0009177	Proximal/middle symphalangism of 5th finger	2	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0100264	HP:0100482	Proximal/middle symphalangism of 5th toe	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0100481	Proximal/middle symphalangism of 4th toe	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0009477	Proximal/middle symphalangism of 4th finger	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0009177	Proximal/middle symphalangism of 5th finger	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0100264	HP:0009177	Proximal/middle symphalangism of 5th finger	2	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	.	22
HP:0100264	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100264	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0100264	HP:0009177	Proximal/middle symphalangism of 5th finger	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120

Genes (8) :BHLHA9 CHSY1 GDF5 NOG NONO PQBP1 PTDSS1 ROR2

Diseases (14) :OMIM:609432 ORPHA:363417 OMIM:610017 ORPHA:3250 OMIM:615298 OMIM:611377 OMIM:186500 OMIM:184460 OMIM:185800 OMIM:186570 OMIM:300967 OMIM:309500 OMIM:151050 OMIM:268310

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