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:
Deviation of the hand or of fingers of the hand (HP:0009484)

Parent Node:
Deviation of finger (HP:0004097)

Parent Node:
Radial deviation of the hand or of fingers of the hand (HP:0009485)

..Starting node
..Radial deviation of finger (HP:0009466)

Term ID:

9466

Name:

Radial deviation of finger

Synonym:

Radially deviated fingers; Radially deviated phalanges

Definition:

Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.

Comments:

Reference:

HP:0009466

Genes and Diseases:

Child Nodes:

........

Hitchhiker thumb (HP:0001234)

........

Radial deviation of the 4th finger (HP:0009279)

........

Radial deviation of the 3rd finger (HP:0009462)

........

Radial deviation of the 2nd finger (HP:0009467)

........

Radial deviation of the 5th finger (HP:0040020)

........

Radial deviation of the thumb (HP:0040021)

Sister Nodes:

Radial deviation of the hand (HP:0009486)

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:0009466	HP:0009466	Radial deviation of finger	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009466	HP:0009466	Radial deviation of finger	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0009466	HP:0009466	Radial deviation of finger	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0009466	HP:0009466	Radial deviation of finger	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0009466	HP:0009466	Radial deviation of finger	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0009466	HP:0009466	Radial deviation of finger	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0009466	HP:0009466	Radial deviation of finger	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0009466	HP:0009466	Radial deviation of finger	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0009466	HP:0009466	Radial deviation of finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009466	HP:0009466	Radial deviation of finger	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009466	HP:0009466	Radial deviation of finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009466	HP:0009466	Radial deviation of finger	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0009466	HP:0009466	Radial deviation of finger	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009466	HP:0009466	Radial deviation of finger	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0009466	HP:0009466	Radial deviation of finger	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0009466	HP:0009466	Radial deviation of finger	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0009466	HP:0009466	Radial deviation of finger	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0009466	HP:0009466	Radial deviation of finger	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009466	HP:0009466	Radial deviation of finger	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0009466	HP:0009466	Radial deviation of finger	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0009466	HP:0009466	Radial deviation of finger	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0009466	HP:0009466	Radial deviation of finger	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009466	HP:0009466	Radial deviation of finger	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0009466	HP:0009466	Radial deviation of finger	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0009466	HP:0009466	Radial deviation of finger	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0009466	HP:0009466	Radial deviation of finger	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009466	HP:0009466	Radial deviation of finger	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009466	HP:0009466	Radial deviation of finger	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009466	HP:0009466	Radial deviation of finger	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0009466	HP:0009466	Radial deviation of finger	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0009466	HP:0009466	Radial deviation of finger	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0009466	HP:0009466	Radial deviation of finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009466	HP:0009466	Radial deviation of finger	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0009466	HP:0009466	Radial deviation of finger	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0009466	HP:0009466	Radial deviation of finger	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0009466	HP:0009466	Radial deviation of finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009466	HP:0009466	Radial deviation of finger	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0009466	HP:0009466	Radial deviation of finger	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0009466	HP:0009466	Radial deviation of finger	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0009466	HP:0009466	Radial deviation of finger	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009466	HP:0009466	Radial deviation of finger	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0009466	HP:0009466	Radial deviation of finger	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0009466	HP:0009466	Radial deviation of finger	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0009466	HP:0009466	Radial deviation of finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009466	HP:0009466	Radial deviation of finger	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0009466	HP:0009466	Radial deviation of finger	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0009466	HP:0009466	Radial deviation of finger	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0009466	HP:0009466	Radial deviation of finger	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0009466	HP:0009466	Radial deviation of finger	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0009466	HP:0009466	Radial deviation of finger	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0009466	HP:0009466	Radial deviation of finger	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0009466	HP:0009466	Radial deviation of finger	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0009466	HP:0009466	Radial deviation of finger	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0009466	HP:0009466	Radial deviation of finger	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009466	HP:0009466	Radial deviation of finger	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0009466	HP:0009466	Radial deviation of finger	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0009466	HP:0009466	Radial deviation of finger	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0009466	HP:0009466	Radial deviation of finger	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0009466	HP:0009466	Radial deviation of finger	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0009466	HP:0009466	Radial deviation of finger	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0009466	HP:0009466	Radial deviation of finger	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0009466	HP:0009466	Radial deviation of finger	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0009466	HP:0009466	Radial deviation of finger	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0009466	HP:0040020	Radial deviation of the 5th finger	1	CL E G H
HP:0009466	HP:0001234	Hitchhiker thumb	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009466	HP:0001234	Hitchhiker thumb	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0009466	HP:0001234	Hitchhiker thumb	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009466	HP:0009462	Radial deviation of the 3rd finger	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009466	HP:0009462	Radial deviation of the 3rd finger	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009466	HP:0009462	Radial deviation of the 3rd finger	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0009466	HP:0001234	Hitchhiker thumb	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009466	HP:0009462	Radial deviation of the 3rd finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009466	HP:0009279	Radial deviation of the 4th finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009466	HP:0001234	Hitchhiker thumb	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009466	HP:0001234	Hitchhiker thumb	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0009466	HP:0001234	Hitchhiker thumb	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0009466	HP:0001234	Hitchhiker thumb	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0009466	HP:0009467	Radial deviation of the 2nd finger	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6

Genes (58) :ALG9 ALX3 ANKRD11 ARL6 ATRX BBS1 BCOR BMP2 BMPR1B BRAF CANT1 CCDC28B CD96 CHSY1 CILK1 CPLANE1 CRLF1 DVL1 ESCO2 EZH2 FGD1 FGF10 FGFR2 FGFR3 FLNA FLNB GDF5 HERC2 IFT122 IGF1R IHH IPW MAGEL2 MAP2K1 MED12 MEGF8 MKRN3 MKRN3-AS1 MKS1 NAA10 NOG NPAP1 OFD1 PHGDH PIK3R1 PTPN11 PWAR1 PWRN1 ROR2 SF3B4 SIN3A SLC26A2 SMAD4 SNORD115-1 SNORD116-1 TGDS TRPV4 WNT5A

Diseases (49) :ORPHA:79328 OMIM:136760 OMIM:148050 OMIM:209900 OMIM:301040 OMIM:309580 OMIM:309800 OMIM:112600 OMIM:609441 OMIM:163950 OMIM:251450 OMIM:211750 ORPHA:363417 OMIM:605282 OMIM:612651 OMIM:277170 OMIM:272430 OMIM:180700 ORPHA:3103 OMIM:268300 OMIM:277590 OMIM:305400 OMIM:149730 OMIM:602849 OMIM:304120 OMIM:108721 OMIM:176270 OMIM:218330 OMIM:270450 OMIM:112500 OMIM:305450 OMIM:614976 OMIM:249000 OMIM:186500 OMIM:186570 OMIM:311200 OMIM:300209 OMIM:256520 OMIM:269880 OMIM:268310 OMIM:154400 OMIM:613406 ORPHA:56304 OMIM:256050 OMIM:222600 OMIM:139210 ORPHA:1388 OMIM:113500 OMIM:606835

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