Human Phenotype Ontology

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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:
Abnormal digit morphology (HP:0011297)

Parent Node:
Polydactyly (HP:0010442)

..Starting node
..Preaxial polydactyly (HP:0100258)

Term ID:

100258

Name:

Preaxial polydactyly

Synonym:

Polydactyly, preaxial

Definition:

A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.

Comments:

Reference:

HP:0100258

Genes and Diseases:

Child Nodes:

........

Preaxial hand polydactyly (HP:0001177)

........

Preaxial foot polydactyly (HP:0001841)

................... HP:0005873 Polysyndactyly of hallux

Sister Nodes:

Foot polydactyly (HP:0001829)

Hand polydactyly (HP:0001161)

Mesoaxial polydactyly (HP:0100260)

Mirror image polydactyly (HP:0010689)

Postaxial polydactyly (HP:0100259)

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:0100258	HP:0100258	Preaxial polydactyly	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0100258	HP:0100258	Preaxial polydactyly	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0100258	HP:0100258	Preaxial polydactyly	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0100258	HP:0100258	Preaxial polydactyly	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0100258	HP:0100258	Preaxial polydactyly	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0100258	HP:0100258	Preaxial polydactyly	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0100258	HP:0100258	Preaxial polydactyly	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	HP:0040284 - Very rare	27
HP:0100258	HP:0100258	Preaxial polydactyly	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0100258	HP:0100258	Preaxial polydactyly	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0100258	HP:0100258	Preaxial polydactyly	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0100258	HP:0100258	Preaxial polydactyly	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0100258	HP:0100258	Preaxial polydactyly	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0100258	HP:0100258	Preaxial polydactyly	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0100258	HP:0100258	Preaxial polydactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0100258	HP:0100258	Preaxial polydactyly	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0100258	HP:0100258	Preaxial polydactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0100258	HP:0100258	Preaxial polydactyly	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100258	HP:0100258	Preaxial polydactyly	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0100258	HP:0100258	Preaxial polydactyly	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0100258	HP:0100258	Preaxial polydactyly	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0100258	HP:0100258	Preaxial polydactyly	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0100258	HP:0100258	Preaxial polydactyly	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100258	HP:0100258	Preaxial polydactyly	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0100258	HP:0100258	Preaxial polydactyly	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100258	HP:0100258	Preaxial polydactyly	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100258	HP:0100258	Preaxial polydactyly	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0100258	HP:0100258	Preaxial polydactyly	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0100258	HP:0100258	Preaxial polydactyly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100258	HP:0100258	Preaxial polydactyly	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0100258	HP:0100258	Preaxial polydactyly	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0100258	HP:0100258	Preaxial polydactyly	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100258	HP:0100258	Preaxial polydactyly	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0100258	HP:0100258	Preaxial polydactyly	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0100258	HP:0100258	Preaxial polydactyly	0	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I		1
HP:0100258	HP:0100258	Preaxial polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0100258	HP:0100258	Preaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100258	HP:0100258	Preaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:174200	Polydactyly, postaxial, type A1	.	270
HP:0100258	HP:0100258	Preaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0100258	HP:0100258	Preaxial polydactyly	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0100258	HP:0100258	Preaxial polydactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0100258	HP:0100258	Preaxial polydactyly	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0100258	HP:0100258	Preaxial polydactyly	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0100258	HP:0100258	Preaxial polydactyly	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0100258	HP:0100258	Preaxial polydactyly	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0100258	HP:0100258	Preaxial polydactyly	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0100258	HP:0100258	Preaxial polydactyly	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100258	HP:0100258	Preaxial polydactyly	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100258	HP:0100258	Preaxial polydactyly	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0100258	HP:0100258	Preaxial polydactyly	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0100258	HP:0100258	Preaxial polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100258	HP:0100258	Preaxial polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0100258	HP:0100258	Preaxial polydactyly	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0100258	HP:0100258	Preaxial polydactyly	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0100258	HP:0100258	Preaxial polydactyly	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100258	HP:0100258	Preaxial polydactyly	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0100258	HP:0100258	Preaxial polydactyly	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0100258	HP:0100258	Preaxial polydactyly	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0100258	HP:0100258	Preaxial polydactyly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0100258	HP:0100258	Preaxial polydactyly	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0100258	HP:0100258	Preaxial polydactyly	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0100258	HP:0100258	Preaxial polydactyly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0100258	HP:0100258	Preaxial polydactyly	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional	9
HP:0100258	HP:0100258	Preaxial polydactyly	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0100258	HP:0100258	Preaxial polydactyly	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0100258	HP:0100258	Preaxial polydactyly	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100258	HP:0100258	Preaxial polydactyly	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0100258	HP:0100258	Preaxial polydactyly	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0100258	HP:0100258	Preaxial polydactyly	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0100258	HP:0100258	Preaxial polydactyly	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0100258	HP:0100258	Preaxial polydactyly	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0100258	HP:0100258	Preaxial polydactyly	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0100258	HP:0100258	Preaxial polydactyly	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0100258	HP:0100258	Preaxial polydactyly	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0100258	HP:0100258	Preaxial polydactyly	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100258	HP:0100258	Preaxial polydactyly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0100258	HP:0100258	Preaxial polydactyly	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0100258	HP:0100258	Preaxial polydactyly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100258	HP:0100258	Preaxial polydactyly	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100258	HP:0100258	Preaxial polydactyly	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome		22
HP:0100258	HP:0100258	Preaxial polydactyly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0100258	HP:0100258	Preaxial polydactyly	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0100258	HP:0100258	Preaxial polydactyly	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0100258	HP:0100258	Preaxial polydactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0100258	HP:0100258	Preaxial polydactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100258	HP:0100258	Preaxial polydactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0100258	HP:0100258	Preaxial polydactyly	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100258	HP:0100258	Preaxial polydactyly	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0100258	HP:0100258	Preaxial polydactyly	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0100258	HP:0100258	Preaxial polydactyly	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0100258	HP:0100258	Preaxial polydactyly	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0100258	HP:0100258	Preaxial polydactyly	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100258	HP:0100258	Preaxial polydactyly	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100258	HP:0100258	Preaxial polydactyly	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0100258	HP:0100258	Preaxial polydactyly	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	HP:0040283 - Occasional	175
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional	175
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I	.	1
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040281 - Very frequent	270
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	HP:0040283 - Occasional	25
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040281 - Very frequent	106
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040281 - Very frequent	106
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	13
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040283 - Occasional	23
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	31
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0100258	HP:0001177	Preaxial hand polydactyly	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100258	HP:0001841	Preaxial foot polydactyly	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0100258	HP:0005873	Polysyndactyly of hallux	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0100258	HP:0005873	Polysyndactyly of hallux	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101

Genes (81) :B9D1 B9D2 BHLHA9 C2CD3 CC2D2A CDC45 CENPF CEP120 CEP290 CHN1 CILK1 CNTNAP2 COLEC10 CPLANE1 CPLX1 CSPP1 CTBP1 CTU2 DACT1 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 EXTL3 FAM149B1 FANCD2 FGF10 FGFR2 FGFR3 FGFRL1 FLNA GJA1 GLI1 GLI3 HEATR3 HOXD13 HYLS1 IFT172 IFT43 IFT57 IFT80 INTU KIAA0586 KIAA0753 KIF7 LETM1 LMBR1 MAFB MEGF8 MKS1 NEK1 NEK9 NELFA NSD2 OFD1 PDE6D PHF8 PIGG PITX1 PUF60 RAB23 RNU4ATAC RPGRIP1 RPGRIP1L SALL1 SALL4 SMO TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TXNDC15 WDR35 ZNF699 ZSWIM6

Diseases (72) :ORPHA:564 ORPHA:3329 OMIM:615948 OMIM:617063 OMIM:243605 OMIM:616300 ORPHA:233 OMIM:612651 ORPHA:163681 OMIM:248340 OMIM:614615 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 OMIM:618142 ORPHA:857 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:610536 ORPHA:79113 ORPHA:508533 OMIM:227646 OMIM:149730 OMIM:101200 ORPHA:1540 ORPHA:90652 ORPHA:2710 OMIM:174400 ORPHA:380 OMIM:175700 OMIM:174200 OMIM:174700 OMIM:620072 OMIM:186000 ORPHA:887 OMIM:236680 OMIM:619471 OMIM:617866 OMIM:617927 OMIM:617925 OMIM:616546 OMIM:200990 OMIM:614120 ORPHA:2378 OMIM:174500 OMIM:188740 ORPHA:65759 OMIM:614976 ORPHA:2751 OMIM:263520 ORPHA:64754 ORPHA:2750 ORPHA:85287 OMIM:119800 ORPHA:508498 OMIM:201000 OMIM:210710 OMIM:107480 ORPHA:959 OMIM:607323 ORPHA:2307 OMIM:147750 ORPHA:1553 OMIM:601707 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:619488 OMIM:603671 ORPHA:1827

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

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