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
..Postaxial polydactyly (HP:0100259)

Term ID:

100259

Name:

Postaxial polydactyly

Synonym:

Polydactyly, postaxial; Postaxial hexadactyly

Definition:

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

Comments:

Reference:

HP:0100259

Genes and Diseases:

Child Nodes:

........

Postaxial hand polydactyly (HP:0001162)

................... HP:0005676 Rudimentary postaxial polydactyly of hands
................... HP:0005696 Postaxial polydactyly type A
................... HP:0006136 Bilateral postaxial polydactyly

........

Postaxial foot polydactyly (HP:0001830)

................... HP:0005817 Postaxial polysyndactyly of foot

Sister Nodes:

Foot polydactyly (HP:0001829)

Hand polydactyly (HP:0001161)

Mesoaxial polydactyly (HP:0100260)

Mirror image polydactyly (HP:0010689)

Preaxial polydactyly (HP:0100258)

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:0100259	HP:0100259	Postaxial polydactyly	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0100259	HP:0100259	Postaxial polydactyly	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		19
HP:0100259	HP:0100259	Postaxial polydactyly	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0100259	HP:0100259	Postaxial polydactyly	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0100259	HP:0100259	Postaxial polydactyly	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0100259	HP:0100259	Postaxial polydactyly	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0100259	HP:0100259	Postaxial polydactyly	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0100259	HP:0100259	Postaxial polydactyly	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0100259	HP:0100259	Postaxial polydactyly	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0100259	HP:0100259	Postaxial polydactyly	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0100259	HP:0100259	Postaxial polydactyly	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0100259	HP:0100259	Postaxial polydactyly	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0100259	HP:0100259	Postaxial polydactyly	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0100259	HP:0100259	Postaxial polydactyly	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0100259	HP:0100259	Postaxial polydactyly	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0100259	HP:0100259	Postaxial polydactyly	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0100259	HP:0100259	Postaxial polydactyly	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0100259	HP:0100259	Postaxial polydactyly	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0100259	HP:0100259	Postaxial polydactyly	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3		11
HP:0100259	HP:0100259	Postaxial polydactyly	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		11
HP:0100259	HP:0100259	Postaxial polydactyly	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome		7
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0100259	HP:0100259	Postaxial polydactyly	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0100259	HP:0100259	Postaxial polydactyly	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0100259	HP:0100259	Postaxial polydactyly	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0100259	HP:0100259	Postaxial polydactyly	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0100259	HP:0100259	Postaxial polydactyly	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	HP:0040284 - Very rare	1
HP:0100259	HP:0100259	Postaxial polydactyly	0	CIBAR1 CL E G H	137392	30452	OMIM:618219	POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0100259	HP:0100259	Postaxial polydactyly	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0100259	HP:0100259	Postaxial polydactyly	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0100259	HP:0100259	Postaxial polydactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0100259	HP:0100259	Postaxial polydactyly	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0100259	HP:0100259	Postaxial polydactyly	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.	12
HP:0100259	HP:0100259	Postaxial polydactyly	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0100259	HP:0100259	Postaxial polydactyly	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0100259	HP:0100259	Postaxial polydactyly	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0100259	HP:0100259	Postaxial polydactyly	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100259	HP:0100259	Postaxial polydactyly	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome		304
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome		7
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0100259	HP:0100259	Postaxial polydactyly	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0100259	HP:0100259	Postaxial polydactyly	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	HP:0040283 - Occasional	51
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type		209
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type		137
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0100259	HP:0100259	Postaxial polydactyly	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0100259	HP:0100259	Postaxial polydactyly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0100259	HP:0100259	Postaxial polydactyly	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0100259	HP:0100259	Postaxial polydactyly	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0100259	HP:0100259	Postaxial polydactyly	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0100259	HP:0100259	Postaxial polydactyly	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0100259	HP:0100259	Postaxial polydactyly	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0100259	HP:0100259	Postaxial polydactyly	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8		1
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional	173
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GLI3 CL E G H	2737	4319	OMIM:174200	Polydactyly, postaxial, type A1		270
HP:0100259	HP:0100259	Postaxial polydactyly	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0100259	HP:0100259	Postaxial polydactyly	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0100259	HP:0100259	Postaxial polydactyly	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0100259	HP:0100259	Postaxial polydactyly	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0100259	HP:0100259	Postaxial polydactyly	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0100259	HP:0100259	Postaxial polydactyly	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0100259	HP:0100259	Postaxial polydactyly	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0100259	HP:0100259	Postaxial polydactyly	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0100259	HP:0100259	Postaxial polydactyly	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0100259	HP:0100259	Postaxial polydactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0100259	HP:0100259	Postaxial polydactyly	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome		148
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome		48
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	HP:0040283 - Occasional	4
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2		65
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome		65
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100259	HP:0100259	Postaxial polydactyly	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0100259	HP:0100259	Postaxial polydactyly	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0100259	HP:0100259	Postaxial polydactyly	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100259	HP:0100259	Postaxial polydactyly	0	IQCE CL E G H	23288	29171	OMIM:617642	Polydactyly, postaxial, type A7	.	1
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0100259	HP:0100259	Postaxial polydactyly	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100259	HP:0100259	Postaxial polydactyly	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100259	HP:0100259	Postaxial polydactyly	0	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV	.	106
HP:0100259	HP:0100259	Postaxial polydactyly	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0100259	HP:0100259	Postaxial polydactyly	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0100259	HP:0100259	Postaxial polydactyly	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome		13
HP:0100259	HP:0100259	Postaxial polydactyly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0100259	HP:0100259	Postaxial polydactyly	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0100259	HP:0100259	Postaxial polydactyly	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0100259	HP:0100259	Postaxial polydactyly	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0100259	HP:0100259	Postaxial polydactyly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0100259	HP:0100259	Postaxial polydactyly	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0100259	HP:0100259	Postaxial polydactyly	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0100259	HP:0100259	Postaxial polydactyly	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0100259	HP:0100259	Postaxial polydactyly	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0100259	HP:0100259	Postaxial polydactyly	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0100259	HP:0100259	Postaxial polydactyly	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0100259	HP:0100259	Postaxial polydactyly	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100259	HP:0100259	Postaxial polydactyly	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0100259	HP:0100259	Postaxial polydactyly	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0100259	HP:0100259	Postaxial polydactyly	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		12
HP:0100259	HP:0100259	Postaxial polydactyly	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0100259	HP:0100259	Postaxial polydactyly	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100259	HP:0100259	Postaxial polydactyly	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0100259	HP:0100259	Postaxial polydactyly	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0100259	HP:0100259	Postaxial polydactyly	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0100259	HP:0100259	Postaxial polydactyly	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional	16
HP:0100259	HP:0100259	Postaxial polydactyly	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0100259	HP:0100259	Postaxial polydactyly	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0100259	HP:0100259	Postaxial polydactyly	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0100259	HP:0100259	Postaxial polydactyly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5		167
HP:0100259	HP:0100259	Postaxial polydactyly	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0100259	HP:0100259	Postaxial polydactyly	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0100259	HP:0100259	Postaxial polydactyly	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0100259	HP:0100259	Postaxial polydactyly	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100259	HP:0100259	Postaxial polydactyly	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0100259	HP:0100259	Postaxial polydactyly	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0100259	HP:0100259	Postaxial polydactyly	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0100259	HP:0100259	Postaxial polydactyly	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100259	HP:0100259	Postaxial polydactyly	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0100259	HP:0100259	Postaxial polydactyly	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0100259	HP:0100259	Postaxial polydactyly	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0100259	HP:0100259	Postaxial polydactyly	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0100259	HP:0100259	Postaxial polydactyly	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0100259	HP:0100259	Postaxial polydactyly	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0100259	HP:0100259	Postaxial polydactyly	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0100259	HP:0100259	Postaxial polydactyly	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24		76
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0100259	HP:0100259	Postaxial polydactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100259	HP:0100259	Postaxial polydactyly	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100259	HP:0100259	Postaxial polydactyly	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent	33
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0100259	HP:0100259	Postaxial polydactyly	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0100259	HP:0100259	Postaxial polydactyly	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0100259	HP:0100259	Postaxial polydactyly	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0100259	HP:0100259	Postaxial polydactyly	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome		132
HP:0100259	HP:0100259	Postaxial polydactyly	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100259	HP:0100259	Postaxial polydactyly	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0100259	HP:0100259	Postaxial polydactyly	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0100259	HP:0100259	Postaxial polydactyly	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0100259	HP:0100259	Postaxial polydactyly	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0100259	HP:0100259	Postaxial polydactyly	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0100259	HP:0100259	Postaxial polydactyly	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100259	HP:0100259	Postaxial polydactyly	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome		95
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100259	HP:0100259	Postaxial polydactyly	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0100259	HP:0100259	Postaxial polydactyly	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0100259	HP:0100259	Postaxial polydactyly	0	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6		3
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	19
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	29
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	28
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	28
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	34
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	34
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	1
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	114
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	118
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	71
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	97
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	87
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	25
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	66
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	119
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional	38
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	247
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	247
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.	247
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	11
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	1
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	342
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	342
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	342
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.	342
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CIBAR1 CL E G H	137392	30452	OMIM:618219	POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CIBAR1 CL E G H	137392	30452	OMIM:618219	POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	57
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	57
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040281 - Very frequent	2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040281 - Very frequent	2
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	304
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	304
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	7
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	HP:0040283 - Occasional	175
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent	270
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040281 - Very frequent	270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GLI3 CL E G H	2737	4319	OMIM:174200	Polydactyly, postaxial, type A1	.	270
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	148
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	148
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	48
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	48
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	48
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	1
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	3
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2	.	65
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	65
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	65
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	HP:0040283 - Occasional	111
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent	167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	HP:0040283 - Occasional	22
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	13
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	69
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	127
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	127
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	127
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	85
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	12
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	109
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	109
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.	167
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.	167
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent	80
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	61
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	76
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	76
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	45
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	.	45
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	33
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	33
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	82
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	82
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	166
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	166
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	.	166
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	108
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	132
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	132
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	41
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	2
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent	2
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent	60
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	95
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional	95
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0100259	HP:0001162	Postaxial hand polydactyly	1	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6	.	3
HP:0100259	HP:0001830	Postaxial foot polydactyly	1	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6		3
HP:0100259	HP:0005676	Rudimentary postaxial polydactyly of hands	2	CL E G H
HP:0100259	HP:0005817	Postaxial polysyndactyly of foot	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0100259	HP:0006136	Bilateral postaxial polydactyly	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0100259	HP:0005696	Postaxial polydactyly type A	2	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10
HP:0100259	HP:0006136	Bilateral postaxial polydactyly	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100259	HP:0005817	Postaxial polysyndactyly of foot	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0100259	HP:0005696	Postaxial polydactyly type A	2	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60

Genes (141) :AKT3 ALX3 ARL6 ARMC9 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BMP4 BMPR1B C2CD3 CC2D2A CCDC28B CCND2 CD96 CEP120 CEP19 CEP290 CFAP418 CHST11 CIBAR1 CILK1 COG6 CPLANE1 CRB2 CSPP1 CTU2 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EVC EVC2 EXTL3 FGFR2 FLNA GATA6 GDF5 GDF6 GLI1 GLI2 GLI3 GPC3 GPC4 HNRNPK HOXA13 HOXD13 HYLS1 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 INPP5E INTU IQCE KIAA0586 KIAA0753 KIAA0825 KIF3B KIF7 LBR LMBR1 LZTFL1 MBTPS2 MEGF8 MKKS MKS1 NCAPG2 NEK1 NKX2-5 NKX2-6 NPHP1 NPHP3 OFD1 OTUD5 PDE6D PIK3R2 PLAA PORCN PPP2R1A PRKACA PRKACB RAB23 RBBP8 RBM10 RPGRIP1 RPGRIP1L SC5D SCAPER SCNM1 SDCCAG8 SETBP1 SETD5 SMO SMOC1 SUFU SYNGAP1 TBX1 TBX3 TCTN1 TCTN2 TCTN3 TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRIM32 TTC21B TTC26 TTC8 TXNDC15 UQCC2 USP9X WDPCP WDR19 WDR35 WNT7A ZNF141

Diseases (170) :OMIM:615937 ORPHA:83473 OMIM:136760 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:617622 ORPHA:564 OMIM:614175 OMIM:615981 OMIM:615984 OMIM:615986 ORPHA:3329 ORPHA:139471 ORPHA:2098 ORPHA:434179 OMIM:615948 ORPHA:1454 OMIM:612284 OMIM:615938 OMIM:211750 ORPHA:474 OMIM:616300 OMIM:611134 OMIM:617406 OMIM:614500 OMIM:618167 OMIM:618219 OMIM:612651 OMIM:614576 OMIM:614615 OMIM:277170 OMIM:219730 ORPHA:397715 OMIM:618142 ORPHA:2919 OMIM:174300 OMIM:270400 ORPHA:818 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:615633 OMIM:617088 OMIM:617405 OMIM:302960 ORPHA:952 OMIM:225500 OMIM:193530 ORPHA:508533 OMIM:101200 OMIM:304120 OMIM:217095 OMIM:113100 OMIM:200700 OMIM:613094 OMIM:618123 OMIM:615849 OMIM:610829 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:146510 OMIM:174200 ORPHA:373 OMIM:312870 OMIM:616580 ORPHA:352665 ORPHA:453504 ORPHA:2438 OMIM:176305 OMIM:186000 ORPHA:2189 OMIM:236680 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:614099 OMIM:617866 OMIM:617102 OMIM:617927 OMIM:617119 OMIM:619582 OMIM:611263 OMIM:617895 OMIM:213300 OMIM:617925 OMIM:617642 OMIM:616546 OMIM:617127 OMIM:618498 OMIM:618955 OMIM:200990 OMIM:614120 OMIM:215140 OMIM:174500 OMIM:186200 OMIM:615994 ORPHA:85284 OMIM:308205 ORPHA:65759 OMIM:614976 OMIM:605231 OMIM:236700 ORPHA:2473 OMIM:249000 OMIM:618460 ORPHA:2751 OMIM:263520 OMIM:267010 OMIM:300804 ORPHA:2750 OMIM:301056 OMIM:615665 OMIM:603387 OMIM:617527 ORPHA:521426 OMIM:305600 OMIM:616362 ORPHA:457284 OMIM:619142 OMIM:619143 OMIM:201000 OMIM:251255 OMIM:311900 ORPHA:2886 OMIM:611560 OMIM:611561 OMIM:607330 ORPHA:46059 OMIM:620107 OMIM:269150 ORPHA:404440 OMIM:615761 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:617757 ORPHA:544254 ORPHA:3138 OMIM:181450 OMIM:616654 OMIM:614815 OMIM:258860 ORPHA:2753 OMIM:609192 OMIM:610168 OMIM:213980 OMIM:617563 OMIM:608091 OMIM:603194 OMIM:619562 OMIM:614970 ORPHA:2752 OMIM:614424 OMIM:216360 OMIM:607361 OMIM:619185 OMIM:619534 OMIM:615985 OMIM:619879 OMIM:615824 OMIM:300968 ORPHA:480880 OMIM:217085 OMIM:613610 OMIM:614091 OMIM:228930 OMIM:615226

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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