Human Phenotype Ontology

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:0009942	HP:0009942	Duplication of thumb phalanx	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	72
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	123
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040281 - Very frequent	16
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II	HP:0040281 - Very frequent	106
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0009942	HP:0009942	Duplication of thumb phalanx	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009942	HP:0009613	Duplication of the proximal phalanx of the thumb	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I	.	1
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0009942	HP:0009612	Duplication of the distal phalanx of the thumb	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009942	HP:0009613	Duplication of the proximal phalanx of the thumb	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009942	HP:0009943	Complete duplication of thumb phalanx	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0009942	HP:0009944	Partial duplication of thumb phalanx	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009942	HP:0009614	Bifid proximal phalanx of the thumb	2	CL E G H
HP:0009942	HP:0009606	Complete duplication of distal phalanx of the thumb	2	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	90
HP:0009942	HP:0009611	Bifid distal phalanx of the thumb	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009942	HP:0009608	Complete duplication of proximal phalanx of the thumb	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009942	HP:0009606	Complete duplication of distal phalanx of the thumb	2	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	52
HP:0009942	HP:0009611	Bifid distal phalanx of the thumb	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0009942	HP:0009606	Complete duplication of distal phalanx of the thumb	2	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II	.	106
HP:0009942	HP:0009611	Bifid distal phalanx of the thumb	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0009942	HP:0009611	Bifid distal phalanx of the thumb	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0009942	HP:0009608	Complete duplication of proximal phalanx of the thumb	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31