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:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010012	HP:0010012	Abnormal 4th metacarpal morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010012	HP:0010224	Abnormality of the epiphysis of the 4th metacarpal	1	CL E G H
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010012	HP:0009707	Synostosis involving the 4th metacarpal	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010012	HP:0009707	Synostosis involving the 4th metacarpal	1	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0010012	HP:0009707	Synostosis involving the 4th metacarpal	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010012	HP:0009707	Synostosis involving the 4th metacarpal	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010012	HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0010012	HP:0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	2	CL E G H
HP:0010012	HP:4000062	3-4 metacarpal synostosis	2	CL E G H
HP:0010012	HP:0041192	Fractured epiphysis of fourth metacarpal bone	2	CL E G H
HP:0010012	HP:0010225	Pseudoepiphysis of the 4th metacarpal	2	CL E G H
HP:0010012	HP:0010044	Short 4th metacarpal	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010012	HP:0005867	4-5 metacarpal synostosis	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010012	HP:0010044	Short 4th metacarpal	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010012	HP:0010044	Short 4th metacarpal	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0010012	HP:0010044	Short 4th metacarpal	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010012	HP:0005867	4-5 metacarpal synostosis	2	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010012	HP:0010044	Short 4th metacarpal	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010012	HP:0010044	Short 4th metacarpal	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010012	HP:0010044	Short 4th metacarpal	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0010012	HP:0010043	Aplasia of the 4th metacarpal	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010012	HP:0010044	Short 4th metacarpal	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010012	HP:0010044	Short 4th metacarpal	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010012	HP:0010044	Short 4th metacarpal	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0010012	HP:0005867	4-5 metacarpal synostosis	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0010012	HP:0010044	Short 4th metacarpal	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010012	HP:0010044	Short 4th metacarpal	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0010012	HP:0010044	Short 4th metacarpal	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010012	HP:0010044	Short 4th metacarpal	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010012	HP:0010044	Short 4th metacarpal	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010012	HP:0010044	Short 4th metacarpal	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0010012	HP:0010044	Short 4th metacarpal	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0010012	HP:0010044	Short 4th metacarpal	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0010012	HP:0005867	4-5 metacarpal synostosis	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0010012	HP:0010044	Short 4th metacarpal	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010012	HP:0010044	Short 4th metacarpal	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0010012	HP:0010044	Short 4th metacarpal	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010012	HP:0010043	Aplasia of the 4th metacarpal	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100