Human Phenotype Ontology

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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:
Abnormality of finger (HP:0001167)

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

Parent Node:
Abnormal hand morphology (HP:0005922)

Parent Node:
Deviation of finger (HP:0004097)

..Starting node
..Overlapping fingers (HP:0010557)

Term ID:

10557

Name:

Overlapping fingers

Synonym:

Definition:

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.

Comments:

Reference:

HP:0010557

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deviation of the 2nd finger (HP:0009468)

Deviation of the 3rd finger (HP:0009317)

Deviation of the 4th finger (HP:0009273)

Deviation of the 5th finger (HP:0009179)

Deviation of the thumb (HP:0009603)

Finger clinodactyly (HP:0040019)

Radial deviation of finger (HP:0009466)

Ulnar deviation of finger (HP:0009465)

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:0010557	HP:0010557	Overlapping fingers	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0010557	HP:0010557	Overlapping fingers	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0010557	HP:0010557	Overlapping fingers	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0010557	HP:0010557	Overlapping fingers	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0010557	HP:0010557	Overlapping fingers	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0010557	HP:0010557	Overlapping fingers	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0010557	HP:0010557	Overlapping fingers	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0010557	HP:0010557	Overlapping fingers	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0010557	HP:0010557	Overlapping fingers	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0010557	HP:0010557	Overlapping fingers	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0010557	HP:0010557	Overlapping fingers	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0010557	HP:0010557	Overlapping fingers	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	209
HP:0010557	HP:0010557	Overlapping fingers	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	137
HP:0010557	HP:0010557	Overlapping fingers	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010557	HP:0010557	Overlapping fingers	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0010557	HP:0010557	Overlapping fingers	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0010557	HP:0010557	Overlapping fingers	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010557	HP:0010557	Overlapping fingers	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0010557	HP:0010557	Overlapping fingers	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0010557	HP:0010557	Overlapping fingers	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	66
HP:0010557	HP:0010557	Overlapping fingers	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.	166
HP:0010557	HP:0010557	Overlapping fingers	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	166
HP:0010557	HP:0010557	Overlapping fingers	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0010557	HP:0010557	Overlapping fingers	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0010557	HP:0010557	Overlapping fingers	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	48
HP:0010557	HP:0010557	Overlapping fingers	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0010557	HP:0010557	Overlapping fingers	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0010557	HP:0010557	Overlapping fingers	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010557	HP:0010557	Overlapping fingers	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010557	HP:0010557	Overlapping fingers	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.	11
HP:0010557	HP:0010557	Overlapping fingers	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010557	HP:0010557	Overlapping fingers	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0010557	HP:0010557	Overlapping fingers	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0010557	HP:0010557	Overlapping fingers	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional	22
HP:0010557	HP:0010557	Overlapping fingers	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0010557	HP:0010557	Overlapping fingers	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0010557	HP:0010557	Overlapping fingers	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0010557	HP:0010557	Overlapping fingers	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	37
HP:0010557	HP:0010557	Overlapping fingers	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0010557	HP:0010557	Overlapping fingers	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0010557	HP:0010557	Overlapping fingers	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	43
HP:0010557	HP:0010557	Overlapping fingers	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0010557	HP:0010557	Overlapping fingers	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0010557	HP:0010557	Overlapping fingers	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040281 - Very frequent	54
HP:0010557	HP:0010557	Overlapping fingers	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54

Genes (34) :ALG12 ATN1 BICD2 BLTP1 CHST11 CNTN1 COG7 CTU2 DOK7 EBP EVC EVC2 FLNA MADD MECOM MED25 MOGS MYBPC1 MYH3 MYOD1 NALCN NEK9 OTUD5 PI4KA PLOD3 PPP1R21 PRKDC PTF1A SAMD9 SETBP1 TMEM94 TNNI2 TNNT3 TPM2

Diseases (35) :ORPHA:79324 OMIM:618494 OMIM:618291 OMIM:617822 OMIM:618167 OMIM:612540 OMIM:608779 OMIM:618142 OMIM:618389 OMIM:300960 ORPHA:401973 ORPHA:952 OMIM:304120 OMIM:619004 OMIM:616738 ORPHA:464738 OMIM:606056 ORPHA:79330 ORPHA:1146 OMIM:618436 ORPHA:1147 OMIM:618975 OMIM:617022 OMIM:301056 OMIM:619708 OMIM:616531 OMIM:612394 OMIM:619383 OMIM:615966 OMIM:609069 OMIM:617053 ORPHA:798 OMIM:618316 OMIM:618435 OMIM:108120

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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