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:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormality of the tarsal bones (HP:0001850)

Parent Node:
Synostosis involving bones of the feet (HP:0009140)

Parent Node:
Synostosis of carpals/tarsals (HP:0100266)

..Starting node
..Tarsal synostosis (HP:0008368)

Term ID:

8368

Name:

Tarsal synostosis

Synonym:

Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions

Definition:

Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).

Comments:

Reference:

HP:0008368

Genes and Diseases:

Child Nodes:

........

Talocalcaneal synostosis (HP:0005682)

........

Coalescence of tarsal bones (HP:0005802)

........

Partial fusion of tarsals (HP:0008097)

........

Calcaneonavicular fusion (HP:0008122)

........

Tarsometatarsal synostosis (HP:0100329)

Sister Nodes:

Carpal synostosis (HP:0009702)

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:0008368	HP:0008368	Tarsal synostosis	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0008368	HP:0008368	Tarsal synostosis	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0008368	HP:0008368	Tarsal synostosis	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	90
HP:0008368	HP:0008368	Tarsal synostosis	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0008368	HP:0008368	Tarsal synostosis	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.	16
HP:0008368	HP:0008368	Tarsal synostosis	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0008368	HP:0008368	Tarsal synostosis	0	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2	.	12
HP:0008368	HP:0008368	Tarsal synostosis	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome		172
HP:0008368	HP:0008368	Tarsal synostosis	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome		175
HP:0008368	HP:0008368	Tarsal synostosis	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0008368	HP:0008368	Tarsal synostosis	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0008368	HP:0008368	Tarsal synostosis	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040283 - Occasional	493
HP:0008368	HP:0008368	Tarsal synostosis	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent	52
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent	52
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	52
HP:0008368	HP:0008368	Tarsal synostosis	0	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4	.	64
HP:0008368	HP:0008368	Tarsal synostosis	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0008368	HP:0008368	Tarsal synostosis	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040281 - Very frequent	106
HP:0008368	HP:0008368	Tarsal synostosis	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0008368	HP:0008368	Tarsal synostosis	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0008368	HP:0008368	Tarsal synostosis	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0008368	HP:0008368	Tarsal synostosis	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0008368	HP:0008368	Tarsal synostosis	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0008368	HP:0008368	Tarsal synostosis	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent	22
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0008368	HP:0008368	Tarsal synostosis	0	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome	HP:0040281 - Very frequent	22
HP:0008368	HP:0008368	Tarsal synostosis	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0008368	HP:0008368	Tarsal synostosis	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0008368	HP:0008368	Tarsal synostosis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0008368	HP:0008368	Tarsal synostosis	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0008368	HP:0008368	Tarsal synostosis	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0008368	HP:0008368	Tarsal synostosis	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0008368	HP:0008368	Tarsal synostosis	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0008368	HP:0008368	Tarsal synostosis	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54
HP:0008368	HP:0005802	Coalescence of tarsal bones	1	CL E G H
HP:0008368	HP:0100329	Tarsometatarsal synostosis	1	CL E G H
HP:0008368	HP:0008122	Calcaneonavicular fusion	1	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0008368	HP:0008122	Calcaneonavicular fusion	1	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0008368	HP:0008097	Partial fusion of tarsals	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0008368	HP:0005682	Talocalcaneal synostosis	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55

Genes (25) :ATP7A BMPR1B CHSY1 FBLN1 FGFR1 FGFR2 FGFR3 FLNA FLNB GDF5 GDF6 GLI3 LMBR1 MAP3K7 MKKS MYH3 NALCN NOG OFD1 POR SMOC1 TBX4 TNNI2 TNNT3 TPM2

Diseases (33) :ORPHA:565 OMIM:609441 ORPHA:2098 ORPHA:2639 OMIM:605282 ORPHA:363417 OMIM:608180 OMIM:123150 ORPHA:53271 OMIM:305620 ORPHA:90652 OMIM:272460 ORPHA:968 OMIM:610017 ORPHA:3250 OMIM:617898 ORPHA:93322 ORPHA:2378 OMIM:157800 ORPHA:2473 OMIM:178110 OMIM:618469 ORPHA:1147 OMIM:611377 OMIM:186500 OMIM:185800 OMIM:186570 ORPHA:1412 ORPHA:2750 OMIM:201750 ORPHA:95699 ORPHA:1106 OMIM:147891

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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