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 the metacarpal bones (HP:0001163)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Parent Node:
Abnormal metacarpal morphology (HP:0005916)

..Starting node
..Broad metacarpals (HP:0001230)

Term ID:

1230

Name:

Broad metacarpals

Synonym:

Wide long bones of hand; Wide metacarpals

Definition:

Abnormally broad metacarpal bones.

Comments:

Reference:

HP:0001230

Genes and Diseases:

Child Nodes:

........

Broad 1st metacarpal (HP:0010027)

Sister Nodes:

Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Archibald's sign (HP:0031809)

Distal widening of metacarpals (HP:0006048)

Expanded metacarpals with widened medullary cavities (HP:0006232)

Flattened metacarpal heads (HP:0011909)

Irregular metacarpals (HP:0006160)

Long metacarpals (HP:0010493)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Metacarpal synostosis (HP:0009701)

Proximal tapering of metacarpals (HP:0006119)

Slender metacarpals (HP:0006236)

Tapered metacarpals (HP:0006108)

Thin metacarpal cortices (HP:0006086)

Tubular metacarpal bones (HP:0006166)

Widened metacarpal shaft (HP:0006012)

Y-shaped metacarpals (HP:0006042)

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:0001230	HP:0001230	Broad metacarpals	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0001230	HP:0001230	Broad metacarpals	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0001230	HP:0001230	Broad metacarpals	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	90
HP:0001230	HP:0001230	Broad metacarpals	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0001230	HP:0001230	Broad metacarpals	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0001230	HP:0001230	Broad metacarpals	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001230	HP:0001230	Broad metacarpals	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001230	HP:0001230	Broad metacarpals	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0001230	HP:0001230	Broad metacarpals	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	52
HP:0001230	HP:0001230	Broad metacarpals	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0001230	HP:0001230	Broad metacarpals	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0001230	HP:0001230	Broad metacarpals	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001230	HP:0001230	Broad metacarpals	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040283 - Occasional	44
HP:0001230	HP:0001230	Broad metacarpals	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	2
HP:0001230	HP:0001230	Broad metacarpals	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0001230	HP:0001230	Broad metacarpals	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent	64
HP:0001230	HP:0001230	Broad metacarpals	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0001230	HP:0001230	Broad metacarpals	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0001230	HP:0001230	Broad metacarpals	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0001230	HP:0001230	Broad metacarpals	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001230	HP:0010027	Broad 1st metacarpal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101

Genes (19) :ADAMTS10 BGN BMPR1B DDR2 DNMT3A EXTL3 FBN1 FGFR1 GDF5 GLB1 GNAS IFT140 IHH MMP14 MMP2 NPR2 PDE4D SLC26A2 TFE3

Diseases (17) :OMIM:277600 OMIM:300106 ORPHA:93388 OMIM:271665 OMIM:618724 ORPHA:508533 OMIM:608328 OMIM:166250 ORPHA:79255 ORPHA:79443 OMIM:266920 ORPHA:371428 OMIM:259600 OMIM:602875 ORPHA:439822 ORPHA:56304 OMIM:301066

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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