Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Deviation of finger (HP:0004097)

Grandparent Node:
Radial deviation of the hand or of fingers of the hand (HP:0009485)

Parent Node:
Abnormality of the distal phalanx of the thumb (HP:0009617)

Parent Node:
Deviation of the thumb (HP:0009603)

Parent Node:
Radial deviation of finger (HP:0009466)

..Starting node
..Hitchhiker thumb (HP:0001234)

Term ID:

1234

Name:

Hitchhiker thumb

Synonym:

Abducted thumb; Hitchhiker thumb

Definition:

With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.

Comments:

Reference:

HP:0001234

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Radial deviation of the thumb (HP:0040021)

Radial deviation of the 2nd finger (HP:0009467)

Radial deviation of the 3rd finger (HP:0009462)

Radial deviation of the 4th finger (HP:0009279)

Radial deviation of the 5th finger (HP:0040020)

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:0001234	HP:0001234	Hitchhiker thumb	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0001234	HP:0001234	Hitchhiker thumb	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0001234	HP:0001234	Hitchhiker thumb	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001234	HP:0001234	Hitchhiker thumb	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0001234	HP:0001234	Hitchhiker thumb	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0001234	HP:0001234	Hitchhiker thumb	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0001234	HP:0001234	Hitchhiker thumb	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0001234	HP:0001234	Hitchhiker thumb	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166

Genes (6) :ALG9 CHSY1 CILK1 FLNB MEGF8 SLC26A2

Diseases (8) :ORPHA:79328 OMIM:605282 OMIM:612651 OMIM:108721 OMIM:614976 ORPHA:56304 OMIM:256050 OMIM:222600

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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