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:
Abnormal digit morphology (HP:0011297)

Grandparent Node:
Abnormal foot morphology (HP:0001760)

Parent Node:
Abnormality of toe (HP:0001780)

..Starting node
..Slender toe (HP:0011308)

Term ID:

11308

Name:

Slender toe

Synonym:

Narrow toe; Slender toe

Definition:

Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.

Comments:

Reference:

HP:0011308

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the 2nd toe (HP:0010319)

Abnormality of the 3rd toe (HP:0010320)

Abnormality of the 4th toe (HP:0010321)

Abnormality of the 5th toe (HP:0010322)

Abnormality of the epiphyses of the toes (HP:0010160)

Abnormality of the hallux (HP:0001844)

Abnormality of the phalanges of the toes (HP:0010161)

Ainhum (HP:0031009)

Aplasia/Hypoplasia of toe (HP:0001991)

Broad toe (HP:0001837)

Bulbous tips of toes (HP:0001782)

Deviation of toes (HP:0100498)

Dislocation of toes (HP:0008141)

Flexion contracture of toe (HP:0005830)

Foot polydactyly (HP:0001829)

Hammertoe (HP:0001765)

Hypermobility of toe joints (HP:0010510)

Long toe (HP:0010511)

Macrodactyly of toe (HP:0100747)

Overlapping toe (HP:0001845)

Sandal gap (HP:0001852)

Splayed toes (HP:0011307)

Tapered toe (HP:0011309)

Toe dactylitis (HP:0031091)

Toe syndactyly (HP:0001770)

Widely spaced toes (HP:0008094)

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:0011308	HP:0011308	Slender toe	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0011308	HP:0011308	Slender toe	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0011308	HP:0011308	Slender toe	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0011308	HP:0011308	Slender toe	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent	19
HP:0011308	HP:0011308	Slender toe	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0011308	HP:0011308	Slender toe	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546

Genes (6) :B4GALT7 MTM1 PPP1R15B SMS TRMT10A VPS13B

Diseases (5) :OMIM:130070 OMIM:310400 ORPHA:391408 ORPHA:3063 ORPHA:193

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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