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)

Parent Node:
Absent toe (HP:0010760)

Parent Node:
Oligodactyly (HP:0012165)

..Starting node
..Foot oligodactyly (HP:0001849)

Term ID:

1849

Name:

Foot oligodactyly

Synonym:

Missing toes; Oligodactyly of feet

Definition:

A developmental defect resulting in the presence of fewer than the normal number of toes.

Comments:

Reference:

HP:0001849

Genes and Diseases:

Child Nodes:

........

Foot monodactyly (HP:0200054)

Sister Nodes:

Hand oligodactyly (HP:0001180)

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:0001849	HP:0001849	Foot oligodactyly	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0001849	HP:0001849	Foot oligodactyly	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001849	HP:0001849	Foot oligodactyly	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0001849	HP:0001849	Foot oligodactyly	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0001849	HP:0001849	Foot oligodactyly	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0001849	HP:0001849	Foot oligodactyly	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001849	HP:0001849	Foot oligodactyly	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0001849	HP:0001849	Foot oligodactyly	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0001849	HP:0001849	Foot oligodactyly	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0001849	HP:0001849	Foot oligodactyly	0	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0001849	HP:0001849	Foot oligodactyly	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001849	HP:0001849	Foot oligodactyly	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0001849	HP:0001849	Foot oligodactyly	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0001849	HP:0200054	Foot monodactyly	1	CL E G H

Genes (10) :APC DLL4 DLX5 GLI3 LRP4 PORCN SF3B4 SMOC1 WNT10B WNT7A

Diseases (12) :ORPHA:3258 OMIM:616589 OMIM:183600 ORPHA:93322 OMIM:305600 OMIM:154400 ORPHA:1106 OMIM:206920 OMIM:225300 OMIM:228930 ORPHA:2879 OMIM:276820

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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