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 foot morphology (HP:0001760)

Grandparent Node:
Abnormal lower limb bone morphology (HP:0040069)

Parent Node:
Abnormality of bone mineral density (HP:0004348)

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

..Starting node
..Abnormal tarsal bone mineral density (HP:0009132)

Term ID:

9132

Name:

Abnormal tarsal bone mineral density

Synonym:

Abnormality of bone mineral density involving tarsal bones

Definition:

This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.

Comments:

Reference:

HP:0009132

Genes and Diseases:

Child Nodes:

........

Osteoporotic tarsals (HP:0008076)

........

Tarsal sclerosis (HP:0031051)

................... HP:0008131 Tarsal stippling

Sister Nodes:

Abnormal talus morphology (HP:0008365)

Abnormal tarsal ossification (HP:0008369)

Abnormality of the calcaneus (HP:0008364)

Abnormality of the os naviculare pedis (HP:0100339)

Aplasia/Hypoplasia of the tarsal bones (HP:0008363)

Deformed tarsal bones (HP:0008119)

Flattening of the talar dome (HP:0008144)

Irregular tarsal bones (HP:0004688)

Large tarsal bones (HP:0004679)

Osteolysis involving tarsal bones (HP:0006234)

Tarsal synostosis (HP:0008368)

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:0009132	HP:0009132	Abnormal tarsal bone mineral density	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0009132	HP:0009132	Abnormal tarsal bone mineral density	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009132	HP:0009132	Abnormal tarsal bone mineral density	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0009132	HP:0008076	Osteoporotic tarsals	1	CL E G H
HP:0009132	HP:0031051	Tarsal sclerosis	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0009132	HP:0031051	Tarsal sclerosis	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009132	HP:0031051	Tarsal sclerosis	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0009132	HP:0008131	Tarsal stippling	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51

Genes (3) :EBP LEMD3 NGLY1

Diseases (3) :OMIM:302960 ORPHA:166119 ORPHA:404454

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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