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:
Abnormal foot morphology (HP:0001760)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

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

Parent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

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

Term ID:

8363

Name:

Aplasia/Hypoplasia of the tarsal bones

Synonym:

Absent/small ankle bone; Absent/underdeveloped ankle bone; Aplastic/hypoplastic tarsals

Definition:

Absence or underdevelopment of the tarsal bones.

Comments:

Reference:

HP:0008363

Genes and Diseases:

Child Nodes:

........

Aplasia of the tarsal bones (HP:0010509)

........

Hypoplasia of the calcaneus (HP:0012789)

Sister Nodes:

Absent foot (HP:0011301)

Aplasia/Hypoplasia of metatarsal bones (HP:0001964)

Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

Aplasia/Hypoplasia of toe (HP:0001991)

Lower limb peromelia (HP:0009820)

Partial absence of foot (HP:0030032)

Short foot (HP:0001773)

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:0008363	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0008363	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0008363	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0008363	HP:0008363	Aplasia/Hypoplasia of the tarsal bones	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0008363	HP:0012789	Hypoplasia of the calcaneus	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0008363	HP:0012789	Hypoplasia of the calcaneus	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0008363	HP:0010509	Aplasia of the tarsal bones	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106

Genes (4) :HDAC6 LBR LMBR1 WNT7A

Diseases (4) :OMIM:300863 OMIM:215140 OMIM:200500 OMIM:276820

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.