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:
Aplasia/Hypoplasia of metatarsal bones (HP:0001964)

Grandparent Node:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Grandparent Node:
Short long bone (HP:0003026)

Parent Node:
Abnormality of the fifth metatarsal bone (HP:0008089)

Parent Node:
Short metatarsal (HP:0010743)

..Starting node
..Short fifth metatarsal (HP:0004704)

Term ID:

4704

Name:

Short fifth metatarsal

Synonym:

Hypoplasia of the fifth metatarsal bone; Short 5th long bone of foot

Definition:

Short (hypoplastic) fifth metatarsal bone.

Comments:

Reference:

HP:0004704

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short first metatarsal (HP:0010105)

Short fourth metatarsal (HP:0004689)

Short second metatarsal (HP:0011845)

Short third metatarsal (HP:0004686)

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:0004704	HP:0004704	Short fifth metatarsal	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0004704	HP:0004704	Short fifth metatarsal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0004704	HP:0004704	Short fifth metatarsal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0004704	HP:0004704	Short fifth metatarsal	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004704	HP:0004704	Short fifth metatarsal	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0004704	HP:0004704	Short fifth metatarsal	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040283 - Occasional	69
HP:0004704	HP:0004704	Short fifth metatarsal	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241

Genes (6) :CDC42BPB GNAS HEPHL1 HOXD13 RIPK4 TCF4

Diseases (7) :OMIM:619841 ORPHA:79443 ORPHA:79444 OMIM:261990 ORPHA:93409 ORPHA:1401 OMIM:610954

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