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 toe (HP:0001991)

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Short 2nd toe (HP:0001885)

Term ID:

1885

Name:

Short 2nd toe

Synonym:

Short second toe

Definition:

Underdevelopment (hypoplasia) of the second toe.

Comments:

Reference:

HP:0001885

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 3rd toe (HP:0005643)

Short 4th toe (HP:0008093)

Short 5th toe (HP:0011917)

Short hallux (HP:0010109)

Short middle phalanx of toe (HP:0003795)

Short proximal phalanx of toe (HP:0011928)

Shortening of all phalanges of the toes (HP:0005035)

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:0001885	HP:0001885	Short 2nd toe	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001885	HP:0001885	Short 2nd toe	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001885	HP:0001885	Short 2nd toe	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001885	HP:0001885	Short 2nd toe	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0001885	HP:0001885	Short 2nd toe	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201

Genes (4) :C12ORF57 COX4I1 HOXA13 OFD1

Diseases (5) :OMIM:218340 OMIM:619060 OMIM:140000 OMIM:176305 OMIM:311200

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