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:
Abnormality of the musculature of the hand (HP:0001421)

Parent Node:
Abnormality of the hypothenar eminence (HP:0010486)

..Starting node
..Small hypothenar eminence (HP:0010487)

Term ID:

10487

Name:

Small hypothenar eminence

Synonym:

Hypoplasia of the hypothenar eminence; Hypothenar hypoplasia

Definition:

Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.

Comments:

Reference:

HP:0010487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010487	HP:0010487	Small hypothenar eminence	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	4
HP:0010487	HP:0010487	Small hypothenar eminence	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H	158
HP:0010487	HP:0010487	Small hypothenar eminence	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	22

Genes (3) :EIF4A3 FGD4 RPL11

Diseases (3) :OMIM:268305 OMIM:609311 OMIM:612562

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