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 hand (HP:0001155)

Grandparent Node:
Abnormality of the musculature of the upper limbs (HP:0001446)

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

..Starting node
..Abnormality of the hypothenar eminence (HP:0010486)

Term ID:

10486

Name:

Abnormality of the hypothenar eminence

Synonym:

Definition:

An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).

Comments:

Reference:

HP:0010486

Genes and Diseases:

Child Nodes:

........

Small hypothenar eminence (HP:0010487)

Sister Nodes:

Abnormality of the thenar eminence (HP:0001227)

Hand muscle atrophy (HP:0009130)

Hand muscle weakness (HP:0030237)

Hypotrophy of the small hand muscles (HP:0006006)

Weakness of the intrinsic hand muscles (HP:0009005)

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:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0010486	HP:0010486	Abnormality of the hypothenar eminence	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0010486	HP:0010487	Small hypothenar eminence	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0010486	HP:0010487	Small hypothenar eminence	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0010486	HP:0010487	Small hypothenar eminence	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22

Genes (6) :AAAS EIF4A3 FGD4 GMPPA RPL11 TRAPPC11

Diseases (4) :ORPHA:869 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.