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
..Hypotrophy of the small hand muscles (HP:0006006)

Term ID:

6006

Name:

Hypotrophy of the small hand muscles

Synonym:

Degeneration of small hand muscles

Definition:

Comments:

Reference:

HP:0006006

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the hypothenar eminence (HP:0010486)

Abnormality of the thenar eminence (HP:0001227)

Hand muscle atrophy (HP:0009130)

Hand muscle weakness (HP:0030237)

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:0006006	HP:0006006	Hypotrophy of the small hand muscles	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0006006	HP:0006006	Hypotrophy of the small hand muscles	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0006006	HP:0006006	Hypotrophy of the small hand muscles	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11

Genes (3) :FLNA KANSL1 MAP3K7

Diseases (2) :ORPHA:1826 OMIM:610443

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