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 proximal phalanx of the thumb (HP:0009618)

Grandparent Node:
Symphalangism of middle phalanx of finger (HP:0009849)

Parent Node:
Metacarpophalangeal synostosis (HP:0005880)

Parent Node:
Proximal symphalangism of hands (HP:0006152)

Parent Node:
Synostosis involving the 1st metacarpal (HP:0009703)

Parent Node:
Synostosis of thumb phalanx (HP:0009635)

..Starting node
..Synostosis of the proximal phalanx of the thumb with the 1st metacarpal (HP:0009640)

Term ID:

9640

Name:

Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

Synonym:

Ankylosis of the metacarpophalangeal joint of the thumb; Fusion of the innermost bone of the thumb with the 1st long bone of hand

Definition:

Fusion of the proximal phalanx of the thumb with the 1st metacarpal.

Comments:

Reference:

HP:0009640

Genes and Diseases:

Child Nodes:

Sister Nodes:

Symphalangism of the thumb (HP:0009656)

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:0009640	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0009640	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28

Genes (2) :NONO PQBP1

Diseases (2) :OMIM:300967 OMIM:309500

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