Synostosis of thumb phalanx - Ontology Report

HUMAN PHENOTYPE - ANNOTATIONS	{{ watchLinkText }}
The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:	Synostosis of thumb phalanx	go back to main search page
Accession:	HP:0009635	browse the term
Definition:	Fusion of a phalanx of the thumb with another bone.
Synonyms:	exact_synonym:	Fusion of thumb bone
	xref:	UMLS:C4024263

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Rat (0) Mouse (0) Human (2) Chinchilla (0) Bonobo (0) Dog (0) Squirrel (0) Pig (0) Green Monkey (0) Naked Mole-rat (0) All
Genes (2)

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NONO

non-POU domain containing octamer binding

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

polyglutamine binding protein 1

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

Term paths to the root

Path 1
Term	Annotations
Human phenotype	21554
Phenotypic abnormality	21544
Abnormality of limbs	2585
Abnormality of the upper limb	1824
Abnormality of the hand	1655
Abnormal finger morphology	1290
Abnormal finger phalanx morphology	712
Symphalangism affecting the phalanges of the hand	23
Symphalangism of middle phalanx of finger	7
Synostosis of thumb phalanx	2
Symphalangism of the thumb	0
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2
Path 2
Term	Annotations
Human phenotype	21554
Phenotypic abnormality	21544
Abnormality of the musculoskeletal system	4416
Abnormality of the skeletal system	3652
Abnormal skeletal morphology	3532
Abnormal appendicular skeleton morphology	1997
Abnormal limb bone morphology	1866
Abnormal digit morphology	1635
Abnormal finger morphology	1290
Abnormal finger phalanx morphology	712
Symphalangism affecting the phalanges of the hand	23
Symphalangism of middle phalanx of finger	7
Synostosis of thumb phalanx	2
Symphalangism of the thumb	0
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2

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