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:
Abnormal 5th finger phalanx morphology (HP:0004213)

Grandparent Node:
Finger symphalangism (HP:0009700)

Grandparent Node:
Symphalangism affecting the phalanges of the hand (HP:0009773)

Parent Node:
Abnormality of the proximal phalanx of the 5th finger (HP:0009150)

Parent Node:
Symphalangism affecting the proximal phalanges of the hand (HP:0009857)

Parent Node:
Symphalangism of the 5th finger (HP:0004218)

..Starting node
..Symphalangism affecting the proximal phalanx of the 5th finger (HP:0009232)

Term ID:

9232

Name:

Symphalangism affecting the proximal phalanx of the 5th finger

Synonym:

Fused innermost bone of little finger; Fused innermost bone of pinkie finger; Fused innermost bone of pinky finger

Definition:

Fusion of the proximal phalanx of the 5th finger with another bone.

Comments:

Reference:

HP:0009232

Genes and Diseases:

Child Nodes:

........

Proximal/middle symphalangism of 5th finger (HP:0009177)

........

Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal (HP:0009234)

Sister Nodes:

Symphalangism of middle phalanx of 5th finger (HP:0009178)

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:0009232	HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0009232	HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0009232	HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009232	HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009232	HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009232	HP:0009234	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	1	CL E G H
HP:0009232	HP:0009177	Proximal/middle symphalangism of 5th finger	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0009232	HP:0009177	Proximal/middle symphalangism of 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0009232	HP:0009177	Proximal/middle symphalangism of 5th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009232	HP:0009177	Proximal/middle symphalangism of 5th finger	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	.	22
HP:0009232	HP:0009177	Proximal/middle symphalangism of 5th finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120

Genes (4) :BHLHA9 GDF5 NOG ROR2

Diseases (5) :OMIM:609432 OMIM:615298 OMIM:186500 OMIM:184460 OMIM:268310

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

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