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 finger (HP:0001167)

Parent Node:
Abnormal finger phalanx morphology (HP:0005918)

..Starting node
..Long phalanx of finger (HP:0006155)

Term ID:

6155

Name:

Long phalanx of finger

Synonym:

Long finger bone

Definition:

Increased length of multiple or a single phalanx of finger.

Comments:

Reference:

HP:0006155

Genes and Diseases:

Child Nodes:

........

Long proximal phalanx of finger (HP:0006127)

Sister Nodes:

Abnormal 3rd finger phalanx morphology (HP:0009316)

Abnormal 4th finger phalanx morphology (HP:0009172)

Abnormal 5th finger phalanx morphology (HP:0004213)

Abnormal distal phalanx morphology of finger (HP:0009832)

Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)

Abnormal middle phalanx morphology of the hand (HP:0009833)

Abnormal phalangeal joint morphology of the hand (HP:0006261)

Abnormal proximal phalanx morphology of the hand (HP:0009834)

Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Broad phalanges of the hand (HP:0009768)

Bullet-shaped phalanges of the hand (HP:0009769)

Curved phalanges of the hand (HP:0009770)

Duplication of phalanx of hand (HP:0009997)

Finger hyperphalangy (HP:0030367)

Irregular phalanges (HP:0006205)

Osteolytic defects of the phalanges of the hand (HP:0009771)

Partial absence of finger (HP:0011299)

Phalangeal dislocation (HP:0006243)

Sclerosis of finger phalanx (HP:0100899)

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

Tapered phalanx of finger (HP:0006192)

Triangular shaped phalanges of the hand (HP:0009774)

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:0006155	HP:0006155	Long phalanx of finger	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0006155	HP:0006155	Long phalanx of finger	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0006155	HP:0006155	Long phalanx of finger	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0006155	HP:0006127	Long proximal phalanx of finger	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (3) :FLNA KIF22 NSD1

Diseases (3) :OMIM:305620 OMIM:603546 OMIM:117550

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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