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 upper limb bone morphology (HP:0040070)

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormality of the metacarpal bones (HP:0001163)

..Starting node
..Supernumerary metacarpal bones (HP:0005917)

Term ID:

5917

Name:

Supernumerary metacarpal bones

Synonym:

Extra long bones of hand

Definition:

The presence of more than the normal number of metacarpal bones.

Comments:

Reference:

HP:0005917

Genes and Diseases:

Child Nodes:

........

6 metacarpals (HP:0001501)

........

Double first metacarpals (HP:0005894)

Sister Nodes:

Abnormal 1st metacarpal morphology (HP:0010009)

Abnormal 2nd metacarpal morphology (HP:0010010)

Abnormal 3rd metacarpal morphology (HP:0010011)

Abnormal 4th metacarpal morphology (HP:0010012)

Abnormal 5th metacarpal morphology (HP:0010013)

Abnormal metacarpal epiphysis morphology (HP:0005913)

Abnormal metacarpal morphology (HP:0005916)

Abnormal metacarpophalangeal joint morphology (HP:0011911)

Metacarpal osteolysis (HP:0001504)

Metacarpal periosteal thickening (HP:0006051)

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:0005917	HP:0005917	Supernumerary metacarpal bones	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0005917	HP:0005917	Supernumerary metacarpal bones	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0005917	HP:0005917	Supernumerary metacarpal bones	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0005917	HP:0005917	Supernumerary metacarpal bones	0	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV		106
HP:0005917	HP:0005917	Supernumerary metacarpal bones	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0005917	HP:0005894	Double first metacarpals	1	CL E G H
HP:0005917	HP:0001501	6 metacarpals	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0005917	HP:0001501	6 metacarpals	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	106
HP:0005917	HP:0001501	6 metacarpals	1	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV	.	106
HP:0005917	HP:0001501	6 metacarpals	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	67

Genes (4) :GLI3 HOXD13 LMBR1 SHH

Diseases (4) :ORPHA:672 OMIM:186000 ORPHA:93405 OMIM:186200

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