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 thorax morphology (HP:0000765)

Parent Node:
Abnormal clavicle morphology (HP:0000889)

..Starting node
..Long clavicles (HP:0000890)

Term ID:

890

Name:

Long clavicles

Synonym:

Elongated clavicles; Long collarbone

Definition:

Increased length of the clavicles.

Comments:

Reference:

HP:0000890

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the clavicles (HP:0006710)

Broad clavicles (HP:0000916)

Clavicular sclerosis (HP:0100923)

Lateral clavicle hook (HP:0000895)

Medial widening of clavicles (HP:0006599)

Progressive clavicular acroosteolysis (HP:0000905)

Straight clavicles (HP:0006587)

Thin clavicles (HP:0006645)

Undulate clavicles (HP:0010560)

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:0000890	HP:0000890	Long clavicles	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000890	HP:0000890	Long clavicles	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000890	HP:0000890	Long clavicles	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000890	HP:0000890	Long clavicles	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000890	HP:0000890	Long clavicles	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000890	HP:0000890	Long clavicles	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0000890	HP:0000890	Long clavicles	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000890	HP:0000890	Long clavicles	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000890	HP:0000890	Long clavicles	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000890	HP:0000890	Long clavicles	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0000890	HP:0000890	Long clavicles	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000890	HP:0000890	Long clavicles	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000890	HP:0000890	Long clavicles	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000890	HP:0000890	Long clavicles	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000890	HP:0000890	Long clavicles	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5

Genes (15) :CHRNG COL11A1 CSPP1 DLK1 FLNB HPGD KIAA0586 LBR MEG3 PCNT RNU4ATAC RTL1 SETBP1 TBCE TBX15

Diseases (12) :OMIM:265000 OMIM:228520 ORPHA:397715 ORPHA:96334 OMIM:108720 OMIM:259100 OMIM:215140 OMIM:210720 OMIM:210710 OMIM:269150 OMIM:244460 OMIM:260660

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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