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:
Hip dislocation (HP:0002827)

Parent Node:
Congenital hip dislocation (HP:0001374)

..Starting node
..Congenital bilateral hip dislocation (HP:0008780)

Term ID:

8780

Name:

Congenital bilateral hip dislocation

Synonym:

Definition:

Comments:

Reference:

HP:0008780

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008780	HP:0008780	Congenital bilateral hip dislocation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent	42
HP:0008780	HP:0008780	Congenital bilateral hip dislocation	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12

Genes (7) :CLTCL1 COL12A1 COL1A1 FBLN1 PLOD1 SHROOM4 TELO2

Diseases (7) :ORPHA:453510 ORPHA:536516 OMIM:130060 ORPHA:404451 ORPHA:1900 ORPHA:85288 ORPHA:488642

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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