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 hip joint morphology (HP:0001384)

Parent Node:
Abnormal acetabulum morphology (HP:0003170)

..Starting node
..Acetabular dysplasia (HP:0008807)

Term ID:

8807

Name:

Acetabular dysplasia

Synonym:

Dysplastic acetabulae

Definition:

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.

Comments:

Reference:

HP:0008807

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acetabular spurs (HP:0010454)

Flat acetabular roof (HP:0003180)

Hypoplastic acetabulae (HP:0003274)

Irregular acetabular roof (HP:0008833)

Protrusio acetabuli (HP:0003179)

Shallow acetabular fossae (HP:0003182)

Steep acetabular roof (HP:0010455)

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:0008807	HP:0008807	Acetabular dysplasia	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0008807	HP:0008807	Acetabular dysplasia	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	49
HP:0008807	HP:0008807	Acetabular dysplasia	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0008807	HP:0008807	Acetabular dysplasia	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	48
HP:0008807	HP:0008807	Acetabular dysplasia	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	41
HP:0008807	HP:0008807	Acetabular dysplasia	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare	18
HP:0008807	HP:0008807	Acetabular dysplasia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0008807	HP:0008807	Acetabular dysplasia	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0008807	HP:0008807	Acetabular dysplasia	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0008807	HP:0008807	Acetabular dysplasia	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0008807	HP:0008807	Acetabular dysplasia	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0008807	HP:0008807	Acetabular dysplasia	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0008807	HP:0008807	Acetabular dysplasia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0008807	HP:0008807	Acetabular dysplasia	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0008807	HP:0008807	Acetabular dysplasia	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0008807	HP:0008807	Acetabular dysplasia	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	.	5
HP:0008807	HP:0008807	Acetabular dysplasia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0008807	HP:0008807	Acetabular dysplasia	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0008807	HP:0008807	Acetabular dysplasia	0	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0008807	HP:0008807	Acetabular dysplasia	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0008807	HP:0008807	Acetabular dysplasia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0008807	HP:0008807	Acetabular dysplasia	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0008807	HP:0008807	Acetabular dysplasia	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008807	HP:0008807	Acetabular dysplasia	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome	.	1

Genes (23) :AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 B3GALT6 CHRNG COL25A1 COMP EIF4A3 ERGIC1 EXTL3 GLB1 GUSB MYO18B NRCAM POLR1A RPS15A SCYL2 SLC26A2 SLC35A3 TIMM22 VPS33A

Diseases (19) :OMIM:608233 ORPHA:280763 OMIM:614066 ORPHA:536467 OMIM:265000 ORPHA:1143 ORPHA:750 OMIM:268305 ORPHA:508533 ORPHA:79255 OMIM:253220 OMIM:616549 OMIM:619833 OMIM:616462 OMIM:618313 ORPHA:93307 OMIM:615553 OMIM:618851 OMIM:617303

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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