Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 femoral head morphology (HP:0003368)

Grandparent Node:
Abnormality of femoral epiphysis (HP:0006499)

Parent Node:
Abnormality of the epiphysis of the femoral head (HP:0010574)

..Starting node
..Proximal femoral epiphysiolysis (HP:0006461)

Term ID:

6461

Name:

Proximal femoral epiphysiolysis

Synonym:

Slipped capital femoral epiphyses; Slipped capital femoral epiphysis; Slipped end part of innermost thighbone

Definition:

Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.

Comments:

Reference:

HP:0006461

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

Avascular necrosis of the capital femoral epiphysis (HP:0005743)

Cone-shaped capital femoral epiphysis (HP:0008789)

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Early ossification of capital femoral epiphyses (HP:0008797)

Enlargement of the proximal femoral epiphysis (HP:0003371)

Flat capital femoral epiphysis (HP:0003370)

Irregular capital femoral epiphysis (HP:0005041)

Multicentric ossification of proximal femoral epiphyses (HP:0006450)

Wide capital femoral epiphyses (HP:0008784)

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:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0006461	HP:0006461	Proximal femoral epiphysiolysis	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.

Genes (8) :BRF1 DNAJC21 EFL1 PCNT RET RSPRY1 SBDS SRP54

Diseases (7) :OMIM:616202 ORPHA:811 OMIM:260400 OMIM:210720 OMIM:162300 ORPHA:457395 OMIM:616723

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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