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 neck/head morphology (HP:0003366)

Parent Node:
Abnormal femoral head morphology (HP:0003368)

..Starting node
..Flattened femoral head (HP:0008812)

Term ID:

8812

Name:

Flattened femoral head

Synonym:

Flat head of thigh bone; Flattened femoral heads

Definition:

An abnormally flattened femoral head.

Comments:

Reference:

HP:0008812

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Broad femoral head (HP:0008804)

Delayed femoral head ossification (HP:0008829)

Dislocation of the femoral head (HP:0008826)

Dysplasia of the femoral head (HP:0010575)

Hypoplasia of the femoral head (HP:0008802)

Internal notch of the femoral head (HP:0031027)

Lateral displacement of the femoral head (HP:0006453)

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:0008812	HP:0008812	Flattened femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	284
HP:0008812	HP:0008812	Flattened femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0008812	HP:0008812	Flattened femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0008812	HP:0008812	Flattened femoral head	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0008812	HP:0008812	Flattened femoral head	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0008812	HP:0008812	Flattened femoral head	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0008812	HP:0008812	Flattened femoral head	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0008812	HP:0008812	Flattened femoral head	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0008812	HP:0008812	Flattened femoral head	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	214

Genes (7) :COL2A1 GLB1 PRG4 RAB33B RSPRY1 TRAPPC2 TRPV4

Diseases (8) :ORPHA:86820 ORPHA:166011 ORPHA:1856 ORPHA:79255 ORPHA:2848 OMIM:615222 ORPHA:457395 ORPHA:93284

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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