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 epiphysis morphology (HP:0005930)

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

Parent Node:
Absent epiphyses (HP:0010577)

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

Term ID:

5003

Name:

Aplasia/Hypoplasia of the capital femoral epiphysis

Synonym:

Absent/small end part of innermost thighbone; Absent/underdeveloped end part of innermost thighbone

Definition:

Absence or underdevelopment of the proximal epiphysis of the femur.

Comments:

Reference:

HP:0005003

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the capital femoral epiphysis (HP:0003090)

........

Absent ossification of capital femoral epiphysis (HP:0008820)

Sister Nodes:

Absent epiphyses of the phalanges of the hand (HP:0010228)

Absent epiphyses of the toes (HP:0010162)

Absent knee epiphyses (HP:0006400)

Absent metacarpal epiphyses (HP:0009196)

Absent proximal radial epiphyses (HP:0005093)

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:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0005003	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0005003	HP:0008820	Absent ossification of capital femoral epiphysis	1	CL E G H
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0005003	HP:0003090	Hypoplasia of the capital femoral epiphysis	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46

Genes (17) :ADAMTSL2 CANT1 CDC6 CHST3 COL11A2 COL2A1 COMP DYM EXTL3 HS2ST1 IFT140 KIF22 MATN3 PIK3C2A PLOD3 SMARCAL1 TRAPPC2

Diseases (17) :OMIM:231050 OMIM:617719 OMIM:613805 OMIM:143095 OMIM:215150 ORPHA:85166 ORPHA:750 ORPHA:239 OMIM:617425 OMIM:619194 OMIM:266920 OMIM:603546 OMIM:607078 ORPHA:557003 OMIM:612394 OMIM:242900 OMIM:313400

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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