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 long bone morphology (HP:0011314)

Parent Node:
Aplasia/hypoplasia of the femur (HP:0005613)

Parent Node:
Short long bone (HP:0003026)

..Starting node
..Short femur (HP:0003097)

Term ID:

3097

Name:

Short femur

Synonym:

Femoral hypoplasia; Hypoplasia of the femora; Short femurs; Short thighbone

Definition:

An abnormal shortening of the femur.

Comments:

Reference:

HP:0003097

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fibular hypoplasia (HP:0003038)

Forearm undergrowth (HP:0009821)

Short humerus (HP:0005792)

Short metatarsal (HP:0010743)

Short tibia (HP:0005736)

Short tubular bones of the hand (HP:0001248)

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:0003097	HP:0003097	Short femur	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.	117
HP:0003097	HP:0003097	Short femur	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0003097	HP:0003097	Short femur	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0003097	HP:0003097	Short femur	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0003097	HP:0003097	Short femur	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003097	HP:0003097	Short femur	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0003097	HP:0003097	Short femur	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0003097	HP:0003097	Short femur	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0003097	HP:0003097	Short femur	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003097	HP:0003097	Short femur	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0003097	HP:0003097	Short femur	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0003097	HP:0003097	Short femur	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0003097	HP:0003097	Short femur	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0003097	HP:0003097	Short femur	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003097	HP:0003097	Short femur	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0003097	HP:0003097	Short femur	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0003097	HP:0003097	Short femur	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0003097	HP:0003097	Short femur	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0003097	HP:0003097	Short femur	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0003097	HP:0003097	Short femur	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0003097	HP:0003097	Short femur	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0003097	HP:0003097	Short femur	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2
HP:0003097	HP:0003097	Short femur	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0003097	HP:0003097	Short femur	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0003097	HP:0003097	Short femur	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72

Genes (22) :AGPS ALG12 AMMECR1 BHLHA9 CAMK2A COL11A1 COL2A1 CPLANE1 FGFR3 FLNB GDF5 IHH POLR3A PUF60 RNU4ATAC SALL4 SLC26A2 SUCLG1 TAPT1 TBX15 TBX4 TNFRSF11A

Diseases (25) :OMIM:600121 OMIM:607143 OMIM:300990 ORPHA:3329 OMIM:617798 ORPHA:440354 ORPHA:94068 OMIM:277170 OMIM:100800 ORPHA:1860 ORPHA:1190 OMIM:108720 OMIM:200700 OMIM:607778 ORPHA:3455 OMIM:264090 ORPHA:508488 OMIM:210710 OMIM:147750 ORPHA:56304 ORPHA:17 OMIM:616897 ORPHA:93333 OMIM:147891 OMIM:602080

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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