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:
Abnormality of fibula morphology (HP:0002991)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Aplasia/Hypoplasia of the fibula (HP:0006492)

..Starting node
..Fibular aplasia (HP:0002990)

Term ID:

2990

Name:

Fibular aplasia

Synonym:

Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae

Definition:

Absence of the fibula.

Comments:

Reference:

HP:0002990

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fibular hypoplasia (HP:0003038)

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:0002990	HP:0002990	Fibular aplasia	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002990	HP:0002990	Fibular aplasia	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0002990	HP:0002990	Fibular aplasia	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002990	HP:0002990	Fibular aplasia	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0002990	HP:0002990	Fibular aplasia	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0002990	HP:0002990	Fibular aplasia	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002990	HP:0002990	Fibular aplasia	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0002990	HP:0002990	Fibular aplasia	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0002990	HP:0002990	Fibular aplasia	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0002990	HP:0002990	Fibular aplasia	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002990	HP:0002990	Fibular aplasia	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002990	HP:0002990	Fibular aplasia	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0002990	HP:0002990	Fibular aplasia	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0002990	HP:0002990	Fibular aplasia	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.	13
HP:0002990	HP:0002990	Fibular aplasia	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0002990	HP:0002990	Fibular aplasia	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (10) :AMER1 BMPR1B CPLANE1 FLNA FLNB GDF5 LMBR1 RBM8A TBX15 WNT7A

Diseases (16) :OMIM:300373 OMIM:609441 OMIM:277170 ORPHA:90652 ORPHA:56305 OMIM:108720 OMIM:112310 OMIM:228900 ORPHA:931 OMIM:200500 OMIM:274000 ORPHA:3320 OMIM:260660 OMIM:228930 ORPHA:2879 OMIM:276820

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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