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 respiratory system physiology (HP:0002795)

Parent Node:
Abnormality on pulmonary function testing (HP:0030878)

Parent Node:
Respiratory insufficiency (HP:0002093)

Parent Node:
Restrictive ventilatory defect (HP:0002091)

..Starting node
..obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Term ID:

2111

Name:

obsolete Restrictive deficit on pulmonary function testing

Synonym:

Definition:

Comments:

Reference:

HP:0002111

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	126	3954	601278
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	HES7 CL E G H	84667	613686	Spondylocostal dysostosis 4, autosomal recessive	613686	C3150942	OMIM	1	96	15977	608059
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MYH7 CL E G H	4625	324604				ORPHA	1	3612	7577	160760
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	SELENON CL E G H	57190	324604				ORPHA	1	537	15999	606210
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	537	15999	606210
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	911	10914	604878
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	82	11020	604217
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	188	28423	615521
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	TTN CL E G H	7273	178464				ORPHA	1	22859	12403	188840
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	TTN CL E G H	7273	324604				ORPHA	1	22859	12403	188840
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	0	MESP2 CL E G H	145873	608681	Spondylocostal dysostosis 2	608681	C1837549	OMIM	0	337	29659	605195

Genes (18) :FKRP FRG1 HES7 MESP2 MT-TL1 MT-TL2 MT-TN MT-TS1 MYH7 SELENON SLC12A6 SLC34A2 STAC3 TRNL1 TRNL2 TRNN TRNS1 TTN

Diseases (12) :606612 607155 158900 613686 608681 324604 602771 218000 265100 255995 663 178464

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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