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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Thickened skin (HP:0001072)

..Starting node
..Scleroderma (HP:0100324)

Term ID:

100324

Name:

Scleroderma

Synonym:

Progressive systemic scleroderma; Pseudoscleroderma

Definition:

A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.

Comments:

Reference:

HP:0100324

Genes and Diseases:

Child Nodes:

........

Proximal scleroderma (HP:0550003)

Sister Nodes:

Epidermal thickening (HP:0011368)

Morphea (HP:0012344)

Sclerodactyly (HP:0011838)

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:0100324	HP:0100324	Scleroderma	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0100324	HP:0100324	Scleroderma	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0100324	HP:0100324	Scleroderma	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0100324	HP:0100324	Scleroderma	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0100324	HP:0100324	Scleroderma	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0100324	HP:0100324	Scleroderma	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040282 - Frequent	68
HP:0100324	HP:0100324	Scleroderma	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0100324	HP:0100324	Scleroderma	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0100324	HP:0100324	Scleroderma	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0100324	HP:0100324	Scleroderma	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0100324	HP:0100324	Scleroderma	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0100324	HP:0100324	Scleroderma	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0100324	HP:0100324	Scleroderma	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0100324	HP:0100324	Scleroderma	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0100324	HP:0100324	Scleroderma	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0100324	HP:0550003	Proximal scleroderma	1	CL E G H

Genes (13) :CLCNKB HFE IGHG2 IGKC LBR LEMD3 LMNA POLD1 SLC12A3 SLC29A3 UROD UROS WRN

Diseases (12) :ORPHA:358 OMIM:176100 ORPHA:183675 OMIM:613471 ORPHA:1306 ORPHA:166119 ORPHA:363618 OMIM:619793 OMIM:615381 ORPHA:168569 OMIM:263700 OMIM:277700

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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