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:
Localized skin lesion (HP:0011355)

Parent Node:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Nevus (HP:0003764)

..Starting node
..Connective tissue nevi (HP:0100898)

Term ID:

100898

Name:

Connective tissue nevi

Synonym:

Definition:

Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.

Comments:

Reference:

HP:0100898

Genes and Diseases:

Child Nodes:

........

Shagreen patch (HP:0009721)

Sister Nodes:

Atypical nevi in non-sun exposed areas (HP:0001074)

Atypical nevus (HP:0001062)

Blue nevus (HP:0100814)

Congenital panfollicular nevus (HP:0025471)

Epidermal nevus (HP:0010816)

Melanocytic nevus (HP:0000995)

Nevus flammeus (HP:0001052)

Nevus of Ota (HP:0009920)

Nevus sebaceus (HP:0025511)

Nevus spilus (HP:0025510)

Numerous nevi (HP:0001054)

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:0100898	HP:0100898	Connective tissue nevi	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100898	HP:0100898	Connective tissue nevi	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100898	HP:0100898	Connective tissue nevi	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0100898	HP:0100898	Connective tissue nevi	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate	68
HP:0100898	HP:0100898	Connective tissue nevi	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0100898	HP:0100898	Connective tissue nevi	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100898	HP:0100898	Connective tissue nevi	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100898	HP:0009721	Shagreen patch	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0100898	HP:0009721	Shagreen patch	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100898	HP:0009721	Shagreen patch	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0100898	HP:0009721	Shagreen patch	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0100898	HP:0009721	Shagreen patch	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0100898	HP:0009721	Shagreen patch	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0100898	HP:0009721	Shagreen patch	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100898	HP:0009721	Shagreen patch	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0100898	HP:0009721	Shagreen patch	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0100898	HP:0009721	Shagreen patch	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (6) :IFNG LEMD3 PTEN SLC25A24 TSC1 TSC2

Diseases (8) :ORPHA:805 OMIM:613254 OMIM:166700 ORPHA:1306 ORPHA:2969 ORPHA:2963 ORPHA:538 OMIM:191100

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen