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:
Aplasia/Hypoplasia of the skin (HP:0008065)

Parent Node:
Dermal atrophy (HP:0004334)

..Starting node
..Diffuse skin atrophy (HP:0007488)

Term ID:

7488

Name:

Diffuse skin atrophy

Synonym:

Definition:

Comments:

Reference:

HP:0007488

Genes and Diseases:

Child Nodes:

........

Diffuse slow skin atrophy (HP:0007504)

Sister Nodes:

Atrophic scars (HP:0001075)

Striae distensae (HP:0001065)

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:0007488	HP:0007488	Diffuse skin atrophy	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0007488	HP:0007488	Diffuse skin atrophy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0007488	HP:0007488	Diffuse skin atrophy	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0007488	HP:0007504	Diffuse slow skin atrophy	1	CL E G H

Genes (3) :FERMT1 GSN LEMD3

Diseases (3) :OMIM:173650 ORPHA:85448 ORPHA:1306

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