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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Angiokeratoma (HP:0001014)

..Starting node
..Angiokeratoma corporis diffusum (HP:0001071)

Term ID:

1071

Name:

Angiokeratoma corporis diffusum

Synonym:

Fabry syndrome

Definition:

Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.

Comments:

Reference:

HP:0001071

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001071	HP:0001071	Angiokeratoma corporis diffusum	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001071	HP:0001071	Angiokeratoma corporis diffusum	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0001071	HP:0001071	Angiokeratoma corporis diffusum	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0001071	HP:0001071	Angiokeratoma corporis diffusum	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0001071	HP:0001071	Angiokeratoma corporis diffusum	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47

Genes (4) :AGA GLA GLB1 NAGA

Diseases (5) :OMIM:208400 OMIM:301500 OMIM:230500 ORPHA:79280 OMIM:609242

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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