Human Phenotype Ontology

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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Cutaneous amyloidosis (HP:0012309)

Term ID:

12309

Name:

Cutaneous amyloidosis

Synonym:

Definition:

The presence of amyloid deposition in the superficial dermis.

Comments:

Reference:

HP:0012309

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyloidosis of peripheral nerves (HP:0100292)

Cardiac amyloidosis (HP:0030843)

Cerebral amyloid angiopathy (HP:0011970)

Conjunctival amyloidosis (HP:0010637)

Generalized amyloid deposition (HP:0003216)

Hepatic amyloidosis (HP:0012280)

Renal amyloidosis (HP:0001917)

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:0012309	HP:0012309	Cutaneous amyloidosis	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0012309	HP:0012309	Cutaneous amyloidosis	0	IL31RA CL E G H	133396	18969	OMIM:613955	Amyloidosis, primary localized cutaneous, 2	.	1
HP:0012309	HP:0012309	Cutaneous amyloidosis	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0012309	HP:0012309	Cutaneous amyloidosis	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0012309	HP:0012309	Cutaneous amyloidosis	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0012309	HP:0032348	Cutaneous nodular amyloidosis	1	CL E G H
HP:0012309	HP:0032347	Cutaneous macular amyloidosis	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0012309	HP:0032346	Cutaneous lichen amyloidosis	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572

Genes (5) :B2M IL31RA NLRP1 POLA1 RET

Diseases (5) :ORPHA:314652 OMIM:613955 OMIM:615225 OMIM:301220 OMIM:171400

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