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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal conjunctiva morphology (HP:0000502)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Conjunctival amyloidosis (HP:0010637)

Term ID:

10637

Name:

Conjunctival amyloidosis

Synonym:

Definition:

A form of amyloidosis that affects the conjunctiva.

Comments:

Reference:

HP:0010637

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyloidosis of peripheral nerves (HP:0100292)

Cardiac amyloidosis (HP:0030843)

Cerebral amyloid angiopathy (HP:0011970)

Cutaneous amyloidosis (HP:0012309)

Generalized amyloid deposition (HP:0003216)

Hepatic amyloidosis (HP:0012280)

Renal amyloidosis (HP:0001917)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010637	HP:0010637	Conjunctival amyloidosis	0	CL E G H

Genes (0) :

Diseases (0) :

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