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:
Abnormal cellular physiology (HP:0011017)

Parent Node:
Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

..Starting node
..Rectilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003226)

Term ID:

3226

Name:

Rectilinear intracellular accumulation of autofluorescent lipopigment storage material

Synonym:

Rectilinear profiles ultrastructurally

Definition:

An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.

Comments:

Reference:

HP:0003226

Genes and Diseases:

Child Nodes:

Sister Nodes:

Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)

Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)

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:0003226	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0003226	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003226	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155

Genes (3) :CLN5 CLN6 DNAJC5

Diseases (3) :OMIM:256731 OMIM:204300 OMIM:162350

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