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:
Cerebral atrophy (HP:0002059)

Parent Node:
Cerebral cortical atrophy (HP:0002120)

..Starting node
..Occipital cortical atrophy (HP:0012105)

Term ID:

12105

Name:

Occipital cortical atrophy

Synonym:

Definition:

Atrophy of the occipital cortex.

Comments:

Reference:

HP:0012105

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral cortical hemiatrophy (HP:0100308)

Frontal cortical atrophy (HP:0006913)

Parietal cortical atrophy (HP:0012104)

Temporal cortical atrophy (HP:0007112)

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:0012105	HP:0012105	Occipital cortical atrophy	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0012105	HP:0012105	Occipital cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0012105	HP:0012105	Occipital cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0012105	HP:0012105	Occipital cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0012105	HP:0012105	Occipital cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012105	HP:0012105	Occipital cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012105	HP:0012105	Occipital cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012105	HP:0012105	Occipital cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0012105	HP:0012105	Occipital cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0012105	HP:0012105	Occipital cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0012105	HP:0012105	Occipital cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0012105	HP:0012105	Occipital cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0012105	HP:0012105	Occipital cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37

Genes (5) :DOCK7 MAGEL2 NDN OCA2 SNRPN

Diseases (4) :ORPHA:411986 ORPHA:98754 ORPHA:177901 ORPHA:177904

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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