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
..Frontal cortical atrophy (HP:0006913)

Term ID:

6913

Name:

Frontal cortical atrophy

Synonym:

Frontal cortex degeneration

Definition:

Atrophy of the frontal cortex.

Comments:

Reference:

HP:0006913

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral cortical hemiatrophy (HP:0100308)

Occipital cortical atrophy (HP:0012105)

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:0006913	HP:0006913	Frontal cortical atrophy	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0006913	HP:0006913	Frontal cortical atrophy	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0006913	HP:0006913	Frontal cortical atrophy	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0006913	HP:0006913	Frontal cortical atrophy	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0006913	HP:0006913	Frontal cortical atrophy	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0006913	HP:0006913	Frontal cortical atrophy	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0006913	HP:0006913	Frontal cortical atrophy	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0006913	HP:0006913	Frontal cortical atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0006913	HP:0006913	Frontal cortical atrophy	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0006913	HP:0006913	Frontal cortical atrophy	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0006913	HP:0006913	Frontal cortical atrophy	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0006913	HP:0006913	Frontal cortical atrophy	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (12) :CYB5A CYB5R3 GRIA3 HIVEP2 MEF2C OPHN1 PARS2 POMT2 SCYL2 SPG11 VCP VPS13A

Diseases (11) :ORPHA:621 OMIM:300699 OMIM:616977 ORPHA:228384 ORPHA:137831 OMIM:618437 ORPHA:206559 OMIM:618766 ORPHA:2822 OMIM:167320 ORPHA:2388

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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