Human Phenotype Ontology

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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:
Abnormal nervous system morphology (HP:0012639)

Parent Node:
Morphological central nervous system abnormality (HP:0002011)

..Starting node
..Alzheimer disease (HP:0002511)

Term ID:

2511

Name:

Alzheimer disease

Synonym:

Alzheimer disease; Late-onset form of familial Alzheimer disease

Definition:

A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.

Comments:

Reference:

HP:0002511

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebrospinal fluid morphology (HP:0002921)

Abnormal CNS myelination (HP:0011400)

Abnormal glial cell morphology (HP:0100705)

Abnormal meningeal morphology (HP:0010651)

Abnormal neural tube morphology (HP:0410043)

Abnormal subarachnoid space morphology (HP:0012703)

Abnormality of brain morphology (HP:0012443)

Abnormality of neuronal migration (HP:0002269)

Abnormality of the spinal cord (HP:0002143)

Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Central nervous system cyst (HP:0030724)

Encephalocele (HP:0002084)

Morphological abnormality of the pyramidal tract (HP:0002062)

Neoplasm of the central nervous system (HP:0100006)

Unusual CNS infection (HP:0011450)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002511	HP:0002511	Alzheimer disease	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.		3
HP:0002511	HP:0002511	Alzheimer disease	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.		39
HP:0002511	HP:0002511	Alzheimer disease	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	HP:0003593 - Infantile onset	39
HP:0002511	HP:0002511	Alzheimer disease	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4	.		39
HP:0002511	HP:0002511	Alzheimer disease	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.		74
HP:0002511	HP:0002511	Alzheimer disease	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0002511	HP:0002511	Alzheimer disease	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0002511	HP:0002511	Alzheimer disease	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.		38
HP:0002511	HP:0002511	Alzheimer disease	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.		11
HP:0002511	HP:0002511	Alzheimer disease	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.		8
HP:0002511	HP:0002511	Alzheimer disease	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.		50
HP:0002511	HP:0002511	Alzheimer disease	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	HP:0003593 - Infantile onset	241
HP:0002511	HP:0002511	Alzheimer disease	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4	.		59

Genes (11) :ABCA7 APOE APP CACNA1G GATA1 HFE MPO NOS3 PLAU PSEN1 PSEN2

Diseases (7) :OMIM:608907 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:104300 ORPHA:458803 OMIM:190685

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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