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 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 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 cerebrospinal fluid (HP:0002921)

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002511	HP:0002511	Alzheimer disease	0	APOE CL E G H	348	104310	Alzheimer disease 2	104310	C1863051	OMIM	1	166	613	107741
HP:0002511	HP:0002511	Alzheimer disease	0	APOE CL E G H	348	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	166	613	107741
HP:0002511	HP:0002511	Alzheimer disease	0	APP CL E G H	351	104300	Alzheimer's disease	104300	C0002395	OMIM	1	506	620	104760
HP:0002511	HP:0002511	Alzheimer disease	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0002511	HP:0002511	Alzheimer disease	0	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	501	9508	104311
HP:0002511	HP:0002511	Alzheimer disease	0	PSEN2 CL E G H	5664	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	279	9509	600759
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002511	HP:0002511	Alzheimer disease	0	CACNA1G CL E G H	8913	458803				ORPHA	0	822	1394	604065

Genes (6) :APOE APP CACNA1G GATA1 PSEN1 PSEN2

Diseases (6) :104310 606889 104300 458803 190685 607822

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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