Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Cognitive impairment (HP:0100543)

..Starting node
..Memory impairment (HP:0002354)

Term ID:

2354

Name:

Memory impairment

Synonym:

Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory

Definition:

An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.

Comments:

Reference:

HP:0002354

Genes and Diseases:

Child Nodes:

........

Deficit in phonologic short-term memory (HP:0002549)

........

Progressive forgetfulness (HP:0007017)

........

Transient global amnesia (HP:0010534)

Sister Nodes:

Bradyphrenia (HP:0031843)

Mental deterioration (HP:0001268)

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:0002354	HP:0002354	Memory impairment	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0002354	HP:0002354	Memory impairment	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002354	HP:0002354	Memory impairment	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0002354	HP:0002354	Memory impairment	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0002354	HP:0002354	Memory impairment	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0002354	HP:0002354	Memory impairment	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0002354	HP:0002354	Memory impairment	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040284 - Very rare	86
HP:0002354	HP:0002354	Memory impairment	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0002354	HP:0002354	Memory impairment	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0002354	HP:0002354	Memory impairment	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002354	HP:0002354	Memory impairment	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0002354	HP:0002354	Memory impairment	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0002354	HP:0002354	Memory impairment	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent	74
HP:0002354	HP:0002354	Memory impairment	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0002354	HP:0002354	Memory impairment	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0002354	HP:0002354	Memory impairment	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0002354	HP:0002354	Memory impairment	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040283 - Occasional	16
HP:0002354	HP:0002354	Memory impairment	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002354	HP:0002354	Memory impairment	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0002354	HP:0002354	Memory impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0002354	HP:0002354	Memory impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0002354	HP:0002354	Memory impairment	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0002354	HP:0002354	Memory impairment	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0002354	HP:0002354	Memory impairment	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0002354	HP:0002354	Memory impairment	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002354	HP:0002354	Memory impairment	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002354	HP:0002354	Memory impairment	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0002354	HP:0002354	Memory impairment	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040282 - Frequent	56
HP:0002354	HP:0002354	Memory impairment	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0002354	HP:0002354	Memory impairment	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0002354	HP:0002354	Memory impairment	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002354	HP:0002354	Memory impairment	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0002354	HP:0002354	Memory impairment	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002354	HP:0002354	Memory impairment	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0002354	HP:0002354	Memory impairment	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0002354	HP:0002354	Memory impairment	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0002354	HP:0002354	Memory impairment	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0002354	HP:0002354	Memory impairment	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1		1
HP:0002354	HP:0002354	Memory impairment	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0002354	HP:0002354	Memory impairment	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0002354	HP:0002354	Memory impairment	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0002354	HP:0002354	Memory impairment	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0002354	HP:0002354	Memory impairment	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.	14
HP:0002354	HP:0002354	Memory impairment	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0002354	HP:0002354	Memory impairment	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0002354	HP:0002354	Memory impairment	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0002354	HP:0002354	Memory impairment	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0002354	HP:0002354	Memory impairment	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0002354	HP:0002354	Memory impairment	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0002354	HP:0002354	Memory impairment	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002354	HP:0002354	Memory impairment	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0002354	HP:0002354	Memory impairment	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0002354	HP:0002354	Memory impairment	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002354	HP:0002354	Memory impairment	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent	47
HP:0002354	HP:0002354	Memory impairment	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002354	HP:0002354	Memory impairment	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0002354	HP:0002354	Memory impairment	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0002354	HP:0002354	Memory impairment	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002354	HP:0002354	Memory impairment	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0002354	HP:0002354	Memory impairment	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0002354	HP:0002354	Memory impairment	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0002354	HP:0002354	Memory impairment	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002354	HP:0002354	Memory impairment	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0002354	HP:0002354	Memory impairment	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0002354	HP:0002354	Memory impairment	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1		1
HP:0002354	HP:0002354	Memory impairment	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002354	HP:0002354	Memory impairment	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0002354	HP:0002354	Memory impairment	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0002354	HP:0002354	Memory impairment	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1		2
HP:0002354	HP:0002354	Memory impairment	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002354	HP:0002354	Memory impairment	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0002354	HP:0002354	Memory impairment	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002354	HP:0002354	Memory impairment	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002354	HP:0002354	Memory impairment	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002354	HP:0002354	Memory impairment	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0002354	HP:0002354	Memory impairment	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional	140
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome		140
HP:0002354	HP:0002354	Memory impairment	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002354	HP:0002354	Memory impairment	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002354	HP:0002354	Memory impairment	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0002354	HP:0002354	Memory impairment	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0002354	HP:0002354	Memory impairment	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0002354	HP:0002354	Memory impairment	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0002354	HP:0002354	Memory impairment	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1		1
HP:0002354	HP:0002354	Memory impairment	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0002354	HP:0002354	Memory impairment	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0002354	HP:0002354	Memory impairment	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002354	HP:0002354	Memory impairment	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0002354	HP:0002354	Memory impairment	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0002354	HP:0002354	Memory impairment	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0002354	HP:0002354	Memory impairment	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0002354	HP:0002354	Memory impairment	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0002354	HP:0002354	Memory impairment	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0002354	HP:0002354	Memory impairment	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002354	HP:0002354	Memory impairment	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0002354	HP:0002354	Memory impairment	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002354	HP:0002354	Memory impairment	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1		2
HP:0002354	HP:0002354	Memory impairment	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent	641
HP:0002354	HP:0002354	Memory impairment	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0002354	HP:0002354	Memory impairment	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0002354	HP:0002354	Memory impairment	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0002354	HP:0002354	Memory impairment	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0002354	HP:0002354	Memory impairment	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0002354	HP:0002354	Memory impairment	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002354	HP:0002354	Memory impairment	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0002354	HP:0002354	Memory impairment	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0002354	HP:0002354	Memory impairment	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0002354	HP:0002354	Memory impairment	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0002354	HP:0002354	Memory impairment	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	464
HP:0002354	HP:0002354	Memory impairment	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0002354	HP:0002354	Memory impairment	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0002354	HP:0002354	Memory impairment	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent	2
HP:0002354	HP:0002354	Memory impairment	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0002354	HP:0002354	Memory impairment	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0002354	HP:0002354	Memory impairment	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease		69
HP:0002354	HP:0002354	Memory impairment	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0002354	HP:0002354	Memory impairment	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002354	HP:0002354	Memory impairment	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0002354	HP:0002354	Memory impairment	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002354	HP:0002354	Memory impairment	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0002354	HP:0002354	Memory impairment	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0002354	HP:0002354	Memory impairment	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0002354	HP:0002354	Memory impairment	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0002354	HP:0002354	Memory impairment	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0002354	HP:0002354	Memory impairment	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0002354	HP:0002354	Memory impairment	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0002354	HP:0002354	Memory impairment	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional	3
HP:0002354	HP:0002354	Memory impairment	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0002354	HP:0002354	Memory impairment	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0002354	HP:0002354	Memory impairment	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0002354	HP:0002354	Memory impairment	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0002354	HP:0002354	Memory impairment	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040282 - Frequent	40
HP:0002354	HP:0002354	Memory impairment	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0002354	HP:0002354	Memory impairment	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0002354	HP:0002354	Memory impairment	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0002354	HP:0002354	Memory impairment	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0002354	HP:0002354	Memory impairment	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0002354	HP:0002354	Memory impairment	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0002354	HP:0002354	Memory impairment	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002354	HP:0002354	Memory impairment	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002354	HP:0002354	Memory impairment	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0002354	HP:0002354	Memory impairment	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002354	HP:0002354	Memory impairment	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare	171
HP:0002354	HP:0002354	Memory impairment	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0002354	HP:0002354	Memory impairment	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002354	HP:0002354	Memory impairment	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002354	HP:0002354	Memory impairment	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0002354	HP:0002354	Memory impairment	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0002354	HP:0002354	Memory impairment	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0002354	HP:0002354	Memory impairment	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0002354	HP:0002354	Memory impairment	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002354	HP:0002354	Memory impairment	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0002354	HP:0002354	Memory impairment	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0002354	HP:0002354	Memory impairment	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0002354	HP:0002354	Memory impairment	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0002354	HP:0002354	Memory impairment	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002354	HP:0002354	Memory impairment	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0002354	HP:0002354	Memory impairment	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0002354	HP:0002354	Memory impairment	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	31
HP:0002354	HP:0002354	Memory impairment	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002354	HP:0002354	Memory impairment	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0002354	HP:0002354	Memory impairment	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0002354	HP:0002354	Memory impairment	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0002354	HP:0002354	Memory impairment	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002354	HP:0002354	Memory impairment	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0002354	HP:0002354	Memory impairment	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0002354	HP:0002354	Memory impairment	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	113
HP:0002354	HP:0002354	Memory impairment	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	22
HP:0002354	HP:0002354	Memory impairment	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002354	HP:0002354	Memory impairment	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002354	HP:0002354	Memory impairment	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional	73
HP:0002354	HP:0002354	Memory impairment	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002354	HP:0002354	Memory impairment	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002354	HP:0002354	Memory impairment	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0002354	HP:0002354	Memory impairment	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0002354	HP:0002354	Memory impairment	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0002354	HP:0002354	Memory impairment	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0002354	HP:0002354	Memory impairment	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63
HP:0002354	HP:0002354	Memory impairment	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0002354	HP:0002354	Memory impairment	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0002354	HP:0002354	Memory impairment	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1		3
HP:0002354	HP:0033688	Long term memory impairment	1	CL E G H
HP:0002354	HP:0010534	Transient global amnesia	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0002354	HP:0010534	Transient global amnesia	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0002354	HP:0010534	Transient global amnesia	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002354	HP:0033687	Short term memory impairment	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0002354	HP:0010534	Transient global amnesia	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002354	HP:0010534	Transient global amnesia	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0002354	HP:0010534	Transient global amnesia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0002354	HP:0033687	Short term memory impairment	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome		140
HP:0002354	HP:0010534	Transient global amnesia	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0002354	HP:0010534	Transient global amnesia	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002354	HP:0010534	Transient global amnesia	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0002354	HP:0010534	Transient global amnesia	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0002354	HP:0010534	Transient global amnesia	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0002354	HP:0010534	Transient global amnesia	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0002354	HP:0033687	Short term memory impairment	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease		69
HP:0002354	HP:0007017	Progressive forgetfulness	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0002354	HP:0033687	Short term memory impairment	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0002354	HP:0033687	Short term memory impairment	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0002354	HP:0010534	Transient global amnesia	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0002354	HP:0010534	Transient global amnesia	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0002354	HP:0010534	Transient global amnesia	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0002354	HP:0010534	Transient global amnesia	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0002354	HP:0010534	Transient global amnesia	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0002354	HP:0010534	Transient global amnesia	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0002354	HP:0010534	Transient global amnesia	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0002354	HP:0007017	Progressive forgetfulness	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0002354	HP:0033687	Short term memory impairment	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0002354	HP:0010534	Transient global amnesia	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0002354	HP:0010534	Transient global amnesia	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	3
HP:0002354	HP:0033690	Retrograde memory impairment	2	CL E G H
HP:0002354	HP:0033689	Anterograde memory impairment	2	CL E G H
HP:0002354	HP:0002549	Deficit in phonologic short-term memory	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare	53
HP:0002354	HP:0002549	Deficit in phonologic short-term memory	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0002354	HP:0002549	Deficit in phonologic short-term memory	2	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent	69
HP:0002354	HP:0002549	Deficit in phonologic short-term memory	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0002354	HP:0002549	Deficit in phonologic short-term memory	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125
HP:0002354	HP:0033692	Declarative memory loss	3	CL E G H
HP:0002354	HP:0033691	Procedural memory loss	3	CL E G H

Genes (160) :ABCA7 ABCD1 ACSF3 ADA2 AFG3L2 AKT1 ALDH18A1 AMACR APOE APP ARMC5 ARSA ATN1 ATRX ATXN1 ATXN3 BAP1 BMPR1A BRAF C4A C9ORF72 CAMTA1 CCR1 CDH23 CHMP2B CLN3 COX1 COX2 COX3 CP CSF1R CTSH CYLD DNMT1 ECM1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EPCAM ERAP1 FAN1 FAR1 FAS FGF14 FMR1 GNAS GNE GOSR2 GRIN2A GRN GSN HCRT HLA-B HLA-DQB1 HLA-DRB1 HMBS HTT IFNGR1 IL10 IL12A IL12A-AS1 IL23R JPH3 KLRC4 KRAS MAPT MEFV MEN1 MLH1 MLH3 MMACHC MOG MSH2 MSH6 MYD88 MYORG ND1 ND4 ND5 ND6 NF1 NF2 NIPA1 NIPA2 NOTCH3 NR3C1 P2RY11 PAH PDE11A PDE8B PDGFB PDGFRB PIDD1 PIK3CA PMS1 PMS2 POLG POU4F1 PRKACA PRKAR1A PRKAR1B PRKCG PRNP PRORP PSAP PSEN1 PSEN2 REEP2 RNASEH1 RPS20 RRM2B SEMA4A SIM1 SLC20A2 SLC25A13 SLC2A3 SMARCB1 SMARCE1 SMO SORL1 SPAST SPG11 SPG7 SQSTM1 STAT4 STUB1 SUFU TERT TGFBR2 TIA1 TLR4 TMEM106B TNFSF4 TOMM40 TP53 TRAF7 TREM2 TREX1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTPA TUBG1 TWNK TYROBP UBAC2 UGT1A1 USP48 USP8 VAMP1 VCP XPR1 YY1 ZNF365

Diseases (98) :OMIM:608907 ORPHA:1020 ORPHA:139399 ORPHA:139396 ORPHA:289504 ORPHA:820 ORPHA:101109 ORPHA:2495 ORPHA:447753 ORPHA:79095 OMIM:607822 OMIM:606889 ORPHA:324708 ORPHA:189427 ORPHA:309271 ORPHA:101 ORPHA:96253 ORPHA:98755 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:440437 ORPHA:117 ORPHA:275864 ORPHA:401901 ORPHA:100070 ORPHA:314647 OMIM:600795 ORPHA:228346 ORPHA:550 ORPHA:48818 OMIM:221820 ORPHA:2073 OMIM:619132 ORPHA:314404 OMIM:604121 OMIM:614116 OMIM:247100 OMIM:603896 ORPHA:144 ORPHA:98764 OMIM:300623 ORPHA:93256 ORPHA:3166 OMIM:614018 ORPHA:98818 OMIM:607485 ORPHA:85448 OMIM:123400 ORPHA:79276 ORPHA:399 ORPHA:98934 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:601104 ORPHA:97279 ORPHA:79282 ORPHA:33226 OMIM:618317 ORPHA:97685 ORPHA:637 ORPHA:261183 OMIM:125310 ORPHA:136 ORPHA:79254 ORPHA:189439 OMIM:213600 OMIM:619827 ORPHA:70595 ORPHA:412066 OMIM:605361 ORPHA:280397 OMIM:137440 ORPHA:157941 ORPHA:282166 OMIM:619737 ORPHA:401849 ORPHA:329336 ORPHA:369873 ORPHA:247585 OMIM:182601 ORPHA:2822 OMIM:607259 ORPHA:99013 ORPHA:412057 OMIM:619133 ORPHA:2770 OMIM:618193 ORPHA:247691 OMIM:192315 OMIM:277460 OMIM:221770 ORPHA:79234 ORPHA:251282 OMIM:108600 ORPHA:435387 OMIM:616413

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen