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:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Parent Node:
Cerebral atrophy (HP:0002059)

..Starting node
..Cerebral cortical atrophy (HP:0002120)

Term ID:

2120

Name:

Cerebral cortical atrophy

Synonym:

Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells

Definition:

Atrophy of the cortex of the cerebrum.

Comments:

Reference:

HP:0002120

Genes and Diseases:

Child Nodes:

........

Frontal cortical atrophy (HP:0006913)

........

Temporal cortical atrophy (HP:0007112)

........

Parietal cortical atrophy (HP:0012104)

........

Occipital cortical atrophy (HP:0012105)

........

Cerebral cortical hemiatrophy (HP:0100308)

Sister Nodes:

Diffuse cerebral atrophy (HP:0002506)

Frontotemporal cerebral atrophy (HP:0006892)

Generalized cerebral atrophy/hypoplasia (HP:0007058)

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:0002120	HP:0002120	Cerebral cortical atrophy	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent	13
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent	118
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	636
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	HP:0040283 - Occasional	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	15
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040284 - Very rare	16
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040282 - Frequent	45
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare	45
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11		49
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	HP:0040284 - Very rare	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent	17
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EMX2 CL E G H	2018	3341	OMIM:269160	SCHIZENCEPHALY		7
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	33
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional	30
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040282 - Frequent	30
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	HP:0040284 - Very rare	108
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	HP:0040283 - Occasional	16
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent	150
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	516
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent	96
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent	52
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OCLN CL E G H	100506658	8104	ORPHA:1229	Congenital intrauterine infection-like syndrome	HP:0040282 - Frequent	23
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional	4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	231
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	352
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional	90
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional	135
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040283 - Occasional	92
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional	65
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0002120	HP:0002120	Cerebral 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:0002120	HP:0002120	Cerebral cortical atrophy	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SHH CL E G H	6469	10848	OMIM:269160	SCHIZENCEPHALY		67
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SIX3 CL E G H	6496	10889	OMIM:269160	SCHIZENCEPHALY		32
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent	55
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent	11
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional	171
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5		416
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040281 - Very frequent	16
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	31
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional	3
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	HP:0040283 - Occasional	102
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	22
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	173
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	78
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0002120	HP:0002120	Cerebral 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:0002120	HP:0002120	Cerebral cortical atrophy	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.	8
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	14
HP:0002120	HP:0002120	Cerebral cortical atrophy	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0002120	HP:0007112	Temporal cortical atrophy	1	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to		3
HP:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0002120	HP:0007112	Temporal cortical atrophy	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0002120	HP:0007112	Temporal cortical atrophy	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002120	HP:0007112	Temporal cortical atrophy	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0002120	HP:0007112	Temporal cortical atrophy	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002120	HP:0007112	Temporal cortical atrophy	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0002120	HP:0007112	Temporal cortical atrophy	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0002120	HP:0007112	Temporal cortical atrophy	1	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11		49
HP:0002120	HP:0006913	Frontal cortical atrophy	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0002120	HP:0007112	Temporal cortical atrophy	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0002120	HP:0006913	Frontal cortical atrophy	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0002120	HP:0007112	Temporal cortical atrophy	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0002120	HP:0006913	Frontal cortical atrophy	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0002120	HP:0007112	Temporal cortical atrophy	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002120	HP:0007112	Temporal cortical atrophy	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0002120	HP:0006913	Frontal cortical atrophy	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0007112	Temporal cortical atrophy	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0002120	HP:0006913	Frontal cortical atrophy	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0002120	HP:0012104	Parietal cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002120	HP:0012105	Occipital cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002120	HP:0012105	Occipital cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002120	HP:0012104	Parietal cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002120	HP:0012105	Occipital cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0002120	HP:0012104	Parietal cortical atrophy	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0002120	HP:0007112	Temporal cortical atrophy	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0006913	Frontal cortical atrophy	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002120	HP:0007112	Temporal cortical atrophy	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002120	HP:0006913	Frontal cortical atrophy	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0002120	HP:0007112	Temporal cortical atrophy	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002120	HP:0006913	Frontal cortical atrophy	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0002120	HP:0007112	Temporal cortical atrophy	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0002120	HP:0007112	Temporal cortical atrophy	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002120	HP:0012104	Parietal cortical atrophy	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0002120	HP:0006913	Frontal cortical atrophy	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002120	HP:0012104	Parietal cortical atrophy	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012104	Parietal cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	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:0002120	HP:0012105	Occipital cortical atrophy	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0002120	HP:0012104	Parietal cortical atrophy	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0002120	HP:0006913	Frontal cortical atrophy	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0002120	HP:0012104	Parietal cortical atrophy	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002120	HP:0100308	Cerebral cortical hemiatrophy	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0002120	HP:0007112	Temporal cortical atrophy	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0002120	HP:0012104	Parietal cortical atrophy	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002120	HP:0007112	Temporal cortical atrophy	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0002120	HP:0007112	Temporal cortical atrophy	1	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:0002120	HP:0006913	Frontal cortical atrophy	1	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:0002120	HP:0007112	Temporal cortical atrophy	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63
HP:0002120	HP:0006913	Frontal cortical atrophy	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002120	HP:0410170	Hippocampal atrophy	2	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0002120	HP:0410170	Hippocampal atrophy	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002120	HP:0410170	Hippocampal atrophy	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0002120	HP:0410170	Hippocampal atrophy	2	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11		49
HP:0002120	HP:0410170	Hippocampal atrophy	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0002120	HP:0410170	Hippocampal atrophy	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.	101
HP:0002120	HP:0410170	Hippocampal atrophy	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15

Genes (318) :ABCA7 ACD ACO2 ACTB ACTG1 ADARB1 ADGRV1 AGTPBP1 ALDH18A1 ALG8 ALS2 AMPD2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APOE APP ARX ATP13A2 ATP6 ATRX ATXN2 B3GLCT B4GALNT1 BAZ1B BCAP31 BCL7B BICD2 BICRA BMP4 BRAF BRD4 BUD23 C9ORF72 CACNA1E CAMTA1 CARS1 CARS2 CASK CASZ1 CDC42 CDH23 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN5 CLP1 CNKSR2 COG1 COX1 COX2 COX3 CPA6 CPLX1 CTDP1 CWC27 CYB5A CYB5R3 DDB2 DGUOK DKC1 DNAJC13 DNAJC30 DOCK7 DPAGT1 DYRK1A EHMT1 EIF4G1 EIF4H ELN ELOVL4 EMX2 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ESPN EXOC7 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FARS2 FBLN1 FGFR1 FKBP6 FKRP FMR1 FRMPD4 GABRA5 GABRD GBA1 GBA2 GIGYF2 GLYCTK GMPPB GNAQ GNPTAB GON7 GPKOW GRIA3 GRIA4 GRIN1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HDAC8 HERC1 HEXB HIC1 HIVEP2 HNF1B HRAS HSD17B10 HSPG2 IARS2 IKBKG JPH3 KCNAB2 KCNT1 KDM6A KIF1A KMT2D KRAS LARGE1 LIMK1 LIPT2 LRRK2 LUZP1 MAF MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPT MARS2 MBTPS2 MDH2 MECP2 MEF2C METTL27 MINPP1 MLXIPL MMACHC MMADHC MMP23B MPLKIP MUC1 MVK MYO5A MYO7A NCF1 ND1 ND4 ND5 ND6 NDE1 NDN NDP NDUFA8 NEK1 NEXMIF NIPBL NOVA2 NUS1 OCA2 OCLN OPHN1 OTUD6B PAFAH1B1 PARN PARS2 PCDH15 PCDHGC4 PDE6D PDPN PDZD7 PEX1 PEX7 PGAP1 PHACTR1 PIGA PIGL PIGN PIGS PIGV PLAA PLK4 POGZ POLG2 POLR3A POLR3B POMT1 POMT2 POU4F1 PPFIBP1 PPP2R2B PRDM16 PRDX1 PRKCZ PRNP PRUNE1 PSEN1 PSEN2 PUS3 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RARS2 RERE RFC2 RFT1 RHOBTB2 RMND1 RNF113A RNF125 RNU4ATAC RPS6KA3 RTEL1 SACS SCYL2 SETBP1 SHH SHQ1 SIX3 SKI SLC25A15 SLC25A46 SLC35C1 SLC39A4 SLC39A8 SLC9A6 SMC1A SMC3 SNCA SNRPN SNX14 SORL1 SPATA5 SPEN SPG11 SPG7 SPTAN1 SQSTM1 STUB1 STX1A TARS1 TBC1D20 TBCD TBK1 TBL2 TCTN3 TERT TINF2 TMCO1 TMEM106B TMEM147 TMEM270 TMEM70 TOMM40 TRAK1 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TRIM8 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRRAP TSEN15 TSEN54 TUBGCP4 TUBGCP6 TWNK TYROBP UBE3A UBE4B UBTF UGP2 USH1C USH1G USH2A VARS1 VCP VPS13A VPS13C VPS35 VPS37D VRK1 WFS1 WHRN XPA XPC YWHAE ZNHIT3

Diseases (231) :OMIM:608907 ORPHA:1020 ORPHA:3322 OMIM:614559 ORPHA:2995 OMIM:618862 ORPHA:231178 ORPHA:2254 ORPHA:447760 OMIM:616586 ORPHA:79325 OMIM:606353 OMIM:615809 ORPHA:1568 ORPHA:280763 OMIM:613744 OMIM:607822 ORPHA:2508 ORPHA:513436 ORPHA:306674 OMIM:617225 ORPHA:644 ORPHA:847 ORPHA:98756 ORPHA:709 ORPHA:101006 OMIM:609195 ORPHA:904 ORPHA:369939 OMIM:618291 OMIM:619325 OMIM:607932 ORPHA:1340 OMIM:115150 ORPHA:199 ORPHA:100070 OMIM:618285 OMIM:614756 ORPHA:314647 ORPHA:33364 OMIM:616672 ORPHA:163937 ORPHA:1606 OMIM:616737 ORPHA:231169 OMIM:615911 OMIM:600795 ORPHA:3463 ORPHA:420492 ORPHA:485350 OMIM:300114 ORPHA:228360 OMIM:615803 OMIM:301008 ORPHA:263508 ORPHA:550 OMIM:614418 OMIM:617976 ORPHA:48431 ORPHA:166035 ORPHA:621 ORPHA:910 OMIM:617070 ORPHA:411602 ORPHA:411986 ORPHA:86309 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:96147 OMIM:133190 OMIM:269160 ORPHA:1493 ORPHA:1466 OMIM:619072 OMIM:619576 OMIM:616081 OMIM:618065 ORPHA:171629 OMIM:614946 ORPHA:404451 ORPHA:2396 ORPHA:370968 ORPHA:908 ORPHA:93256 OMIM:300983 OMIM:618559 ORPHA:320391 OMIM:220120 ORPHA:3205 OMIM:185300 OMIM:252500 OMIM:619603 ORPHA:2570 OMIM:300699 OMIM:617864 OMIM:617820 OMIM:618922 OMIM:607485 OMIM:617065 OMIM:619720 OMIM:617011 ORPHA:457359 ORPHA:309155 ORPHA:531 OMIM:616977 OMIM:137920 ORPHA:3071 OMIM:300438 OMIM:616007 ORPHA:464 ORPHA:98934 OMIM:614959 ORPHA:2322 ORPHA:2836 OMIM:617668 ORPHA:1272 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:248500 ORPHA:309288 ORPHA:309282 ORPHA:314603 OMIM:611390 ORPHA:2273 OMIM:617339 OMIM:312750 ORPHA:228384 OMIM:619527 OMIM:277400 OMIM:277410 OMIM:234050 OMIM:174000 ORPHA:29 ORPHA:33445 ORPHA:2177 ORPHA:649 OMIM:619272 OMIM:617892 ORPHA:85277 OMIM:618859 OMIM:617082 ORPHA:1229 ORPHA:137831 ORPHA:505237 OMIM:618437 OMIM:619880 OMIM:615665 OMIM:214100 OMIM:215100 ORPHA:401820 OMIM:618298 OMIM:300868 OMIM:301072 ORPHA:3474 ORPHA:2059 OMIM:618143 OMIM:239300 OMIM:617527 ORPHA:2518 ORPHA:468678 OMIM:619425 OMIM:607694 ORPHA:447896 OMIM:613156 ORPHA:206559 OMIM:620024 OMIM:604326 ORPHA:157941 OMIM:617481 ORPHA:488627 OMIM:616420 ORPHA:2510 OMIM:614222 ORPHA:1387 ORPHA:401830 OMIM:611523 ORPHA:244310 OMIM:618004 OMIM:614922 OMIM:616260 ORPHA:353298 ORPHA:192 ORPHA:98 OMIM:618766 ORPHA:798 OMIM:619922 ORPHA:415 OMIM:238970 OMIM:266265 ORPHA:37 ORPHA:468699 ORPHA:85278 OMIM:105830 ORPHA:177907 OMIM:616354 ORPHA:457351 ORPHA:2822 OMIM:604360 OMIM:607259 ORPHA:99013 OMIM:613477 OMIM:616437 ORPHA:412057 OMIM:615663 ORPHA:496641 OMIM:616439 ORPHA:2753 ORPHA:1394 OMIM:620075 ORPHA:1194 OMIM:618201 ORPHA:500144 OMIM:617669 OMIM:617862 ORPHA:352530 ORPHA:2770 OMIM:618193 OMIM:619428 OMIM:618454 OMIM:617026 OMIM:277470 OMIM:271245 OMIM:617672 OMIM:618744 OMIM:617802 OMIM:167320 ORPHA:2388 OMIM:616840 OMIM:607596

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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