Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Parent Node:
Abnormality of neuronal migration (HP:0002269)

..Starting node
..Gray matter heterotopia (HP:0002282)

Term ID:

2282

Name:

Gray matter heterotopia

Synonym:

Gray matter heterotopias; Grey matter heterotopia; Grey matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia

Definition:

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.

Comments:

Reference:

HP:0002282

Genes and Diseases:

Child Nodes:

........

Gray matter heterotopias (HP:0002281)

................... HP:0007165 Periventricular gray matter heterotopia

........

White matter neuronal heterotopia (HP:0007314)

Sister Nodes:

Abnormal cortical gyration (HP:0002536)

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:0002282	HP:0002282	Gray matter heterotopia	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0002282	HP:0002282	Gray matter heterotopia	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0002282	HP:0002282	Gray matter heterotopia	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0002282	HP:0002282	Gray matter heterotopia	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0002282	HP:0002282	Gray matter heterotopia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0002282	HP:0002282	Gray matter heterotopia	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0002282	HP:0002282	Gray matter heterotopia	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0002282	HP:0002282	Gray matter heterotopia	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002282	HP:0002282	Gray matter heterotopia	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0002282	HP:0002282	Gray matter heterotopia	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0002282	HP:0002282	Gray matter heterotopia	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0002282	HP:0002282	Gray matter heterotopia	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia		179
HP:0002282	HP:0002282	Gray matter heterotopia	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002282	HP:0002282	Gray matter heterotopia	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0002282	HP:0002282	Gray matter heterotopia	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002282	HP:0002282	Gray matter heterotopia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0002282	HP:0002282	Gray matter heterotopia	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002282	HP:0002282	Gray matter heterotopia	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002282	HP:0002282	Gray matter heterotopia	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002282	HP:0002282	Gray matter heterotopia	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002282	HP:0002282	Gray matter heterotopia	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0002282	HP:0002282	Gray matter heterotopia	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0002282	HP:0002282	Gray matter heterotopia	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0002282	HP:0002282	Gray matter heterotopia	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0002282	HP:0002282	Gray matter heterotopia	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0002282	HP:0002282	Gray matter heterotopia	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0002282	HP:0002282	Gray matter heterotopia	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0002282	HP:0002282	Gray matter heterotopia	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0002282	HP:0002282	Gray matter heterotopia	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002282	HP:0002282	Gray matter heterotopia	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0002282	HP:0002282	Gray matter heterotopia	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002282	HP:0002282	Gray matter heterotopia	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0002282	HP:0002282	Gray matter heterotopia	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	HP:0040283 - Occasional	12
HP:0002282	HP:0002282	Gray matter heterotopia	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare
HP:0002282	HP:0002282	Gray matter heterotopia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002282	HP:0002282	Gray matter heterotopia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002282	HP:0002282	Gray matter heterotopia	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002282	HP:0002282	Gray matter heterotopia	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0002282	HP:0002282	Gray matter heterotopia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002282	HP:0002282	Gray matter heterotopia	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0002282	HP:0002282	Gray matter heterotopia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002282	HP:0002282	Gray matter heterotopia	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002282	HP:0002282	Gray matter heterotopia	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0002282	HP:0002282	Gray matter heterotopia	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002282	HP:0002282	Gray matter heterotopia	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0002282	HP:0002282	Gray matter heterotopia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002282	HP:0002282	Gray matter heterotopia	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia		36
HP:0002282	HP:0002282	Gray matter heterotopia	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0002282	HP:0002282	Gray matter heterotopia	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0002282	HP:0002282	Gray matter heterotopia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0002282	HP:0002282	Gray matter heterotopia	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0002282	HP:0002282	Gray matter heterotopia	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0002282	HP:0002282	Gray matter heterotopia	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0002282	HP:0002282	Gray matter heterotopia	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	157
HP:0002282	HP:0002282	Gray matter heterotopia	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	184
HP:0002282	HP:0002282	Gray matter heterotopia	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0002282	HP:0002282	Gray matter heterotopia	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0002282	HP:0002282	Gray matter heterotopia	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia		493
HP:0002282	HP:0002282	Gray matter heterotopia	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0002282	HP:0002282	Gray matter heterotopia	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0002282	HP:0002282	Gray matter heterotopia	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002282	HP:0002282	Gray matter heterotopia	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0002282	HP:0002282	Gray matter heterotopia	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0002282	HP:0002282	Gray matter heterotopia	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002282	HP:0002282	Gray matter heterotopia	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002282	HP:0002282	Gray matter heterotopia	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0002282	HP:0002282	Gray matter heterotopia	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0002282	HP:0002282	Gray matter heterotopia	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002282	HP:0002282	Gray matter heterotopia	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002282	HP:0002282	Gray matter heterotopia	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	9
HP:0002282	HP:0002282	Gray matter heterotopia	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0002282	HP:0002282	Gray matter heterotopia	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	112
HP:0002282	HP:0002282	Gray matter heterotopia	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0002282	HP:0002282	Gray matter heterotopia	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent	71
HP:0002282	HP:0002282	Gray matter heterotopia	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0002282	HP:0002282	Gray matter heterotopia	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002282	HP:0002282	Gray matter heterotopia	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0002282	HP:0002282	Gray matter heterotopia	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002282	HP:0002282	Gray matter heterotopia	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0002282	HP:0002282	Gray matter heterotopia	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002282	HP:0002282	Gray matter heterotopia	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0002282	HP:0002282	Gray matter heterotopia	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	155
HP:0002282	HP:0002282	Gray matter heterotopia	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002282	HP:0002282	Gray matter heterotopia	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0002282	HP:0002282	Gray matter heterotopia	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	5
HP:0002282	HP:0002282	Gray matter heterotopia	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0002282	HP:0002282	Gray matter heterotopia	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0002282	HP:0002282	Gray matter heterotopia	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0002282	HP:0002282	Gray matter heterotopia	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0002282	HP:0002282	Gray matter heterotopia	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia		30
HP:0002282	HP:0002282	Gray matter heterotopia	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0002282	HP:0002282	Gray matter heterotopia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002282	HP:0002282	Gray matter heterotopia	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0002282	HP:0002282	Gray matter heterotopia	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0002282	HP:0002282	Gray matter heterotopia	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0002282	HP:0002282	Gray matter heterotopia	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0002282	HP:0002282	Gray matter heterotopia	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	16
HP:0002282	HP:0002282	Gray matter heterotopia	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0002282	HP:0002282	Gray matter heterotopia	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002282	HP:0002282	Gray matter heterotopia	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0002282	HP:0002282	Gray matter heterotopia	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0002282	HP:0002282	Gray matter heterotopia	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0002282	HP:0002282	Gray matter heterotopia	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0002282	HP:0002282	Gray matter heterotopia	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	213
HP:0002282	HP:0002282	Gray matter heterotopia	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0002282	HP:0002282	Gray matter heterotopia	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002282	HP:0002282	Gray matter heterotopia	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002282	HP:0002282	Gray matter heterotopia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002282	HP:0002282	Gray matter heterotopia	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0002282	HP:0002282	Gray matter heterotopia	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	11
HP:0002282	HP:0002282	Gray matter heterotopia	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0002282	HP:0002282	Gray matter heterotopia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0002282	HP:0002282	Gray matter heterotopia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0002282	HP:0002282	Gray matter heterotopia	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	4
HP:0002282	HP:0002282	Gray matter heterotopia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002282	HP:0002282	Gray matter heterotopia	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0002282	HP:0002282	Gray matter heterotopia	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	99
HP:0002282	HP:0002282	Gray matter heterotopia	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	2
HP:0002282	HP:0002282	Gray matter heterotopia	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy		271
HP:0002282	HP:0002282	Gray matter heterotopia	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0002282	HP:0002282	Gray matter heterotopia	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia		5
HP:0002282	HP:0002282	Gray matter heterotopia	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0002282	HP:0002282	Gray matter heterotopia	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0002282	HP:0002282	Gray matter heterotopia	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0002282	HP:0002282	Gray matter heterotopia	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0002282	HP:0002282	Gray matter heterotopia	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0002282	HP:0002282	Gray matter heterotopia	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.	14
HP:0002282	HP:0002282	Gray matter heterotopia	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002282	HP:0002282	Gray matter heterotopia	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0002282	HP:0002282	Gray matter heterotopia	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002282	HP:0002282	Gray matter heterotopia	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	224
HP:0002282	HP:0002282	Gray matter heterotopia	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0002282	HP:0002282	Gray matter heterotopia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002282	HP:0002282	Gray matter heterotopia	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002282	HP:0002282	Gray matter heterotopia	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002282	HP:0002282	Gray matter heterotopia	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0002282	HP:0002282	Gray matter heterotopia	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002282	HP:0007165	Periventricular heterotopia	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0002282	HP:0007165	Periventricular heterotopia	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0002282	HP:0007165	Periventricular heterotopia	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002282	HP:0007165	Periventricular heterotopia	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0002282	HP:0007165	Periventricular heterotopia	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0002282	HP:0007165	Periventricular heterotopia	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0002282	HP:0007165	Periventricular heterotopia	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0002282	HP:0007165	Periventricular heterotopia	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002282	HP:0007165	Periventricular heterotopia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002282	HP:0007165	Periventricular heterotopia	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002282	HP:0032391	Subcortical heterotopia	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0002282	HP:0032391	Subcortical heterotopia	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002282	HP:0007165	Periventricular heterotopia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002282	HP:0007165	Periventricular heterotopia	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0002282	HP:0032391	Subcortical heterotopia	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002282	HP:0007165	Periventricular heterotopia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0002282	HP:0007165	Periventricular heterotopia	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002282	HP:0032391	Subcortical heterotopia	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0002282	HP:0007165	Periventricular heterotopia	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0002282	HP:0007165	Periventricular heterotopia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002282	HP:0007165	Periventricular heterotopia	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002282	HP:0032391	Subcortical heterotopia	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia		3
HP:0002282	HP:0007165	Periventricular heterotopia	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002282	HP:0007165	Periventricular heterotopia	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0002282	HP:0007165	Periventricular heterotopia	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6		36
HP:0002282	HP:0007165	Periventricular heterotopia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0002282	HP:0032391	Subcortical heterotopia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0002282	HP:0007165	Periventricular heterotopia	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0002282	HP:0007165	Periventricular heterotopia	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0002282	HP:0007165	Periventricular heterotopia	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0002282	HP:0007165	Periventricular heterotopia	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002282	HP:0007165	Periventricular heterotopia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0002282	HP:0007165	Periventricular heterotopia	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002282	HP:0007165	Periventricular heterotopia	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002282	HP:0032391	Subcortical heterotopia	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3		15
HP:0002282	HP:0032391	Subcortical heterotopia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0002282	HP:0007165	Periventricular heterotopia	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0002282	HP:0007165	Periventricular heterotopia	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0002282	HP:0007165	Periventricular heterotopia	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002282	HP:0007165	Periventricular heterotopia	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0002282	HP:0007165	Periventricular heterotopia	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7		30
HP:0002282	HP:0007165	Periventricular heterotopia	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002282	HP:0032391	Subcortical heterotopia	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0002282	HP:0007165	Periventricular heterotopia	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0002282	HP:0007165	Periventricular heterotopia	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002282	HP:0007165	Periventricular heterotopia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002282	HP:0007165	Periventricular heterotopia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0002282	HP:0007165	Periventricular heterotopia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002282	HP:0007165	Periventricular heterotopia	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy		271
HP:0002282	HP:0007165	Periventricular heterotopia	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0002282	HP:0032391	Subcortical heterotopia	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0002282	HP:0032391	Subcortical heterotopia	1	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4		14
HP:0002282	HP:0032391	Subcortical heterotopia	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002282	HP:0007165	Periventricular heterotopia	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002282	HP:0007165	Periventricular heterotopia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0002282	HP:0007165	Periventricular heterotopia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0002282	HP:0007165	Periventricular heterotopia	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002282	HP:0007165	Periventricular heterotopia	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0002282	HP:0007165	Periventricular heterotopia	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002282	HP:0032393	Diffuse ribbon-like subcortical heterotopia	2	CL E G H
HP:0002282	HP:0032392	Nodular subcortical heterotopia in peritrigonal regions	2	CL E G H
HP:0002282	HP:0032389	Periventricular laminar heterotopia	2	CL E G H
HP:0002282	HP:0032396	Transmantle columnar heterotopia	2	CL E G H
HP:0002282	HP:0032395	Curvilinear subcortical heterotopia	2	CL E G H
HP:0002282	HP:0032394	Mesial parasagittal subcortical heterotopia	2	CL E G H
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0002282	HP:0032390	Periventricular ribbonlike heterotopia	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0002282	HP:0032409	Subcortical band heterotopia	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002282	HP:0032409	Subcortical band heterotopia	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002282	HP:0032409	Subcortical band heterotopia	2	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0002282	HP:0032409	Subcortical band heterotopia	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002282	HP:0032409	Subcortical band heterotopia	2	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0002282	HP:0032409	Subcortical band heterotopia	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0002282	HP:0032409	Subcortical band heterotopia	2	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0002282	HP:0032409	Subcortical band heterotopia	2	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0002282	HP:0032409	Subcortical band heterotopia	2	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.	14
HP:0002282	HP:0032409	Subcortical band heterotopia	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0002282	HP:0032388	Periventricular nodular heterotopia	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002282	HP:0032413	Diffuse subcortical band heterotopia	3	CL E G H
HP:0002282	HP:0032412	Anterior predominant subcortical band heterotopia	3	CL E G H
HP:0002282	HP:0032411	Posterior predominant subcortical band heterotopia	3	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1

Genes (117) :ADD3 ADGRL1 AKT1 AKT3 ALG11 ANKLE2 ANKRD11 APC2 ARF1 ARFGEF2 ARMC9 ASPM ASXL1 B4GAT1 BLTP1 C2CD3 CDH2 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CEP85L CIT COL4A2 COPB2 CPLANE1 CPLX1 CRB2 CRPPA CSF1R CSGALNACT1 DCHS1 DCX DHCR7 DHX16 EML1 EPG5 ERMARD FAT4 FGFR3 FKRP FKTN FLNA FMR1 GMPPB GPSM2 HNRNPK HYLS1 INTS8 KANSL1 KAT6B KAT8 KATNB1 KIF14 KIF2A KNL1 LAMA1 LAMB1 LMBRD2 MAN1B1 MAN2C1 MAP1B MCM7 MCPH1 MED12 METTL5 MFSD2A MLH1 MPDZ MTOR NCAPD3 NEDD4L NRCAM OFD1 PAFAH1B1 PDHB PEX1 PHC1 PIK3CA PLCH1 PMS2 POMGNT1 POMK POMT1 POMT2 PPFIBP1 PPP1R12A PRORP PTEN PYCR2 RALGAPA1 RNU4ATAC RTTN SASS6 SLC25A24 SPEN STIL TAF13 TBC1D24 TMEM107 TMTC3 TRAPPC10 TRAPPC14 TUBA1A TUBB TUBB2B TUBG1 TUBGCP2 USP18 VPS35L WDR62 ZEB2 ZMIZ1 ZNF292 ZSWIM6

Diseases (94) :OMIM:617008 OMIM:620065 ORPHA:744 ORPHA:99802 ORPHA:280071 ORPHA:2512 ORPHA:261250 OMIM:618677 ORPHA:98892 OMIM:618185 OMIM:608097 OMIM:617622 OMIM:605039 OMIM:615287 OMIM:617822 ORPHA:434179 OMIM:615948 OMIM:618929 OMIM:618873 OMIM:614483 OMIM:277170 ORPHA:352582 OMIM:219730 ORPHA:370980 OMIM:614643 OMIM:618476 OMIM:618870 ORPHA:314679 OMIM:601390 OMIM:300067 OMIM:270400 OMIM:618733 OMIM:600348 OMIM:242840 ORPHA:1493 ORPHA:75857 OMIM:615544 OMIM:615546 ORPHA:1860 OMIM:187600 ORPHA:370959 ORPHA:555877 OMIM:300049 OMIM:300624 OMIM:604213 ORPHA:352665 ORPHA:453504 OMIM:236680 OMIM:618572 OMIM:610443 OMIM:606170 OMIM:618974 OMIM:616212 OMIM:615411 OMIM:615960 ORPHA:352682 OMIM:615191 OMIM:619694 ORPHA:397941 OMIM:619775 OMIM:618918 OMIM:305450 OMIM:276300 OMIM:615219 OMIM:617201 OMIM:619833 OMIM:311200 OMIM:607432 ORPHA:255138 OMIM:214100 OMIM:619895 OMIM:619101 OMIM:620024 OMIM:618820 OMIM:619737 OMIM:618797 OMIM:210710 ORPHA:468631 OMIM:612289 OMIM:619312 OMIM:617563 OMIM:611603 OMIM:615771 ORPHA:300573 OMIM:615412 OMIM:618737 OMIM:617397 OMIM:619135 OMIM:604317 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619188 OMIM:603671

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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