Human Phenotype Ontology

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

Grandparent Node:
Abnormal cerebral cortex morphology (HP:0002538)

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

Parent Node:
Abnormal cortical gyration (HP:0002536)

..Starting node
..Simplified gyral pattern (HP:0009879)

Term ID:

9879

Name:

Simplified gyral pattern

Synonym:

Cortical gyral simplification

Definition:

An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.

Comments:

Reference:

HP:0009879

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lissencephaly (HP:0001339)

Macrogyria (HP:0007227)

Polymicrogyria (HP:0002126)

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:0009879	HP:0009879	Simplified gyral pattern	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0009879	HP:0009879	Simplified gyral pattern	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0009879	HP:0009879	Simplified gyral pattern	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0009879	HP:0009879	Simplified gyral pattern	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0009879	HP:0009879	Simplified gyral pattern	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0009879	HP:0009879	Simplified gyral pattern	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0009879	HP:0009879	Simplified gyral pattern	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0009879	HP:0009879	Simplified gyral pattern	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0009879	HP:0009879	Simplified gyral pattern	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0009879	HP:0009879	Simplified gyral pattern	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0009879	HP:0009879	Simplified gyral pattern	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	HP:0040283 - Occasional	181
HP:0009879	HP:0009879	Simplified gyral pattern	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.	6
HP:0009879	HP:0009879	Simplified gyral pattern	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0009879	HP:0009879	Simplified gyral pattern	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.	146
HP:0009879	HP:0009879	Simplified gyral pattern	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0009879	HP:0009879	Simplified gyral pattern	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040283 - Occasional	7
HP:0009879	HP:0009879	Simplified gyral pattern	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0009879	HP:0009879	Simplified gyral pattern	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0009879	HP:0009879	Simplified gyral pattern	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0009879	HP:0009879	Simplified gyral pattern	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0009879	HP:0009879	Simplified gyral pattern	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	HP:0040283 - Occasional	38
HP:0009879	HP:0009879	Simplified gyral pattern	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0009879	HP:0009879	Simplified gyral pattern	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare	9
HP:0009879	HP:0009879	Simplified gyral pattern	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0009879	HP:0009879	Simplified gyral pattern	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0009879	HP:0009879	Simplified gyral pattern	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0009879	HP:0009879	Simplified gyral pattern	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0009879	HP:0009879	Simplified gyral pattern	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0009879	HP:0009879	Simplified gyral pattern	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0009879	HP:0009879	Simplified gyral pattern	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0009879	HP:0009879	Simplified gyral pattern	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare	43
HP:0009879	HP:0009879	Simplified gyral pattern	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.	3
HP:0009879	HP:0009879	Simplified gyral pattern	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0009879	HP:0009879	Simplified gyral pattern	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0009879	HP:0009879	Simplified gyral pattern	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0009879	HP:0009879	Simplified gyral pattern	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0009879	HP:0009879	Simplified gyral pattern	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0009879	HP:0009879	Simplified gyral pattern	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0009879	HP:0009879	Simplified gyral pattern	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0009879	HP:0009879	Simplified gyral pattern	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0009879	HP:0009879	Simplified gyral pattern	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0009879	HP:0009879	Simplified gyral pattern	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.	96
HP:0009879	HP:0009879	Simplified gyral pattern	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0009879	HP:0009879	Simplified gyral pattern	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0009879	HP:0009879	Simplified gyral pattern	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0009879	HP:0009879	Simplified gyral pattern	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0009879	HP:0009879	Simplified gyral pattern	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0009879	HP:0009879	Simplified gyral pattern	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay	.	244
HP:0009879	HP:0009879	Simplified gyral pattern	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0009879	HP:0009879	Simplified gyral pattern	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0009879	HP:0009879	Simplified gyral pattern	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0009879	HP:0009879	Simplified gyral pattern	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	HP:0040283 - Occasional
HP:0009879	HP:0009879	Simplified gyral pattern	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0009879	HP:0009879	Simplified gyral pattern	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0009879	HP:0009879	Simplified gyral pattern	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0009879	HP:0009879	Simplified gyral pattern	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0009879	HP:0009879	Simplified gyral pattern	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0009879	HP:0009879	Simplified gyral pattern	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0009879	HP:0009879	Simplified gyral pattern	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	HP:0040283 - Occasional	99
HP:0009879	HP:0009879	Simplified gyral pattern	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0009879	HP:0009879	Simplified gyral pattern	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0009879	HP:0009879	Simplified gyral pattern	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	HP:0040283 - Occasional	84
HP:0009879	HP:0009879	Simplified gyral pattern	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0009879	HP:0009879	Simplified gyral pattern	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	HP:0040283 - Occasional	23
HP:0009879	HP:0009879	Simplified gyral pattern	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0009879	HP:0009879	Simplified gyral pattern	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0009879	HP:0009879	Simplified gyral pattern	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0009879	HP:0009879	Simplified gyral pattern	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0009879	HP:0009879	Simplified gyral pattern	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0009879	HP:0009879	Simplified gyral pattern	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0009879	HP:0009879	Simplified gyral pattern	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0009879	HP:0009879	Simplified gyral pattern	0	ZNF335 CL E G H	63925	15807	ORPHA:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	HP:0040281 - Very frequent	60
HP:0009879	HP:0009879	Simplified gyral pattern	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0009879	HP:0009879	Simplified gyral pattern	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24

Genes (74) :AHDC1 ANKLE2 ARID1A ARID1B ARID2 ASNS ASPM C2CD3 CASK CDC40 CDK5RAP2 CDK6 CENPE CEP152 CIT CLP1 COPB2 CSNK2A1 CUL4B DCHS1 DONSON DPF2 DYNC1I2 ERCC1 EXOC7 FKRP FOXG1 GFM2 GMNN IER3IP1 KATNB1 KIF11 KIF14 LIPT2 LMNB1 LMNB2 MED27 MPDZ NDE1 NDUFA6 NSRP1 OSGEP PDCD6IP PLK4 PNKP PPIL1 PRKDC PSAT1 QARS1 RTTN SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMPD4 SON SOX11 SOX4 SPOP STIL TMEM222 TRAIP TSEN2 TTC5 TUBB2A TUBB3 TUBGCP6 VLDLR WDR62 XRCC4 YRDC ZNF335 ZNF526

Diseases (69) :OMIM:615829 OMIM:616681 ORPHA:1465 OMIM:615574 OMIM:608716 OMIM:615948 OMIM:300749 OMIM:619302 OMIM:604804 OMIM:616080 OMIM:616051 OMIM:614852 OMIM:617090 ORPHA:411493 OMIM:615803 OMIM:619884 OMIM:617800 OMIM:617062 OMIM:300354 OMIM:601390 OMIM:617604 OMIM:251230 OMIM:618492 OMIM:610758 OMIM:619072 OMIM:613153 OMIM:613454 OMIM:618397 OMIM:616835 OMIM:614231 OMIM:616212 OMIM:152950 OMIM:617914 OMIM:617668 OMIM:619179 OMIM:619180 OMIM:619286 OMIM:615219 OMIM:614019 OMIM:618253 OMIM:620001 OMIM:617729 OMIM:620047 OMIM:616171 OMIM:613402 OMIM:619301 OMIM:615966 ORPHA:284417 OMIM:615760 ORPHA:468631 OMIM:618622 ORPHA:500150 OMIM:618828 OMIM:612703 OMIM:619470 OMIM:616777 OMIM:612389 OMIM:619244 OMIM:615763 ORPHA:300570 OMIM:614039 OMIM:251270 OMIM:224050 OMIM:604317 OMIM:616541 OMIM:619609 ORPHA:329228 OMIM:615095 OMIM:619877

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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