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 cerebellum morphology (HP:0001317)

Parent Node:
Cerebellar malformation (HP:0002438)

..Starting node
..Chiari malformation (HP:0002308)

Term ID:

2308

Name:

Chiari malformation

Synonym:

Arnold-Chiari malformation

Definition:

Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.

Comments:

Reference:

HP:0002308

Genes and Diseases:

Child Nodes:

........

Arnold-Chiari type I malformation (HP:0007099)

Sister Nodes:

Abnormal cerebellar peduncle morphology (HP:0011931)

Abnormal cerebellar vermis morphology (HP:0002334)

Cerebellar cyst (HP:0002350)

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:0002308	HP:0002308	Chiari malformation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002308	HP:0002308	Chiari malformation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0002308	HP:0002308	Chiari malformation	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0002308	HP:0002308	Chiari malformation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0002308	HP:0002308	Chiari malformation	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002308	HP:0002308	Chiari malformation	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002308	HP:0002308	Chiari malformation	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002308	HP:0002308	Chiari malformation	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002308	HP:0002308	Chiari malformation	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0002308	HP:0002308	Chiari malformation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002308	HP:0002308	Chiari malformation	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002308	HP:0002308	Chiari malformation	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002308	HP:0002308	Chiari malformation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0002308	HP:0002308	Chiari malformation	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0002308	HP:0002308	Chiari malformation	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002308	HP:0002308	Chiari malformation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002308	HP:0002308	Chiari malformation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002308	HP:0002308	Chiari malformation	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002308	HP:0002308	Chiari malformation	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002308	HP:0002308	Chiari malformation	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0002308	HP:0002308	Chiari malformation	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0002308	HP:0002308	Chiari malformation	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0002308	HP:0002308	Chiari malformation	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0002308	HP:0002308	Chiari malformation	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002308	HP:0002308	Chiari malformation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0002308	HP:0002308	Chiari malformation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002308	HP:0002308	Chiari malformation	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	3
HP:0002308	HP:0002308	Chiari malformation	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0002308	HP:0002308	Chiari malformation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002308	HP:0002308	Chiari malformation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002308	HP:0002308	Chiari malformation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002308	HP:0002308	Chiari malformation	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002308	HP:0002308	Chiari malformation	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002308	HP:0002308	Chiari malformation	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0002308	HP:0002308	Chiari malformation	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0002308	HP:0002308	Chiari malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0002308	HP:0002308	Chiari malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0002308	HP:0002308	Chiari malformation	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002308	HP:0002308	Chiari malformation	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0002308	HP:0002308	Chiari malformation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0002308	HP:0002308	Chiari malformation	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0002308	HP:0002308	Chiari malformation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002308	HP:0002308	Chiari malformation	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0002308	HP:0002308	Chiari malformation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002308	HP:0002308	Chiari malformation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002308	HP:0002308	Chiari malformation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002308	HP:0002308	Chiari malformation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002308	HP:0002308	Chiari malformation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002308	HP:0002308	Chiari malformation	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002308	HP:0002308	Chiari malformation	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0002308	HP:0002308	Chiari malformation	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002308	HP:0002308	Chiari malformation	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002308	HP:0002308	Chiari malformation	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002308	HP:0002308	Chiari malformation	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0002308	HP:0002308	Chiari malformation	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0002308	HP:0002308	Chiari malformation	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002308	HP:0002308	Chiari malformation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0002308	HP:0002308	Chiari malformation	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare	217
HP:0002308	HP:0002308	Chiari malformation	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0002308	HP:0002308	Chiari malformation	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0002308	HP:0002308	Chiari malformation	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002308	HP:0002308	Chiari malformation	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002308	HP:0002308	Chiari malformation	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002308	HP:0002308	Chiari malformation	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0002308	HP:0002308	Chiari malformation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002308	HP:0002308	Chiari malformation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002308	HP:0002308	Chiari malformation	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002308	HP:0002308	Chiari malformation	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0002308	HP:0002308	Chiari malformation	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0002308	HP:0002308	Chiari malformation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002308	HP:0002308	Chiari malformation	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0002308	HP:0002308	Chiari malformation	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0002308	HP:0002308	Chiari malformation	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0002308	HP:0002308	Chiari malformation	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002308	HP:0002308	Chiari malformation	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002308	HP:0002308	Chiari malformation	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0002308	HP:0002308	Chiari malformation	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0002308	HP:0002308	Chiari malformation	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002308	HP:0002308	Chiari malformation	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002308	HP:0002308	Chiari malformation	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0002308	HP:0002308	Chiari malformation	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0002308	HP:0002308	Chiari malformation	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0002308	HP:0002308	Chiari malformation	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002308	HP:0002308	Chiari malformation	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002308	HP:0002308	Chiari malformation	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0002308	HP:0002308	Chiari malformation	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002308	HP:0002308	Chiari malformation	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002308	HP:0002308	Chiari malformation	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002308	HP:0002308	Chiari malformation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002308	HP:0002308	Chiari malformation	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0002308	HP:0002308	Chiari malformation	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0002308	HP:0002308	Chiari malformation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002308	HP:0002308	Chiari malformation	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002308	HP:0002308	Chiari malformation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002308	HP:0002308	Chiari malformation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0002308	HP:0002308	Chiari malformation	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	111
HP:0002308	HP:0002308	Chiari malformation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002308	HP:0002308	Chiari malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002308	HP:0002308	Chiari malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002308	HP:0025661	Chiari type III malformation	1	CL E G H
HP:0002308	HP:0025660	Chiari type II malformation	1	CL E G H
HP:0002308	HP:0007099	Chiari type I malformation	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0002308	HP:0007099	Chiari type I malformation	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002308	HP:0007099	Chiari type I malformation	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002308	HP:0007099	Chiari type I malformation	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002308	HP:0007099	Chiari type I malformation	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002308	HP:0007099	Chiari type I malformation	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002308	HP:0007099	Chiari type I malformation	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040280 - Obligate
HP:0002308	HP:0007099	Chiari type I malformation	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0002308	HP:0007099	Chiari type I malformation	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002308	HP:0007099	Chiari type I malformation	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002308	HP:0007099	Chiari type I malformation	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002308	HP:0007099	Chiari type I malformation	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002308	HP:0007099	Chiari type I malformation	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002308	HP:0007099	Chiari type I malformation	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002308	HP:0007099	Chiari type I malformation	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002308	HP:0007099	Chiari type I malformation	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0002308	HP:0007099	Chiari type I malformation	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0002308	HP:0007099	Chiari type I malformation	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002308	HP:0007099	Chiari type I malformation	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0002308	HP:0007099	Chiari type I malformation	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0002308	HP:0007099	Chiari type I malformation	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002308	HP:0007099	Chiari type I malformation	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002308	HP:0007099	Chiari type I malformation	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0002308	HP:0007099	Chiari type I malformation	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002308	HP:0007099	Chiari type I malformation	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002308	HP:0007099	Chiari type I malformation	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002308	HP:0007099	Chiari type I malformation	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002308	HP:0007099	Chiari type I malformation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0002308	HP:0007099	Chiari type I malformation	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0002308	HP:0007099	Chiari type I malformation	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002308	HP:0007099	Chiari type I malformation	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002308	HP:0007099	Chiari type I malformation	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002308	HP:0007099	Chiari type I malformation	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002308	HP:0007099	Chiari type I malformation	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0002308	HP:0007099	Chiari type I malformation	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0002308	HP:0007099	Chiari type I malformation	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0002308	HP:0007099	Chiari type I malformation	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0002308	HP:0007099	Chiari type I malformation	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002308	HP:0007099	Chiari type I malformation	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002308	HP:0007099	Chiari type I malformation	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002308	HP:0007099	Chiari type I malformation	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002308	HP:0007099	Chiari type I malformation	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:0002308	HP:0007099	Chiari type I malformation	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (96) :BAZ1B BCL7B BICRA BUD23 CDC45 CHD4 CLIP2 CREBBP CSF1R CTSK CWC27 DACT1 DHCR7 DHDDS DKK1 DNAJC30 DNMT3A DPF2 EIF4H ELN EP300 ERF FANCI FBN1 FGFR1 FGFR2 FGFR3 FKBP6 FLNA FOXF1 FUZ GNAQ GTF2I GTF2IRD1 GTF2IRD2 H3-3A HMGA2 HRAS IL11RA KANSL1 KRAS LEMD3 LIMK1 MAF MAN2B1 MAP3K7 METTL27 MKS1 MLXIPL NCF1 NFIA NFKB2 NONO NOTCH2 NOTCH3 NOVA2 PAX2 PHEX PIK3CA POLR3A POLR3B POR PORCN PPP1CB PPP1R12A PTCH1 PTH1R RFC2 RFWD3 RRAS2 SALL1 SC5D SETBP1 SETD2 SF3B2 SH2B1 SIK3 SKI SLC39A14 SMARCA2 SMO SON SPRED1 STAG1 STX1A TAOK1 TBL1XR1 TBL2 TGFBR1 TGFBR2 TMEM270 TMEM94 TONSL VANGL1 VPS37D ZEB2

Diseases (92) :ORPHA:904 OMIM:619325 OMIM:617063 OMIM:617159 ORPHA:353281 ORPHA:353277 OMIM:618476 ORPHA:763 ORPHA:166035 ORPHA:857 OMIM:270400 OMIM:617836 ORPHA:268882 OMIM:615879 ORPHA:404443 OMIM:618027 OMIM:194050 ORPHA:353284 OMIM:600775 ORPHA:207 OMIM:609053 ORPHA:2462 OMIM:101600 ORPHA:87 OMIM:101200 OMIM:123790 ORPHA:93259 ORPHA:93260 ORPHA:93262 ORPHA:1826 OMIM:265380 ORPHA:3027 ORPHA:3205 OMIM:619720 ORPHA:94063 OMIM:218040 OMIM:614188 ORPHA:363958 ORPHA:363965 OMIM:609942 ORPHA:1272 OMIM:601088 ORPHA:309282 OMIM:249000 ORPHA:401986 OMIM:613735 OMIM:615577 ORPHA:466791 ORPHA:955 ORPHA:2789 OMIM:130720 OMIM:618859 OMIM:120330 ORPHA:89936 ORPHA:60040 ORPHA:3455 OMIM:264090 OMIM:619742 OMIM:201750 ORPHA:95699 OMIM:305600 OMIM:617506 OMIM:618820 ORPHA:77301 OMIM:600002 OMIM:617784 OMIM:618624 ORPHA:46059 OMIM:607330 ORPHA:798 OMIM:616831 OMIM:164210 ORPHA:261197 OMIM:618162 OMIM:182212 OMIM:144755 OMIM:619293 OMIM:601707 OMIM:241800 ORPHA:500150 ORPHA:137605 OMIM:617635 OMIM:619575 ORPHA:487825 OMIM:602342 OMIM:609192 OMIM:610168 OMIM:618316 ORPHA:93357 OMIM:271510 ORPHA:261552 ORPHA:261537

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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