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:
Cerebellar malformation (HP:0002438)

Parent Node:
Chiari malformation (HP:0002308)

..Starting node
..Chiari type I malformation (HP:0007099)

Term ID:

7099

Name:

Chiari type I malformation

Synonym:

Arnold Chiari type I malformation; Arnold-Chiari type I malformation; Chiari I malformation

Definition:

Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)

Comments:

Reference:

HP:0007099

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007099	HP:0007099	Chiari type I malformation	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0007099	HP:0007099	Chiari type I malformation	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0007099	HP:0007099	Chiari type I malformation	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0007099	HP:0007099	Chiari type I malformation	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0007099	HP:0007099	Chiari type I malformation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007099	HP:0007099	Chiari type I malformation	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0007099	HP:0007099	Chiari type I malformation	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040280 - Obligate
HP:0007099	HP:0007099	Chiari type I malformation	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0007099	HP:0007099	Chiari type I malformation	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0007099	HP:0007099	Chiari type I malformation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0007099	HP:0007099	Chiari type I malformation	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0007099	HP:0007099	Chiari type I malformation	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0007099	HP:0007099	Chiari type I malformation	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0007099	HP:0007099	Chiari type I malformation	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0007099	HP:0007099	Chiari type I malformation	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0007099	HP:0007099	Chiari type I malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0007099	HP:0007099	Chiari type I malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0007099	HP:0007099	Chiari type I malformation	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0007099	HP:0007099	Chiari type I malformation	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0007099	HP:0007099	Chiari type I malformation	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0007099	HP:0007099	Chiari type I malformation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0007099	HP:0007099	Chiari type I malformation	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0007099	HP:0007099	Chiari type I malformation	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0007099	HP:0007099	Chiari type I malformation	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0007099	HP:0007099	Chiari type I malformation	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0007099	HP:0007099	Chiari type I malformation	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0007099	HP:0007099	Chiari type I malformation	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0007099	HP:0007099	Chiari type I malformation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0007099	HP:0007099	Chiari type I malformation	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0007099	HP:0007099	Chiari type I malformation	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0007099	HP:0007099	Chiari type I malformation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007099	HP:0007099	Chiari type I malformation	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0007099	HP:0007099	Chiari type I malformation	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0007099	HP:0007099	Chiari type I malformation	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0007099	HP:0007099	Chiari type I malformation	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0007099	HP:0007099	Chiari type I malformation	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0007099	HP:0007099	Chiari type I malformation	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0007099	HP:0007099	Chiari type I malformation	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0007099	HP:0007099	Chiari type I malformation	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0007099	HP:0007099	Chiari type I malformation	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0007099	HP:0007099	Chiari type I malformation	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0007099	HP:0007099	Chiari type I malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0007099	HP:0007099	Chiari type I malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (38) :CDC45 CREBBP CSF1R CWC27 DHCR7 DHDDS DKK1 DNMT3A DPF2 ELN EP300 ERF FGFR2 H3-3A HRAS KANSL1 KRAS MAF MLXIPL NFIA NFKB2 NONO NOTCH3 NOVA2 PAX2 POLR3A POLR3B PPP1CB SETBP1 SH2B1 SKI SLC39A14 SMO SPRED1 STAG1 TAOK1 TMEM94 ZEB2

Diseases (42) :OMIM:617063 ORPHA:353277 OMIM:618476 ORPHA:166035 OMIM:270400 OMIM:617836 ORPHA:268882 OMIM:615879 OMIM:618027 OMIM:194050 ORPHA:353284 OMIM:600775 OMIM:101200 OMIM:619720 OMIM:218040 ORPHA:363958 ORPHA:363965 OMIM:609942 ORPHA:1272 OMIM:601088 ORPHA:401986 OMIM:613735 OMIM:615577 ORPHA:466791 OMIM:130720 OMIM:618859 OMIM:120330 ORPHA:3455 OMIM:619742 OMIM:617506 ORPHA:798 ORPHA:261197 OMIM:182212 OMIM:144755 OMIM:601707 OMIM:241800 ORPHA:137605 OMIM:617635 OMIM:619575 OMIM:618316 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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