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:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Spinal cord lesion (HP:0100561)

..Starting node
..Syringomyelia (HP:0003396)

Term ID:

3396

Name:

Syringomyelia

Synonym:

Fluid-filled cyst in spinal cord; Syrinx

Definition:

Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.

Comments:

Reference:

HP:0003396

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyelia (HP:0100566)

Diastomatomyelia (HP:0100563)

Diplomyelia (HP:0100562)

Hydromyelia (HP:0100565)

Triplomyelia (HP:0100564)

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:0003396	HP:0003396	Syringomyelia	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0003396	HP:0003396	Syringomyelia	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0003396	HP:0003396	Syringomyelia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0003396	HP:0003396	Syringomyelia	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0003396	HP:0003396	Syringomyelia	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0003396	HP:0003396	Syringomyelia	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0003396	HP:0003396	Syringomyelia	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0003396	HP:0003396	Syringomyelia	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003396	HP:0003396	Syringomyelia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0003396	HP:0003396	Syringomyelia	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0003396	HP:0003396	Syringomyelia	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0003396	HP:0003396	Syringomyelia	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0003396	HP:0003396	Syringomyelia	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:0003396	HP:0003396	Syringomyelia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0003396	HP:0003396	Syringomyelia	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0003396	HP:0003396	Syringomyelia	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0003396	HP:0003396	Syringomyelia	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0003396	HP:0003396	Syringomyelia	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0003396	HP:0003396	Syringomyelia	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0003396	HP:0003396	Syringomyelia	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0003396	HP:0003396	Syringomyelia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0003396	HP:0003396	Syringomyelia	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0003396	HP:0003396	Syringomyelia	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0003396	HP:0003396	Syringomyelia	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0003396	HP:0003396	Syringomyelia	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0003396	HP:0003396	Syringomyelia	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003396	HP:0003396	Syringomyelia	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003396	HP:0003396	Syringomyelia	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0003396	HP:0003396	Syringomyelia	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0003396	HP:0003396	Syringomyelia	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	HP:0040283 - Occasional	19

Genes (28) :ABCA1 ACY1 CCNQ CREBBP CTNNB1 DDHD2 DDR2 DKK1 EP300 EXT1 EXT2 FBLN1 FOXF1 FUZ HMGA2 IL11RA KDM1A LEMD3 NFIA NOTCH2 NOTCH3 NRAS RAI1 RBM8A RUNX2 SETD2 SH2B1 TBX6

Diseases (28) :ORPHA:31150 ORPHA:137754 ORPHA:140952 ORPHA:353281 ORPHA:353277 ORPHA:404473 OMIM:615033 OMIM:271665 ORPHA:268882 ORPHA:353284 ORPHA:321 ORPHA:404451 OMIM:265380 ORPHA:1136 ORPHA:94063 OMIM:614188 OMIM:616728 OMIM:613735 ORPHA:955 ORPHA:2789 OMIM:130720 OMIM:249400 ORPHA:477817 OMIM:274000 OMIM:119600 OMIM:616831 ORPHA:261197 OMIM:122600

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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