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 meningeal morphology (HP:0010651)

Grandparent Node:
Spina bifida (HP:0002414)

Parent Node:
Meningocele (HP:0002435)

..Starting node
..Occipital meningocele (HP:0002436)

Term ID:

2436

Name:

Occipital meningocele

Synonym:

Definition:

A herniation of meninges through a congenital bone defect in the skull in the occipital region.

Comments:

Reference:

HP:0002436

Genes and Diseases:

Child Nodes:

........

Occipital myelomeningocele (HP:0007271)

Sister Nodes:

Frontoethmoidal meningocele (HP:0030729)

Lipomeningocele (HP:0030710)

Myelomeningocele (HP:0002475)

Parietal meningocele (HP:0030730)

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:0002436	HP:0002436	Occipital meningocele	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0002436	HP:0002436	Occipital meningocele	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0002436	HP:0002436	Occipital meningocele	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0002436	HP:0002436	Occipital meningocele	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002436	HP:0002436	Occipital meningocele	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0002436	HP:0002436	Occipital meningocele	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0002436	HP:0002436	Occipital meningocele	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002436	HP:0002436	Occipital meningocele	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0002436	HP:0002436	Occipital meningocele	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002436	HP:0002436	Occipital meningocele	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002436	HP:0002436	Occipital meningocele	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002436	HP:0002436	Occipital meningocele	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0002436	HP:0002436	Occipital meningocele	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002436	HP:0002436	Occipital meningocele	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040283 - Occasional	13
HP:0002436	HP:0007271	Occipital myelomeningocele	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0002436	HP:0007271	Occipital myelomeningocele	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0002436	HP:0007271	Occipital myelomeningocele	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0002436	HP:0007271	Occipital myelomeningocele	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0002436	HP:0007271	Occipital myelomeningocele	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	HP:0040283 - Occasional	111
HP:0002436	HP:0007271	Occipital myelomeningocele	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0002436	HP:0007271	Occipital myelomeningocele	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002436	HP:0007271	Occipital myelomeningocele	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002436	HP:0007271	Occipital myelomeningocele	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0002436	HP:0007271	Occipital myelomeningocele	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent

Genes (14) :ARVCF COL18A1 COMT CPLANE1 GP1BB HIRA INPP5E JMJD1C RREB1 SEC24C SMO TBX1 UFD1 WNT7A

Diseases (6) :ORPHA:567 OMIM:267750 OMIM:277170 OMIM:213300 OMIM:601707 OMIM:276820

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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