Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal cerebrospinal fluid morphology (HP:0002921)

..Starting node
..Extra-axial cerebrospinal fluid accumulation (HP:0012510)

Term ID:

12510

Name:

Extra-axial cerebrospinal fluid accumulation

Synonym:

Extra-axial CSF accumulation

Definition:

An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.

Comments:

Reference:

HP:0012510

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF metabolite concentration (HP:0025454)

Abnormal CSF protein concentration (HP:0025456)

Abnormal CSF/serum albumin ratio (HP:0030981)

Cerebrospinal fluid rhinorrhoea (HP:0030998)

CSF pleocytosis (HP:0012229)

Hydrocephalus (HP:0000238)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS	32
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26	44
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27	11
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH	5
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH	5
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	13
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012510	HP:0012510	Extra-axial cerebrospinal fluid accumulation	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	3

Genes (9) :COPB2 GRIK2 LMNB1 LMNB2 MADD PPP1R21 TBCK TET3 TSEN15

Diseases (10) :OMIM:617800 OMIM:619580 OMIM:619179 OMIM:619180 OMIM:619004 OMIM:619005 OMIM:619383 OMIM:616900 OMIM:618798 OMIM:617026

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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