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:
Abnormal forebrain morphology (HP:0100547)

Parent Node:
Abnormal cerebral morphology (HP:0002060)

..Starting node
..Schizencephaly (HP:0010636)

Term ID:

10636

Name:

Schizencephaly

Synonym:

Definition:

The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.

Comments:

Reference:

HP:0010636

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebral cortex morphology (HP:0002538)

Abnormal cerebral subcortex morphology (HP:0010993)

Abnormal septum pellucidum morphology (HP:0007375)

Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Cerebral calcification (HP:0002514)

Cerebral edema (HP:0002181)

Cerebral granulomatosis (HP:0100313)

Cerebral inclusion bodies (HP:0100314)

Diffuse cerebral sclerosis (HP:0006918)

Encephalomalacia (HP:0040197)

Granulovacuolar degeneration (HP:0002528)

Leukoencephalopathy (HP:0002352)

Megalencephaly (HP:0001355)

Porencephalic cyst (HP:0002132)

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:0010636	HP:0010636	Schizencephaly	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0010636	HP:0010636	Schizencephaly	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0010636	HP:0010636	Schizencephaly	0	EMX2 CL E G H	2018	3341	OMIM:269160	SCHIZENCEPHALY	.	7
HP:0010636	HP:0010636	Schizencephaly	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0010636	HP:0010636	Schizencephaly	0	SHH CL E G H	6469	10848	OMIM:269160	SCHIZENCEPHALY	.	67
HP:0010636	HP:0010636	Schizencephaly	0	SIX3 CL E G H	6496	10889	OMIM:269160	SCHIZENCEPHALY	.	32
HP:0010636	HP:0010636	Schizencephaly	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040284 - Very rare	39
HP:0010636	HP:0010636	Schizencephaly	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0010636	HP:0010636	Schizencephaly	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.	12
HP:0010636	HP:0025704	Type 3 schizencephaly	1	CL E G H
HP:0010636	HP:0025703	Type 2 schizencephaly	1	CL E G H
HP:0010636	HP:0025702	Type 1 schizencephaly	1	CL E G H

Genes (9) :COL4A1 COL4A2 EMX2 EPG5 SHH SIX3 TUBB2B WDR62 WNT1

Diseases (7) :OMIM:175780 OMIM:614483 OMIM:269160 OMIM:242840 ORPHA:300573 OMIM:604317 OMIM:615220

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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