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 brain morphology (HP:0012443)

Parent Node:
Holoprosencephaly (HP:0001360)

..Starting node
..Semilobar holoprosencephaly (HP:0002507)

Term ID:

2507

Name:

Semilobar holoprosencephaly

Synonym:

Definition:

A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.

Comments:

Reference:

HP:0002507

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alobar holoprosencephaly (HP:0006988)

Ethmocephaly (HP:0030779)

Lobar holoprosencephaly (HP:0006870)

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:0002507	HP:0002507	Semilobar holoprosencephaly	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0002507	HP:0002507	Semilobar holoprosencephaly	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34

Genes (8) :CNOT1 PTCH1 SEC31A SIX3 SMC1A STAG2 TGIF1 ZIC2

Diseases (8) :ORPHA:556955 OMIM:610828 OMIM:618651 OMIM:157170 OMIM:301044 OMIM:301043 OMIM:142946 OMIM:609637

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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