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
..Lobar holoprosencephaly (HP:0006870)

Term ID:

6870

Name:

Lobar holoprosencephaly

Synonym:

Definition:

A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.

Comments:

Reference:

HP:0006870

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alobar holoprosencephaly (HP:0006988)

Ethmocephaly (HP:0030779)

Semilobar holoprosencephaly (HP:0002507)

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:0006870	HP:0006870	Lobar holoprosencephaly	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0006870	HP:0006870	Lobar holoprosencephaly	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34

Genes (21) :B9D1 B9D2 CC2D2A CEP290 CSPP1 FGFR1 MKS1 RAD21 RPGRIP1 RPGRIP1L RTTN TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 ZIC2

Diseases (6) :ORPHA:564 ORPHA:2117 OMIM:615465 OMIM:614701 ORPHA:468631 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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