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:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Grandparent Node:
Aplasia/Hypoplasia of the optic nerve (HP:0008058)

Parent Node:
Absent septum pellucidum (HP:0001331)

Parent Node:
Optic nerve hypoplasia (HP:0000609)

..Starting node
..Septo-optic dysplasia (HP:0100842)

Term ID:

100842

Name:

Septo-optic dysplasia

Synonym:

De Morsier syndrome

Definition:

Underdevelopment of the optic nerve and absence of the septum pellucidum.

Comments:

Reference:

HP:0100842

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100842	HP:0100842	Septo-optic dysplasia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0100842	HP:0100842	Septo-optic dysplasia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100842	HP:0100842	Septo-optic dysplasia	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0100842	HP:0100842	Septo-optic dysplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0100842	HP:0100842	Septo-optic dysplasia	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0100842	HP:0100842	Septo-optic dysplasia	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0100842	HP:0100842	Septo-optic dysplasia	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0100842	HP:0100842	Septo-optic dysplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0100842	HP:0100842	Septo-optic dysplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0100842	HP:0100842	Septo-optic dysplasia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0100842	HP:0100842	Septo-optic dysplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0100842	HP:0100842	Septo-optic dysplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0100842	HP:0100842	Septo-optic dysplasia	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0100842	HP:0100842	Septo-optic dysplasia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0100842	HP:0100842	Septo-optic dysplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0100842	HP:0100842	Septo-optic dysplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0100842	HP:0100842	Septo-optic dysplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0100842	HP:0100842	Septo-optic dysplasia	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0100842	HP:0100842	Septo-optic dysplasia	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0100842	HP:0100842	Septo-optic dysplasia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0100842	HP:0100842	Septo-optic dysplasia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0100842	HP:0100842	Septo-optic dysplasia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0100842	HP:0100842	Septo-optic dysplasia	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0100842	HP:0100842	Septo-optic dysplasia	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0100842	HP:0100842	Septo-optic dysplasia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12

Genes (20) :ARNT2 CDC42BPB CDON FGFR1 FOXA2 GLI2 GPR161 HESX1 LHX4 OTX2 POU1F1 PROKR2 PROP1 ROBO1 RSPO2 SOX2 SOX3 STAG2 WDR11 WNT3

Diseases (6) :ORPHA:3157 OMIM:619841 ORPHA:95496 ORPHA:95494 ORPHA:3301 OMIM:301043

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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