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:
Abnormality of the optic nerve (HP:0000587)

Grandparent Node:
Aplasia/Hypoplasia affecting the fundus (HP:0008057)

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

..Starting node
..Optic disc hypoplasia (HP:0007766)

Term ID:

7766

Name:

Optic disc hypoplasia

Synonym:

Hypoplastic optic discs; Hypoplastic optic disks

Definition:

Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.

Comments:

Reference:

HP:0007766

Genes and Diseases:

Child Nodes:

Sister Nodes:

Optic nerve aplasia (HP:0012521)

Optic nerve hypoplasia (HP:0000609)

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:0007766	HP:0007766	Optic disc hypoplasia	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0007766	HP:0007766	Optic disc hypoplasia	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0007766	HP:0007766	Optic disc hypoplasia	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0007766	HP:0007766	Optic disc hypoplasia	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0007766	HP:0007766	Optic disc hypoplasia	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0007766	HP:0007766	Optic disc hypoplasia	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0007766	HP:0007766	Optic disc hypoplasia	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0007766	HP:0007766	Optic disc hypoplasia	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0007766	HP:0007766	Optic disc hypoplasia	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0007766	HP:0007766	Optic disc hypoplasia	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0007766	HP:0007766	Optic disc hypoplasia	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0007766	HP:0007766	Optic disc hypoplasia	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0007766	HP:0007766	Optic disc hypoplasia	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0007766	HP:0007766	Optic disc hypoplasia	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent	194
HP:0007766	HP:0007766	Optic disc hypoplasia	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0007766	HP:0007766	Optic disc hypoplasia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0007766	HP:0007766	Optic disc hypoplasia	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0007766	HP:0007766	Optic disc hypoplasia	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0007766	HP:0007766	Optic disc hypoplasia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0007766	HP:0007766	Optic disc hypoplasia	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.	94
HP:0007766	HP:0007766	Optic disc hypoplasia	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent	80
HP:0007766	HP:0007766	Optic disc hypoplasia	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	HP:0040284 - Very rare	12

Genes (20) :APC ARSL CHN1 DDHD2 EXOC2 FANCB GDF3 GDF6 HESX1 HNRNPU MAFB NFIX NR2F1 PAX6 PLXNA1 POLR3A SALL4 SNAP29 SRD5A3 TRIT1

Diseases (19) :ORPHA:261584 ORPHA:79345 ORPHA:233 ORPHA:320380 OMIM:619306 OMIM:300514 OMIM:613703 OMIM:182230 ORPHA:238769 ORPHA:420179 ORPHA:401777 ORPHA:137902 OMIM:619955 ORPHA:3455 ORPHA:959 OMIM:607323 OMIM:609528 ORPHA:324737 OMIM:617873

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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