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 globe size (HP:0100887)

Grandparent Node:
Aplasia/Hypoplasia affecting the eye (HP:0008056)

Parent Node:
Microphthalmia (HP:0000568)

..Starting node
..Bilateral microphthalmos (HP:0007633)

Term ID:

7633

Name:

Bilateral microphthalmos

Synonym:

Abnormally small eyeball on both sides; Bilateral nanophthalmos; Decreased size of eyeballs; Decreased size of globes of eyes; Microphthalmia, bilateral

Definition:

A developmental anomaly characterized by abnormal smallness of both eyes.

Comments:

Reference:

HP:0007633

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral microphthalmos (HP:0011480)

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:0007633	HP:0007633	Bilateral microphthalmos	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0007633	HP:0007633	Bilateral microphthalmos	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007633	HP:0007633	Bilateral microphthalmos	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0007633	HP:0007633	Bilateral microphthalmos	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007633	HP:0007633	Bilateral microphthalmos	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007633	HP:0007633	Bilateral microphthalmos	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0007633	HP:0007633	Bilateral microphthalmos	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0007633	HP:0007633	Bilateral microphthalmos	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0007633	HP:0007633	Bilateral microphthalmos	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0007633	HP:0007633	Bilateral microphthalmos	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0007633	HP:0007633	Bilateral microphthalmos	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007633	HP:0007633	Bilateral microphthalmos	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007633	HP:0007633	Bilateral microphthalmos	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0007633	HP:0007633	Bilateral microphthalmos	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007633	HP:0007633	Bilateral microphthalmos	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional	194
HP:0007633	HP:0007633	Bilateral microphthalmos	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0007633	HP:0007633	Bilateral microphthalmos	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0007633	HP:0007633	Bilateral microphthalmos	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007633	HP:0007633	Bilateral microphthalmos	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0007633	HP:0007633	Bilateral microphthalmos	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	.	67
HP:0007633	HP:0007633	Bilateral microphthalmos	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0007633	HP:0007633	Bilateral microphthalmos	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007633	HP:0007633	Bilateral microphthalmos	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0007633	HP:0007633	Bilateral microphthalmos	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (24) :CAPN15 CARS1 ERCC1 ERCC2 ERCC3 FAM111A FIG4 FRAS1 GDF3 GDF6 GTF2E2 GTF2H5 MED13L MPLKIP PAX6 PTCH1 PUF60 RNF113A RTTN SHH STRA6 TARS1 TCOF1 VAC14

Diseases (15) :OMIM:619318 ORPHA:33364 OMIM:610758 ORPHA:93325 ORPHA:3472 OMIM:219000 OMIM:613703 ORPHA:369891 ORPHA:2334 OMIM:610828 ORPHA:508488 ORPHA:468631 OMIM:611638 OMIM:601186 OMIM:154500

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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