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:
Abnormal eye morphology (HP:0012372)

Parent Node:
obsolete Abnormal globe morphology (HP:0012374)

..Starting node
..Phthisis bulbi (HP:0000667)

Term ID:

667

Name:

Phthisis bulbi

Synonym:

Definition:

Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.

Comments:

Reference:

HP:0000667

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal anterior eye segment morphology (HP:0004328)

Abnormal posterior eye segment morphology (HP:0004329)

Abnormal sclera morphology (HP:0000591)

Abnormal uvea morphology (HP:0000553)

Abnormality of globe location (HP:0100886)

Abnormality of globe size (HP:0100887)

Abnormality of the vasculature of the eye (HP:0008047)

Aplasia/Hypoplasia affecting the eye (HP:0008056)

Spontaneous rupture of the globe (HP:0010727)

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:0000667	HP:0000667	Phthisis bulbi	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000667	HP:0000667	Phthisis bulbi	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0000667	HP:0000667	Phthisis bulbi	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0000667	HP:0000667	Phthisis bulbi	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000667	HP:0000667	Phthisis bulbi	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0000667	HP:0000667	Phthisis bulbi	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0000667	HP:0000667	Phthisis bulbi	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000667	HP:0000667	Phthisis bulbi	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000667	HP:0000667	Phthisis bulbi	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000667	HP:0000667	Phthisis bulbi	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0000667	HP:0000667	Phthisis bulbi	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0000667	HP:0000667	Phthisis bulbi	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000667	HP:0000667	Phthisis bulbi	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000667	HP:0000667	Phthisis bulbi	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000667	HP:0000667	Phthisis bulbi	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000667	HP:0000667	Phthisis bulbi	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000667	HP:0000667	Phthisis bulbi	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI

Genes (16) :ATOH7 BCOR BRD4 CDH11 COL18A1 FZD4 HDAC8 HMX1 LRP5 MARK3 NDP NIPBL RAD21 SMC1A SMC3 TMEM53

Diseases (10) :ORPHA:91495 OMIM:221900 OMIM:300166 ORPHA:199 OMIM:211380 OMIM:267750 OMIM:612109 OMIM:259770 OMIM:618283 OMIM:619727

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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