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 eyelid morphology (HP:0000492)

Parent Node:
Aplasia/Hypoplasia of the eyelid (HP:0011226)

..Starting node
..Cryptophthalmos (HP:0001126)

Term ID:

1126

Name:

Cryptophthalmos

Synonym:

Definition:

Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.

Comments:

Reference:

HP:0001126

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ablepharon (HP:0011224)

Eyelid coloboma (HP:0000625)

Hypoplasia of eyelid (HP:0430009)

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:0001126	HP:0001126	Cryptophthalmos	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0001126	HP:0001126	Cryptophthalmos	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0001126	HP:0001126	Cryptophthalmos	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040283 - Occasional	198
HP:0001126	HP:0001126	Cryptophthalmos	0	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0001126	HP:0001126	Cryptophthalmos	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0001126	HP:0001126	Cryptophthalmos	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0001126	HP:0001126	Cryptophthalmos	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0001126	HP:0001126	Cryptophthalmos	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0001126	HP:0001126	Cryptophthalmos	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0001126	HP:0001126	Cryptophthalmos	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0001126	HP:0001126	Cryptophthalmos	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7

Genes (6) :FRAS1 FREM1 FREM2 GRIP1 MAB21L2 TWIST2

Diseases (9) :ORPHA:2052 OMIM:219000 ORPHA:2717 OMIM:123570 OMIM:617666 OMIM:617667 OMIM:615877 ORPHA:920 OMIM:200110

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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