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)

Grandparent Node:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal eyelash morphology (HP:0000499)

..Starting node
..Curly eyelashes (HP:0007665)

Term ID:

7665

Name:

Curly eyelashes

Synonym:

Curly eyelashes

Definition:

Abnormally curly or curved eyelashes.

Comments:

Reference:

HP:0007665

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of lower eyelashes (HP:0040052)

Abnormality of upper eyelashes (HP:0040051)

Ectopic cilia of eyelid (HP:0430006)

Long eyelashes (HP:0000527)

Loss of eyelashes (HP:0011457)

Multiple rows of eyelashes (HP:0008496)

Prominent eyelashes (HP:0011231)

Short eyelashes (HP:0010764)

Sparse or absent eyelashes (HP:0200102)

Trichiasis (HP:0001128)

White eyelashes (HP:0002227)

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:0007665	HP:0007665	Curly eyelashes	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0007665	HP:0007665	Curly eyelashes	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0007665	HP:0007665	Curly eyelashes	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0007665	HP:0007665	Curly eyelashes	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0007665	HP:0007665	Curly eyelashes	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0007665	HP:0007665	Curly eyelashes	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0007665	HP:0007665	Curly eyelashes	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0007665	HP:0007665	Curly eyelashes	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0007665	HP:0007665	Curly eyelashes	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0007665	HP:0007665	Curly eyelashes	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0007665	HP:0007665	Curly eyelashes	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0007665	HP:0007665	Curly eyelashes	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0007665	HP:0007665	Curly eyelashes	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0007665	HP:0007665	Curly eyelashes	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0007665	HP:0007665	Curly eyelashes	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0007665	HP:0007665	Curly eyelashes	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0007665	HP:0007665	Curly eyelashes	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98

Genes (15) :ABCC9 BRD4 DVL1 DVL3 FZD2 HDAC8 KCNJ8 NIPBL RAD21 SMARCA2 SMC1A SMC3 ST14 STAG2 WNT5A

Diseases (8) :OMIM:239850 ORPHA:1517 ORPHA:199 ORPHA:3107 OMIM:122470 ORPHA:3051 OMIM:602400 OMIM:301022

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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