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 eyebrow morphology (HP:0000534)

Parent Node:
Aplasia/Hypoplasia of the eyebrow (HP:0100840)

..Starting node
..Thin eyebrow (HP:0045074)

Term ID:

45074

Name:

Thin eyebrow

Synonym:

Thin eyebrow; Thin eyebrows

Definition:

Decreased diameter of eyebrow hairs.

Comments:

Reference:

HP:0045074

Genes and Diseases:

Child Nodes:

........

Sparse and thin eyebrow (HP:0000535)

Sister Nodes:

Absent eyebrow (HP:0002223)

Sparse eyebrow (HP:0045075)

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:0045074	HP:0045074	Thin eyebrow	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0045074	HP:0045074	Thin eyebrow	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0045074	HP:0045074	Thin eyebrow	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0045074	HP:0045074	Thin eyebrow	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0045074	HP:0045074	Thin eyebrow	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0045074	HP:0045074	Thin eyebrow	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0045074	HP:0045074	Thin eyebrow	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0045074	HP:0045074	Thin eyebrow	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0045074	HP:0045074	Thin eyebrow	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0045074	HP:0045074	Thin eyebrow	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0045074	HP:0045074	Thin eyebrow	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0045074	HP:0045074	Thin eyebrow	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0045074	HP:0045074	Thin eyebrow	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0045074	HP:0045074	Thin eyebrow	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0045074	HP:0045074	Thin eyebrow	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0045074	HP:0045074	Thin eyebrow	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0045074	HP:0045074	Thin eyebrow	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0045074	HP:0045074	Thin eyebrow	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0045074	HP:0045074	Thin eyebrow	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0045074	HP:0045074	Thin eyebrow	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0045074	HP:0045074	Thin eyebrow	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent	9
HP:0045074	HP:0045074	Thin eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0045074	HP:0045074	Thin eyebrow	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13

Genes (22) :AASS AEBP1 ASXL3 ATP1A2 ATP1A3 BCL11B CACNA1A CCNK CDC45 EPS8L3 KAT6A KDM4B KREMEN1 MBTPS2 PEX1 PEX6 RBL2 RNU4ATAC SLC1A3 STAG1 TRPS1 UBE3B

Diseases (19) :ORPHA:2203 OMIM:618000 OMIM:615485 ORPHA:2131 OMIM:618092 OMIM:618147 OMIM:617063 OMIM:612841 OMIM:616268 OMIM:619320 OMIM:617392 ORPHA:2273 ORPHA:3220 OMIM:619690 ORPHA:2636 OMIM:617635 ORPHA:502434 OMIM:190350 ORPHA:2707

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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