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

Parent Node:
Sparse eyebrow (HP:0045075)

..Starting node
..Sparse lateral eyebrow (HP:0005338)

Term ID:

5338

Name:

Sparse lateral eyebrow

Synonym:

Lateral hypoplasia of eyebrows; Lateral thinning of eyebrows; Laterally sparse eyebrow; Laterally sparse eyebrows; Limited hair on end of eyebrow; Sparse lateral eyebrows

Definition:

Decreased density/number and/or decreased diameter of lateral eyebrow hairs.

Comments:

Reference:

HP:0005338

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Sparse and thin eyebrow (HP:0000535)

Sparse medial eyebrow (HP:0025325)

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:0005338	HP:0005338	Sparse lateral eyebrow	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.	53
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional	2
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional	1
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional	5
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional	12
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional	8
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent	53
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0005338	HP:0005338	Sparse lateral eyebrow	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS

Genes (34) :ATR CDC42BPB COG6 EDARADD H4C5 HEPHL1 HNRNPK IRX5 KAT5 KDM6A KMT2D KMT5B KRT25 KRT71 KRT74 LIG4 LIPH LMBRD2 LPAR6 MAN1B1 MESD NECTIN1 NSUN2 PIGK PLXNA1 PPP1CB PQBP1 PURA TBX3 TRPS1 TWIST2 USB1 WDR26 WLS

Diseases (31) :OMIM:614564 OMIM:619841 ORPHA:363523 OMIM:614941 OMIM:619950 OMIM:261990 OMIM:616580 OMIM:611174 OMIM:619103 ORPHA:2322 OMIM:300867 OMIM:617788 ORPHA:170 ORPHA:235 OMIM:619694 OMIM:614202 OMIM:618644 ORPHA:3253 OMIM:618879 OMIM:619955 OMIM:617506 OMIM:309500 ORPHA:314655 OMIM:181450 OMIM:190350 OMIM:190351 ORPHA:1807 OMIM:604173 ORPHA:513456 OMIM:617616 OMIM:619648

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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