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
..Sparse eyebrow (HP:0045075)

Term ID:

45075

Name:

Sparse eyebrow

Synonym:

Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows

Definition:

Decreased density/number of eyebrow hairs.

Comments:

Reference:

HP:0045075

Genes and Diseases:

Child Nodes:

........

Sparse and thin eyebrow (HP:0000535)

........

Sparse lateral eyebrow (HP:0005338)

........

Sparse medial eyebrow (HP:0025325)

Sister Nodes:

Absent eyebrow (HP:0002223)

Thin eyebrow (HP:0045074)

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:0045075	HP:0045075	Sparse eyebrow	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0045075	HP:0045075	Sparse eyebrow	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0045075	HP:0045075	Sparse eyebrow	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0045075	HP:0045075	Sparse eyebrow	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0045075	HP:0045075	Sparse eyebrow	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0045075	HP:0045075	Sparse eyebrow	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare	1
HP:0045075	HP:0045075	Sparse eyebrow	0	APCDD1 CL E G H	147495	15718	ORPHA:55654	Hypotrichosis simplex		1
HP:0045075	HP:0045075	Sparse eyebrow	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0045075	HP:0045075	Sparse eyebrow	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0045075	HP:0045075	Sparse eyebrow	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0045075	HP:0045075	Sparse eyebrow	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0045075	HP:0045075	Sparse eyebrow	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0045075	HP:0045075	Sparse eyebrow	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0045075	HP:0045075	Sparse eyebrow	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0045075	HP:0045075	Sparse eyebrow	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0045075	HP:0045075	Sparse eyebrow	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0045075	HP:0045075	Sparse eyebrow	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0045075	HP:0045075	Sparse eyebrow	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0045075	HP:0045075	Sparse eyebrow	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0045075	HP:0045075	Sparse eyebrow	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0045075	HP:0045075	Sparse eyebrow	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0045075	HP:0045075	Sparse eyebrow	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0045075	HP:0045075	Sparse eyebrow	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0045075	HP:0045075	Sparse eyebrow	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0045075	HP:0045075	Sparse eyebrow	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0045075	HP:0045075	Sparse eyebrow	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0045075	HP:0045075	Sparse eyebrow	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent	3
HP:0045075	HP:0045075	Sparse eyebrow	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0045075	HP:0045075	Sparse eyebrow	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0045075	HP:0045075	Sparse eyebrow	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0045075	HP:0045075	Sparse eyebrow	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0045075	HP:0045075	Sparse eyebrow	0	DSG4 CL E G H	147409	21307	ORPHA:55654	Hypotrichosis simplex		63
HP:0045075	HP:0045075	Sparse eyebrow	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0045075	HP:0045075	Sparse eyebrow	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0045075	HP:0045075	Sparse eyebrow	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0045075	HP:0045075	Sparse eyebrow	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0045075	HP:0045075	Sparse eyebrow	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0045075	HP:0045075	Sparse eyebrow	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0045075	HP:0045075	Sparse eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0045075	HP:0045075	Sparse eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0045075	HP:0045075	Sparse eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0045075	HP:0045075	Sparse eyebrow	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0045075	HP:0045075	Sparse eyebrow	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0045075	HP:0045075	Sparse eyebrow	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0045075	HP:0045075	Sparse eyebrow	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0045075	HP:0045075	Sparse eyebrow	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0045075	HP:0045075	Sparse eyebrow	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0045075	HP:0045075	Sparse eyebrow	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0045075	HP:0045075	Sparse eyebrow	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0045075	HP:0045075	Sparse eyebrow	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0045075	HP:0045075	Sparse eyebrow	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0045075	HP:0045075	Sparse eyebrow	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0045075	HP:0045075	Sparse eyebrow	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0045075	HP:0045075	Sparse eyebrow	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0045075	HP:0045075	Sparse eyebrow	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0045075	HP:0045075	Sparse eyebrow	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent	16
HP:0045075	HP:0045075	Sparse eyebrow	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0045075	HP:0045075	Sparse eyebrow	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0045075	HP:0045075	Sparse eyebrow	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0045075	HP:0045075	Sparse eyebrow	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0045075	HP:0045075	Sparse eyebrow	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0045075	HP:0045075	Sparse eyebrow	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0045075	HP:0045075	Sparse eyebrow	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0045075	HP:0045075	Sparse eyebrow	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0045075	HP:0045075	Sparse eyebrow	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0045075	HP:0045075	Sparse eyebrow	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0045075	HP:0045075	Sparse eyebrow	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0045075	HP:0045075	Sparse eyebrow	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0045075	HP:0045075	Sparse eyebrow	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0045075	HP:0045075	Sparse eyebrow	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0045075	HP:0045075	Sparse eyebrow	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0045075	HP:0045075	Sparse eyebrow	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0045075	HP:0045075	Sparse eyebrow	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0045075	HP:0045075	Sparse eyebrow	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair		2
HP:0045075	HP:0045075	Sparse eyebrow	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair		1
HP:0045075	HP:0045075	Sparse eyebrow	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0045075	HP:0045075	Sparse eyebrow	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair		5
HP:0045075	HP:0045075	Sparse eyebrow	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0045075	HP:0045075	Sparse eyebrow	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0045075	HP:0045075	Sparse eyebrow	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0045075	HP:0045075	Sparse eyebrow	0	LIPH CL E G H	200879	18483	ORPHA:55654	Hypotrichosis simplex		12
HP:0045075	HP:0045075	Sparse eyebrow	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair		12
HP:0045075	HP:0045075	Sparse eyebrow	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0045075	HP:0045075	Sparse eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0045075	HP:0045075	Sparse eyebrow	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0045075	HP:0045075	Sparse eyebrow	0	LPAR6 CL E G H	10161	15520	ORPHA:55654	Hypotrichosis simplex		8
HP:0045075	HP:0045075	Sparse eyebrow	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair		8
HP:0045075	HP:0045075	Sparse eyebrow	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0045075	HP:0045075	Sparse eyebrow	0	LSS CL E G H	4047	6708	ORPHA:55654	Hypotrichosis simplex		2
HP:0045075	HP:0045075	Sparse eyebrow	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0045075	HP:0045075	Sparse eyebrow	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0045075	HP:0045075	Sparse eyebrow	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0045075	HP:0045075	Sparse eyebrow	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0045075	HP:0045075	Sparse eyebrow	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0045075	HP:0045075	Sparse eyebrow	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0045075	HP:0045075	Sparse eyebrow	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0045075	HP:0045075	Sparse eyebrow	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0045075	HP:0045075	Sparse eyebrow	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0045075	HP:0045075	Sparse eyebrow	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0045075	HP:0045075	Sparse eyebrow	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0045075	HP:0045075	Sparse eyebrow	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0045075	HP:0045075	Sparse eyebrow	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0045075	HP:0045075	Sparse eyebrow	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0045075	HP:0045075	Sparse eyebrow	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0045075	HP:0045075	Sparse eyebrow	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0045075	HP:0045075	Sparse eyebrow	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0045075	HP:0045075	Sparse eyebrow	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0045075	HP:0045075	Sparse eyebrow	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0045075	HP:0045075	Sparse eyebrow	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0045075	HP:0045075	Sparse eyebrow	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0045075	HP:0045075	Sparse eyebrow	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0045075	HP:0045075	Sparse eyebrow	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0045075	HP:0045075	Sparse eyebrow	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0045075	HP:0045075	Sparse eyebrow	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0045075	HP:0045075	Sparse eyebrow	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0045075	HP:0045075	Sparse eyebrow	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0045075	HP:0045075	Sparse eyebrow	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0045075	HP:0045075	Sparse eyebrow	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0045075	HP:0045075	Sparse eyebrow	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0045075	HP:0045075	Sparse eyebrow	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0045075	HP:0045075	Sparse eyebrow	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0045075	HP:0045075	Sparse eyebrow	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0045075	HP:0045075	Sparse eyebrow	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0045075	HP:0045075	Sparse eyebrow	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0045075	HP:0045075	Sparse eyebrow	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0045075	HP:0045075	Sparse eyebrow	0	RPL21 CL E G H	6144	10313	ORPHA:55654	Hypotrichosis simplex		1
HP:0045075	HP:0045075	Sparse eyebrow	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0045075	HP:0045075	Sparse eyebrow	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0045075	HP:0045075	Sparse eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0045075	HP:0045075	Sparse eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0045075	HP:0045075	Sparse eyebrow	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0045075	HP:0045075	Sparse eyebrow	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0045075	HP:0045075	Sparse eyebrow	0	SNRPE CL E G H	6635	11161	ORPHA:55654	Hypotrichosis simplex		2
HP:0045075	HP:0045075	Sparse eyebrow	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0045075	HP:0045075	Sparse eyebrow	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0045075	HP:0045075	Sparse eyebrow	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0045075	HP:0045075	Sparse eyebrow	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0045075	HP:0045075	Sparse eyebrow	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0045075	HP:0045075	Sparse eyebrow	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0045075	HP:0045075	Sparse eyebrow	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0045075	HP:0045075	Sparse eyebrow	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0045075	HP:0045075	Sparse eyebrow	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0045075	HP:0045075	Sparse eyebrow	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0045075	HP:0045075	Sparse eyebrow	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0045075	HP:0045075	Sparse eyebrow	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0045075	HP:0045075	Sparse eyebrow	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0045075	HP:0045075	Sparse eyebrow	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0045075	HP:0045075	Sparse eyebrow	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0045075	HP:0045075	Sparse eyebrow	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0045075	HP:0045075	Sparse eyebrow	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0045075	HP:0045075	Sparse eyebrow	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0045075	HP:0045075	Sparse eyebrow	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0045075	HP:0045075	Sparse eyebrow	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0045075	HP:0045075	Sparse eyebrow	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0045075	HP:0045075	Sparse eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0045075	HP:0045075	Sparse eyebrow	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0045075	HP:0045075	Sparse eyebrow	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0045075	HP:0045075	Sparse eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0045075	HP:0045075	Sparse eyebrow	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0045075	HP:0045075	Sparse eyebrow	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0045075	HP:0045075	Sparse eyebrow	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0045075	HP:0045075	Sparse eyebrow	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0045075	HP:0045075	Sparse eyebrow	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0045075	HP:0045075	Sparse eyebrow	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0045075	HP:0045075	Sparse eyebrow	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0045075	HP:0045075	Sparse eyebrow	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0045075	HP:0045075	Sparse eyebrow	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional	71
HP:0045075	HP:0045075	Sparse eyebrow	0	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	HP:0040283 - Occasional	4
HP:0045075	HP:0045075	Sparse eyebrow	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0045075	HP:0045075	Sparse eyebrow	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0045075	HP:0045075	Sparse eyebrow	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0045075	HP:0045075	Sparse eyebrow	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0045075	HP:0025325	Sparse medial eyebrow	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.	53
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional	2
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional	1
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional	5
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional	12
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional	8
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0045075	HP:0025325	Sparse medial eyebrow	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	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:0045075	HP:0025325	Sparse medial eyebrow	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0045075	HP:0025325	Sparse medial eyebrow	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0045075	HP:0025325	Sparse medial eyebrow	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0045075	HP:0005338	Sparse lateral eyebrow	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS

Genes (132) :AARS1 ALX1 ALX4 ANTXR1 APCDD1 ATAD3A ATR B4GALT7 BANF1 BRF1 CDC42 CDC42BPB CDH3 CHST3 CLDN1 COG6 COL11A1 CRIPT CWC27 DLX4 DOLK DPH1 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD FIG4 GAD1 GJA1 GJB2 GJB6 GNPTAB GTPBP2 H3-3A H4C5 HDAC4 HECW2 HEPHL1 HERC1 HNRNPK HRURF IRX5 ITGA3 JUP KANK2 KAT5 KAT6A KDM1A KDM6A KIFBP KMT2D KMT5B KRT17 KRT25 KRT71 KRT74 LARP7 LIG4 LIPH LMBRD2 LMNA LPAR6 LRP1 LSS LZTR1 MAN1B1 MAPKAPK5 MARS1 MBTPS2 MED12 MED12L MED25 MEGF8 MEIS2 MESD MTX2 NAA10 NECTIN1 NF1 NFIB NSD1 NSUN2 NUP188 ODC1 PIGK PLXNA1 POLR3A PPP1CB PPP2R3C PQBP1 PURA RAF1 RECQL4 RIN2 RMRP RNU4ATAC RPL21 RPS28 SIAH1 SMARCA2 SMS SNRPE SON SOS1 SOS2 SPINK5 SPOP SPRED2 ST14 STAG2 TBCD TBX3 TCF4 THUMPD1 TMEM147 TP63 TRPS1 TWIST2 UBE3B USB1 VAC14 WDR26 WDR35 WLS WNT10A WNT10B YY1 ZMPSTE24

Diseases (159) :OMIM:619691 ORPHA:306542 OMIM:613451 ORPHA:2067 OMIM:230740 OMIM:605389 ORPHA:55654 OMIM:618810 OMIM:614564 ORPHA:75496 OMIM:614008 ORPHA:444072 OMIM:616202 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:225280 ORPHA:263463 OMIM:143095 ORPHA:59303 ORPHA:363523 ORPHA:560 OMIM:615789 OMIM:250410 OMIM:616788 OMIM:610768 ORPHA:459061 OMIM:616901 OMIM:620070 OMIM:613102 OMIM:607903 OMIM:607655 OMIM:302960 ORPHA:35173 OMIM:305100 OMIM:129490 OMIM:224900 OMIM:614941 OMIM:216340 ORPHA:3472 OMIM:619124 ORPHA:1010 OMIM:104100 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:252500 OMIM:617988 OMIM:619720 OMIM:619950 ORPHA:1001 OMIM:617268 OMIM:261990 OMIM:617011 ORPHA:457359 OMIM:616580 OMIM:146550 OMIM:611174 OMIM:614748 OMIM:601214 OMIM:616099 OMIM:619103 OMIM:616268 ORPHA:477993 ORPHA:2322 OMIM:147920 OMIM:300867 ORPHA:66629 OMIM:617788 OMIM:167210 ORPHA:170 OMIM:614929 ORPHA:319671 ORPHA:235 OMIM:604379 OMIM:619694 ORPHA:1662 OMIM:278150 OMIM:604093 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:614202 OMIM:619869 OMIM:619692 OMIM:308800 OMIM:300895 OMIM:618872 ORPHA:464738 OMIM:614976 OMIM:600987 OMIM:618644 OMIM:619127 OMIM:300855 OMIM:225060 ORPHA:3253 ORPHA:139474 OMIM:618286 OMIM:117550 OMIM:618804 ORPHA:544488 OMIM:618879 OMIM:619955 OMIM:264090 OMIM:617506 OMIM:618419 OMIM:309500 ORPHA:314655 OMIM:611553 OMIM:268400 OMIM:613075 ORPHA:175 OMIM:250250 OMIM:210710 OMIM:606164 OMIM:619314 OMIM:619293 OMIM:601358 OMIM:309583 ORPHA:3063 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 OMIM:256500 ORPHA:634 OMIM:618829 OMIM:619745 OMIM:602400 ORPHA:521258 ORPHA:496641 OMIM:617193 OMIM:181450 OMIM:610954 OMIM:619989 OMIM:620075 OMIM:604292 ORPHA:1896 ORPHA:69085 OMIM:129400 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:209885 ORPHA:1807 OMIM:244450 OMIM:604173 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:619648 OMIM:257980 OMIM:150400 OMIM:617073 OMIM:617557 ORPHA:506358 OMIM:275210

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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