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:
Absent hair (HP:0002298)

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

..Starting node
..Absent eyebrow (HP:0002223)

Term ID:

2223

Name:

Absent eyebrow

Synonym:

Absent eyebrow; Absent eyebrows; Agenesis of eyebrows; Aplasia of eyebrows; Failure of development of eyebrows; Loss of eyebrows; Missing eyebrows

Definition:

Absence of the eyebrow.

Comments:

Reference:

HP:0002223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sparse eyebrow (HP:0045075)

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:0002223	HP:0002223	Absent eyebrow	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0002223	HP:0002223	Absent eyebrow	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002223	HP:0002223	Absent eyebrow	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0002223	HP:0002223	Absent eyebrow	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002223	HP:0002223	Absent eyebrow	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent	87
HP:0002223	HP:0002223	Absent eyebrow	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002223	HP:0002223	Absent eyebrow	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0002223	HP:0002223	Absent eyebrow	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002223	HP:0002223	Absent eyebrow	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002223	HP:0002223	Absent eyebrow	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002223	HP:0002223	Absent eyebrow	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0002223	HP:0002223	Absent eyebrow	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002223	HP:0002223	Absent eyebrow	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002223	HP:0002223	Absent eyebrow	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002223	HP:0002223	Absent eyebrow	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0002223	HP:0002223	Absent eyebrow	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0002223	HP:0002223	Absent eyebrow	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0002223	HP:0002223	Absent eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0002223	HP:0002223	Absent eyebrow	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002223	HP:0002223	Absent eyebrow	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0002223	HP:0002223	Absent eyebrow	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0002223	HP:0002223	Absent eyebrow	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002223	HP:0002223	Absent eyebrow	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002223	HP:0002223	Absent eyebrow	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0002223	HP:0002223	Absent eyebrow	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0002223	HP:0002223	Absent eyebrow	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002223	HP:0002223	Absent eyebrow	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002223	HP:0002223	Absent eyebrow	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002223	HP:0002223	Absent eyebrow	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0002223	HP:0002223	Absent eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0002223	HP:0002223	Absent eyebrow	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0002223	HP:0002223	Absent eyebrow	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0002223	HP:0002223	Absent eyebrow	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0002223	HP:0002223	Absent eyebrow	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0002223	HP:0002223	Absent eyebrow	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0002223	HP:0002223	Absent eyebrow	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0002223	HP:0002223	Absent eyebrow	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0002223	HP:0002223	Absent eyebrow	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0002223	HP:0002223	Absent eyebrow	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (32) :ALX1 ANAPC1 AXIN2 BRAF CDH3 CWC27 DSP EDA EDARADD FRAS1 GJA1 GJB6 HR JUP KRAS KRT85 LMNA MAP2K2 MBTPS2 ODC1 PI4KA PKP1 POLR3A RECQL4 RIPK4 SMARCA2 SOX18 TTC7A TWIST2 UBE3B UROS ZMPSTE24

Diseases (36) :OMIM:613456 OMIM:618625 OMIM:608615 OMIM:115150 ORPHA:1897 ORPHA:166035 ORPHA:158687 OMIM:305100 OMIM:614941 OMIM:219000 ORPHA:1010 ORPHA:189 ORPHA:701 OMIM:203655 OMIM:615278 OMIM:602032 ORPHA:740 ORPHA:363618 OMIM:615280 ORPHA:2273 OMIM:308205 OMIM:619075 ORPHA:544488 ORPHA:436252 OMIM:604536 OMIM:264090 OMIM:268400 OMIM:263650 OMIM:601358 OMIM:607823 ORPHA:69735 OMIM:137940 ORPHA:920 OMIM:200110 ORPHA:2707 OMIM:263700

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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