Human Phenotype Ontology

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:0002298	HP:0002298	Absent hair	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0002298	HP:0002298	Absent hair	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002298	HP:0002298	Absent hair	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002298	HP:0002298	Absent hair	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0002298	HP:0002298	Absent hair	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0002298	HP:0002298	Absent hair	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0002298	HP:0002298	Absent hair	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002298	HP:0002298	Absent hair	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome		87
HP:0002298	HP:0002298	Absent hair	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002298	HP:0002298	Absent hair	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0002298	HP:0002298	Absent hair	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0002298	HP:0002298	Absent hair	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0002298	HP:0002298	Absent hair	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0002298	HP:0002298	Absent hair	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002298	HP:0002298	Absent hair	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0002298	HP:0002298	Absent hair	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0002298	HP:0002298	Absent hair	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0002298	HP:0002298	Absent hair	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0002298	HP:0002298	Absent hair	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0002298	HP:0002298	Absent hair	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0002298	HP:0002298	Absent hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002298	HP:0002298	Absent hair	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0002298	HP:0002298	Absent hair	0	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0002298	HP:0002298	Absent hair	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis		106
HP:0002298	HP:0002298	Absent hair	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0002298	Absent hair	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0002298	HP:0002298	Absent hair	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0002298	HP:0002298	Absent hair	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0002298	HP:0002298	Absent hair	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0002298	HP:0002298	Absent hair	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0002298	HP:0002298	Absent hair	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0002298	HP:0002298	Absent hair	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0002298	HP:0002298	Absent hair	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0002298	HP:0002298	Absent hair	0	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0002298	HP:0002298	Absent hair	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0002298	HP:0002298	Absent hair	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0002298	HP:0002298	Absent hair	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0002298	HP:0002298	Absent hair	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0002298	HP:0002298	Absent hair	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0002298	HP:0002298	Absent hair	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0002298	HP:0002298	Absent hair	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002298	HP:0002298	Absent hair	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0002298	HP:0002298	Absent hair	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002298	HP:0002298	Absent hair	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0002298	HP:0002298	Absent hair	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002298	HP:0002298	Absent hair	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002298	HP:0002298	Absent hair	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0002298	HP:0002298	Absent hair	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0002298	HP:0002298	Absent hair	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002298	HP:0002298	Absent hair	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002298	HP:0002298	Absent hair	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002298	HP:0002298	Absent hair	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002298	HP:0002298	Absent hair	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002298	HP:0002298	Absent hair	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0002298	HP:0002298	Absent hair	0	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11		2
HP:0002298	HP:0002298	Absent hair	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0002298	HP:0002298	Absent hair	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0002298	HP:0002298	Absent hair	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0002298	HP:0002298	Absent hair	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0002298	HP:0002298	Absent hair	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0002298	HP:0002298	Absent hair	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0002298	HP:0002298	Absent hair	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0002298	HP:0002298	Absent hair	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0002298	HP:0002298	Absent hair	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002298	HP:0002298	Absent hair	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002298	HP:0002298	Absent hair	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0002298	HP:0002298	Absent hair	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0002298	HP:0002298	Absent hair	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0002298	HP:0002298	Absent hair	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0002298	HP:0002298	Absent hair	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0002298	HP:0002223	Absent eyebrow	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0002298	HP:0002223	Absent eyebrow	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002298	HP:0002550	Absent facial hair	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002298	HP:0002221	Absent axillary hair	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.	39
HP:0002298	HP:0002550	Absent facial hair	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0002298	HP:0002555	Absent pubic hair	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0002298	HP:0002221	Absent axillary hair	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0002298	HP:0002223	Absent eyebrow	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0002298	HP:0002550	Absent facial hair	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002298	HP:0002223	Absent eyebrow	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002298	HP:0002223	Absent eyebrow	1	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent	87
HP:0002298	HP:0002550	Absent facial hair	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002298	HP:0002223	Absent eyebrow	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002298	HP:0002555	Absent pubic hair	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0002298	HP:0002221	Absent axillary hair	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0002298	HP:0002550	Absent facial hair	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0002298	HP:0002223	Absent eyebrow	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0002298	HP:0002223	Absent eyebrow	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002298	HP:0002550	Absent facial hair	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0002298	HP:0002550	Absent facial hair	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002298	HP:0002223	Absent eyebrow	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002298	HP:0002221	Absent axillary hair	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0002298	HP:0002555	Absent pubic hair	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0002298	HP:0002223	Absent eyebrow	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002298	HP:0002550	Absent facial hair	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0002298	HP:0002223	Absent eyebrow	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0002298	HP:0002550	Absent facial hair	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0002298	HP:0002221	Absent axillary hair	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0002298	HP:0002555	Absent pubic hair	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0002298	HP:0002221	Absent axillary hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0002298	HP:0002555	Absent pubic hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0002298	HP:0002223	Absent eyebrow	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002298	HP:0002555	Absent pubic hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002298	HP:0002221	Absent axillary hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002298	HP:0002555	Absent pubic hair	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0002298	HP:0002550	Absent facial hair	1	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0002298	HP:0002550	Absent facial hair	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis		106
HP:0002298	HP:0002223	Absent eyebrow	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002298	HP:0002221	Absent axillary hair	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0002555	Absent pubic hair	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0002223	Absent eyebrow	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0002550	Absent facial hair	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0002221	Absent axillary hair	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0002298	HP:0002555	Absent pubic hair	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0002298	HP:0002550	Absent facial hair	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0002298	HP:0002223	Absent eyebrow	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0002298	HP:0002223	Absent eyebrow	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0002298	HP:0002223	Absent eyebrow	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0002298	HP:0002550	Absent facial hair	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0002298	HP:0002223	Absent eyebrow	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0002298	HP:0002223	Absent eyebrow	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002298	HP:0002550	Absent facial hair	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0002298	HP:0002550	Absent facial hair	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0002298	HP:0002550	Absent facial hair	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0002298	HP:0002221	Absent axillary hair	1	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0002298	HP:0002223	Absent eyebrow	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0002298	HP:0002223	Absent eyebrow	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0002298	HP:0002223	Absent eyebrow	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002298	HP:0002550	Absent facial hair	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0002298	HP:0002550	Absent facial hair	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0002298	HP:0002550	Absent facial hair	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0002298	HP:0002555	Absent pubic hair	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0002298	HP:0002223	Absent eyebrow	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002298	HP:0002550	Absent facial hair	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0002298	HP:0002223	Absent eyebrow	1	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:0002298	HP:0002550	Absent facial hair	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002298	HP:0002223	Absent eyebrow	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0002298	HP:0002550	Absent facial hair	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002298	HP:0002223	Absent eyebrow	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002298	HP:0002550	Absent facial hair	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002298	HP:0002550	Absent facial hair	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0002298	HP:0002550	Absent facial hair	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0002298	HP:0002223	Absent eyebrow	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002298	HP:0002550	Absent facial hair	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002298	HP:0002221	Absent axillary hair	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0002298	HP:0002550	Absent facial hair	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002298	HP:0002223	Absent eyebrow	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002298	HP:0002223	Absent eyebrow	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0002298	HP:0002550	Absent facial hair	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002298	HP:0002550	Absent facial hair	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002298	HP:0002223	Absent eyebrow	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0002298	HP:0002221	Absent axillary hair	1	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.	2
HP:0002298	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0002298	HP:0002550	Absent facial hair	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0002298	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0002298	HP:0002550	Absent facial hair	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0002298	HP:0002223	Absent eyebrow	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0002298	HP:0002550	Absent facial hair	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0002298	HP:0002221	Absent axillary hair	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040281 - Very frequent	100
HP:0002298	HP:0002550	Absent facial hair	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0002298	HP:0002550	Absent facial hair	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0002298	HP:0002223	Absent eyebrow	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0002298	HP:0002223	Absent eyebrow	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0002298	HP:0002550	Absent facial hair	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0002298	HP:0002550	Absent facial hair	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002298	HP:0002223	Absent eyebrow	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0002298	HP:0002550	Absent facial hair	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002298	HP:0002223	Absent eyebrow	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0002298	HP:0002223	Absent eyebrow	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0002298	HP:0002221	Absent axillary hair	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002298	HP:0002550	Absent facial hair	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002298	HP:0002223	Absent eyebrow	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0002298	HP:0002550	Absent facial hair	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0002298	HP:0000561	Absent eyelashes	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002298	HP:0000561	Absent eyelashes	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0002298	HP:0000561	Absent eyelashes	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002298	HP:0000561	Absent eyelashes	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0002298	HP:0000561	Absent eyelashes	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002298	HP:0000561	Absent eyelashes	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002298	HP:0000561	Absent eyelashes	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002298	HP:0000561	Absent eyelashes	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0002298	HP:0000561	Absent eyelashes	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0002298	HP:0000561	Absent eyelashes	2	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002298	HP:0000561	Absent eyelashes	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002298	HP:0000561	Absent eyelashes	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0002298	HP:0000561	Absent eyelashes	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0002298	HP:0000561	Absent eyelashes	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002298	HP:0000561	Absent eyelashes	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional	645
HP:0002298	HP:0000561	Absent eyelashes	2	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0002298	HP:0000561	Absent eyelashes	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002298	HP:0000561	Absent eyelashes	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0002298	HP:0000561	Absent eyelashes	2	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:0002298	HP:0000561	Absent eyelashes	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002298	HP:0000561	Absent eyelashes	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002298	HP:0000561	Absent eyelashes	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0002298	HP:0000561	Absent eyelashes	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0002298	HP:0000561	Absent eyelashes	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0002298	HP:0000561	Absent eyelashes	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002298	HP:0000561	Absent eyelashes	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002298	HP:0000561	Absent eyelashes	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0002298	HP:0000561	Absent eyelashes	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002298	HP:0000561	Absent eyelashes	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0002298	HP:0000561	Absent eyelashes	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0002298	HP:0000561	Absent eyelashes	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0002298	HP:0000561	Absent eyelashes	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0002298	HP:0000561	Absent eyelashes	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0002298	HP:0000561	Absent eyelashes	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0002298	HP:0000561	Absent eyelashes	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0002298	HP:0000561	Absent eyelashes	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002298	HP:0000561	Absent eyelashes	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0002298	HP:0007708	Absent inner eyelashes	3	CL E G H
HP:0002298	HP:0040056	Absent upper eyelashes	3	CL E G H
HP:0002298	HP:0007646	Absent lower eyelashes	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002298	HP:0007646	Absent lower eyelashes	3	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7