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 hair quantity (HP:0011362)

Parent Node:
Absent hair (HP:0002298)

..Starting node
..Absent facial hair (HP:0002550)

Term ID:

2550

Name:

Absent facial hair

Synonym:

Absent facial hair

Definition:

Absence of facial hair.

Comments:

Reference:

HP:0002550

Genes and Diseases:

Child Nodes:

........

Absent eyelashes (HP:0000561)

................... HP:0007646 Absent lower eyelashes
................... HP:0007708 Absent inner eyelashes
................... HP:0040056 Absent upper eyelashes

Sister Nodes:

Absent axillary hair (HP:0002221)

Absent eyebrow (HP:0002223)

Absent pubic hair (HP:0002555)

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:0002550	HP:0002550	Absent facial hair	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002550	HP:0002550	Absent facial hair	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0002550	HP:0002550	Absent facial hair	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002550	HP:0002550	Absent facial hair	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002550	HP:0002550	Absent facial hair	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0002550	HP:0002550	Absent facial hair	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0002550	HP:0002550	Absent facial hair	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002550	HP:0002550	Absent facial hair	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0002550	HP:0002550	Absent facial hair	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0002550	HP:0002550	Absent facial hair	0	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0002550	HP:0002550	Absent facial hair	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis		106
HP:0002550	HP:0002550	Absent facial hair	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002550	HP:0002550	Absent facial hair	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0002550	HP:0002550	Absent facial hair	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0002550	HP:0002550	Absent facial hair	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0002550	HP:0002550	Absent facial hair	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0002550	HP:0002550	Absent facial hair	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0002550	HP:0002550	Absent facial hair	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0002550	HP:0002550	Absent facial hair	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0002550	HP:0002550	Absent facial hair	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0002550	HP:0002550	Absent facial hair	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0002550	HP:0002550	Absent facial hair	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002550	HP:0002550	Absent facial hair	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002550	HP:0002550	Absent facial hair	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0002550	HP:0002550	Absent facial hair	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0002550	HP:0002550	Absent facial hair	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0002550	HP:0002550	Absent facial hair	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002550	HP:0002550	Absent facial hair	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002550	HP:0002550	Absent facial hair	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002550	HP:0002550	Absent facial hair	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002550	HP:0002550	Absent facial hair	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0002550	HP:0002550	Absent facial hair	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0002550	HP:0002550	Absent facial hair	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0002550	HP:0002550	Absent facial hair	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0002550	HP:0002550	Absent facial hair	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0002550	HP:0002550	Absent facial hair	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0002550	HP:0002550	Absent facial hair	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002550	HP:0002550	Absent facial hair	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002550	HP:0002550	Absent facial hair	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002550	HP:0002550	Absent facial hair	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0002550	HP:0000561	Absent eyelashes	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0002550	HP:0000561	Absent eyelashes	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0002550	HP:0000561	Absent eyelashes	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002550	HP:0000561	Absent eyelashes	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0002550	HP:0000561	Absent eyelashes	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002550	HP:0000561	Absent eyelashes	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0002550	HP:0000561	Absent eyelashes	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0002550	HP:0000561	Absent eyelashes	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0002550	HP:0000561	Absent eyelashes	1	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0002550	HP:0000561	Absent eyelashes	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002550	HP:0000561	Absent eyelashes	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002550	HP:0000561	Absent eyelashes	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0002550	HP:0000561	Absent eyelashes	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0002550	HP:0000561	Absent eyelashes	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002550	HP:0000561	Absent eyelashes	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional	645
HP:0002550	HP:0000561	Absent eyelashes	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0002550	HP:0000561	Absent eyelashes	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002550	HP:0000561	Absent eyelashes	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0002550	HP:0000561	Absent eyelashes	1	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:0002550	HP:0000561	Absent eyelashes	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002550	HP:0000561	Absent eyelashes	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002550	HP:0000561	Absent eyelashes	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0002550	HP:0000561	Absent eyelashes	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0002550	HP:0000561	Absent eyelashes	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0002550	HP:0000561	Absent eyelashes	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002550	HP:0000561	Absent eyelashes	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002550	HP:0000561	Absent eyelashes	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0002550	HP:0000561	Absent eyelashes	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002550	HP:0000561	Absent eyelashes	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0002550	HP:0000561	Absent eyelashes	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0002550	HP:0000561	Absent eyelashes	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0002550	HP:0000561	Absent eyelashes	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0002550	HP:0000561	Absent eyelashes	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0002550	HP:0000561	Absent eyelashes	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0002550	HP:0000561	Absent eyelashes	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0002550	HP:0000561	Absent eyelashes	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002550	HP:0000561	Absent eyelashes	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0002550	HP:0040056	Absent upper eyelashes	2	CL E G H
HP:0002550	HP:0007708	Absent inner eyelashes	2	CL E G H
HP:0002550	HP:0007646	Absent lower eyelashes	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0002550	HP:0007646	Absent lower eyelashes	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7

Genes (34) :ANAPC1 AR BRAF CWC27 DSP EDA EDARADD FRAS1 GJB2 HOXC13 HR JUP KRT85 LMNA LRP1 MBTPS2 MTX2 NECTIN4 ODC1 PHGDH PKP1 POLR1B POLR1C POLR1D POLR3A RECQL4 RIPK4 SF3B4 SOX18 TCOF1 TP63 TWIST2 ZBTB20 ZMPSTE24

Diseases (35) :OMIM:618625 OMIM:300068 OMIM:115150 ORPHA:166035 ORPHA:158687 OMIM:305100 OMIM:614941 OMIM:219000 OMIM:602540 OMIM:614931 ORPHA:701 OMIM:203655 OMIM:602032 ORPHA:363618 ORPHA:90153 OMIM:604093 OMIM:308205 OMIM:613573 ORPHA:544488 OMIM:256520 OMIM:604536 ORPHA:861 OMIM:264090 OMIM:268400 OMIM:263650 OMIM:154400 OMIM:607823 OMIM:137940 ORPHA:69735 OMIM:106260 ORPHA:920 OMIM:200110 OMIM:227260 OMIM:259050 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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