Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Scarring (HP:0100699)

..Starting node
..Atypical scarring of skin (HP:0000987)

Term ID:

987

Name:

Atypical scarring of skin

Synonym:

Atypical scarring; Atypical scarring of skin

Definition:

Atypically scarred skin .

Comments:

Reference:

HP:0000987

Genes and Diseases:

Child Nodes:

........

Atrophic scars (HP:0001075)

................... HP:0001073 Cigarette-paper scars
................... HP:0031158 Widened atrophic scar

........

Scarring alopecia of scalp (HP:0004552)

........

Keloids (HP:0010562)

........

Atrophodermia vermiculata (HP:0100837)

Sister Nodes:

Chorioretinal scar (HP:0007777)

Corneal scarring (HP:0000559)

Macular scar (HP:0200056)

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:0000987	HP:0000987	Atypical scarring of skin	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000987	HP:0000987	Atypical scarring of skin	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000987	HP:0000987	Atypical scarring of skin	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000987	HP:0000987	Atypical scarring of skin	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000987	HP:0000987	Atypical scarring of skin	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000987	HP:0000987	Atypical scarring of skin	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000987	HP:0000987	Atypical scarring of skin	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000987	HP:0000987	Atypical scarring of skin	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0000987	HP:0000987	Atypical scarring of skin	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0000987	HP:0000987	Atypical scarring of skin	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000987	HP:0000987	Atypical scarring of skin	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000987	HP:0000987	Atypical scarring of skin	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000987	HP:0000987	Atypical scarring of skin	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000987	HP:0000987	Atypical scarring of skin	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0000987	HP:0000987	Atypical scarring of skin	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0000987	HP:0000987	Atypical scarring of skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0000987	HP:0000987	Atypical scarring of skin	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	29
HP:0000987	HP:0000987	Atypical scarring of skin	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000987	HP:0000987	Atypical scarring of skin	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000987	HP:0000987	Atypical scarring of skin	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000987	HP:0000987	Atypical scarring of skin	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000987	HP:0000987	Atypical scarring of skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0000987	HP:0000987	Atypical scarring of skin	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0000987	HP:0000987	Atypical scarring of skin	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0000987	HP:0000987	Atypical scarring of skin	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000987	HP:0000987	Atypical scarring of skin	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0000987	HP:0000987	Atypical scarring of skin	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000987	HP:0000987	Atypical scarring of skin	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000987	HP:0000987	Atypical scarring of skin	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000987	HP:0000987	Atypical scarring of skin	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000987	HP:0000987	Atypical scarring of skin	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0000987	HP:0000987	Atypical scarring of skin	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000987	HP:0000987	Atypical scarring of skin	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000987	HP:0000987	Atypical scarring of skin	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare	129
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040281 - Very frequent	263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent	263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0000987	HP:0000987	Atypical scarring of skin	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0000987	HP:0000987	Atypical scarring of skin	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000987	HP:0000987	Atypical scarring of skin	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000987	HP:0000987	Atypical scarring of skin	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000987	HP:0000987	Atypical scarring of skin	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000987	HP:0000987	Atypical scarring of skin	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000987	HP:0000987	Atypical scarring of skin	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0000987	HP:0000987	Atypical scarring of skin	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000987	HP:0000987	Atypical scarring of skin	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000987	HP:0000987	Atypical scarring of skin	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000987	HP:0000987	Atypical scarring of skin	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000987	HP:0000987	Atypical scarring of skin	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000987	HP:0000987	Atypical scarring of skin	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000987	HP:0000987	Atypical scarring of skin	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0000987	HP:0000987	Atypical scarring of skin	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000987	HP:0000987	Atypical scarring of skin	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000987	HP:0000987	Atypical scarring of skin	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000987	HP:0000987	Atypical scarring of skin	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000987	HP:0000987	Atypical scarring of skin	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0000987	HP:0000987	Atypical scarring of skin	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0000987	HP:0000987	Atypical scarring of skin	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000987	HP:0000987	Atypical scarring of skin	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000987	HP:0000987	Atypical scarring of skin	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000987	HP:0000987	Atypical scarring of skin	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0000987	HP:0000987	Atypical scarring of skin	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000987	HP:0000987	Atypical scarring of skin	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000987	HP:0000987	Atypical scarring of skin	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000987	HP:0000987	Atypical scarring of skin	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000987	HP:0000987	Atypical scarring of skin	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000987	HP:0000987	Atypical scarring of skin	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000987	HP:0000987	Atypical scarring of skin	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000987	HP:0000987	Atypical scarring of skin	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000987	HP:0000987	Atypical scarring of skin	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000987	HP:0000987	Atypical scarring of skin	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000987	HP:0000987	Atypical scarring of skin	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000987	HP:0000987	Atypical scarring of skin	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000987	HP:0000987	Atypical scarring of skin	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000987	HP:0000987	Atypical scarring of skin	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0000987	HP:0000987	Atypical scarring of skin	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare	124
HP:0000987	HP:0000987	Atypical scarring of skin	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000987	HP:0000987	Atypical scarring of skin	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0000987	HP:0000987	Atypical scarring of skin	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0000987	HP:0000987	Atypical scarring of skin	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0000987	HP:0000987	Atypical scarring of skin	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0000987	HP:0000987	Atypical scarring of skin	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0000987	HP:0000987	Atypical scarring of skin	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000987	HP:0000987	Atypical scarring of skin	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0000987	HP:0000987	Atypical scarring of skin	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000987	HP:0000987	Atypical scarring of skin	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000987	HP:0000987	Atypical scarring of skin	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000987	HP:0000987	Atypical scarring of skin	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0000987	HP:0000987	Atypical scarring of skin	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0000987	HP:0000987	Atypical scarring of skin	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000987	HP:0000987	Atypical scarring of skin	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0000987	HP:0000987	Atypical scarring of skin	0	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial	.	5
HP:0000987	HP:0000987	Atypical scarring of skin	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000987	HP:0000987	Atypical scarring of skin	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0000987	HP:0000987	Atypical scarring of skin	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0000987	HP:0000987	Atypical scarring of skin	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000987	HP:0000987	Atypical scarring of skin	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0000987	HP:0000987	Atypical scarring of skin	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000987	HP:0000987	Atypical scarring of skin	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0000987	HP:0000987	Atypical scarring of skin	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0000987	HP:0000987	Atypical scarring of skin	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0000987	HP:0000987	Atypical scarring of skin	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0000987	HP:0000987	Atypical scarring of skin	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000987	HP:0000987	Atypical scarring of skin	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000987	HP:0000987	Atypical scarring of skin	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000987	HP:0000987	Atypical scarring of skin	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0000987	HP:0000987	Atypical scarring of skin	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0000987	HP:0000987	Atypical scarring of skin	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0000987	HP:0000987	Atypical scarring of skin	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0000987	HP:0000987	Atypical scarring of skin	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0000987	HP:0000987	Atypical scarring of skin	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000987	HP:0000987	Atypical scarring of skin	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000987	HP:0000987	Atypical scarring of skin	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000987	HP:0000987	Atypical scarring of skin	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0000987	HP:0000987	Atypical scarring of skin	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000987	HP:0000987	Atypical scarring of skin	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000987	HP:0000987	Atypical scarring of skin	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0000987	HP:0000987	Atypical scarring of skin	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0000987	HP:0000987	Atypical scarring of skin	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0000987	HP:0000987	Atypical scarring of skin	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000987	HP:0000987	Atypical scarring of skin	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000987	HP:0000987	Atypical scarring of skin	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0000987	HP:0000987	Atypical scarring of skin	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0000987	HP:0000987	Atypical scarring of skin	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0000987	HP:0000987	Atypical scarring of skin	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000987	HP:0000987	Atypical scarring of skin	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000987	HP:0000987	Atypical scarring of skin	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0000987	HP:0000987	Atypical scarring of skin	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000987	HP:0000987	Atypical scarring of skin	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0000987	HP:0000987	Atypical scarring of skin	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000987	HP:0000987	Atypical scarring of skin	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0000987	HP:0000987	Atypical scarring of skin	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000987	HP:0000987	Atypical scarring of skin	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000987	HP:0000987	Atypical scarring of skin	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000987	HP:0000987	Atypical scarring of skin	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0000987	HP:0000987	Atypical scarring of skin	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0000987	HP:0000987	Atypical scarring of skin	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0000987	HP:0000987	Atypical scarring of skin	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0000987	HP:0000987	Atypical scarring of skin	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000987	HP:0000987	Atypical scarring of skin	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0000987	HP:0000987	Atypical scarring of skin	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000987	HP:0000987	Atypical scarring of skin	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000987	HP:0000987	Atypical scarring of skin	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0000987	HP:0000987	Atypical scarring of skin	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0000987	HP:0000987	Atypical scarring of skin	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000987	HP:0000987	Atypical scarring of skin	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0000987	HP:0000987	Atypical scarring of skin	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0000987	HP:0001075	Atrophic scars	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000987	HP:0001075	Atrophic scars	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000987	HP:0001075	Atrophic scars	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000987	HP:0010562	Keloids	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0000987	HP:0010562	Keloids	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0000987	HP:0010562	Keloids	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0000987	HP:0001075	Atrophic scars	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000987	HP:0001075	Atrophic scars	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	29
HP:0000987	HP:0001075	Atrophic scars	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000987	HP:0001075	Atrophic scars	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000987	HP:0001075	Atrophic scars	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	15
HP:0000987	HP:0001075	Atrophic scars	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	7
HP:0000987	HP:0001075	Atrophic scars	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0000987	HP:0001075	Atrophic scars	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000987	HP:0001075	Atrophic scars	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0000987	HP:0001075	Atrophic scars	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0000987	HP:0001075	Atrophic scars	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0000987	HP:0001075	Atrophic scars	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0000987	HP:0001075	Atrophic scars	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0000987	HP:0001075	Atrophic scars	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000987	HP:0001075	Atrophic scars	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0000987	HP:0001075	Atrophic scars	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	HP:0040284 - Very rare	243
HP:0000987	HP:0001075	Atrophic scars	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000987	HP:0001075	Atrophic scars	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000987	HP:0001075	Atrophic scars	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0000987	HP:0001075	Atrophic scars	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000987	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0000987	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000987	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000987	HP:0001075	Atrophic scars	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0000987	HP:0001075	Atrophic scars	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000987	HP:0001075	Atrophic scars	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0000987	HP:0001075	Atrophic scars	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0000987	HP:0001075	Atrophic scars	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0000987	HP:0010562	Keloids	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0000987	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0000987	HP:0010562	Keloids	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000987	HP:0010562	Keloids	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000987	HP:0010562	Keloids	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0000987	HP:0001075	Atrophic scars	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0000987	HP:0001075	Atrophic scars	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent	51
HP:0000987	HP:0010562	Keloids	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000987	HP:0010562	Keloids	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0000987	HP:0001075	Atrophic scars	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent	13
HP:0000987	HP:0010562	Keloids	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000987	HP:0001075	Atrophic scars	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000987	HP:0001075	Atrophic scars	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0000987	HP:0001075	Atrophic scars	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0000987	HP:0001075	Atrophic scars	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0000987	HP:0001075	Atrophic scars	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0000987	HP:0001075	Atrophic scars	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional	110
HP:0000987	HP:0001075	Atrophic scars	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	110
HP:0000987	HP:0001075	Atrophic scars	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0000987	HP:0001075	Atrophic scars	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional	173
HP:0000987	HP:0001075	Atrophic scars	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	173
HP:0000987	HP:0001075	Atrophic scars	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0000987	HP:0001075	Atrophic scars	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0000987	HP:0001075	Atrophic scars	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0000987	HP:0001075	Atrophic scars	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0000987	HP:0001075	Atrophic scars	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0000987	HP:0001075	Atrophic scars	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0000987	HP:0010562	Keloids	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0000987	HP:0001075	Atrophic scars	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent	4
HP:0000987	HP:0010562	Keloids	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000987	HP:0010562	Keloids	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000987	HP:0001075	Atrophic scars	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent	6
HP:0000987	HP:0001075	Atrophic scars	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0000987	HP:0100837	Atrophodermia vermiculata	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000987	HP:0001075	Atrophic scars	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000987	HP:0001075	Atrophic scars	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0000987	HP:0001075	Atrophic scars	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent	105
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000987	HP:0001075	Atrophic scars	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0000987	HP:0001075	Atrophic scars	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0000987	HP:0004552	Scarring alopecia of scalp	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0000987	HP:0031158	Widened atrophic scar	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0000987	HP:0001073	Cigarette-paper scars	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0000987	HP:0001073	Cigarette-paper scars	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0000987	HP:0031158	Widened atrophic scar	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0000987	HP:0001073	Cigarette-paper scars	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24

Genes (148) :ABCA4 ADA2 AEBP1 AGBL5 AHI1 AHR APC ARHGEF18 ARL2BP ARL3 ARL6 ATP7A B3GALT6 B4GALT7 BBS1 BBS2 BEST1 C1R C1S CA4 CARMIL2 CDHR1 CERKL CFAP418 CHST14 CLDN1 CLRN1 CNGA1 CNGB1 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CPOX CRB1 CREBBP CRX CTSC DHDDS DHX38 DSE EBP EP300 EPHB4 ERCC6 ERCC8 EYS FAM161A FERMT1 FKBP14 FLNA FSCN2 GATA1 GJB2 GJB6 GUCA1B HGSNAT IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 IPO8 ITGB4 KIAA1549 KIZ KLHL7 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LEMD3 LRAT LRP1 MAK MAP3K7 MBTPS2 MERTK MMP1 NCSTN NEK2 NLRP1 NR2E3 NRL NTRK1 OCRL OFD1 PCARE PDE6A PDE6B PDE6G PLEC PLOD1 POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RDH12 REEP6 RGR RHO RHOA RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SLC39A13 SLC7A14 SMAD3 SNRNP200 SPATA7 TFAP2A TGFBR1 TGFBR2 TOPORS TTC8 TUB TULP1 UROD UROS USH2A ZNF408 ZNF469 ZNF513

Diseases (87) :ORPHA:791 OMIM:182410 ORPHA:536532 OMIM:618000 OMIM:175100 ORPHA:79665 ORPHA:565 ORPHA:198 ORPHA:536467 ORPHA:75496 OMIM:130070 OMIM:130080 ORPHA:75392 OMIM:618131 OMIM:601776 ORPHA:2953 ORPHA:59303 ORPHA:610 OMIM:616471 OMIM:619787 ORPHA:79402 ORPHA:251393 ORPHA:287 OMIM:130060 ORPHA:230851 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:619329 OMIM:130010 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:131705 ORPHA:79273 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:678 ORPHA:35173 ORPHA:353284 ORPHA:90186 OMIM:133540 OMIM:216400 ORPHA:2908 ORPHA:300179 ORPHA:1826 ORPHA:79277 OMIM:602540 ORPHA:477 ORPHA:60030 ORPHA:158684 OMIM:226730 ORPHA:79396 ORPHA:89838 OMIM:131760 ORPHA:79400 OMIM:226700 ORPHA:1306 ORPHA:166119 ORPHA:79100 OMIM:617137 OMIM:308800 OMIM:142690 OMIM:618803 ORPHA:642 ORPHA:534 OMIM:226670 ORPHA:1900 OMIM:618727 OMIM:612350 ORPHA:284984 OMIM:613795 ORPHA:1297 OMIM:113620 ORPHA:95159 OMIM:263700 OMIM:229200

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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