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:0004334	HP:0004334	Dermal atrophy	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0004334	HP:0004334	Dermal atrophy	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	11
HP:0004334	HP:0004334	Dermal atrophy	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004334	HP:0004334	Dermal atrophy	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004334	HP:0004334	Dermal atrophy	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0004334	HP:0004334	Dermal atrophy	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0004334	HP:0004334	Dermal atrophy	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0004334	HP:0004334	Dermal atrophy	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0004334	HP:0004334	Dermal atrophy	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0004334	HP:0004334	Dermal atrophy	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0004334	HP:0004334	Dermal atrophy	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0004334	HP:0004334	Dermal atrophy	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0004334	HP:0004334	Dermal atrophy	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0004334	HP:0004334	Dermal atrophy	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0004334	HP:0004334	Dermal atrophy	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0004334	HP:0004334	Dermal atrophy	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0004334	HP:0004334	Dermal atrophy	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0004334	HP:0004334	Dermal atrophy	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0004334	HP:0004334	Dermal atrophy	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0004334	HP:0004334	Dermal atrophy	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004334	HP:0004334	Dermal atrophy	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0004334	HP:0004334	Dermal atrophy	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0004334	HP:0004334	Dermal atrophy	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0004334	HP:0004334	Dermal atrophy	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0004334	HP:0004334	Dermal atrophy	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0004334	HP:0004334	Dermal atrophy	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0004334	HP:0004334	Dermal atrophy	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0004334	HP:0004334	Dermal atrophy	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0004334	HP:0004334	Dermal atrophy	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0004334	HP:0004334	Dermal atrophy	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004334	HP:0004334	Dermal atrophy	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0004334	HP:0004334	Dermal atrophy	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004334	HP:0004334	Dermal atrophy	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0004334	HP:0004334	Dermal atrophy	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004334	HP:0004334	Dermal atrophy	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004334	HP:0004334	Dermal atrophy	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0004334	HP:0004334	Dermal atrophy	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0004334	HP:0004334	Dermal atrophy	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0004334	HP:0004334	Dermal atrophy	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0004334	HP:0004334	Dermal atrophy	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa		263
HP:0004334	HP:0004334	Dermal atrophy	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0004334	HP:0004334	Dermal atrophy	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0004334	HP:0004334	Dermal atrophy	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0004334	HP:0004334	Dermal atrophy	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0004334	HP:0004334	Dermal atrophy	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0004334	HP:0004334	Dermal atrophy	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0004334	HP:0004334	Dermal atrophy	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0004334	HP:0004334	Dermal atrophy	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0004334	HP:0004334	Dermal atrophy	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0004334	HP:0004334	Dermal atrophy	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0004334	HP:0004334	Dermal atrophy	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	65
HP:0004334	HP:0004334	Dermal atrophy	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0004334	HP:0004334	Dermal atrophy	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0004334	HP:0004334	Dermal atrophy	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0004334	HP:0004334	Dermal atrophy	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0004334	HP:0004334	Dermal atrophy	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004334	HP:0004334	Dermal atrophy	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0004334	HP:0004334	Dermal atrophy	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004334	HP:0004334	Dermal atrophy	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0004334	HP:0004334	Dermal atrophy	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0004334	HP:0004334	Dermal atrophy	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0004334	HP:0004334	Dermal atrophy	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0004334	HP:0004334	Dermal atrophy	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0004334	HP:0004334	Dermal atrophy	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0004334	HP:0004334	Dermal atrophy	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0004334	HP:0004334	Dermal atrophy	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0004334	HP:0004334	Dermal atrophy	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0004334	HP:0004334	Dermal atrophy	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0004334	HP:0004334	Dermal atrophy	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0004334	HP:0004334	Dermal atrophy	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0004334	HP:0004334	Dermal atrophy	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0004334	HP:0004334	Dermal atrophy	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0004334	HP:0004334	Dermal atrophy	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0004334	HP:0004334	Dermal atrophy	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0004334	HP:0004334	Dermal atrophy	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0004334	HP:0004334	Dermal atrophy	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0004334	HP:0004334	Dermal atrophy	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0004334	HP:0004334	Dermal atrophy	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0004334	HP:0004334	Dermal atrophy	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0004334	HP:0004334	Dermal atrophy	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0004334	HP:0004334	Dermal atrophy	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0004334	HP:0004334	Dermal atrophy	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0004334	HP:0004334	Dermal atrophy	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0004334	HP:0004334	Dermal atrophy	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0004334	HP:0004334	Dermal atrophy	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0004334	HP:0004334	Dermal atrophy	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0004334	HP:0004334	Dermal atrophy	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0004334	HP:0004334	Dermal atrophy	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0004334	HP:0004334	Dermal atrophy	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional	33
HP:0004334	HP:0004334	Dermal atrophy	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0004334	HP:0004334	Dermal atrophy	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0004334	HP:0004334	Dermal atrophy	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0004334	HP:0004334	Dermal atrophy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0004334	HP:0004334	Dermal atrophy	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0004334	HP:0004334	Dermal atrophy	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	26
HP:0004334	HP:0004334	Dermal atrophy	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0004334	HP:0004334	Dermal atrophy	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0004334	HP:0004334	Dermal atrophy	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0004334	HP:0004334	Dermal atrophy	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0004334	HP:0004334	Dermal atrophy	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent	759
HP:0004334	HP:0004334	Dermal atrophy	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0004334	HP:0004334	Dermal atrophy	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0004334	HP:0004334	Dermal atrophy	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004334	HP:0004334	Dermal atrophy	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0004334	HP:0004334	Dermal atrophy	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0004334	HP:0004334	Dermal atrophy	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0004334	HP:0004334	Dermal atrophy	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004334	HP:0004334	Dermal atrophy	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0004334	HP:0004334	Dermal atrophy	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0004334	HP:0004334	Dermal atrophy	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0004334	HP:0004334	Dermal atrophy	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0004334	HP:0004334	Dermal atrophy	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0004334	HP:0004334	Dermal atrophy	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0004334	HP:0004334	Dermal atrophy	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0004334	HP:0004334	Dermal atrophy	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0004334	HP:0004334	Dermal atrophy	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	77
HP:0004334	HP:0004334	Dermal atrophy	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0004334	HP:0004334	Dermal atrophy	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0004334	HP:0004334	Dermal atrophy	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004334	HP:0004334	Dermal atrophy	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004334	HP:0004334	Dermal atrophy	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional	7
HP:0004334	HP:0004334	Dermal atrophy	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0004334	HP:0004334	Dermal atrophy	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0004334	HP:0004334	Dermal atrophy	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0004334	HP:0004334	Dermal atrophy	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0004334	HP:0004334	Dermal atrophy	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	238
HP:0004334	HP:0004334	Dermal atrophy	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0004334	HP:0004334	Dermal atrophy	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004334	HP:0004334	Dermal atrophy	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0004334	HP:0004334	Dermal atrophy	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0004334	HP:0004334	Dermal atrophy	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004334	HP:0004334	Dermal atrophy	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0004334	HP:0004334	Dermal atrophy	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	60
HP:0004334	HP:0004334	Dermal atrophy	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0004334	HP:0004334	Dermal atrophy	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0004334	HP:0004334	Dermal atrophy	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0004334	HP:0004334	Dermal atrophy	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0004334	HP:0004334	Dermal atrophy	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0004334	HP:0004334	Dermal atrophy	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0004334	HP:0004334	Dermal atrophy	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0004334	HP:0004334	Dermal atrophy	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0004334	HP:0004334	Dermal atrophy	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0004334	HP:0004334	Dermal atrophy	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0004334	HP:0004334	Dermal atrophy	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0004334	HP:0004334	Dermal atrophy	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0004334	HP:0004334	Dermal atrophy	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0004334	HP:0004334	Dermal atrophy	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0004334	HP:0004334	Dermal atrophy	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0004334	HP:0004334	Dermal atrophy	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0004334	HP:0004334	Dermal atrophy	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0004334	HP:0001065	Striae distensae	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	415
HP:0004334	HP:0001075	Atrophic scars	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004334	HP:0001075	Atrophic scars	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0004334	HP:0001075	Atrophic scars	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0004334	HP:0001065	Striae distensae	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0004334	HP:0001065	Striae distensae	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0004334	HP:0001065	Striae distensae	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0004334	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:0004334	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:0004334	HP:0001075	Atrophic scars	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0004334	HP:0001065	Striae distensae	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0004334	HP:0001075	Atrophic scars	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0004334	HP:0001075	Atrophic scars	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	15
HP:0004334	HP:0001075	Atrophic scars	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	7
HP:0004334	HP:0001075	Atrophic scars	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0004334	HP:0001065	Striae distensae	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0004334	HP:0001065	Striae distensae	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0004334	HP:0001075	Atrophic scars	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0004334	HP:0001075	Atrophic scars	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0004334	HP:0001075	Atrophic scars	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0004334	HP:0001075	Atrophic scars	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0004334	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:0004334	HP:0001065	Striae distensae	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0004334	HP:0001075	Atrophic scars	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0004334	HP:0001075	Atrophic scars	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0004334	HP:0001075	Atrophic scars	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0004334	HP:0001075	Atrophic scars	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004334	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0004334	HP:0001065	Striae distensae	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0004334	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004334	HP:0001065	Striae distensae	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004334	HP:0001075	Atrophic scars	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004334	HP:0001075	Atrophic scars	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0004334	HP:0001065	Striae distensae	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0004334	HP:0001075	Atrophic scars	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0004334	HP:0001075	Atrophic scars	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0004334	HP:0001075	Atrophic scars	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0004334	HP:0001075	Atrophic scars	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0004334	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:0004334	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:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.	263
HP:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent	263
HP:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0004334	HP:0001075	Atrophic scars	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0004334	HP:0001065	Striae distensae	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0004334	HP:0001065	Striae distensae	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0004334	HP:0001075	Atrophic scars	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0004334	HP:0001065	Striae distensae	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0004334	HP:0001065	Striae distensae	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0004334	HP:0001075	Atrophic scars	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0004334	HP:0001065	Striae distensae	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	151
HP:0004334	HP:0001065	Striae distensae	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004334	HP:0001065	Striae distensae	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0004334	HP:0001065	Striae distensae	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0004334	HP:0007488	Diffuse skin atrophy	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0004334	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:0004334	HP:0001065	Striae distensae	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0004334	HP:0001065	Striae distensae	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0004334	HP:0007488	Diffuse skin atrophy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0004334	HP:0001065	Striae distensae	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0004334	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:0004334	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:0004334	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:0004334	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:0004334	HP:0001075	Atrophic scars	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	110
HP:0004334	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:0004334	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:0004334	HP:0001075	Atrophic scars	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	173
HP:0004334	HP:0001075	Atrophic scars	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0004334	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:0004334	HP:0007488	Diffuse skin atrophy	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0004334	HP:0001075	Atrophic scars	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent	4
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0004334	HP:0001065	Striae distensae	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0004334	HP:0001065	Striae distensae	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0004334	HP:0001065	Striae distensae	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0004334	HP:0001065	Striae distensae	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	13
HP:0004334	HP:0001065	Striae distensae	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	75
HP:0004334	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:0004334	HP:0001075	Atrophic scars	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0004334	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:0004334	HP:0001065	Striae distensae	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	2
HP:0004334	HP:0001065	Striae distensae	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0004334	HP:0001065	Striae distensae	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0004334	HP:0001065	Striae distensae	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0004334	HP:0001065	Striae distensae	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	134
HP:0004334	HP:0001075	Atrophic scars	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0004334	HP:0001065	Striae distensae	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0004334	HP:0001065	Striae distensae	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004334	HP:0001065	Striae distensae	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004334	HP:0001075	Atrophic scars	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004334	HP:0001065	Striae distensae	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0004334	HP:0001065	Striae distensae	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0004334	HP:0001065	Striae distensae	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004334	HP:0001065	Striae distensae	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0004334	HP:0001065	Striae distensae	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0004334	HP:0001065	Striae distensae	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004334	HP:0001065	Striae distensae	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0004334	HP:0001065	Striae distensae	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0004334	HP:0001065	Striae distensae	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0004334	HP:0001065	Striae distensae	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0004334	HP:0001065	Striae distensae	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0004334	HP:0001065	Striae distensae	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0004334	HP:0007504	Diffuse slow skin atrophy	2	CL E G H
HP:0004334	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:0004334	HP:0001073	Cigarette-paper scars	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0004334	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:0004334	HP:0001073	Cigarette-paper scars	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0004334	HP:0001073	Cigarette-paper scars	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004334	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:0004334	HP:0001073	Cigarette-paper scars	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0004334	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:0004334	HP:0001073	Cigarette-paper scars	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0004334	HP:0001073	Cigarette-paper scars	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0004334	HP:0001073	Cigarette-paper scars	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0004334	HP:0001073	Cigarette-paper scars	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0004334	HP:0001073	Cigarette-paper scars	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0004334	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:0004334	HP:0001073	Cigarette-paper scars	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24