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:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040282 - Frequent	49
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia		179
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional	3267
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I		373
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		86
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		56
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		106
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		54
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		158
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia		36
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia		493
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	16
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent	150
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia		30
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent	759
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent	3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant		155
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent	68
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent	6
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent	22
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent	82
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia		5
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent	72
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0008065	HP:0008065	Aplasia/Hypoplasia of the skin	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0008065	HP:0004334	Dermal atrophy	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0008065	HP:0000963	Thin skin	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0008065	HP:0004334	Dermal atrophy	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	11
HP:0008065	HP:0004334	Dermal atrophy	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0008065	HP:0000963	Thin skin	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0008065	HP:0000963	Thin skin	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0008065	HP:0004334	Dermal atrophy	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008065	HP:0004334	Dermal atrophy	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0008065	HP:0000963	Thin skin	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0008065	HP:0004334	Dermal atrophy	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0008065	HP:0000963	Thin skin	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0008065	HP:0004334	Dermal atrophy	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0008065	HP:0000963	Thin skin	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0008065	HP:0000963	Thin skin	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0008065	HP:0004334	Dermal atrophy	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0008065	HP:0004334	Dermal atrophy	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0008065	HP:0000963	Thin skin	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	169
HP:0008065	HP:0000963	Thin skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0008065	HP:0004334	Dermal atrophy	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0008065	HP:0000963	Thin skin	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0008065	HP:0004334	Dermal atrophy	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0008065	HP:0004334	Dermal atrophy	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0008065	HP:0001057	Aplasia cutis congenita	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0008065	HP:0007383	Congenital localized absence of skin	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0008065	HP:0001057	Aplasia cutis congenita	1	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0008065	HP:0000963	Thin skin	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	276
HP:0008065	HP:0004334	Dermal atrophy	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0008065	HP:0000963	Thin skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0008065	HP:0004334	Dermal atrophy	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0008065	HP:0004334	Dermal atrophy	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0008065	HP:0004334	Dermal atrophy	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0008065	HP:0004334	Dermal atrophy	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0008065	HP:0000963	Thin skin	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0008065	HP:0000963	Thin skin	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	636
HP:0008065	HP:0004334	Dermal atrophy	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0008065	HP:0004334	Dermal atrophy	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0008065	HP:0004334	Dermal atrophy	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0008065	HP:0004334	Dermal atrophy	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0008065	HP:0000963	Thin skin	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0008065	HP:0004334	Dermal atrophy	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0008065	HP:0004334	Dermal atrophy	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0008065	HP:0004334	Dermal atrophy	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0008065	HP:0000963	Thin skin	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0008065	HP:0004334	Dermal atrophy	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0008065	HP:0004334	Dermal atrophy	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0008065	HP:0000963	Thin skin	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0008065	HP:0000963	Thin skin	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0008065	HP:0000963	Thin skin	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0008065	HP:0004334	Dermal atrophy	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0008065	HP:0000963	Thin skin	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0008065	HP:0004334	Dermal atrophy	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0008065	HP:0004334	Dermal atrophy	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0008065	HP:0000963	Thin skin	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0008065	HP:0000963	Thin skin	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0008065	HP:0000963	Thin skin	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0008065	HP:0004334	Dermal atrophy	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0008065	HP:0004334	Dermal atrophy	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0008065	HP:0004334	Dermal atrophy	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0008065	HP:0000963	Thin skin	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0008065	HP:0004334	Dermal atrophy	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0008065	HP:0004334	Dermal atrophy	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0008065	HP:0004334	Dermal atrophy	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0008065	HP:0004334	Dermal atrophy	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0008065	HP:0004334	Dermal atrophy	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0008065	HP:0004334	Dermal atrophy	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0008065	HP:0004334	Dermal atrophy	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0008065	HP:0004334	Dermal atrophy	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa		263
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant		263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0008065	HP:0007383	Congenital localized absence of skin	1	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.	263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0008065	HP:0000963	Thin skin	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form		263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa		263
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0008065	HP:0004334	Dermal atrophy	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0008065	HP:0004334	Dermal atrophy	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0008065	HP:0001057	Aplasia cutis congenita	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040280 - Obligate	6
HP:0008065	HP:0004334	Dermal atrophy	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0008065	HP:0007398	Asymmetric, linear skin defects	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0008065	HP:0001057	Aplasia cutis congenita	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0008065	HP:0001057	Aplasia cutis congenita	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008065	HP:0001057	Aplasia cutis congenita	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0001057	Aplasia cutis congenita	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0000963	Thin skin	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0008065	HP:0004334	Dermal atrophy	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0008065	HP:0004334	Dermal atrophy	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0008065	HP:0004334	Dermal atrophy	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0008065	HP:0004334	Dermal atrophy	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0008065	HP:0000963	Thin skin	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0008065	HP:0004334	Dermal atrophy	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0008065	HP:0000963	Thin skin	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0008065	HP:0004334	Dermal atrophy	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0008065	HP:0004334	Dermal atrophy	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0008065	HP:0004334	Dermal atrophy	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	65
HP:0008065	HP:0004334	Dermal atrophy	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0008065	HP:0007383	Congenital localized absence of skin	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0008065	HP:0004334	Dermal atrophy	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0008065	HP:0001057	Aplasia cutis congenita	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0008065	HP:0000963	Thin skin	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0008065	HP:0007411	Hypoplastic-absent sebaceous glands	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0008065	HP:0000963	Thin skin	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0008065	HP:0000963	Thin skin	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0008065	HP:0004334	Dermal atrophy	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0008065	HP:0001057	Aplasia cutis congenita	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0008065	HP:0001057	Aplasia cutis congenita	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0008065	HP:0000963	Thin skin	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0008065	HP:0000963	Thin skin	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0008065	HP:0000963	Thin skin	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0008065	HP:0000963	Thin skin	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0008065	HP:0004334	Dermal atrophy	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0008065	HP:0000963	Thin skin	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0008065	HP:0004334	Dermal atrophy	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0008065	HP:0004334	Dermal atrophy	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0008065	HP:0004334	Dermal atrophy	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0008065	HP:0004334	Dermal atrophy	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0008065	HP:0001057	Aplasia cutis congenita	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008065	HP:0004334	Dermal atrophy	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0008065	HP:0000963	Thin skin	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0008065	HP:0000963	Thin skin	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0008065	HP:0000963	Thin skin	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0008065	HP:0004334	Dermal atrophy	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0008065	HP:0000963	Thin skin	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0008065	HP:0004334	Dermal atrophy	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0008065	HP:0000963	Thin skin	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0008065	HP:0004334	Dermal atrophy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0008065	HP:0004334	Dermal atrophy	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0008065	HP:0007398	Asymmetric, linear skin defects	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0008065	HP:0001057	Aplasia cutis congenita	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0008065	HP:0000963	Thin skin	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0008065	HP:0004334	Dermal atrophy	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0008065	HP:0000963	Thin skin	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	79
HP:0008065	HP:0007383	Congenital localized absence of skin	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0008065	HP:0004334	Dermal atrophy	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0008065	HP:0004334	Dermal atrophy	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0008065	HP:0004334	Dermal atrophy	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0008065	HP:0001057	Aplasia cutis congenita	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0008065	HP:0000963	Thin skin	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	1
HP:0008065	HP:0004334	Dermal atrophy	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0008065	HP:0001057	Aplasia cutis congenita	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0008065	HP:0001057	Aplasia cutis congenita	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0008065	HP:0004334	Dermal atrophy	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0008065	HP:0004334	Dermal atrophy	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0008065	HP:0001057	Aplasia cutis congenita	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0008065	HP:0004334	Dermal atrophy	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0008065	HP:0004334	Dermal atrophy	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0008065	HP:0000963	Thin skin	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67
HP:0008065	HP:0004334	Dermal atrophy	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0008065	HP:0001057	Aplasia cutis congenita	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0008065	HP:0004334	Dermal atrophy	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0008065	HP:0004334	Dermal atrophy	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0008065	HP:0007383	Congenital localized absence of skin	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0008065	HP:0004334	Dermal atrophy	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0008065	HP:0004334	Dermal atrophy	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0008065	HP:0004334	Dermal atrophy	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0008065	HP:0007383	Congenital localized absence of skin	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0008065	HP:0004334	Dermal atrophy	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0008065	HP:0007383	Congenital localized absence of skin	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0008065	HP:0004334	Dermal atrophy	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0008065	HP:0004334	Dermal atrophy	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0008065	HP:0004334	Dermal atrophy	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0001057	Aplasia cutis congenita	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008065	HP:0000963	Thin skin	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0008065	HP:0000963	Thin skin	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0008065	HP:0000963	Thin skin	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0008065	HP:0000963	Thin skin	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent	645
HP:0008065	HP:0004334	Dermal atrophy	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0008065	HP:0004334	Dermal atrophy	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0008065	HP:0004334	Dermal atrophy	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0008065	HP:0000963	Thin skin	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0008065	HP:0004334	Dermal atrophy	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0008065	HP:0007515	Hypoplastic pilosebaceous units	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent	4
HP:0008065	HP:0004334	Dermal atrophy	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0008065	HP:0000963	Thin skin	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0008065	HP:0001057	Aplasia cutis congenita	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0008065	HP:0004334	Dermal atrophy	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional	33
HP:0008065	HP:0004334	Dermal atrophy	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0008065	HP:0001057	Aplasia cutis congenita	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0008065	HP:0004334	Dermal atrophy	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0008065	HP:0001057	Aplasia cutis congenita	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0008065	HP:0001057	Aplasia cutis congenita	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0008065	HP:0000963	Thin skin	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0008065	HP:0004334	Dermal atrophy	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0008065	HP:0000963	Thin skin	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0008065	HP:0004334	Dermal atrophy	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0008065	HP:0007398	Asymmetric, linear skin defects	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0008065	HP:0000963	Thin skin	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0008065	HP:0001057	Aplasia cutis congenita	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0008065	HP:0000963	Thin skin	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0008065	HP:0001057	Aplasia cutis congenita	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0008065	HP:0001057	Aplasia cutis congenita	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0008065	HP:0000963	Thin skin	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	79
HP:0008065	HP:0004334	Dermal atrophy	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0008065	HP:0001057	Aplasia cutis congenita	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0008065	HP:0001057	Aplasia cutis congenita	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008065	HP:0000963	Thin skin	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0008065	HP:0004334	Dermal atrophy	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	26
HP:0008065	HP:0004334	Dermal atrophy	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0008065	HP:0000963	Thin skin	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0008065	HP:0004334	Dermal atrophy	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0008065	HP:0000963	Thin skin	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	13
HP:0008065	HP:0004334	Dermal atrophy	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0008065	HP:0004334	Dermal atrophy	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0008065	HP:0000963	Thin skin	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	75
HP:0008065	HP:0000963	Thin skin	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0008065	HP:0000963	Thin skin	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0008065	HP:0001057	Aplasia cutis congenita	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0008065	HP:0000963	Thin skin	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0008065	HP:0001057	Aplasia cutis congenita	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0008065	HP:0007383	Congenital localized absence of skin	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0008065	HP:0004334	Dermal atrophy	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent	759
HP:0008065	HP:0004334	Dermal atrophy	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0008065	HP:0001057	Aplasia cutis congenita	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0008065	HP:0001057	Aplasia cutis congenita	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0008065	HP:0004334	Dermal atrophy	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0008065	HP:0001057	Aplasia cutis congenita	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0008065	HP:0000963	Thin skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0008065	HP:0004334	Dermal atrophy	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0008065	HP:0004334	Dermal atrophy	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0008065	HP:0004334	Dermal atrophy	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0008065	HP:0004334	Dermal atrophy	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0008065	HP:0000963	Thin skin	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0008065	HP:0000963	Thin skin	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0008065	HP:0007510	Focal dermal aplasia/hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008065	HP:0004334	Dermal atrophy	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0008065	HP:0000963	Thin skin	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0008065	HP:0004334	Dermal atrophy	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0008065	HP:0000963	Thin skin	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040282 - Frequent	42
HP:0008065	HP:0000963	Thin skin	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0008065	HP:0000963	Thin skin	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	2
HP:0008065	HP:0004334	Dermal atrophy	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0008065	HP:0004334	Dermal atrophy	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0008065	HP:0004334	Dermal atrophy	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0008065	HP:0000963	Thin skin	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0008065	HP:0004334	Dermal atrophy	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0008065	HP:0000963	Thin skin	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	134
HP:0008065	HP:0004334	Dermal atrophy	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0008065	HP:0000963	Thin skin	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0008065	HP:0000963	Thin skin	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0008065	HP:0000963	Thin skin	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0008065	HP:0000963	Thin skin	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0008065	HP:0000963	Thin skin	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0008065	HP:0000963	Thin skin	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0008065	HP:0000963	Thin skin	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0008065	HP:0001057	Aplasia cutis congenita	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0008065	HP:0001057	Aplasia cutis congenita	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0008065	HP:0004334	Dermal atrophy	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0008065	HP:0004334	Dermal atrophy	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0008065	HP:0004334	Dermal atrophy	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	77
HP:0008065	HP:0000963	Thin skin	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0008065	HP:0000963	Thin skin	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0008065	HP:0000963	Thin skin	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0008065	HP:0004334	Dermal atrophy	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0008065	HP:0000963	Thin skin	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0008065	HP:0004334	Dermal atrophy	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0008065	HP:0004334	Dermal atrophy	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0008065	HP:0004334	Dermal atrophy	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0008065	HP:0000963	Thin skin	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040281 - Very frequent	6
HP:0008065	HP:0000963	Thin skin	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0008065	HP:0004334	Dermal atrophy	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional	7
HP:0008065	HP:0004334	Dermal atrophy	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0008065	HP:0001057	Aplasia cutis congenita	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008065	HP:0004334	Dermal atrophy	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0008065	HP:0004334	Dermal atrophy	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0008065	HP:0004334	Dermal atrophy	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0008065	HP:0004334	Dermal atrophy	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	238
HP:0008065	HP:0004334	Dermal atrophy	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0008065	HP:0001057	Aplasia cutis congenita	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0008065	HP:0004334	Dermal atrophy	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0008065	HP:0000963	Thin skin	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0008065	HP:0004334	Dermal atrophy	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0008065	HP:0004334	Dermal atrophy	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0008065	HP:0000963	Thin skin	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0008065	HP:0004334	Dermal atrophy	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0008065	HP:0004334	Dermal atrophy	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0008065	HP:0004334	Dermal atrophy	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	60
HP:0008065	HP:0000963	Thin skin	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0008065	HP:0000963	Thin skin	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0008065	HP:0004334	Dermal atrophy	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0008065	HP:0000963	Thin skin	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	911
HP:0008065	HP:0004334	Dermal atrophy	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0008065	HP:0004334	Dermal atrophy	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0008065	HP:0000963	Thin skin	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0008065	HP:0000963	Thin skin	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0008065	HP:0000963	Thin skin	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0008065	HP:0000963	Thin skin	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0008065	HP:0000963	Thin skin	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0008065	HP:0000963	Thin skin	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0008065	HP:0004334	Dermal atrophy	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0008065	HP:0001057	Aplasia cutis congenita	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0008065	HP:0001057	Aplasia cutis congenita	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0008065	HP:0007383	Congenital localized absence of skin	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0008065	HP:0000963	Thin skin	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0008065	HP:0001057	Aplasia cutis congenita	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0008065	HP:0004334	Dermal atrophy	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0008065	HP:0000963	Thin skin	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	1
HP:0008065	HP:0004334	Dermal atrophy	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0008065	HP:0000963	Thin skin	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	7
HP:0008065	HP:0004334	Dermal atrophy	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0008065	HP:0000963	Thin skin	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0008065	HP:0004334	Dermal atrophy	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0008065	HP:0000963	Thin skin	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0008065	HP:0004334	Dermal atrophy	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0008065	HP:0000963	Thin skin	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0008065	HP:0004334	Dermal atrophy	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0008065	HP:0000963	Thin skin	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0008065	HP:0004334	Dermal atrophy	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0008065	HP:0004334	Dermal atrophy	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0008065	HP:0004334	Dermal atrophy	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0008065	HP:0000963	Thin skin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0008065	HP:0004334	Dermal atrophy	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0008065	HP:0004334	Dermal atrophy	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0008065	HP:0004334	Dermal atrophy	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0008065	HP:0000963	Thin skin	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0008065	HP:0004334	Dermal atrophy	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0008065	HP:0007506	Congenital absence of skin of limbs	2	CL E G H
HP:0008065	HP:0001065	Striae distensae	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	415
HP:0008065	HP:0001075	Atrophic scars	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0008065	HP:0001075	Atrophic scars	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008065	HP:0001075	Atrophic scars	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0008065	HP:0001065	Striae distensae	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0008065	HP:0007589	Aplasia cutis congenita on trunk or limbs	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0008065	HP:0001065	Striae distensae	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0008065	HP:0001065	Striae distensae	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0008065	HP:0001075	Atrophic scars	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0008065	HP:0001075	Atrophic scars	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	29
HP:0008065	HP:0001075	Atrophic scars	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0008065	HP:0007385	Aplasia cutis congenita of scalp	2	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0008065	HP:0001065	Striae distensae	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0008065	HP:0001075	Atrophic scars	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0008065	HP:0001075	Atrophic scars	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	15
HP:0008065	HP:0001075	Atrophic scars	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	7
HP:0008065	HP:0001075	Atrophic scars	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0008065	HP:0001065	Striae distensae	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0008065	HP:0001065	Striae distensae	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0008065	HP:0001075	Atrophic scars	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0008065	HP:0001075	Atrophic scars	2	CHST14 CL E G