Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Aplasia/Hypoplasia of the skin (HP:0008065)

..Starting node
..Thin skin (HP:0000963)

Term ID:

963

Name:

Thin skin

Synonym:

Thin skin

Definition:

Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.

Comments:

Reference:

HP:0000963

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia cutis congenita (HP:0001057)

Asymmetric, linear skin defects (HP:0007398)

Congenital localized absence of skin (HP:0007383)

Dermal atrophy (HP:0004334)

Focal dermal aplasia/hypoplasia (HP:0007510)

Hypoplastic pilosebaceous units (HP:0007515)

Hypoplastic-absent sebaceous glands (HP:0007411)

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:0000963	HP:0000963	Thin skin	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000963	HP:0000963	Thin skin	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0000963	HP:0000963	Thin skin	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0000963	HP:0000963	Thin skin	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000963	HP:0000963	Thin skin	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000963	HP:0000963	Thin skin	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0000963	HP:0000963	Thin skin	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0000963	HP:0000963	Thin skin	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	169
HP:0000963	HP:0000963	Thin skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000963	HP:0000963	Thin skin	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0000963	HP:0000963	Thin skin	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	276
HP:0000963	HP:0000963	Thin skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000963	HP:0000963	Thin skin	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000963	HP:0000963	Thin skin	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	636
HP:0000963	HP:0000963	Thin skin	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0000963	HP:0000963	Thin skin	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0000963	HP:0000963	Thin skin	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0000963	HP:0000963	Thin skin	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0000963	HP:0000963	Thin skin	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0000963	HP:0000963	Thin skin	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0000963	HP:0000963	Thin skin	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000963	HP:0000963	Thin skin	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0000963	HP:0000963	Thin skin	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0000963	HP:0000963	Thin skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000963	HP:0000963	Thin skin	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0000963	HP:0000963	Thin skin	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0000963	HP:0000963	Thin skin	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0000963	HP:0000963	Thin skin	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000963	HP:0000963	Thin skin	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000963	HP:0000963	Thin skin	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0000963	HP:0000963	Thin skin	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0000963	HP:0000963	Thin skin	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0000963	HP:0000963	Thin skin	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0000963	HP:0000963	Thin skin	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0000963	HP:0000963	Thin skin	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0000963	HP:0000963	Thin skin	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0000963	HP:0000963	Thin skin	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0000963	HP:0000963	Thin skin	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0000963	HP:0000963	Thin skin	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0000963	HP:0000963	Thin skin	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000963	HP:0000963	Thin skin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0000963	HP:0000963	Thin skin	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000963	HP:0000963	Thin skin	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0000963	HP:0000963	Thin skin	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	1
HP:0000963	HP:0000963	Thin skin	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67
HP:0000963	HP:0000963	Thin skin	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000963	HP:0000963	Thin skin	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000963	HP:0000963	Thin skin	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000963	HP:0000963	Thin skin	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent	645
HP:0000963	HP:0000963	Thin skin	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0000963	HP:0000963	Thin skin	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0000963	HP:0000963	Thin skin	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0000963	HP:0000963	Thin skin	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0000963	HP:0000963	Thin skin	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0000963	HP:0000963	Thin skin	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0000963	HP:0000963	Thin skin	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	79
HP:0000963	HP:0000963	Thin skin	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000963	HP:0000963	Thin skin	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000963	HP:0000963	Thin skin	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	13
HP:0000963	HP:0000963	Thin skin	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	75
HP:0000963	HP:0000963	Thin skin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000963	HP:0000963	Thin skin	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0000963	HP:0000963	Thin skin	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000963	HP:0000963	Thin skin	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0000963	HP:0000963	Thin skin	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000963	HP:0000963	Thin skin	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000963	HP:0000963	Thin skin	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0000963	HP:0000963	Thin skin	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040282 - Frequent	42
HP:0000963	HP:0000963	Thin skin	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000963	HP:0000963	Thin skin	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	2
HP:0000963	HP:0000963	Thin skin	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000963	HP:0000963	Thin skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	134
HP:0000963	HP:0000963	Thin skin	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0000963	HP:0000963	Thin 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:0000963	HP:0000963	Thin 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:0000963	HP:0000963	Thin skin	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000963	HP:0000963	Thin skin	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000963	HP:0000963	Thin skin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0000963	HP:0000963	Thin skin	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000963	HP:0000963	Thin skin	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000963	HP:0000963	Thin skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0000963	HP:0000963	Thin skin	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0000963	HP:0000963	Thin skin	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0000963	HP:0000963	Thin skin	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040281 - Very frequent	6
HP:0000963	HP:0000963	Thin skin	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0000963	HP:0000963	Thin skin	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0000963	HP:0000963	Thin skin	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0000963	HP:0000963	Thin skin	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0000963	HP:0000963	Thin skin	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0000963	HP:0000963	Thin skin	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	911
HP:0000963	HP:0000963	Thin skin	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000963	HP:0000963	Thin skin	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0000963	HP:0000963	Thin skin	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000963	HP:0000963	Thin skin	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0000963	HP:0000963	Thin skin	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0000963	HP:0000963	Thin skin	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000963	HP:0000963	Thin skin	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000963	HP:0000963	Thin skin	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	1
HP:0000963	HP:0000963	Thin skin	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	7
HP:0000963	HP:0000963	Thin skin	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000963	HP:0000963	Thin skin	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0000963	HP:0000963	Thin skin	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0000963	HP:0000963	Thin skin	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0000963	HP:0000963	Thin skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0000963	HP:0000963	Thin skin	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83

Genes (85) :ABL1 ADAMTS2 ADAMTSL2 AIP ALDH18A1 ARF1 ARFGEF2 ATRX B3GALT6 B4GALT7 BRAF C1R CAV1 CDH23 CHUK COL1A1 COL1A2 COL3A1 COL7A1 CTC1 DDB2 DDR2 EDA EDAR EDARADD ERCC2 ERCC3 ERCC4 ERCC5 ERMARD FLNA FMR1 GNAS GORAB IFT140 IPO8 KDF1 KRT2 LIFR LMNA MAP1B MTAP MTX2 NEDD4L NFIX NR3C1 ORC1 PDE11A PDE8B PDGFRB PEPD PIK3R1 PLOD1 POLR3A PORCN PPARG PPP1CB PRKACA PRKAR1A PRKD1 PROC PROS1 PTDSS1 PYCR1 RBCK1 SATB2 SLC2A10 SLC39A13 SMARCAD1 SOX18 TGFBR1 TGFBR2 TMTC3 TNXB TP53 TP63 TRAF6 TWIST2 UBE3B USP48 USP8 WNT10A XPA XPC ZMPSTE24

Diseases (73) :OMIM:617602 ORPHA:1901 OMIM:219090 OMIM:219150 ORPHA:98892 ORPHA:96253 ORPHA:536467 ORPHA:75496 OMIM:130080 OMIM:606721 OMIM:613630 ORPHA:1899 OMIM:166200 OMIM:166210 ORPHA:230851 OMIM:225320 ORPHA:2500 ORPHA:286 ORPHA:158673 OMIM:612199 ORPHA:910 OMIM:618175 OMIM:305100 ORPHA:1810 ORPHA:75497 ORPHA:449291 OMIM:219080 ORPHA:2078 OMIM:266920 ORPHA:60030 ORPHA:455 OMIM:601559 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:90153 OMIM:112250 ORPHA:561 OMIM:224690 OMIM:610475 ORPHA:189439 OMIM:616592 ORPHA:742 OMIM:269880 OMIM:225400 ORPHA:3455 OMIM:264090 ORPHA:2092 ORPHA:79083 OMIM:617506 OMIM:610489 OMIM:617364 ORPHA:745 ORPHA:743 OMIM:151050 OMIM:614438 OMIM:615895 OMIM:612313 ORPHA:3342 OMIM:612350 ORPHA:157965 ORPHA:1658 OMIM:607823 ORPHA:230839 OMIM:103285 ORPHA:978 OMIM:129400 ORPHA:920 OMIM:200110 OMIM:244450 OMIM:150400 ORPHA:90154 OMIM:275210

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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