Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Localized skin lesion (HP:0011355)help
..Starting node
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Aplasia/Hypoplasia of the skin (HP:0008065)help
Term ID: 8065
Name: Aplasia/Hypoplasia of the skin
Synonym: Absent/small skin; Absent/underdeveloped skin
Definition:
Comments:
Reference: HP:0008065
Genes and Diseases:
 
       Child Nodes:
........expandThin skin (HP:0000963) help
........expandAplasia cutis congenita (HP:0001057) help
................... HP:0007385 Aplasia cutis congenita of scalp
................... HP:0007589 Aplasia cutis congenita on trunk or limbs
........expandDermal atrophy (HP:0004334) help
................... HP:0001065 Striae distensae
................... HP:0001075 Atrophic scars
................... HP:0007488 Diffuse skin atrophy
........expandCongenital localized absence of skin (HP:0007383) help
................... HP:0007506 Congenital absence of skin of limbs
........expandAsymmetric, linear skin defects (HP:0007398) help
........expandHypoplastic-absent sebaceous glands (HP:0007411) help
........expandFocal dermal aplasia/hypoplasia (HP:0007510) help
........expandHypoplastic pilosebaceous units (HP:0007515) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2132
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040282 - Frequent49
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARF1 CL E G H375652ORPHA:98892Periventricular nodular heterotopia
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARFGEF2 CL E G H1056415853ORPHA:98892Periventricular nodular heterotopia179
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent147
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0BMS1 CL E G H979023505OMIM:107600APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I373
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA373
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA243
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040281 - Very frequent749
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214OMIM:132000Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn263
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 26
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E30
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent9
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenita9
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent18
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent4
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex106
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex54
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex158
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ERMARD CL E G H5578021056ORPHA:98892Periventricular nodular heterotopia36
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FLNA CL E G H23163754ORPHA:98892Periventricular nodular heterotopia493
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndrome493
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent16
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia79
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenita124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040281 - Very frequent196
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MAP1B CL E G H41316836ORPHA:98892Periventricular nodular heterotopia
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MSX2 CL E G H44887392OMIM:168500Parietal foramina45
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma85
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MVK CL E G H45987530ORPHA:735Porokeratosis of MibelliHP:0040281 - Very frequent150
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NEDD4L CL E G H233277728ORPHA:98892Periventricular nodular heterotopia30
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent452
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome28
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenita759
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PMVK CL E G H106549141ORPHA:735Porokeratosis of MibelliHP:0040281 - Very frequent3
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variant155
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type155
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PROC CL E G H56249451ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiencyHP:0040282 - Frequent65
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040282 - Frequent75
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent3
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040282 - Frequent68
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndrome6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040282 - Frequent82
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TMTC3 CL E G H16041826899ORPHA:98892Periventricular nodular heterotopia5
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040282 - Frequent72
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1134
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040281 - Very frequent7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0UBA2 CL E G H1005430661OMIM:619959
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenita
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0008065HP:0008065Aplasia/Hypoplasia of the skin0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0008065HP:0004334Dermal atrophy1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0008065HP:0000963Thin skin1ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0008065HP:0004334Dermal atrophy1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0008065HP:0004334Dermal atrophy1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0008065HP:0000963Thin skin1ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0008065HP:0000963Thin skin1ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0008065HP:0004334Dermal atrophy1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0008065HP:0004334Dermal atrophy1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0008065HP:0004334Dermal atrophy1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0008065HP:0000963Thin skin1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0008065HP:0000963Thin skin1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0008065HP:0001057Aplasia cutis congenita1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0008065HP:0001057Aplasia cutis congenita1ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0008065HP:0001057Aplasia cutis congenita1ALX4 CL E G H60529450OMIM:609597Parietal foramina 2132
HP:0008065HP:0004334Dermal atrophy1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0008065HP:0000963Thin skin1ARF1 CL E G H375652ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent
HP:0008065HP:0000963Thin skin1ARFGEF2 CL E G H1056415853ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent179
HP:0008065HP:0001057Aplasia cutis congenita1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent147
HP:0008065HP:0001057Aplasia cutis congenita1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0008065HP:0004334Dermal atrophy1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0008065HP:0001057Aplasia cutis congenita1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0008065HP:0000963Thin skin1ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040281 - Very frequent169
HP:0008065HP:0004334Dermal atrophy1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008065HP:0000963Thin skin1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0008065HP:0004334Dermal atrophy1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0008065HP:0000963Thin skin1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0008065HP:0004334Dermal atrophy1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0008065HP:0004334Dermal atrophy1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0008065HP:0001057Aplasia cutis congenita1BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0008065HP:0007383Congenital localized absence of skin1BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenitaHP:0040281 - Very frequent1
HP:0008065HP:0001057Aplasia cutis congenita1BMS1 CL E G H979023505OMIM:107600APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC1
HP:0008065HP:0000963Thin skin1BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040281 - Very frequent276
HP:0008065HP:0004334Dermal atrophy1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008065HP:0000963Thin skin1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0008065HP:0004334Dermal atrophy1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0008065HP:0004334Dermal atrophy1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0008065HP:0004334Dermal atrophy1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0008065HP:0004334Dermal atrophy1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0008065HP:0000963Thin skin1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0008065HP:0004334Dermal atrophy1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008065HP:0000963Thin skin1CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040281 - Very frequent636
HP:0008065HP:0004334Dermal atrophy1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0008065HP:0004334Dermal atrophy1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0008065HP:0004334Dermal atrophy1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0008065HP:0000963Thin skin1CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0008065HP:0004334Dermal atrophy1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0008065HP:0004334Dermal atrophy1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0008065HP:0004334Dermal atrophy1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0008065HP:0001057Aplasia cutis congenita1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0008065HP:0001057Aplasia cutis congenita1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0008065HP:0000963Thin skin1COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0008065HP:0004334Dermal atrophy1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0008065HP:0004334Dermal atrophy1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0008065HP:0000963Thin skin1COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0008065HP:0000963Thin skin1COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0008065HP:0000963Thin skin1COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent243
HP:0008065HP:0004334Dermal atrophy1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0008065HP:0000963Thin skin1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0008065HP:0004334Dermal atrophy1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0008065HP:0004334Dermal atrophy1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0008065HP:0000963Thin skin1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0008065HP:0000963Thin skin1COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0008065HP:0000963Thin skin1COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040281 - Very frequent749
HP:0008065HP:0004334Dermal atrophy1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0008065HP:0004334Dermal atrophy1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0008065HP:0000963Thin skin1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0008065HP:0004334Dermal atrophy1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0008065HP:0004334Dermal atrophy1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0008065HP:0004334Dermal atrophy1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0008065HP:0004334Dermal atrophy1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0008065HP:0004334Dermal atrophy1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0008065HP:0004334Dermal atrophy1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0008065HP:0004334Dermal atrophy1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0008065HP:0004334Dermal atrophy1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0008065HP:0004334Dermal atrophy1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0008065HP:0001057Aplasia cutis congenita1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0008065HP:0001057Aplasia cutis congenita1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0008065HP:0007383Congenital localized absence of skin1COL7A1 CL E G H12942214OMIM:132000Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails.263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0008065HP:0000963Thin skin1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0008065HP:0001057Aplasia cutis congenita1COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0008065HP:0004334Dermal atrophy1COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn263
HP:0008065HP:0004334Dermal atrophy1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0008065HP:0001057Aplasia cutis congenita1COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040280 - Obligate6
HP:0008065HP:0004334Dermal atrophy1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0008065HP:0007398Asymmetric, linear skin defects1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0008065HP:0001057Aplasia cutis congenita1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0008065HP:0001057Aplasia cutis congenita1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008065HP:0001057Aplasia cutis congenita1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008065HP:0001057Aplasia cutis congenita1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008065HP:0000963Thin skin1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0008065HP:0004334Dermal atrophy1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0008065HP:0004334Dermal atrophy1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0008065HP:0004334Dermal atrophy1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0008065HP:0000963Thin skin1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0008065HP:0004334Dermal atrophy1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0008065HP:0004334Dermal atrophy1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0008065HP:0000963Thin skin1DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0008065HP:0004334Dermal atrophy1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0008065HP:0004334Dermal atrophy1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0008065HP:0004334Dermal atrophy1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0008065HP:0004334Dermal atrophy1DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0008065HP:0001057Aplasia cutis congenita1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent9
HP:0008065HP:0001057Aplasia cutis congenita1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008065HP:0007383Congenital localized absence of skin1DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenitaHP:0040281 - Very frequent9
HP:0008065HP:0001057Aplasia cutis congenita1DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenita9
HP:0008065HP:0001057Aplasia cutis congenita1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent18
HP:0008065HP:0001057Aplasia cutis congenita1DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0008065HP:0004334Dermal atrophy1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0008065HP:0001057Aplasia cutis congenita1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0008065HP:0007411Hypoplastic-absent sebaceous glands1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0008065HP:0000963Thin skin1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0008065HP:0000963Thin skin1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0008065HP:0000963Thin skin1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008065HP:0004334Dermal atrophy1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0008065HP:0001057Aplasia cutis congenita1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent4
HP:0008065HP:0001057Aplasia cutis congenita1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0008065HP:0004334Dermal atrophy1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0008065HP:0000963Thin skin1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0008065HP:0004334Dermal atrophy1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0008065HP:0004334Dermal atrophy1ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0008065HP:0004334Dermal atrophy1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0008065HP:0000963Thin skin1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0008065HP:0004334Dermal atrophy1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0008065HP:0004334Dermal atrophy1ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0008065HP:0004334Dermal atrophy1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0008065HP:0000963Thin skin1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0008065HP:0004334Dermal atrophy1ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0008065HP:0004334Dermal atrophy1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0008065HP:0000963Thin skin1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0008065HP:0004334Dermal atrophy1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0008065HP:0004334Dermal atrophy1ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0008065HP:0004334Dermal atrophy1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0008065HP:0004334Dermal atrophy1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0008065HP:0000963Thin skin1ERMARD CL E G H5578021056ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent36
HP:0008065HP:0004334Dermal atrophy1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008065HP:0004334Dermal atrophy1FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0008065HP:0004334Dermal atrophy1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0008065HP:0004334Dermal atrophy1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0008065HP:0001057Aplasia cutis congenita1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008065HP:0004334Dermal atrophy1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0008065HP:0000963Thin skin1FLNA CL E G H23163754ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent493
HP:0008065HP:0000963Thin skin1FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndromeHP:0040281 - Very frequent493
HP:0008065HP:0000963Thin skin1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0008065HP:0004334Dermal atrophy1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0008065HP:0000963Thin skin1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0008065HP:0004334Dermal atrophy1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0008065HP:0000963Thin skin1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent52
HP:0008065HP:0004334Dermal atrophy1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0008065HP:0004334Dermal atrophy1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0008065HP:0007398Asymmetric, linear skin defects1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0008065HP:0001057Aplasia cutis congenita1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008065HP:0000963Thin skin1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008065HP:0000963Thin skin1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional
HP:0008065HP:0004334Dermal atrophy1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0008065HP:0001057Aplasia cutis congenita1ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0008065HP:0001057Aplasia cutis congenita1ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional79
HP:0008065HP:0007383Congenital localized absence of skin1ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenitaHP:0040281 - Very frequent124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenita124
HP:0008065HP:0004334Dermal atrophy1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent124
HP:0008065HP:0004334Dermal atrophy1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0008065HP:0004334Dermal atrophy1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional124
HP:0008065HP:0001057Aplasia cutis congenita1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0008065HP:0001057Aplasia cutis congenita1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0008065HP:0000963Thin skin1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0008065HP:0004334Dermal atrophy1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008065HP:0001057Aplasia cutis congenita1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0008065HP:0001057Aplasia cutis congenita1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0008065HP:0004334Dermal atrophy1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0008065HP:0004334Dermal atrophy1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008065HP:0001057Aplasia cutis congenita1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008065HP:0004334Dermal atrophy1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0008065HP:0004334Dermal atrophy1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0008065HP:0000963Thin skin1KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosisHP:0040281 - Very frequent67
HP:0008065HP:0004334Dermal atrophy1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0008065HP:0001057Aplasia cutis congenita1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0008065HP:0004334Dermal atrophy1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0008065HP:0004334Dermal atrophy1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0008065HP:0007383Congenital localized absence of skin1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0008065HP:0004334Dermal atrophy1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0008065HP:0001057Aplasia cutis congenita1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0008065HP:0004334Dermal atrophy1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0008065HP:0001057Aplasia cutis congenita1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0008065HP:0007383Congenital localized absence of skin1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0008065HP:0004334Dermal atrophy1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0008065HP:0004334Dermal atrophy1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0008065HP:0001057Aplasia cutis congenita1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0008065HP:0001057Aplasia cutis congenita1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0008065HP:0004334Dermal atrophy1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0008065HP:0007383Congenital localized absence of skin1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0008065HP:0001057Aplasia cutis congenita1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0008065HP:0004334Dermal atrophy1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0008065HP:0001057Aplasia cutis congenita1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0008065HP:0004334Dermal atrophy1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0008065HP:0001057Aplasia cutis congenita1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008065HP:0001057Aplasia cutis congenita1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008065HP:0000963Thin skin1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0008065HP:0000963Thin skin1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0008065HP:0000963Thin skin1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0008065HP:0000963Thin skin1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040282 - Frequent645
HP:0008065HP:0004334Dermal atrophy1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0008065HP:0004334Dermal atrophy1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0008065HP:0000963Thin skin1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent645
HP:0008065HP:0004334Dermal atrophy1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent645
HP:0008065HP:0004334Dermal atrophy1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0008065HP:0007515Hypoplastic pilosebaceous units1LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040281 - Very frequent4
HP:0008065HP:0004334Dermal atrophy1LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0008065HP:0000963Thin skin1MAP1B CL E G H41316836ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent
HP:0008065HP:0001057Aplasia cutis congenita1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0008065HP:0004334Dermal atrophy1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040283 - Occasional33
HP:0008065HP:0001057Aplasia cutis congenita1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0008065HP:0004334Dermal atrophy1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0008065HP:0004334Dermal atrophy1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0008065HP:0001057Aplasia cutis congenita1MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0008065HP:0001057Aplasia cutis congenita1MSX2 CL E G H44887392OMIM:168500Parietal foramina45
HP:0008065HP:0000963Thin skin1MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytomaHP:0040283 - Occasional85
HP:0008065HP:0000963Thin skin1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent
HP:0008065HP:0004334Dermal atrophy1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040281 - Very frequent
HP:0008065HP:0004334Dermal atrophy1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0008065HP:0007398Asymmetric, linear skin defects1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0008065HP:0000963Thin skin1NEDD4L CL E G H233277728ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent30
HP:0008065HP:0001057Aplasia cutis congenita1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0008065HP:0000963Thin skin1NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040281 - Very frequent40
HP:0008065HP:0001057Aplasia cutis congenita1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent452
HP:0008065HP:0001057Aplasia cutis congenita1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5HP:0040283 - Occasional452
HP:0008065HP:0000963Thin skin1NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040281 - Very frequent79
HP:0008065HP:0004334Dermal atrophy1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0008065HP:0001057Aplasia cutis congenita1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0008065HP:0001057Aplasia cutis congenita1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008065HP:0000963Thin skin1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0008065HP:0004334Dermal atrophy1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0008065HP:0004334Dermal atrophy1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0008065HP:0004334Dermal atrophy1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0008065HP:0000963Thin skin1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0008065HP:0004334Dermal atrophy1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0008065HP:0000963Thin skin1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0008065HP:0004334Dermal atrophy1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0008065HP:0000963Thin skin1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0008065HP:0000963Thin skin1PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0008065HP:0000963Thin skin1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0008065HP:0001057Aplasia cutis congenita1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0008065HP:0000963Thin skin1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0008065HP:0007383Congenital localized absence of skin1PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenitaHP:0040281 - Very frequent759
HP:0008065HP:0001057Aplasia cutis congenita1PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenita759
HP:0008065HP:0004334Dermal atrophy1PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:0008065HP:0004334Dermal atrophy1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0008065HP:0001057Aplasia cutis congenita1PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0008065HP:0001057Aplasia cutis congenita1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent759
HP:0008065HP:0001057Aplasia cutis congenita1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0008065HP:0004334Dermal atrophy1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0008065HP:0000963Thin skin1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0008065HP:0004334Dermal atrophy1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0008065HP:0004334Dermal atrophy1POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0008065HP:0004334Dermal atrophy1POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0008065HP:0004334Dermal atrophy1POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0008065HP:0000963Thin skin1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0008065HP:0000963Thin skin1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0008065HP:0004334Dermal atrophy1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008065HP:0000963Thin skin1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0008065HP:0004334Dermal atrophy1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0008065HP:0007510Focal dermal aplasia/hypoplasia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008065HP:0000963Thin skin1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040282 - Frequent42
HP:0008065HP:0000963Thin skin1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008065HP:0004334Dermal atrophy1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0008065HP:0000963Thin skin1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0008065HP:0004334Dermal atrophy1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0008065HP:0004334Dermal atrophy1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0008065HP:0000963Thin skin1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0008065HP:0004334Dermal atrophy1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0008065HP:0004334Dermal atrophy1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0008065HP:0000963Thin skin1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0008065HP:0000963Thin skin1PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0008065HP:0000963Thin skin1PROC CL E G H56249451ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiencyHP:0040282 - Frequent65
HP:0008065HP:0000963Thin skin1PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040282 - Frequent75
HP:0008065HP:0000963Thin skin1PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0008065HP:0000963Thin skin1PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0008065HP:0000963Thin skin1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent53
HP:0008065HP:0000963Thin skin1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0008065HP:0001057Aplasia cutis congenita1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent3
HP:0008065HP:0001057Aplasia cutis congenita1RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 3.3
HP:0008065HP:0004334Dermal atrophy1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040282 - Frequent445
HP:0008065HP:0004334Dermal atrophy1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008065HP:0004334Dermal atrophy1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0008065HP:0000963Thin skin1SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0008065HP:0000963Thin skin1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0008065HP:0000963Thin skin1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0008065HP:0004334Dermal atrophy1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0008065HP:0000963Thin skin1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0008065HP:0004334Dermal atrophy1SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0008065HP:0004334Dermal atrophy1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0008065HP:0004334Dermal atrophy1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0008065HP:0000963Thin skin1SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndromeHP:0040281 - Very frequent6
HP:0008065HP:0000963Thin skin1SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0008065HP:0004334Dermal atrophy1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040283 - Occasional7
HP:0008065HP:0004334Dermal atrophy1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0008065HP:0001057Aplasia cutis congenita1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0008065HP:0004334Dermal atrophy1TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0008065HP:0004334Dermal atrophy1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0008065HP:0004334Dermal atrophy1TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0008065HP:0004334Dermal atrophy1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0008065HP:0001057Aplasia cutis congenita1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008065HP:0004334Dermal atrophy1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008065HP:0004334Dermal atrophy1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0008065HP:0000963Thin skin1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional239
HP:0008065HP:0004334Dermal atrophy1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0008065HP:0004334Dermal atrophy1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0008065HP:0000963Thin skin1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional253
HP:0008065HP:0004334Dermal atrophy1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0008065HP:0004334Dermal atrophy1TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0008065HP:0004334Dermal atrophy1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0008065HP:0000963Thin skin1TMTC3 CL E G H16041826899ORPHA:98892Periventricular nodular heterotopiaHP:0040282 - Frequent5
HP:0008065HP:0000963Thin skin1TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1HP:0040282 - Frequent134
HP:0008065HP:0004334Dermal atrophy1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0008065HP:0004334Dermal atrophy1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0008065HP:0000963Thin skin1TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040281 - Very frequent911
HP:0008065HP:0004334Dermal atrophy1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0008065HP:0000963Thin skin1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0008065HP:0000963Thin skin1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0008065HP:0000963Thin skin1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0008065HP:0000963Thin skin1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0008065HP:0000963Thin skin1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040282 - Frequent7
HP:0008065HP:0000963Thin skin1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008065HP:0004334Dermal atrophy1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0008065HP:0001057Aplasia cutis congenita1UBA2 CL E G H1005430661OMIM:619959
HP:0008065HP:0001057Aplasia cutis congenita1UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenita
HP:0008065HP:0007383Congenital localized absence of skin1UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenitaHP:0040281 - Very frequent
HP:0008065HP:0000963Thin skin1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0008065HP:0001057Aplasia cutis congenita1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0008065HP:0004334Dermal atrophy1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0008065HP:0004334Dermal atrophy1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0008065HP:0000963Thin skin1USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040281 - Very frequent1
HP:0008065HP:0000963Thin skin1USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040281 - Very frequent7
HP:0008065HP:0004334Dermal atrophy1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0008065HP:0004334Dermal atrophy1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0008065HP:0000963Thin skin1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0008065HP:0000963Thin skin1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008065HP:0004334Dermal atrophy1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0008065HP:0000963Thin skin1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0008065HP:0004334Dermal atrophy1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0008065HP:0000963Thin skin1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0008065HP:0004334Dermal atrophy1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0008065HP:0004334Dermal atrophy1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0008065HP:0004334Dermal atrophy1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0008065HP:0004334Dermal atrophy1ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040281 - Very frequent83
HP:0008065HP:0000963Thin skin1ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040281 - Very frequent83
HP:0008065HP:0004334Dermal atrophy1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0008065HP:0004334Dermal atrophy1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0008065HP:0000963Thin skin1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0008065HP:0004334Dermal atrophy1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0008065HP:0007506Congenital absence of skin of limbs2 CL E G H
HP:0008065HP:0001065Striae distensae2ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent415
HP:0008065HP:0001075Atrophic scars2ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0008065HP:0001075Atrophic scars2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0008065HP:0001075Atrophic scars2AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0008065HP:0001065Striae distensae2AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0008065HP:0007385Aplasia cutis congenita of scalp2ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0008065HP:0007385Aplasia cutis congenita of scalp2ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0008065HP:0007385Aplasia cutis congenita of scalp2ALX4 CL E G H60529450OMIM:609597Parietal foramina 2.132
HP:0008065HP:0007589Aplasia cutis congenita on trunk or limbs2ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0008065HP:0007385Aplasia cutis congenita of scalp2ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0008065HP:0001065Striae distensae2ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0008065HP:0001065Striae distensae2ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008065HP:0001075Atrophic scars2B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0008065HP:0001075Atrophic scars2B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0008065HP:0001075Atrophic scars2B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0008065HP:0007385Aplasia cutis congenita of scalp2BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0008065HP:0007385Aplasia cutis congenita of scalp2BMS1 CL E G H979023505OMIM:107600APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC1
HP:0008065HP:0001065Striae distensae2BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008065HP:0001075Atrophic scars2C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0008065HP:0001075Atrophic scars2C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0008065HP:0001075Atrophic scars2C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0008065HP:0001075Atrophic scars2CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0008065HP:0001065Striae distensae2CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008065HP:0001065Striae distensae2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0008065HP:0001075Atrophic scars2CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0008065HP:0001075Atrophic scars2CHST14 CL E G