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200:, a drug aimed at the treatment of XLHED. During development in mice and dogs EDI200 has been shown to substitute for the altered or missing protein resulting from the EDA mutation which causes XLHED. A second trial in newborn infants with XLHED tested the synthetic protein in 10 subjects between 2013 and 2016 at 6 sites in the US and Europe. As the treated group "didn’t see significant changes in sweat gland function and other early markers of biologic activity", prenatal administration of the drug was considered.
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normal X she will not show symptoms. If a female is operating on her carrier X she will show symptoms. In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition. These signs and symptoms are usually mild and include a few missing or abnormal teeth, sparse hair, and some problems with sweat gland function. Some carriers, however, have more severe features of this disorder.
180:
sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
179:
pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is
213:
sufficient to cause the disorder. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
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In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Since females operate on only one of their two X chromosomes (X inactivation) a female carrier may or may not manifest symptoms of the disease. If a female carrier is operating on her
203:
Following the Edimer trials, Dr. Holm
Schneider, the principal investigator of these trials which indicated sufficient safety of the replacement protein, injected EDI200 via amniocentesis with better development of tooth buds and sweat glands than in the postnatal trial and persistent sweating
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Less commonly, hypohidrotic ectodermal dysplasia results from mutations in the EDAR or EDARADD gene. Both EDAR and EDARADD mutations can have an autosomal dominant or autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is
221:
Thurnam in 1848 reported 2 cases of hypohidrotic form. Similar cases were reported by
Guilford and Hutchinson in 1883 and 1886 respectively. Weech, in 1929 introduced the term hereditary ectodermal dysplasia and suggested the term anhidrotic for those with inability to perspire.
164:. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
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genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the
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334:"Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) - Full Text View - ClinicalTrials.gov"
111:) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body.
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Schneider, Holm; Faschingbauer, Florian; Schuepbach-Mallepell, Sonia; Körber, Iris; Wohlfart, Sigrun; Dick, Angela; Wahlbuhl, Mandy; Kowalczyk-Quintas, Christine; Vigolo, Michele (2018-04-26).
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Körber, Iris; Klein, Ophir; Morhart, Patrick; Faschingbauer, Florian; Grange, Dorothy; Clarke, Angus; Bodemer, Christine; Maitz, Silvia; Huttner, Kenneth (2020-04-06).
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Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide.
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In
January 2013, Edimer Pharmaceuticals, a biotechnology company based in Cambridge, MA, USA, initiated a Phase I, open-label, safety and pharmacokinetic
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The hair is often light-coloured, brittle, and slow-growing. This condition is also characterized by absent teeth (
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384:"Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects"
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354:"X-Linked Hypohidrotic Ectodermal Dysplasia | National Foundation for Ectodermal Dysplasias"
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442:"Babies With XLHED Treated In Utero | National Foundation for Ectodermal Dysplasias"
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Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (
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in humans. These disorders result in the development of structures including the
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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Most cases are caused by mutations in the EDA gene, which are inherited in an
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Hypohidrotic ectodermal dysplasia has several different inheritance patterns.
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Template:Congenital malformations and deformations of skin appendages
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468:"Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia"
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List of radiographic findings associated with cutaneous conditions
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List of dental abnormalities associated with cutaneous conditions
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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Deficiencies of intracellular signaling peptides and proteins
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GeneReview/NIH/UW entry on
Hypohidrotic Ectodermal Dysplasia
50:
This condition is inherited in an X-linked recessive manner.
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2208:
2049:
137:
84:
1629:
Congenital hypertrophy of the lateral fold of the hallux
1497:
Template:DNA replication and repair-deficiency disorder
3168:
290:
James, William; Berger, Timothy; Elston, Dirk (2005).
3870:
Junctional epidermolysis bullosa with pyloric atresia
535:
292:
147:genes cause hypohidrotic ectodermal dysplasia. The
3970:
1113:Diffuse nonepidermolytic palmoplantar keratoderma
4170:
3509:Congenital insensitivity to pain with anhidrosis
837:Nonbullous congenital ichthyosiform erythroderma
1955:Danon disease/glycogen storage disease Type IIb
1302:Palmoplantar keratoderma and spastic paraplegia
1108:Diffuse epidermolytic palmoplantar keratoderma
207:
4158:intercellular signaling peptides and proteins
3956:
3154:
3129:intracellular signaling peptides and proteins
2367:
2060:Color blindness (red and green, but not blue)
2045:Alpha-thalassemia mental retardation syndrome
1749:
1639:Congenital malformations of the dermatoglyphs
669:
446:National Foundation for Ectodermal Dysplasias
358:National Foundation for Ectodermal Dysplasias
313:Fitzpatrick's Dermatology in General Medicine
3254:Gonadotropin-releasing hormone insensitivity
1945:Glucose-6-phosphate dehydrogenase deficiency
3670:Congenital amegakaryocytic thrombocytopenia
4067:Autoimmune lymphoproliferative syndrome 1B
3963:
3949:
3755:Autoimmune lymphoproliferative syndrome 1A
3238:Follicle-stimulating hormone insensitivity
3161:
3147:
2374:
2360:
1756:
1742:
1664:Melanotic neuroectodermal tumor of infancy
1401:Keratosis follicularis spinulosa decalvans
832:Ichthyosis–sclerosing cholangitis syndrome
676:
662:
103:displays outward symptoms of the condition
65:
41:
3919:X-linked severe combined immunodeficiency
3695:TNF receptor associated periodic syndrome
2991:EDARADD Hypohidrotic ectodermal dysplasia
1805:X-linked severe combined immunodeficiency
1624:Congenital cartilaginous rest of the neck
1219:Focal palmoplantar and gingival keratosis
483:
417:
399:
1689:Rapidly involuting congenital hemangioma
1279:Keratosis punctata of the palmar creases
1274:Keratosis punctata palmaris et plantaris
1145:Clouston's hidrotic ectodermal dysplasia
388:British Journal of Clinical Pharmacology
94:
3707:Selective immunoglobulin A deficiency 2
3298:Aspirin-exacerbated respiratory disease
2199:X-linked nephrogenic diabetes insipidus
2124:Hypohidrotic ectodermal dysplasia (EDA)
4171:
3882:EDAR hypohidrotic ectodermal dysplasia
3810:Familial exudative vitreoretinopathy 4
3367:Familial exudative vitreoretinopathy 1
2134:X-linked endothelial corneal dystrophy
1777:
1763:
284:
225:
3990:EDA Hypohidrotic ectodermal dysplasia
3944:
3574:Hereditary hemorrhagic telangiectasia
3550:Persistent MĂĽllerian duct syndrome II
3321:Jansen's metaphyseal chondrodysplasia
3142:
2355:
2279:
2278:
2090:Charcot–Marie–Tooth disease (CMTX2-3)
1914:Ornithine transcarbamylase deficiency
1890:X-linked adrenal hypoplasia congenita
1776:
1737:
750:Congenital ichthyosiform erythroderma
657:
3895:Nevoid basal-cell carcinoma syndrome
3344:Familial hypocalciuric hypercalcemia
2622:Neutrophil immunodeficiency syndrome
2505:Albright's hereditary osteodystrophy
1825:X-linked lymphoproliferative disease
1795:Chronic granulomatous disease (CYBB)
1411:Keratosis pilaris atrophicans faciei
996:Dermatopathia pigmentosa reticularis
305:
3658:Surfactant metabolism dysfunction 4
2976:Signal transducing adaptor proteins
2171:Emery–Dreifuss muscular dystrophy 1
204:ability in all three treated boys.
13:
3907:BMPR1A juvenile polyposis syndrome
3828:LDLR Familial hypercholesterolemia
2560:KRAS Cardiofaciocutaneous syndrome
2451:X-linked intellectual disability 1
2446:Juvenile primary lateral sclerosis
1880:Spinal and bulbar muscular atrophy
1704:Superficial lymphatic malformation
1649:Congenital smooth muscle hamartoma
1118:Palmoplantar keratoderma of Sybert
687:malformations and deformations of
14:
4215:
3218:Luteinizing hormone insensitivity
2907:Bannayan–Riley–Ruvalcaba syndrome
1950:Pyruvate dehydrogenase deficiency
1176:Scleroatrophic syndrome of Huriez
1006:Hypohidrotic ectodermal dysplasia
642:Hypohidrotic Ectodermal Dysplasia
525:Hypohidrotic ectodermal dysplasia
512:
170:
77:Hypohidrotic ectodermal dysplasia
22:Hypohidrotic ectodermal dysplasia
3286:Nephrogenic diabetes insipidus 1
2495:Progressive osseous heteroplasia
2030:X-linked intellectual disability
1289:Porokeratosis plantaris discreta
1246:Striate palmoplantar keratoderma
35:Christ-Siemens-Touraine syndrome
3226:Male-limited precocious puberty
3100:PRKCSH Polycystic liver disease
1876:Androgen insensitivity syndrome
1714:Verrucous vascular malformation
1644:Congenital preauricular fistula
1614:Accessory nail of the fifth toe
1491:Template:Pigmentation disorders
1284:Schöpf–Schulz–Passarge syndrome
1264:Acrokeratoelastoidosis of Costa
969:Laryngoonychocutaneous syndrome
842:Ichthyosis linearis circumflexa
827:Ichthyosis prematurity syndrome
472:New England Journal of Medicine
118:) or teeth that are malformed.
90:
31:Anhidrotic ectodermal dysplasia
4204:Genetic diseases and disorders
3613:Leber's congenital amaurosis 1
3525:Gastrointestinal stromal tumor
3086:Wolff–Parkinson–White syndrome
2490:Pseudopseudohypoparathyroidism
2389:GTP-binding protein regulators
2252:Simpson–Golabi–Behmel syndrome
1328:Erythrokeratodermia variabilis
1239:Pachyonychia congenita type II
459:
434:
375:
346:
326:
216:
1:
2694:Cardiofaciocutaneous syndrome
2642:Chylomicron retention disease
2221:AMELX Amelogenesis imperfecta
2161:Centronuclear myopathy (MTM1)
1858:X-linked sideroblastic anemia
1654:Cystic lymphatic malformation
1607:Cavernous venous malformation
1234:Pachyonychia congenita type I
1157:Corneodermatoosseous syndrome
817:Ichthyosis bullosa of Siemens
277:
187:
79:is one of about 150 types of
2936:X-linked myotubular myopathy
2247:Smith–Fineman–Myers syndrome
2095:Pelizaeus–Merzbacher disease
1989:Purine–pyrimidine metabolism
1062:Popliteal pterygium syndrome
754:Epidermolytic hyperkeratosis
257:List of cutaneous conditions
7:
4145:Congenital hypothyroidism 4
4133:Premature ovarian failure 4
4013:Craniofrontonasal dysplasia
3206:Congenital hypothyroidism 1
2733:X-linked agammaglobulinemia
2577:Charcot–Marie–Tooth disease
2337:Craniofrontonasal dysplasia
2262:Nasodigitoacoustic syndrome
1810:X-linked agammaglobulinemia
1694:Rosenthal–Kloepfer syndrome
1679:Omphalomesenteric duct cyst
1396:Keratolytic winter erythema
1056:Gerodermia osteodysplastica
245:
208:EDAR or EDARADD (autosomal)
124:
10:
4220:
4184:Defects in innate immunity
3995:Camurati–Engelmann disease
3865:Glanzmann's thrombasthenia
3845:Immunoglobulin superfamily
3497:Rabson–Mendenhall syndrome
3179:G protein-coupled receptor
2436:Marinesco–Sjögren syndrome
2332:Orofaciodigital syndrome 1
2166:Conradi–Hünermann syndrome
1919:Oculocerebrorenal syndrome
1269:Focal acral hyperkeratosis
1016:Ellis–van Creveld syndrome
315:. (6th ed.). McGraw-Hill.
311:Freedberg, et al. (2003).
4121:DHH XY gonadal dysgenesis
4107:
4075:
4057:
4039:
4021:
4003:
3980:
3837:
3764:
3719:Hyper-IgM syndrome type 3
3679:
3626:
3597:
3534:
3396:
3380:
3353:
3330:
3307:
3192:
3177:
3124:
3044:Neurofibromatosis type II
3029:
2974:
2888:
2878:Pseudohypoaldosteronism 2
2757:
2716:
2702:
2684:
2605:Griscelli syndrome type 2
2523:
2472:
2463:
2424:
2398:GTPase-activating protein
2396:
2387:
2292:X-linked hypophosphatemia
2287:
2274:
2229:
2207:
2179:
2152:Becker muscular dystrophy
2142:
2108:
2019:
1898:
1866:
1838:
1815:Hyper-IgM syndrome type 1
1785:
1772:
1584:
1554:
1518:
1509:
1428:
1347:
1193:Papillon–Lefèvre syndrome
1094:
1080:
1033:
982:
859:
809:
791:
764:Harlequin-type ichthyosis
740:
722:
699:
627:
539:
87:where people sweat less.
54:
49:
40:
26:
21:
4097:Hirschsprung's disease 4
4092:Waardenburg syndrome IVb
3794:Cenani–Lenz syndactylism
3636:Type I cytokine receptor
3274:Hirschsprung's disease 2
2912:Lhermitte–Duclos disease
2510:McCune–Albright syndrome
2500:Pseudohypoparathyroidism
2406:Neurofibromatosis type I
2257:Mohr–Tranebjærg syndrome
1800:Wiskott–Aldrich syndrome
1067:Pseudoxanthoma elasticum
783:Sjögren–Larsson syndrome
294:. (10th ed.). Saunders.
3476:Thanatophoric dysplasia
3270:Waardenburg syndrome 4a
2670:Bardet–Biedl syndrome 3
2297:Focal dermal hypoplasia
2011:Occipital horn syndrome
1940:Carbohydrate metabolism
1592:Aplasia cutis congenita
1011:Focal dermal hypoplasia
974:Skin fragility syndrome
822:Ichthyosis follicularis
532:Genetics Home Reference
3930:cell surface receptors
3782:Donnai–Barrow syndrome
3456:Jackson–Weiss syndrome
3444:Antley–Bixler syndrome
3428:KAL2 Kallmann syndrome
3382:Enzyme-linked receptor
3222:Leydig cell hypoplasia
2818:Peutz–Jeghers syndrome
2804:Incontinentia pigmenti
2790:Li–Fraumeni syndrome 2
2441:Aarskog–Scott syndrome
2312:Incontinentia pigmenti
2119:Dyskeratosis congenita
1963:Lipid storage disorder
1885:KAL1 Kallmann syndrome
1709:Thyroglossal duct cyst
1674:Nasolacrimal duct cyst
1597:Amniotic band syndrome
1391:Dyskeratosis congenita
1379:Dyskeratosis congenita
1229:Pachyonychia congenita
1140:Bart–Pumphrey syndrome
1072:Van der Woude syndrome
1047:Ehlers–Danlos syndrome
252:Hermann Werner Siemens
104:
4031:Tetra-amelia syndrome
3242:XX gonadal dysgenesis
3170:Cell surface receptor
2922:Proteus-like syndrome
2776:Coffin-Lowry syndrome
2035:Coffin–Lowry syndrome
1976:Mucopolysaccharidosis
1574:Nevus flammeus nuchae
1485:Template:Phakomatoses
1457:Hereditary lymphedema
1021:Rapp–Hodgkin syndrome
710:Congenital ichthyosis
485:10.1056/NEJMoa1714322
98:
3588:Loeys–Dietz syndrome
2830:Myotonic dystrophy 1
2327:Lujan–Fryns syndrome
1994:Lesch–Nyhan syndrome
1932:Adrenoleukodystrophy
1830:Properdin deficiency
1564:Capillary hemangioma
1466:Urticaria pigmentosa
1224:Howel–Evans syndrome
984:Ectodermal dysplasia
925:Generalized atrophic
81:ectodermal dysplasia
2129:X-linked ichthyosis
1251:Tyrosinemia type II
801:X-linked ichthyosis
759:Lamellar ichthyosis
732:Ichthyosis vulgaris
715:erythrokeratodermia
226:Notable individuals
3558:TGF beta receptors
2960:Metachondromatosis
2656:Joubert syndrome 8
2591:Carpenter syndrome
2426:Guanine nucleotide
2416:Tuberous sclerosis
2302:Fragile X syndrome
2112:and related tissue
1779:X-linked recessive
1634:Congenital lip pit
1198:Haim–Munk syndrome
1150:Vohwinkel syndrome
1025:Hay–Wells syndrome
1001:Hay–Wells syndrome
847:Ichthyosis hystrix
773:Netherton syndrome
628:External resources
177:X-linked recessive
105:
4166:
4165:
3938:
3937:
3622:
3621:
3472:Hypochondroplasia
3448:Pfeiffer syndrome
3424:Pfeiffer syndrome
3376:
3375:
3136:
3135:
2970:
2969:
2950:Noonan syndrome 1
2844:Seckel syndrome 1
2680:
2679:
2555:Noonan syndrome 3
2541:Costello syndrome
2459:
2458:
2349:
2348:
2345:
2344:
2281:X-linked dominant
2270:
2269:
2230:No primary system
1731:
1730:
1727:
1726:
1659:Median raphe cyst
1619:Bronchogenic cyst
1541:PHACE association
1505:
1504:
1424:
1423:
1416:Keratosis pilaris
1360:Keratosis pilaris
1314:Carvajal syndrome
1294:Spiny keratoderma
959:Costello syndrome
855:
854:
651:
650:
478:(17): 1604–1610.
401:10.1111/bcp.14301
394:(10): 2063–2069.
129:Mutations in the
74:
73:
16:Medical condition
4211:
3965:
3958:
3951:
3942:
3941:
3492:Donohue syndrome
3452:Crouzon syndrome
3412:Robinow syndrome
3394:
3393:
3190:
3189:
3163:
3156:
3149:
3140:
3139:
2955:LEOPARD syndrome
2858:Oguchi disease 2
2759:Serine/threonine
2747:ZAP70 deficiency
2714:
2713:
2470:
2469:
2394:
2393:
2376:
2369:
2362:
2353:
2352:
2307:Aicardi syndrome
2276:
2275:
1774:
1773:
1758:
1751:
1744:
1735:
1734:
1546:Sinus pericranii
1516:
1515:
1372:Darier's disease
1181:Olmsted syndrome
1092:
1091:
992:Naegeli syndrome
964:Kindler syndrome
720:
719:
706:
705:
678:
671:
664:
655:
654:
537:
536:
506:
505:
487:
463:
457:
456:
454:
453:
438:
432:
431:
421:
403:
379:
373:
372:
370:
369:
360:. Archived from
350:
344:
343:
341:
340:
330:
324:
309:
303:
288:
232:Michael Berryman
101:Michael Berryman
70:
69:
61:Medical genetics
45:
19:
18:
4219:
4218:
4214:
4213:
4212:
4210:
4209:
4208:
4169:
4168:
4167:
4162:
4103:
4071:
4053:
4035:
4017:
3999:
3976:
3969:
3939:
3934:
3838:Other/ungrouped
3833:
3814:Osteopetrosis 1
3760:
3675:
3618:
3593:
3530:
3480:Muenke syndrome
3386:
3384:
3372:
3349:
3326:
3303:
3181:
3173:
3167:
3137:
3132:
3120:
3025:
2966:
2917:Cowden syndrome
2891:
2884:
2760:
2753:
2718:Tyrosine kinase
2698:
2676:
2519:
2455:
2428:exchange factor
2427:
2420:
2411:Watson syndrome
2383:
2380:
2350:
2341:
2283:
2266:
2242:McLeod syndrome
2225:
2203:
2189:Alport syndrome
2175:
2138:
2104:
2065:Ocular albinism
2015:
1981:Hunter syndrome
1894:
1862:
1834:
1781:
1768:
1762:
1732:
1723:
1585:Other/ungrouped
1580:
1569:Port-wine stain
1550:
1511:
1501:
1420:
1343:
1085:
1076:
1029:
978:
863:
851:
805:
787:
736:
713:
695:
682:
652:
647:
646:
623:
622:
548:
515:
510:
509:
464:
460:
451:
449:
440:
439:
435:
380:
376:
367:
365:
352:
351:
347:
338:
336:
332:
331:
327:
310:
306:
289:
285:
280:
262:Albert Touraine
248:
240:character actor
228:
219:
210:
190:
173:
127:
93:
64:
17:
12:
11:
5:
4217:
4207:
4206:
4201:
4196:
4191:
4186:
4181:
4179:Genodermatoses
4164:
4163:
4161:
4160:
4155:
4153:
4149:
4148:
4136:
4124:
4111:
4109:
4105:
4104:
4102:
4101:
4100:
4099:
4094:
4081:
4079:
4073:
4072:
4070:
4069:
4063:
4061:
4055:
4054:
4052:
4051:
4045:
4043:
4037:
4036:
4034:
4033:
4027:
4025:
4019:
4018:
4016:
4015:
4009:
4007:
4001:
4000:
3998:
3997:
3992:
3986:
3984:
3978:
3977:
3971:Extracellular
3968:
3967:
3960:
3953:
3945:
3936:
3935:
3933:
3932:
3927:
3923:
3922:
3910:
3898:
3873:
3872:
3867:
3862:
3852:
3851:
3841:
3839:
3835:
3834:
3832:
3831:
3818:
3817:
3806:Worth syndrome
3797:
3785:
3768:
3766:
3765:Lipid receptor
3762:
3761:
3759:
3758:
3746:
3734:
3722:
3710:
3698:
3685:
3683:
3677:
3676:
3674:
3673:
3662:
3661:
3649:
3646:Laron syndrome
3632:
3630:
3624:
3623:
3620:
3619:
3617:
3616:
3603:
3601:
3595:
3594:
3592:
3591:
3577:
3554:
3553:
3540:
3538:
3532:
3531:
3529:
3528:
3521:KIT Piebaldism
3512:
3500:
3494:
3483:
3468:Achondroplasia
3459:
3440:Apert syndrome
3431:
3415:
3402:
3400:
3391:
3378:
3377:
3374:
3373:
3371:
3370:
3357:
3355:
3351:
3350:
3348:
3347:
3334:
3332:
3328:
3327:
3325:
3324:
3311:
3309:
3305:
3304:
3302:
3301:
3289:
3277:
3257:
3245:
3229:
3209:
3196:
3194:
3187:
3175:
3174:
3166:
3165:
3158:
3151:
3143:
3134:
3133:
3125:
3122:
3121:
3119:
3118:
3117:
3116:
3104:
3103:
3102:
3090:
3089:
3088:
3076:
3075:
3074:
3072:Carney complex
3062:
3061:
3060:
3048:
3047:
3046:
3033:
3031:
3027:
3026:
3024:
3023:
3022:
3021:
3009:
3008:
3007:
2995:
2994:
2993:
2980:
2978:
2972:
2971:
2968:
2967:
2965:
2964:
2963:
2962:
2957:
2952:
2940:
2939:
2938:
2926:
2925:
2924:
2919:
2914:
2909:
2896:
2894:
2886:
2885:
2883:
2882:
2881:
2880:
2862:
2861:
2860:
2848:
2847:
2846:
2834:
2833:
2832:
2822:
2821:
2820:
2808:
2807:
2806:
2794:
2793:
2792:
2780:
2779:
2778:
2765:
2763:
2755:
2754:
2752:
2751:
2750:
2749:
2737:
2736:
2735:
2722:
2720:
2711:
2700:
2699:
2697:
2696:
2690:
2688:
2682:
2681:
2678:
2677:
2675:
2674:
2673:
2672:
2660:
2659:
2658:
2646:
2645:
2644:
2627:
2626:
2625:
2624:
2610:
2609:
2608:
2607:
2595:
2594:
2593:
2581:
2580:
2579:
2565:
2564:
2563:
2562:
2557:
2545:
2544:
2543:
2529:
2527:
2521:
2520:
2518:
2517:
2512:
2507:
2502:
2497:
2492:
2478:
2476:
2467:
2461:
2460:
2457:
2456:
2454:
2453:
2448:
2443:
2438:
2432:
2430:
2422:
2421:
2419:
2418:
2413:
2408:
2402:
2400:
2391:
2385:
2384:
2379:
2378:
2371:
2364:
2356:
2347:
2346:
2343:
2342:
2340:
2339:
2334:
2329:
2324:
2322:CHILD syndrome
2319:
2314:
2309:
2304:
2299:
2294:
2288:
2285:
2284:
2272:
2271:
2268:
2267:
2265:
2264:
2259:
2254:
2249:
2244:
2239:
2237:Barth syndrome
2233:
2231:
2227:
2226:
2224:
2223:
2217:
2215:
2205:
2204:
2202:
2201:
2196:
2194:Dent's disease
2191:
2185:
2183:
2177:
2176:
2174:
2173:
2168:
2163:
2158:
2148:
2146:
2140:
2139:
2137:
2136:
2131:
2126:
2121:
2115:
2113:
2106:
2105:
2103:
2102:
2097:
2092:
2083:
2082:
2077:
2075:Norrie disease
2072:
2062:
2057:Eye disorders:
2053:
2052:
2047:
2042:
2037:
2025:
2023:
2021:Nervous system
2017:
2016:
2014:
2013:
2007:Menkes disease
1997:
1996:
1984:
1983:
1971:
1970:
1958:
1957:
1952:
1947:
1935:
1934:
1922:
1921:
1916:
1904:
1902:
1896:
1895:
1893:
1892:
1887:
1882:
1872:
1870:
1864:
1863:
1861:
1860:
1855:
1850:
1844:
1842:
1836:
1835:
1833:
1832:
1827:
1822:
1817:
1812:
1807:
1802:
1797:
1791:
1789:
1783:
1782:
1770:
1769:
1761:
1760:
1753:
1746:
1738:
1729:
1728:
1725:
1724:
1722:
1721:
1716:
1711:
1706:
1701:
1696:
1691:
1686:
1684:Poland anomaly
1681:
1676:
1671:
1669:Mongolian spot
1666:
1661:
1656:
1651:
1646:
1641:
1636:
1631:
1626:
1621:
1616:
1610:
1609:
1604:
1602:Branchial cyst
1599:
1594:
1588:
1586:
1582:
1581:
1579:
1578:
1577:
1576:
1566:
1560:
1558:
1552:
1551:
1549:
1548:
1543:
1538:
1533:
1528:
1522:
1520:
1513:
1507:
1506:
1503:
1502:
1476:
1475:
1470:
1469:
1468:
1459:
1447:
1446:
1445:
1432:
1430:
1426:
1425:
1422:
1421:
1419:
1418:
1413:
1408:
1403:
1398:
1393:
1387:
1386:
1384:Lelis syndrome
1381:
1376:
1375:
1374:
1362:
1357:
1355:Meleda disease
1351:
1349:
1345:
1344:
1342:
1341:
1340:
1339:
1330:
1318:
1317:
1316:
1304:
1297:
1296:
1291:
1286:
1281:
1276:
1271:
1266:
1256:
1255:
1254:
1253:
1248:
1243:
1242:
1241:
1236:
1226:
1221:
1216:
1207:
1205:Camisa disease
1202:
1201:
1200:
1195:
1183:
1178:
1173:
1172:
1171:
1169:Naxos syndrome
1159:
1154:
1153:
1152:
1147:
1142:
1126:
1125:
1123:Meleda disease
1120:
1115:
1110:
1100:
1098:
1089:
1082:Hyperkeratosis
1078:
1077:
1075:
1074:
1069:
1064:
1059:
1049:
1043:
1041:
1031:
1030:
1028:
1027:
1018:
1013:
1008:
1003:
998:
988:
986:
980:
979:
977:
976:
971:
966:
961:
954:
953:
952:
951:
946:
935:
934:
933:
932:
927:
922:
917:
906:
905:
904:
903:
898:
893:
888:
883:
878:
867:
865:
857:
856:
853:
852:
850:
849:
844:
839:
834:
829:
824:
819:
813:
811:
807:
806:
804:
803:
797:
795:
789:
788:
786:
785:
780:
778:CHIME syndrome
775:
769:
768:
767:
766:
756:
746:
744:
738:
737:
735:
734:
728:
726:
717:
703:
701:Genodermatosis
697:
696:
681:
680:
673:
666:
658:
649:
648:
645:
644:
632:
631:
629:
625:
624:
621:
620:
609:
598:
580:
565:
549:
544:
543:
541:
540:Classification
534:
533:
521:
514:
513:External links
511:
508:
507:
458:
433:
374:
345:
325:
304:
282:
281:
279:
276:
275:
274:
269:
264:
259:
254:
247:
244:
243:
242:
227:
224:
218:
215:
209:
206:
194:clinical study
189:
186:
172:
171:EDA (X-linked)
169:
126:
123:
92:
89:
72:
71:
58:
52:
51:
47:
46:
38:
37:
28:
24:
23:
15:
9:
6:
4:
3:
2:
4216:
4205:
4202:
4200:
4199:Rare diseases
4197:
4195:
4192:
4190:
4187:
4185:
4182:
4180:
4177:
4176:
4174:
4159:
4156:
4154:
4151:
4150:
4146:
4142:
4141:
4137:
4134:
4130:
4129:
4125:
4122:
4118:
4117:
4113:
4112:
4110:
4106:
4098:
4095:
4093:
4090:
4089:
4088:
4087:
4083:
4082:
4080:
4078:
4074:
4068:
4065:
4064:
4062:
4060:
4056:
4050:
4047:
4046:
4044:
4042:
4038:
4032:
4029:
4028:
4026:
4024:
4020:
4014:
4011:
4010:
4008:
4006:
4002:
3996:
3993:
3991:
3988:
3987:
3985:
3983:
3979:
3974:
3966:
3961:
3959:
3954:
3952:
3947:
3946:
3943:
3931:
3928:
3925:
3924:
3920:
3916:
3915:
3911:
3908:
3904:
3903:
3899:
3896:
3892:
3891:
3887:
3886:
3885:
3883:
3879:
3878:
3871:
3868:
3866:
3863:
3861:
3857:
3854:
3853:
3850:
3846:
3843:
3842:
3840:
3836:
3829:
3825:
3824:
3820:
3819:
3815:
3811:
3807:
3803:
3802:
3798:
3795:
3791:
3790:
3786:
3783:
3779:
3778:
3773:
3770:
3769:
3767:
3763:
3756:
3752:
3751:
3747:
3744:
3740:
3739:
3735:
3732:
3728:
3727:
3723:
3720:
3716:
3715:
3711:
3708:
3704:
3703:
3699:
3696:
3692:
3691:
3687:
3686:
3684:
3682:
3678:
3671:
3667:
3664:
3663:
3659:
3655:
3654:
3650:
3647:
3643:
3642:
3637:
3634:
3633:
3631:
3629:
3625:
3614:
3610:
3609:
3605:
3604:
3602:
3600:
3596:
3589:
3585:
3581:
3578:
3575:
3571:
3567:
3563:
3559:
3556:
3555:
3551:
3547:
3546:
3542:
3541:
3539:
3537:
3533:
3526:
3522:
3518:
3517:
3513:
3510:
3506:
3505:
3501:
3498:
3495:
3493:
3489:
3488:
3484:
3481:
3477:
3473:
3469:
3465:
3464:
3460:
3457:
3453:
3449:
3445:
3441:
3437:
3436:
3432:
3429:
3425:
3421:
3420:
3416:
3413:
3409:
3408:
3404:
3403:
3401:
3399:
3395:
3392:
3389:
3388:growth factor
3383:
3379:
3368:
3364:
3363:
3359:
3358:
3356:
3352:
3345:
3341:
3340:
3336:
3335:
3333:
3329:
3322:
3318:
3317:
3313:
3312:
3310:
3306:
3299:
3295:
3294:
3290:
3287:
3283:
3282:
3278:
3275:
3271:
3267:
3266:ABCD syndrome
3263:
3262:
3258:
3255:
3251:
3250:
3246:
3243:
3239:
3235:
3234:
3230:
3227:
3223:
3219:
3215:
3214:
3210:
3207:
3203:
3202:
3198:
3197:
3195:
3191:
3188:
3185:
3180:
3176:
3171:
3164:
3159:
3157:
3152:
3150:
3145:
3144:
3141:
3131:
3130:
3123:
3115:
3112:
3111:
3110:
3109:
3105:
3101:
3098:
3097:
3096:
3095:
3091:
3087:
3084:
3083:
3082:
3081:
3077:
3073:
3070:
3069:
3068:
3067:
3063:
3059:
3056:
3055:
3054:
3053:
3049:
3045:
3042:
3041:
3040:
3039:
3035:
3034:
3032:
3028:
3020:
3017:
3016:
3015:
3014:
3010:
3006:
3003:
3002:
3001:
3000:
2996:
2992:
2989:
2988:
2987:
2986:
2982:
2981:
2979:
2977:
2973:
2961:
2958:
2956:
2953:
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2937:
2934:
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2898:
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2835:
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2777:
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2671:
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2647:
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2640:
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2623:
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2619:
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2617:
2612:
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2601:
2600:
2596:
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2567:
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2522:
2516:
2513:
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2508:
2506:
2503:
2501:
2498:
2496:
2493:
2491:
2487:
2483:
2480:
2479:
2477:
2475:
2474:Heterotrimeic
2471:
2468:
2466:
2462:
2452:
2449:
2447:
2444:
2442:
2439:
2437:
2434:
2433:
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2423:
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2404:
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2377:
2372:
2370:
2365:
2363:
2358:
2357:
2354:
2338:
2335:
2333:
2330:
2328:
2325:
2323:
2320:
2318:
2317:Rett syndrome
2315:
2313:
2310:
2308:
2305:
2303:
2300:
2298:
2295:
2293:
2290:
2289:
2286:
2282:
2277:
2273:
2263:
2260:
2258:
2255:
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2250:
2248:
2245:
2243:
2240:
2238:
2235:
2234:
2232:
2228:
2222:
2219:
2218:
2216:
2214:
2210:
2206:
2200:
2197:
2195:
2192:
2190:
2187:
2186:
2184:
2182:
2178:
2172:
2169:
2167:
2164:
2162:
2159:
2157:
2153:
2150:
2149:
2147:
2145:
2144:Neuromuscular
2141:
2135:
2132:
2130:
2127:
2125:
2122:
2120:
2117:
2116:
2114:
2111:
2107:
2101:
2098:
2096:
2093:
2091:
2088:
2085:
2084:
2081:
2080:Choroideremia
2078:
2076:
2073:
2070:
2066:
2063:
2061:
2058:
2055:
2054:
2051:
2048:
2046:
2043:
2041:
2040:MASA syndrome
2038:
2036:
2033:
2031:
2027:
2026:
2024:
2022:
2018:
2012:
2008:
2005:
2003:
1999:
1998:
1995:
1992:
1990:
1986:
1985:
1982:
1979:
1977:
1973:
1972:
1969:
1968:Fabry disease
1965:
1964:
1960:
1959:
1956:
1953:
1951:
1948:
1946:
1943:
1941:
1937:
1936:
1933:
1930:
1928:
1924:
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1917:
1915:
1912:
1910:
1906:
1905:
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1897:
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1888:
1886:
1883:
1881:
1877:
1874:
1873:
1871:
1869:
1865:
1859:
1856:
1854:
1853:Haemophilia B
1851:
1849:
1848:Haemophilia A
1846:
1845:
1843:
1841:
1837:
1831:
1828:
1826:
1823:
1821:
1818:
1816:
1813:
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1803:
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1798:
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1612:
1611:
1608:
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1593:
1590:
1589:
1587:
1583:
1575:
1572:
1571:
1570:
1567:
1565:
1562:
1561:
1559:
1557:
1553:
1547:
1544:
1542:
1539:
1537:
1534:
1532:
1531:Encephalocele
1529:
1527:
1524:
1523:
1521:
1517:
1514:
1510:Developmental
1508:
1500:
1499:
1498:
1493:
1492:
1487:
1486:
1482:
1474:
1473:Hailey–Hailey
1471:
1467:
1463:
1460:
1458:
1455:
1454:
1453:
1452:
1451:immune system
1448:
1444:
1441:
1440:
1439:
1438:
1434:
1433:
1431:
1427:
1417:
1414:
1412:
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1222:
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1211:
1208:
1206:
1203:
1199:
1196:
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1188:
1184:
1182:
1179:
1177:
1174:
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1138:
1137:
1136:
1135:
1131:
1130:
1128:
1127:
1124:
1121:
1119:
1116:
1114:
1111:
1109:
1105:
1102:
1101:
1099:
1097:
1093:
1090:
1088:
1087:keratinopathy
1083:
1079:
1073:
1070:
1068:
1065:
1063:
1060:
1057:
1053:
1050:
1048:
1045:
1044:
1042:
1040:
1036:
1032:
1026:
1022:
1019:
1017:
1014:
1012:
1009:
1007:
1004:
1002:
999:
997:
993:
990:
989:
987:
985:
981:
975:
972:
970:
967:
965:
962:
960:
956:
955:
950:
947:
945:
942:
941:
940:
937:
936:
931:
928:
926:
923:
921:
918:
916:
913:
912:
911:
908:
907:
902:
899:
897:
894:
892:
889:
887:
884:
882:
879:
877:
874:
873:
872:
869:
868:
866:
862:
858:
848:
845:
843:
840:
838:
835:
833:
830:
828:
825:
823:
820:
818:
815:
814:
812:
808:
802:
799:
798:
796:
794:
790:
784:
781:
779:
776:
774:
771:
770:
765:
762:
761:
760:
757:
755:
751:
748:
747:
745:
743:
739:
733:
730:
729:
727:
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721:
718:
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711:
707:
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702:
698:
694:
690:
686:
679:
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672:
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665:
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659:
656:
643:
639:
638:
634:
633:
630:
626:
619:
615:
614:
610:
608:
604:
603:
599:
597:
593:
590:
586:
585:
581:
579:
575:
574:
570:
566:
564:
560:
559:
555:
551:
550:
547:
542:
538:
531:
527:
526:
522:
520:
517:
516:
503:
499:
495:
491:
486:
481:
477:
473:
469:
462:
447:
443:
437:
429:
425:
420:
415:
411:
407:
402:
397:
393:
389:
385:
378:
364:on 2018-04-29
363:
359:
355:
349:
335:
329:
322:
321:0-07-138076-0
318:
314:
308:
301:
300:0-7216-2921-0
297:
293:
287:
283:
273:
270:
268:
265:
263:
260:
258:
255:
253:
250:
249:
241:
237:
233:
230:
229:
223:
214:
205:
201:
199:
195:
185:
181:
178:
168:
165:
163:
158:
154:
150:
146:
145:
140:
139:
134:
133:
122:
119:
117:
112:
110:
102:
97:
88:
86:
82:
78:
68:
62:
59:
57:
53:
48:
44:
39:
36:
32:
29:
25:
20:
4138:
4126:
4114:
4084:
3989:
3912:
3900:
3888:
3881:
3875:
3874:
3821:
3799:
3787:
3775:
3748:
3736:
3724:
3712:
3700:
3688:
3681:TNF receptor
3651:
3639:
3606:
3543:
3514:
3502:
3485:
3461:
3433:
3417:
3405:
3360:
3337:
3314:
3291:
3279:
3259:
3247:
3231:
3211:
3199:
3172:deficiencies
3126:
3106:
3092:
3078:
3064:
3050:
3036:
3011:
2997:
2990:
2983:
2942:
2928:
2899:
2870:
2864:
2850:
2836:
2810:
2796:
2782:
2768:
2739:
2725:
2662:
2648:
2634:
2614:
2597:
2583:
2569:
2547:
2533:
2123:
2086:
2056:
2028:
2000:
1987:
1974:
1961:
1938:
1927:Dyslipidemia
1925:
1907:
1536:Nasal glioma
1526:Dermoid cyst
1495:
1489:
1478:
1477:
1462:Mastocytosis
1449:
1443:EEM syndrome
1435:
1364:
1320:
1306:
1185:
1161:
1132:
1005:
693:skin disease
635:
611:
600:
582:
567:
552:
523:
475:
471:
461:
450:. Retrieved
448:. 2016-12-07
445:
436:
391:
387:
377:
366:. Retrieved
362:the original
357:
348:
337:. Retrieved
328:
312:
307:
291:
286:
236:Saturn Award
220:
211:
202:
191:
182:
174:
166:
156:
152:
148:
142:
136:
130:
128:
120:
113:
109:hypohidrosis
106:
91:Presentation
76:
75:
34:
30:
3182:(including
2892:phosphatase
2709:phosphatase
1840:Hematologic
1699:Skin dimple
1308:desmoplakin
1300:ungrouped:
1187:Cathepsin C
1163:plakoglobin
864:and related
637:GeneReviews
238:-nominated
217:Terminology
27:Other names
4173:Categories
4077:Endothelin
4059:Fas ligand
3385:(including
3019:Zaspopathy
2686:MAP kinase
1909:Amino acid
1129:syndromic
1052:Cutis laxa
1039:Connective
689:integument
685:Congenital
613:DiseasesDB
452:2018-04-29
368:2018-04-29
339:2018-09-19
278:References
188:Treatments
116:hypodontia
4194:Syndromes
3975:disorders
3738:TNFRSF13B
3726:TNFRSF13C
3702:TNFRSF13B
3127:See also
3005:Cherubism
2525:Monomeric
2465:G protein
1900:Metabolic
1868:Endocrine
1767:disorders
1719:Birthmark
1512:anomalies
1479:see also
957:related:
810:Ungrouped
494:0028-4793
410:1365-2125
56:Specialty
4189:Ectoderm
4152:See also
3982:Cytokine
3926:See also
3856:Integrin
3690:TNFRSF1A
3628:JAK-STAT
3562:Endoglin
2890:Tyrosine
2181:Urologic
2156:Duchenne
1765:X-linked
1437:cadherin
1322:connexin
1260:punctate
1134:connexin
502:29694819
428:32250462
246:See also
162:mesoderm
125:Genetics
3849:AGM3, 6
3750:TNFRSF6
3714:TNFRSF5
3354:Class F
3331:Class C
3308:Class B
3193:Class A
3184:hormone
3066:PRKAR1A
3058:CADASIL
3052:Notch 3
2985:EDARADD
2770:RPS6KA3
2002:Mineral
1519:Midline
1104:diffuse
1035:Elastic
607:D053358
419:7495278
157:EDARADD
144:EDARADD
4049:OFC 11
4005:Ephrin
3973:ligand
3902:BMPR1A
3653:CSF2RA
3608:GUCY2D
3584:TGFBR2
3580:TGFBR1
3293:PTGER2
3094:PRKCSH
3080:PRKAG2
2999:SH3BP2
2944:PTPN11
2761:kinase
2705:kinase
2703:Other
2650:ARL13B
2087:Other:
1787:Immune
1366:ATP2A2
930:JEB-PA
901:EBS-MP
896:EBS-MD
891:EBS-OG
886:EBS-DM
881:EBS-WC
596:129490
592:224900
589:305100
578:757.31
500:
492:
426:
416:
408:
319:
298:
198:EDI200
155:, and
141:, and
99:Actor
63:
4128:BMP15
4108:Other
3914:IL2RG
3890:PTCH1
3743:CVID2
3731:CVID4
3570:SMAD4
3566:Alk-1
3545:AMHR2
3504:NTRK1
3463:FGFR3
3435:FGFR2
3419:FGFR1
3316:PTH1R
3281:AVPR2
3261:EDNRB
3249:GnRHR
3213:LHCGR
3114:XIAP2
3030:Other
2812:STK11
2798:IKBKG
2784:CHEK2
2741:ZAP70
2636:SAR1B
2613:RHO:
2599:RAB27
2585:RAB23
2568:RAB:
2532:RAS:
2515:CGL 2
2486:GNAS1
2213:tooth
2100:SMAX2
1556:Nevus
1429:Other
1348:Other
1210:focal
920:Mitis
915:JEB-H
876:EBS-K
618:29810
563:Q82.4
4140:TSHB
4086:EDN3
3877:EDAR
3860:LAD1
3823:LDLR
3801:LRP5
3789:LRP4
3777:LRP2
3536:STPK
3487:INSR
3407:ROR2
3362:FZD4
3339:CASR
3233:FSHR
3201:TSHR
3108:XIAP
3013:LDB3
2930:MTM1
2901:PTEN
2872:WNK1
2866:WNK4
2852:GRK1
2825:DMPK
2664:ARL6
2616:RAC2
2571:RAB7
2549:KRAS
2535:HRAS
2482:cAMP
2209:Bone
2110:Skin
2050:PHF8
1820:IPEX
949:RDEB
944:DDEB
602:MeSH
584:OMIM
573:9-CM
498:PMID
490:ISSN
424:PMID
406:ISSN
317:ISBN
296:ISBN
153:EDAR
138:EDAR
85:skin
4116:DHH
4041:TGF
4023:WNT
3772:LRP
3666:MPL
3516:KIT
3398:RTK
3038:NF2
2838:ATR
2727:BTK
2631:ARF
1337:KID
1333:HID
1096:PPK
939:DEB
910:JEB
871:EBS
594:,
569:ICD
554:ICD
530:NLM
528:at
480:doi
476:378
414:PMC
396:doi
196:of
149:EDA
132:EDA
4175::
3884:)
3858::
3847::
3812:,
3808:,
3774::
3641:GH
3638::
3599:GC
3560::
3523:,
3478:,
3474:,
3470:,
3454:,
3450:,
3446:,
3442:,
3426:,
3272:,
3268:,
3240:,
3224:,
3220:,
2633::
2488::
1966::
1494:,
1488:,
1483:,
1262::
1212::
1106::
861:EB
793:XR
752::
742:AR
724:AD
691:/
640::
616::
605::
587::
576::
561::
558:10
496:.
488:.
474:.
470:.
444:.
422:.
412:.
404:.
392:86
390:.
386:.
356:.
234:,
151:,
135:,
33:,
4147:)
4143:(
4135:)
4131:(
4123:)
4119:(
3964:e
3957:t
3950:v
3921:)
3917:(
3909:)
3905:(
3897:)
3893:(
3880:(
3830:)
3826:(
3816:)
3804:(
3796:)
3792:(
3784:)
3780:(
3757:)
3753:(
3745:)
3741:(
3733:)
3729:(
3721:)
3717:(
3709:)
3705:(
3697:)
3693:(
3672:)
3668:(
3660:)
3656:(
3648:)
3644:(
3615:)
3611:(
3590:)
3586:(
3582:/
3576:)
3572:(
3568:/
3564:/
3552:)
3548:(
3527:)
3519:(
3511:)
3507:(
3499:)
3490:(
3482:)
3466:(
3458:)
3438:(
3430:)
3422:(
3414:)
3410:(
3390:)
3369:)
3365:(
3346:)
3342:(
3323:)
3319:(
3300:)
3296:(
3288:)
3284:(
3276:)
3264:(
3256:)
3252:(
3244:)
3236:(
3228:)
3216:(
3208:)
3204:(
3186:)
3162:e
3155:t
3148:v
2869:/
2707:/
2484:/
2375:e
2368:t
2361:v
2211:/
2154:/
2071:)
2069:1
2067:(
2032::
2009:/
2004::
1991::
1978::
1942::
1929::
1911::
1878:/
1757:e
1750:t
1743:v
1464:/
1335:/
1084:/
1058:)
1054:(
1037:/
1023:/
994:/
712:/
677:e
670:t
663:v
571:-
556:-
546:D
504:.
482::
455:.
430:.
398::
371:.
342:.
323:.
302:.
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