Skin Diseases Category (2484 diseases)


Including: Skin, Integument, Epidermis, Derma, Melanoma
See other categories (disease lists)

# Family MCID Name MIFTS
1 PLM102 Palmoplantar Keratoderma, Epidermolytic 50
2 EPD002 Epidermolytic Hyperkeratosis 56
3 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 46
4 c ATS013 Autosomal Recessive Congenital Ichthyosis 63
5 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 49
6 c ICH023 Ichthyosis, Acquired 34
7 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 52
8 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 48
9 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46
10 XRD010 Xeroderma Pigmentosum, Variant Type 71
11 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 29
12 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 52
13 SKN019 Skin Melanoma 67
14 P PLN008 Peeling Skin Syndrome 42
15 c PLN018 Peeling Skin Syndrome 2 37
16 DYS002 Dysplastic Nevus Syndrome 37
17 P EPD009 Epidermolysis Bullosa Dystrophica 58
18 ADR038 Adermatoglyphia 41
19 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 23
20 P MLN066 Melanoma, Cutaneous Malignant 1 65
21 FCL009 Focal Dermal Hypoplasia 58
22 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 47
23 DRM014 Dermatofibrosarcoma Protuberans 65
24 P DRM010 Dermatomyositis 66
25 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 50
26 P JNC001 Junctional Epidermolysis Bullosa 48
27 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 46
28 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 33
29 NVS017 Nevus, Epidermal 67
30 ACR014 Acral Lentiginous Melanoma 49
31 KND001 Kindler Syndrome 51
32 P DRM053 Dermatitis, Atopic 73
33 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 53
34 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42
35 c PLN017 Peeling Skin Syndrome 1 35
36 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 27
37 P SKN015 Skin Carcinoma 65
38 OCL022 Ocular Melanoma 55
39 c XRD031 Xeroderma Pigmentosum, Complementation Group F 54
40 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48
41 INF057 Inflammatory Linear Verrucous Epidermal Nevus 26
42 c XRD023 Xeroderma Pigmentosum, Complementation Group G 51
43 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 43
44 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 22
45 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 26
46 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 23
47 P XRD029 Xeroderma Pigmentosum, Complementation Group a 53
48 PLM135 Palmoplantar Keratoderma, Bothnian Type 35
49 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 33
50 KRT022 Keratoderma Palmoplantar Spastic Paralysis 9
51 c XRD030 Xeroderma Pigmentosum, Complementation Group C 54
52 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 53
53 DGS008 Digestive System Melanoma 13
54 MLN008 Melanoma 64
55 P DRM007 Dermatitis Herpetiformis 54
56 P EPD083 Epidermodysplasia Verruciformis 1 52
57 ATR054 Atrophoderma Vermiculata 29
58 PGM028 Pigmented Purpuric Dermatosis 23
59 PRM139 Primary Melanoma of the Central Nervous System 11
60 CHL028 Childhood Type Dermatomyositis 59
61 EPD029 Epidermolysis Bullosa Simplex, Generalized 44
62 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 38
63 KRT023 Keratoderma Palmoplantaris Transgrediens 11
64 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 10
65 SKN016 Skin Disease 68
66 RTH001 Rothmund-Thomson Syndrome 62
67 P XRD022 Xeroderma Pigmentosum, Complementation Group D 54
68 P FCL023 Focal Facial Dermal Dysplasia 23
69 UNN001 Unna-Thost Palmoplantar Keratoderma 13
70 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 11
71 P SYS005 Systemic Scleroderma 70
72 c LCL006 Localized Scleroderma 65
73 c DRM054 Dermatitis, Atopic, 2 35
74 NTR042 Neutrophilic Dermatosis, Acute Febrile 34
75 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 30
76 c MLN043 Melanoma, Cutaneous Malignant 8 28
77 CTN004 Cutaneous Fibrous Histiocytoma 49
78 SVR097 Severe Cutaneous Adverse Reaction 69
79 LPD014 Lipodermatosclerosis 42
80 PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 23
81 ERY049 Erythroderma, Lethal Congenital 18
82 c XRD021 Xeroderma Pigmentosum, Complementation Group E 45
83 c EPD030 Epidermolysis Bullosa Simplex, Localized 44
84 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
85 CRN070 Corneodermatoosseous Syndrome 22
86 PLM029 Palmoplantar Keratosis 47
87 P VHW001 Vohwinkel Syndrome 41
88 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 34
89 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 17
90 P KRT018 Keratosis Palmoplantaris Striata Iii 16
91 CNT047 Contact Dermatitis 64
92 SBC012 Subcorneal Pustular Dermatosis 48
93 EPD025 Epidermolysis Bullosa with Pyloric Atresia 29
94 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 26
95 DRM042 Dermatoosteolysis, Kirghizian Type 19
96 P ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 13
97 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 9
98 P MLN069 Melanoma, Uveal 61
99 c XRD032 Xeroderma Pigmentosum, Complementation Group B 51
100 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 46
101 c SBR001 Seborrheic Infantile Dermatitis 42
102 DGS002 Degos 'en Cocarde' Erythrokeratoderma 26
103 LNR005 Linear Scleroderma 26
104 ATR020 Atrophoderma of Pierini and Pasini 11
105 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 52
106 IRR003 Irritant Dermatitis 49
107 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 36
108 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 36
109 c KRT017 Keratosis Palmoplantaris Striata Ii 18
110 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 17
111 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 12
112 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
113 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 25
114 LMT001 Limited Scleroderma 51
115 ECZ002 Eczema Herpeticum 49
116 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 32
117 MLN070 Melanoma-Astrocytoma Syndrome 28
118 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 28
119 c MLN067 Melanoma, Cutaneous Malignant 2 21
120 c MLN075 Melanoma, Cutaneous Malignant 3 20
121 PRN056 Parana Hard-Skin Syndrome 18
122 c MLN077 Melanoma, Cutaneous Malignant 9 18
123 c DRM055 Dermatitis, Atopic, 3 16
124 c MLN076 Melanoma, Cutaneous Malignant 5 16
125 c MLN042 Melanoma, Cutaneous Malignant 6 15
126 P EPD003 Epidermolysis Bullosa Simplex 52
127 SKN013 Skin Benign Neoplasm 45
128 RTT001 Ritter's Disease 44
129 CLD014 Cole Disease 33
130 TRN029 Transient Bullous Dermolysis of the Newborn 28
131 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 19
132 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 11
133 c PRM047 Primary Malignant Melanoma of the Cervix 11
134 SKN004 Skin Amelanotic Melanoma 8
135 STF002 Stiff Skin Syndrome 55
136 SKN005 Skin Atrophy 42
137 AML001 Amelanotic Melanoma 42
138 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 38
139 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 28
140 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
141 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 19
142 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 14
143 GNR027 Generalized Peeling Skin Syndrome 11
144 P SBR004 Seborrheic Dermatitis 42
145 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 38
146 MLG005 Malignant Spindle Cell Melanoma 36
147 TXC003 Toxicodendron Dermatitis 30
148 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 25
149 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 20
150 c DRM060 Dermatitis, Atopic, 8 13
151 c PST022 Posterior Uveal Melanoma 45
152 WRN004 Wrinkly Skin Syndrome 34
153 DRM021 Dermatopathia Pigmentosa Reticularis 28
154 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 16
155 c PLN016 Peeling Skin Syndrome Type a 15
156 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 15
157 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 13
158 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 8
159 DRM006 Dermatitis 69
160 P CTS001 Cutis Laxa 62
161 EPD006 Epidermolysis Bullosa Acquisita 53
162 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
163 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
164 TNN002 Tinea Unguium 38
165 LNT002 Lentigo Maligna Melanoma 37
166 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
167 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
168 CRC001 Cercarial Dermatitis 36
169 PLM137 Palmoplantar Keratoderma and Woolly Hair 35
170 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
171 GRN032 Granulomatous Slack Skin Disease 33
172 c ACQ027 Acquired Cutis Laxa 30
173 c VHW003 Vohwinkel Syndrome, Variant Form 28
174 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
175 SKN024 Skin Fragility-Woolly Hair Syndrome 24
176 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 24
177 c FCL046 Focal Facial Dermal Dysplasia 4 22
178 c ATP003 Atp6v0a2-Related Cutis Laxa 21
179 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 21
180 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 20
181 SPR033 Superficial Spreading Melanoma 20
182 c LTB003 Ltbp4-Related Cutis Laxa 16
183 c MLN074 Melanoma, Cutaneous Malignant 4 15
184 c EFM001 Efemp2-Related Cutis Laxa 14
185 c FBL003 Fbln5-Related Cutis Laxa 8
186 SKN027 Skin Conditions 51
187 RYN003 Reynolds Syndrome 47
188 SKN022 Skin Squamous Cell Carcinoma 47
189 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 42
190 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 42
191 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 40
192 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 38
193 EPD022 Epidermolysis Bullosa Pruriginosa 38
194 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 37
195 PHT004 Photoallergic Dermatitis 34
196 XRD027 Xeroderma Pigmentosum Group E 32
197 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 30
198 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 24
199 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 23
200 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 20
201 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 20
202 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 20
203 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 20
204 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 19
205 c DRM057 Dermatitis, Atopic, 5 14
206 c DRM059 Dermatitis, Atopic, 7 13
207 c DRM058 Dermatitis, Atopic, 6 13
208 c DRM061 Dermatitis, Atopic, 9 13
209 c DRM056 Dermatitis, Atopic, 4 12
210 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 7
211 PYD001 Pyoderma Gangrenosum 58
212 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 46
213 MLG142 Malignant Conjunctival Melanoma 45
214 SKN023 Skin Tag 43
215 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 38
216 SKN018 Skin Hemangioma 36
217 ACR005 Acrodermatitis 35
218 NDL001 Nodular Malignant Melanoma 35
219 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 35
220 DRM008 Dermatographia 34
221 NRT002 Neurotic Excoriation 32
222 HRZ001 Huriez Syndrome 26
223 EPD082 Epidermolytic Nevus 23
224 BSN001 Basan Syndrome 22
225 ATM026 Autoimmune Progesterone Dermatitis 22
226 EPD010 Epidermal Appendage Tumor 18
227 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 18
228 TRC111 Trichodysplasia-Xeroderma 17
229 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 17
230 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
231 FCL036 Focal Palmoplantar and Gingival Keratoderma 14
232 RDS002 Red Skin Pigment Anomaly of New Guinea 11
233 MLG052 Malignant Cornea Melanoma 8
234 EPD016 Epidermolysis Bullosa 58
235 ADL002 Adult Syndrome 55
236 MLN065 Melanocytic Nevus Syndrome, Congenital 54
237 BLS002 Blastomycosis 42
238 TNC003 Tinea Corporis 40
239 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32
240 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
241 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 20
242 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 18
243 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 18
244 c MLN055 Melanoma, Cutaneous Malignant 10 17
245 c PLN021 Peeling Skin Syndrome 3 17
246 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 15
247 c MLN040 Melanoma, Cutaneous Malignant 7 14
248 KRT062 Keratoderma with Woolly Hair 10
249 c SCL052 Scleroderma, Familial Progressive 68
250 DRM011 Dermatophytosis 50
251 c PSR021 Psoriasis 14, Pustular 48
252 BLL007 Bullous Skin Disease 42
253 DRM009 Dermatomycosis 36
254 ACR097 Acrodermatitis Chronica Atrophicans 28
255 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 25
256 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 22
257 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 19
258 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
259 c PSR022 Psoriasis 15, Pustular 17
260 SKN001 Skin Angiosarcoma 15
261 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 12
262 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 6
263 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
264 DFF003 Diffuse Scleroderma 46
265 PHT003 Phototoxic Dermatitis 44
266 c ADL027 Adult Dermatomyositis 38
267 P PHT010 Photoparoxysmal Response 1 37
268 MLG070 Malignant Iris Melanoma 37
269 MLG007 Malignant Skin Fibrous Histiocytoma 35
270 SKN020 Skin Papilloma 35
271 TNC001 Tinea Cruris 34
272 c PLN024 Peeling Skin Syndrome 4 32
273 OCC001 Occupational Dermatitis 31
274 MLG038 Malignant Anus Melanoma 31
275 ODN009 Odontoonychodermal Dysplasia 28
276 MLG061 Malignant Choroid Melanoma 26
277 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 25
278 MNN010 Meningeal Melanoma 24
279 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 23
280 LTN013 Late-Onset Focal Dermal Elastosis 21
281 SCL001 Scalp Dermatosis 19
282 PLM104 Palmoplantar Keratoderma, Nagashima Type 19
283 P SKN009 Skin Granular Cell Tumor 17
284 INF127 Infective Dermatitis Associated with Htlv-1 17
285 c EPD085 Epidermodysplasia Verruciformis 3 17
286 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 16
287 MLG062 Malignant Ciliary Body Melanoma 15
288 ACQ008 Acquired Hyperkeratosis 15
289 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
290 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 15
291 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 14
292 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 14
293 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 13
294 DYS044 Dysmorphism Cleft Palate Loose Skin 13
295 ESP016 Esophagus Melanoma 12
296 c MLG050 Malignant Granular Cell Skin Tumor 12
297 SKN008 Skin Glomus Tumor 11
298 c EPD084 Epidermodysplasia Verruciformis 2 11
299 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
300 RCT003 Rectum Malignant Melanoma 10
301 MLG008 Malignant Breast Melanoma 9
302 BSL002 Basaloid Squamous Cell Skin Carcinoma 9
303 c PLN027 Peeling Skin Syndrome Type C 9
304 c PHT011 Photoparoxysmal Response 3 8
305 c PHT009 Photoparoxysmal Response 2 8
306 RTN010 Retinal Melanoma 8
307 MXD040 Mixed Cell Uveal Melanoma 8
308 CHR448 Choroid Mixed Cell Melanoma 8
309 MLN071 Melanoma Tumor Antigen Gp90 7
310 BNG008 Benign Dermal Neurilemmoma 7
311 PLM046 Palmoplantar Keratoderma of Sybert 5
312 KZN001 Kuzniecky Andermann Syndrome 4
313 SKN026 Skin Cancer, Non Melanoma, Childhood 3
314 EPD070 Epidermoid Cysts 50
315 TNC002 Tinea Capitis 41
316 TNP001 Tinea Pedis 41
317 CHR463 Chronic Actinic Dermatitis 34
318 EXF003 Exfoliative Dermatitis 30
319 MLN046 Melanoma-Associated Retinopathy 25
320 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
321 KSK002 Kosaki Overgrowth Syndrome 23
322 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
323 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21
324 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
325 RMB001 Rombo Syndrome 19
326 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 17
327 ELS003 Elastoderma 17
328 IMM145 Immunodeficiency 11b with Atopic Dermatitis 17
329 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 16
330 CNG265 Congenital Erosive and Vesicular Dermatosis 15
331 c EPD086 Epidermodysplasia Verruciformis 4 15
332 c EPD087 Epidermodysplasia Verruciformis 5 14
333 DFF018 Diffuse Dermal Angiomatosis 13
334 PYD002 Pyoderma 53
335 CHR100 Chronic Ulcer of Skin 53
336 P PTY003 Pityriasis Rubra Pilaris 52
337 c DWL002 Dowling-Degos Disease 1 50
338 KWS001 Kwashiorkor 46
339 MCS006 Macs Syndrome 44
340 VSC012 Vesiculobullous Skin Disease 42
341 NCK004 Nickel Allergic Contact Dermatitis 37
342 PLL016 Palladium Allergic Contact Dermatitis 25
343 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
344 SKN002 Skin Lipoma 25
345 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 21
346 HYP346 Hypotrichosis and Recurrent Skin Vesicles 19
347 c PLN028 Peeling Skin Syndrome 6 18
348 c PLN025 Peeling Skin Syndrome 5 17
349 PRC021 Parc Syndrome 17
350 DPD001 Deep Dermatophytosis 16
351 JSS002 Jessner Lymphocytic Infiltration of the Skin 13
352 c DWL005 Dowling-Degos Disease 3 13
353 CHR011 Choroid Spindle Cell Melanoma 8
354 CBL009 Cobalt Allergic Contact Dermatitis 8
355 DRM002 Dermoid Cyst of Skin 8
356 ALL005 Allergic Contact Dermatitis of Eyelid 8
357 FRM010 Formaldehyde Allergic Contact Dermatitis 6
358 BNZ004 Benzoic Acid Allergic Contact Dermatitis 6
359 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 6
360 KTP001 Ketoprofen Photoallergic Dermatitis 5
361 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5
362 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 5
363 CRV076 Carvone Allergic Contact Dermatitis 5
364 PRT137 Parthenolide Allergic Contact Dermatitis 5
365 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 5
366 P PSR002 Psoriasis 67
367 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 65
368 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48
369 MLN013 Melanoma Metastasis 43
370 ANG016 Angiokeratoma 41
371 ACN003 Acneiform Dermatitis 41
372 c DRM040 Dermatitis Herpetiformis, Familial 39
373 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 39
374 VLV020 Vulvar Melanoma 39
375 MNN008 Meningeal Melanomatosis 37
376 CTN001 Cutaneous Solitary Mastocytoma 34
377 SKN010 Skin Epithelioid Hemangioma 33
378 WND001 Wound Botulism 31
379 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 30
380 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29
381 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
382 TNP002 Tinea Profunda 26
383 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26
384 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
385 ERS002 Erosive Pustular Dermatosis of the Scalp 25
386 FCL001 Facial Dermatosis 23
387 TNM002 Tinea Manuum 23
388 ORB015 Orbital Melanoma 22
389 EPT001 Epithelioid Cell Melanoma 22
390 JNC002 Junctional Epidermolysis Bullosa Inversa 22
391 GRW032 Growth Factors, Combined Defect of 22
392 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 22
393 SPN047 Spindle Cell Intraocular Melanoma 22
394 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
395 HND001 Hand Dermatosis 21
396 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
397 VSC009 Vascular Skin Disease 20
398 TNB001 Tinea Barbae 20
399 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 19
400 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 18
401 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
402 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
403 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 18
404 P PRM145 Primary Anetoderma 17
405 GLL012 Gallbladder Melanoma 17
406 DRM019 Dermatoleukodystrophy 16
407 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
408 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 15
409 SPN025 Spinal Cord Melanoma 15
410 c FML205 Familial Anetoderma 15
411 c PSR024 Psoriasis 3 15
412 DFF028 Diffuse Leptomeningeal Melanocytosis 14
413 c PSR027 Psoriasis 6 14
414 c PSR031 Psoriasis 10 14
415 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 13
416 LGD001 Leg Dermatosis 13
417 c PSR025 Psoriasis 4 13
418 c PSR026 Psoriasis 5 13
419 PKL003 Poikiloderma, Hereditary Sclerosing 13
420 ADM002 Adamantinoid Basal Cell Epithelioma 12
421 c PSR029 Psoriasis 9 12
422 c PSR030 Psoriasis 8 12
423 c MLN039 Melanoma, Uveal 1 11
424 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
425 MLG010 Malignant Eyelid Melanoma 11
426 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
427 CND003 Candidal Paronychia 11
428 c MLN041 Melanoma, Uveal 2 10
429 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 10
430 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 10
431 c PSR033 Psoriasis 12 10
432 SKN017 Skin Glomangioma 10
433 ERY005 Erythematosquamous Dermatosis 10
434 ACN008 Acantholytic Squamous Cell Skin Carcinoma 9
435 MGR041 Megarbane-Jalkh Syndrome 9
436 ECC006 Eccrine Mixed Tumor of Skin 8
437 CLR002 Ciliary Body Spindle Cell Melanoma 8
438 ISL103 Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 8
439 CHR045 Choroid Necrotic Melanoma 8
440 NNN006 Noninfectious Dermatoses of Eyelid 8
441 ADL009 Adult Leptomeningeal Melanoma 7
442 PDT007 Pediatric Leptomeningeal Melanoma 7
443 PRN012 Perianal Skin Paget's Disease 7
444 UVL002 Uveal Epithelioid Cell Melanoma 7
445 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 6
446 CLR010 Clear Cell Squamous Cell Skin Carcinoma 6
447 CHR014 Choroid Epithelioid Cell Melanoma 6
448 SQM001 Squamous Cell Papilloma of Skin 6
449 SKN007 Skin Meningioma 6
450 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
451 PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 6
452 SCR012 Scrotum Melanoma 5
453 DRM062 Dermoid or Epidermoid Cyst of the Central Nervous System 4
454 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 4
455 MSM009 Mesomelic Dysplasia Skin Dimples 3
456 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
457 TRC043 Tricho Odonto Onycho Dermal Syndrome 2
458 PRM048 Primary Malignant Melanoma of the Conjunctiva 2
459 MLG096 Malignant Melanoma, Childhood 2
460 XRD011 Xeroderma Talipes Enamel Defects 2
461 DRM018 Dermatocardioskeletal Syndrome Boronne Type 2
462 PNC058 Punctate Acrokeratoderma Freckle Like Pigmentation 2
463 CDK001 Cdk4 Linked Melanoma 2
464 MCS004 Mucosal Melanoma 49
465 MLT016 Multicentric Reticulohistiocytosis 46
466 IMP004 Impetigo 46
467 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
468 RTC008 Reticulate Acropigmentation of Kitamura 43
469 ACT167 Acute Generalized Exanthematous Pustulosis 43
470 c PSR023 Psoriasis 1 42
471 CNT001 Contagious Pustular Dermatitis 39
472 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 39
473 NRD001 Neurodermatitis 38
474 DRM003 Dermatosis Papulosa Nigra 37
475 CHN002 Chancroid 36
476 ECC003 Eccrine Papillary Adenoma 36
477 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
478 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 34
479 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
480 c BRT028 Brittle Cornea Syndrome 1 29
481 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 28
482 c CRB100 Cerebrooculofacioskeletal Syndrome 4 28
483 c CRB099 Cerebrooculofacioskeletal Syndrome 3 27
484 c CRB098 Cerebrooculofacioskeletal Syndrome 2 27
485 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 24
486 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23
487 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
488 VRR003 Verruciform Xanthoma of Skin 20
489 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 17
490 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17
491 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 17
492 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
493 CNN005 Connective Tissue Disease 67
494 P CCK001 Cockayne Syndrome 66
495 RSC001 Rosacea 61
496 CLL003 Cellulitis 61
497 SCB001 Scabies 52
498 c CCK008 Cockayne Syndrome a 51
499 SQM002 Squamous Cell Papilloma 48
500 PGM003 Pigmentation Disease 48
501 c PCH012 Pachyonychia Congenita 2 47
502 PST053 Postherpetic Neuralgia 45
503 c PCH010 Pachyonychia Congenita 3 42
504 P PLY147 Polydactyly, Postaxial, Type A1 41
505 SNL003 Senile Angioma 38
506 ECC002 Eccrine Acrospiroma 38
507 LBM003 Lobomycosis 36
508 ACN010 Acanthoma 34
509 c PCH011 Pachyonychia Congenita 4 33
510 c CCK002 Cockayne Syndrome Type I 31
511 P ANG013 Angioma Serpiginosum 31
512 c CCK003 Cockayne Syndrome Type Ii 30
513 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 27
514 PRM206 Premature Aging Syndrome, Penttinen Type 27
515 c CCK004 Cockayne Syndrome Type Iii 26
516 ATM016 Autoimmune Disease of Skin and Connective Tissue 25
517 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
518 CMP060 Complement Component 9 Deficiency 23
519 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22
520 EPD004 Epidermolytic Acanthoma 22
521 PPL052 Papillomatosis, Confluent and Reticulated 21
522 EHL015 Ehlers-Danlos Syndrome Progeroid Type 20
523 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 19
524 CLL040 Callosities, Hereditary Painful 19
525 c DWL003 Dowling-Degos Disease 2 17
526 c PLY103 Polydactyly, Postaxial, Type A5 16
527 c PLY163 Polydactyly, Postaxial, Type A2 16
528 LNR009 Linear Atrophoderma of Moulin 16
529 FCL040 Focal Acral Hyperkeratosis 15
530 c PLY101 Polydactyly, Postaxial, Type A6 15
531 c PLY144 Polydactyly, Postaxial, Type A7 14
532 c PLY178 Polydactyly, Postaxial, Type A8 13
533 P PCH020 Pachyonychia Congenita, Autosomal Recessive 12
534 c PLY054 Polydactyly, Postaxial, Type A4 12
535 c PLY053 Polydactyly, Postaxial, Type A3 11
536 c PLY182 Polydactyly, Postaxial, Type A9 10
537 CHR679 Chromium Allergic Contact Dermatitis 9
538 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 9
539 TBR017 Tuberculin Skin Test Reactivity, Absence of 9
540 END012 Endometriosis in Scar of Skin 8
541 IRS001 Iris Spindle Cell Melanoma 7
542 DRM047 Dermatoglyphics--Arch on Any Digit 7
543 PTS020 Potassium Dichromate Allergic Contact Dermatitis 4
544 PSR001 Psoriatic Arthritis 68
545 P EXN002 Exanthem 62
546 FBR047 Fibromyalgia 62
547 KRT009 Keratosis 55
548 P NLD001 Nail Disease 54
549 MLL001 Molluscum Contagiosum 50
550 PST011 Pustulosis of Palm and Sole 50
551 CHC001 Chickenpox 50
552 DCB001 Decubitus Ulcer 47
553 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
554 TNF001 Tinea Favosa 41
555 SKN006 Skin Sarcoidosis 40
556 c CHL140 Chilblain Lupus 1 40
557 c ALB024 Albinism, Ocular, Type I 39
558 PTY002 Pityriasis Versicolor 38
559 GRN003 Granulomatous Dermatitis 37
560 PMP010 Pompholyx 35
561 MYX013 Myxofibrosarcoma 35
562 MLN002 Melanomatosis 34
563 SBC009 Sebaceous Adenoma 33
564 HDR001 Hidrocystoma 32
565 STR096 Striate Palmoplantar Keratoderma 32
566 KRT047 Keratosis Pilaris Atrophicans 32
567 LMY001 Leiomyoma Cutis 31
568 OVR104 Ovarian Melanoma 31
569 SPR020 Superficial Mycosis 30
570 MDD015 Mid-Dermal Elastolysis 30
571 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 30
572 CTN012 Cutaneous Leiomyosarcoma 29
573 YSY001 Yao Syndrome 29
574 CTN010 Cutaneous Ganglioneuroma 27
575 c JVN011 Juvenile Dermatitis Herpetiformis 26
576 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
577 SPN011 Spongiotic Dermatitis 23
578 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 23
579 P PNC113 Punctate Palmoplantar Keratoderma 23
580 P FML337 Familial Chilblain Lupus 21
581 SHH004 Shaheen Syndrome 21
582 BLL002 Balloon Cell Malignant Melanoma 21
583 AQG001 Aquagenic Pruritus 21
584 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 20
585 NTL003 Notalgia Paresthetica 20
586 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 20
587 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 19
588 c VRL008 Viral Exanthem 19
589 DRM046 Dermal Ridges-off-the-End 19
590 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 19
591 RSS027 Russell-Silver Syndrome, X-Linked 19
592 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 19
593 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 18
594 c CHL114 Chilblain Lupus 2 18
595 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 18
596 EPD052 Epidermolysis Bullosa Simplex Superficialis 17
597 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 16
598 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 16
599 KRT066 Keratosis, Focal Palmoplantar and Gingival 16
600 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 15
601 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 15
602 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
603 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 14
604 LNR017 Linear Focal Elastosis 14
605 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 13
606 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 13
607 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
608 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
609 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 11
610 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 11
611 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 11
612 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
613 PSD110 Pseudoatrophoderma Colli 11
614 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 11
615 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 11
616 ACR075 Acral Dystrophic Epidermolysis Bullosa 10
617 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
618 P CRV009 Cervix Melanoma 10
619 NNT046 Neonatal Dermatomyositis 9
620 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
621 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 9
622 NCR008 Necrotic Uveal Melanoma 9
623 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 9
624 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
625 CTN008 Cutaneous Liposarcoma 8
626 DRM045 Dermal Ridges, Patternless 8
627 DRM049 Dermatoglyphics--Fingerprint Pattern 7
628 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 7
629 DRM044 Dermal Ridges, Nelson Syndrome 7
630 MLN068 Melanoma, Malignant Familial Intraocular 7
631 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 7
632 HST020 Histiocytic Dermatoarthritis 6
633 DRM052 Dermatoglyphics--Hypothenar Radial Arch 6
634 NNT043 Neonatal Scleroderma 6
635 XRD002 Xeroderma of Eyelid 6
636 ECZ001 Eczematous Dermatitis of Eyelid 6
637 c BCT003 Bacterial Exanthem 6
638 PLN004 Plantar Verrucous Skin Carcinoma 6
639 CLR008 Ciliary Body Mixed Cell Melanoma 6
640 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
641 IRS002 Iris Mixed Cell Melanoma 6
642 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
643 NVD002 Nevada Syndrome 6
644 c LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 5
645 KRT076 Krt1-Related Diffuse Nonepidermolytic Keratoderma 5
646 MLG109 Malignant Melanoma of the Mucosa 4
647 PRT089 Partial Deep Dermal and Full Thickness Burns 3
648 DRM048 Dermatoglyphics--Finger Ridge Count 3
649 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 3
650 c SYS001 Systemic Lupus Erythematosus 88
651 P ATX030 Ataxia-Telangiectasia 83
652 P FNC027 Fanconi Anemia, Complementation Group a 81
653 P NNN008 Noonan Syndrome 1 79
654 P NRF023 Neurofibromatosis, Type Ii 76
655 BHC003 Behcet Syndrome 75
656 c HMC039 Hemochromatosis, Type 1 74
657 P FML011 Familial Adenomatous Polyposis 72
658 FBR012 Fabry Disease 72
659 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
660 GRN037 Granulomatosis with Polyangiitis 69
661 P LPS004 Lupus Erythematosus 69
662 c NRF024 Neurofibromatosis, Type I 69
663 P PSD087 Pseudoxanthoma Elasticum 68
664 CTN007 Cutaneous Leishmaniasis 68
665 P DYS007 Dyskeratosis Congenita 67
666 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
667 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
668 c FML346 Familial Adenomatous Polyposis 1 67
669 c MCP050 Mucopolysaccharidosis, Type Ii 67
670 INC021 Incontinentia Pigmenti 67
671 c LPM012 Lipomatosis, Multiple 66
672 c NNN010 Noonan Syndrome 3 66
673 MCC012 Mccune-Albright Syndrome 65
674 CST001 Costello Syndrome 65
675 CRB011 Cerebrotendinous Xanthomatosis 65
676 c CNG411 Congenital Disorder of Glycosylation, Type in 65
677 c MCP049 Mucopolysaccharidosis, Type Vii 65
678 P CRD224 Cardiofaciocutaneous Syndrome 1 65
679 c MCP001 Mucopolysaccharidosis Iii 63
680 P LPR021 Leprosy 3 63
681 c ADL017 Adult T-Cell Leukemia 63
682 RFS006 Refsum Disease, Classic 63
683 DRR014 Darier-White Disease 62
684 c MCP052 Mucopolysaccharidosis, Type Vi 62
685 P EHL001 Ehlers-Danlos Syndrome 62
686 P AXN002 Axenfeld-Rieger Syndrome 62
687 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
688 KLP010 Klippel-Trenaunay-Weber Syndrome 61
689 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 61
690 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 61
691 URT039 Urticaria 60
692 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
693 c MCP004 Mucopolysaccharidosis Iv 60
694 NTH001 Netherton Syndrome 60
695 P OCL013 Oculodentodigital Dysplasia 59
696 c PRT132 Protoporphyria, Erythropoietic, 1 59
697 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
698 STR039 Sturge-Weber Syndrome 58
699 P OCL002 Oculocutaneous Albinism 58
700 GRN051 Granulomatous Disease, Chronic, X-Linked 58
701 PRP082 Porphyria, Congenital Erythropoietic 58
702 P ANG015 Angioedema 58
703 P SYP003 Syphilis 58
704 c ACT020 Acute T Cell Leukemia 58
705 c HRD002 Hereditary Angioedema 57
706 P ICH004 Ichthyosis 57
707 LCR014 Lacrimoauriculodentodigital Syndrome 57
708 PRP032 Porphyria Variegata 57
709 c ANG068 Angioedema, Hereditary, Type I 57
710 ERD001 Erdheim-Chester Disease 57
711 CPR004 Coproporphyria, Hereditary 57
712 CHN055 Chanarin-Dorfman Syndrome 56
713 P HLL001 Hallermann-Streiff Syndrome 56
714 P CRN108 Cranioectodermal Dysplasia 1 56
715 HND002 Hand, Foot and Mouth Disease 56
716 P ACT008 Actinic Keratosis 55
717 c NNN012 Noonan Syndrome 5 55
718 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 55
719 RFL001 Reflex Sympathetic Dystrophy 55
720 P CTN003 Cutaneous Lupus Erythematosus 55
721 c PSR017 Psoriasis 2 54
722 MLT135 Multiple Sulfatase Deficiency 54
723 c HMN021 Human T-Cell Leukemia Virus Type 1 53
724 P TCL004 T-Cell Leukemia 53
725 P LPM005 Lipomatosis 53
726 c MCP043 Mucopolysaccharidosis, Type Iiia 53
727 c WRD033 Waardenburg Syndrome, Type 2e 53
728 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
729 VRL003 Variola Major 52
730 NNT012 Neonatal Jaundice 52
731 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
732 PNN001 Panniculitis 52
733 LNT004 Lentigines 52
734 ANH002 Anhidrosis 52
735 c NNN009 Noonan Syndrome 2 51
736 P APL006 Aplasia Cutis Congenita 51
737 HNN001 Hennekam Syndrome 51
738 PLY112 Polyarteritis Nodosa, Childhood-Onset 51
739 c CCK007 Cockayne Syndrome B 51
740 P WLL002 Weill-Marchesani Syndrome 50
741 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
742 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
743 DRG013 Drug-Induced Lupus Erythematosus 50
744 P INF049 Infantile Myofibromatosis 50
745 PRN014 Paronychia 50
746 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
747 P HRD018 Hair Disease 50
748 P NLX004 Neu-Laxova Syndrome 1 50
749 HYP077 Hypertrichosis 49
750 c GRS014 Griscelli Syndrome, Type 2 49
751 HDR003 Hidradenitis 49
752 RVS001 Revesz Syndrome 49
753 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 49
754 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
755 FRB001 Farber Lipogranulomatosis 49
756 FLL008 Folliculitis 48
757 JHN001 Johanson-Blizzard Syndrome 48
758 P KRN004 Kernicterus 48
759 ANL022 Anal Fistula 48
760 c HMC010 Hemochromatosis, Type 3 48
761 c JVN003 Juvenile Xanthogranuloma 48
762 HYP457 Hypertrophic Scars 48
763 P KRT005 Keratoacanthoma 48
764 CRB016 Carbuncle 48
765 c AXN009 Axenfeld-Rieger Syndrome, Type 1 48
766 c ALB019 Albinism, Oculocutaneous, Type Iv 47
767 CHL056 Cheilitis 47
768 HRT031 Hartnup Disorder 47
769 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
770 c WRD032 Waardenburg Syndrome, Type 2a 47
771 c AXN010 Axenfeld-Rieger Syndrome, Type 3 47
772 c WRD020 Waardenburg Syndrome, Type 4a 47
773 c HMC009 Hemochromatosis Type 2 46
774 c TRC092 Trichorhinophalangeal Syndrome, Type I 46
775 c HMC035 Hemochromatosis, Type 4 46
776 SND002 Sneddon Syndrome 46
777 c ALB015 Albinism, Oculocutaneous, Type V 46
778 RST011 Restrictive Dermopathy, Lethal 45
779 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 45
780 c SBC035 Subacute Cutaneous Lupus Erythematosus 45
781 c WRD019 Waardenburg Syndrome, Type 4b 45
782 c WRD031 Waardenburg Syndrome, Type 3 45
783 PTY001 Pityriasis Rosea 45
784 PSD016 Pseudosarcomatous Fibromatosis 45
785 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
786 PRN049 Paraneoplastic Pemphigus 45
787 c MCP047 Mucopolysaccharidosis, Type Iva 45
788 P WHT013 White Sponge Nevus 1 45
789 EMY001 Eumycotic Mycetoma 44
790 c MCP044 Mucopolysaccharidosis, Type Iiib 44
791 c ACQ012 Acquired Angioedema 44
792 c NNN013 Noonan Syndrome 6 44
793 PHH001 Phaeohyphomycosis 44
794 c PRM022 Primary Syphilis 44
795 ILC002 Ileocolitis 44
796 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44
797 DSC009 Discoid Lupus Erythematosus 44
798 P JVN024 Juvenile Hereditary Hemochromatosis 44
799 AND014 Androgenic Alopecia 44
800 c PSR028 Psoriasis 7 43
801 c PSR032 Psoriasis 11 43
802 c NNN011 Noonan Syndrome 4 43
803 c INT059 Internal Hemorrhoid 43
804 PKL001 Poikiloderma with Neutropenia 43
805 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
806 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
807 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
808 ATN014 Autoinflammation with Arthritis and Dyskeratosis 43
809 c HMN022 Human T-Cell Leukemia Virus Type 2 43
810 c FNC058 Fanconi Anemia, Complementation Group R 43
811 c PSR018 Psoriasis 13 42
812 ATR013 Atrichia with Papular Lesions 42
813 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
814 c FNC023 Fanconi Anemia, Complementation Group N 42
815 HYL004 Hyaline Fibromatosis Syndrome 42
816 c FNC057 Fanconi Anemia, Complementation Group U 42
817 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
818 c FNC056 Fanconi Anemia, Complementation Group V 41
819 CSL001 Causalgia 41
820 P FRN036 Frontonasal Dysplasia 1 41
821 P DYS023 Dyschromatosis Universalis Hereditaria 41
822 c ALB016 Albinism, Oculocutaneous, Type Vii 41
823 c FNC028 Fanconi Anemia, Complementation Group L 41
824 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
825 c HMC021 Hemochromatosis, Type 2a 41
826 c CNG033 Congenital Syphilis 41
827 c FNC029 Fanconi Anemia, Complementation Group I 41
828 FXD003 Fixed Drug Eruption 40
829 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
830 P CLR001 Clear Cell Acanthoma 40
831 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
832 BRB006 Barber-Say Syndrome 40
833 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
834 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
835 c NNN024 Noonan Syndrome 9 40
836 c NNN021 Noonan Syndrome 8 40
837 c CRN243 Carney Complex, Type 1 40
838 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
839 c FNC046 Fanconi Anemia, Complementation Group P 39
840 c SCN006 Secondary Syphilis 39
841 c FNC025 Fanconi Anemia, Complementation Group J 39
842 c MYF007 Myofibromatosis, Infantile, 1 39
843 LCH016 Lichen Sclerosus Et Atrophicus 39
844 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
845 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 39
846 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
847 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
848 P UVS001 Uv-Sensitive Syndrome 38
849 c SYS043 Systemic Lupus Erythematosus 1 38
850 c LKM004 Leukemia, B-Cell, Chronic 38
851 MLR009 Miliaria 38
852 FCL003 Facial Hemiatrophy 38
853 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
854 CNR001 Coenurosis 38
855 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
856 BLL012 Bullous Impetigo 37
857 c HMN027 Hemangioma, Capillary Infantile 37
858 EPC005 Epicanthus 37
859 LCH004 Lichen Disease 37
860 c WRD024 Waardenburg Syndrome, Type 4c 37
861 CTN011 Cutaneous Porphyria 37
862 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
863 SLT014 Salt and Pepper Developmental Regression Syndrome 36
864 MND025 Mandibulofacial Dysostosis with Alopecia 36
865 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
866 P GLP001 Geleophysic Dysplasia 36
867 KLD003 Keloid Formation 36
868 c NNN025 Noonan Syndrome 10 36
869 GPS001 Gapo Syndrome 36
870 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
871 c FNC048 Fanconi Anemia, Complementation Group O 36
872 c SYS061 Systemic Lupus Erythematosus 16 36
873 LCH003 Lichen Nitidus 36
874 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
875 APC003 Apocrine Adenoma 36
876 ECT004 Ecthyma 35
877 c FNC062 Fanconi Anemia, Complementation Group S 35
878 c MCP051 Mucopolysaccharidosis, Type Ix 35
879 P CLS054 Classic Ehlers-Danlos Syndrome 35
880 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
881 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
882 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
883 TRM011 Terminal Osseous Dysplasia 35
884 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
885 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
886 NVS007 Nevus of Ota 34
887 c NNN020 Noonan Syndrome 7 34
888 SCL002 Scleredema Adultorum 34
889 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
890 ANG007 Angiokeratoma Circumscriptum 34
891 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
892 FLL019 Follicular Mucinosis 34
893 KNC002 Knuckle Pads 34
894 P AST055 Asthma-Related Traits 1 34
895 MLR001 Miliaria Rubra 34
896 c MCP045 Mucopolysaccharidosis, Type Iiic 34
897 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
898 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
899 c MCP048 Mucopolysaccharidosis, Type Ivb 33
900 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
901 c FNC052 Fanconi Anemia, Complementation Group T 33
902 c GLP003 Geleophysic Dysplasia 1 33
903 c WRD010 Waardenburg Syndrome Type 4 33
904 c AXN012 Axenfeld-Rieger Syndrome, Type 2 33
905 c PRP091 Porphyria Cutanea Tarda, Type I 33
906 FLL042 Folliculotropic Mycosis Fungoides 33
907 ERY002 Erythema Infectiosum 33
908 c CNG379 Congenital Disorder of Glycosylation, Type It 33
909 OLV004 Oliver-Mcfarlane Syndrome 33
910 c FNC047 Fanconi Anemia, Complementation Group Q 33
911 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
912 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
913 PLN001 Plantar Wart 32
914 ANG062 Angioosteohypertrophic Syndrome 32
915 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
916 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
917 c GLP004 Geleophysic Dysplasia 2 32
918 c WLL036 Weill-Marchesani Syndrome 1 32
919 LCH014 Lichen Amyloidosis 32
920 c HMC034 Hemochromatosis, Type 5 32
921 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
922 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
923 c LKM005 Leukemia, T-Cell, Chronic 31
924 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 31
925 IMP001 Impetigo Herpetiformis 31
926 INV005 Inverted Follicular Keratosis 31
927 c MCP046 Mucopolysaccharidosis, Type Iiid 31
928 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
929 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
930 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
931 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
932 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
933 PMP009 Pemphigus Erythematosus 30
934 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
935 CTN033 Cutaneous Candidiasis 30
936 c CRN109 Cranioectodermal Dysplasia 2 30
937 c CNG188 Congenital Disorder of Glycosylation, Type if 30
938 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30
939 c WLL037 Weill-Marchesani Syndrome 2 30
940 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
941 PHY008 Physical Urticaria 30
942 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
943 TKN001 Takenouchi-Kosaki Syndrome 30
944 P PLT008 Pili Torti 30
945 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
946 PRP093 Pierpont Syndrome 30
947 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
948 c DYS139 Dyschromatosis Universalis Hereditaria 3 29
949 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
950 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
951 c APL023 Aplasia Cutis Congenita, Nonsyndromic 29
952 VRL002 Variola Minor 29
953 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
954 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
955 BNG069 Benign Cephalic Histiocytosis 29
956 CBB002 Cobb Syndrome 29
957 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
958 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
959 PMP008 Pemphigus Vegetans 29
960 NDL010 Nodular Hidradenoma 29
961 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
962 ACR004 Acrokeratosis Verruciformis 28
963 P PRD037 Periodontal Ehlers-Danlos Syndrome 28
964 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
965 MLN005 Melanoacanthoma 28
966 LRY022 Laryngoonychocutaneous Syndrome 28
967 CHL035 Cholinergic Urticaria 28
968 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 28
969 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
970 MLR023 Melorheostosis, Isolated 28
971 c LRG002 Large Cell Acanthoma 28
972 P TRC031 Trichorhinophalangeal Syndrome 28
973 c LPR022 Leprosy 2 27
974 SLF015 Self-Improving Collodion Baby 27
975 c FRN033 Frontonasal Dysplasia 2 27
976 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
977 P ADL037 Adult Xanthogranuloma 27
978 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
979 c FML299 Familial Adenomatous Polyposis 3 27
980 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
981 SLR005 Solar Urticaria 27
982 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
983 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
984 c ANG045 Angioedema, Hereditary, Type Iii 27
985 TNM001 Tinea Imbricata 26
986 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
987 CYT017 Cytophagic Histiocytic Panniculitis 26
988 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
989 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
990 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
991 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
992 DGT002 Digital Clubbing, Isolated Congenital 26
993 CRM002 Ceruminoma 26
994 c ALB017 Albinism, Oculocutaneous, Type Vi 26
995 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
996 ANG014 Angiokeratoma of Fordyce 26
997 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
998 TLG001 Telogen Effluvium 26
999 c CRN110 Cranioectodermal Dysplasia 3 26
1000 c LTC001 Late Congenital Syphilis 25
1001 CLC064 Calcifying Aponeurotic Fibroma 25
1002 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
1003 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
1004 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1005 SBC019 Subcutaneous Mycosis 25
1006 c AST034 Asthma-Related Traits 4 25
1007 PSD078 Pseudofolliculitis Barbae 25
1008 CLR013 Clear Cell Hidradenoma 25
1009 c FRN032 Frontonasal Dysplasia 3 25
1010 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 25
1011 ADS001 Adiaspiromycosis 25
1012 c FML339 Familial Adenomatous Polyposis 4 24
1013 c EHL065 Ehlers-Danlos Syndrome, Type V 24
1014 c FML324 Familial Porphyria Cutanea Tarda 24
1015 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
1016 PHK008 Phakomatosis Cesioflammea 24
1017 c FML347 Familial Adenomatous Polyposis 2 24
1018 c WLL040 Weill-Marchesani Syndrome 4 24
1019 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
1020 ZNC004 Zinc Deficiency, Transient Neonatal 24
1021 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
1022 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
1023 c CRN111 Cranioectodermal Dysplasia 4 24
1024 MCL047 Macular Amyloidosis 24
1025 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 24
1026 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1027 c WLL038 Weill-Marchesani Syndrome 3 24
1028 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1029 LDW001 Ludwig's Angina 24
1030 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
1031 GNR023 Generalized Eruptive Histiocytosis 24
1032 ULC005 Ulcer of Lower Limbs 24
1033 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
1034 c FML223 Familial Keratoacanthoma 23
1035 c WRD029 Waardenburg Syndrome, Type 2b 23
1036 P PPL026 Papular Mucinosis 23
1037 DRM043 Dermochondrocorneal Dystrophy 23
1038 c SYS038 Systemic Lupus Erythematosus 2 23
1039 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1040 HYP481 Hyperbiliverdinemia 23
1041 c PLT022 Pili Torti, Early-Onset 23
1042 c SYS069 Systemic Lupus Erythematosus 6 23
1043 c HMC019 Hemochromatosis, Type 2b 23
1044 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
1045 c WRD022 Waardenburg Syndrome, Type 2d 23
1046 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 23
1047 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
1048 DPT001 Dipetalonemiasis 22
1049 PRG077 Progressive Nodular Histiocytosis 22
1050 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 22
1051 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 22
1052 c FNC061 Fanconi Anemia, Complementation Group W 22
1053 P CTS012 Cutis Verticis Gyrata 22
1054 c NLX003 Neu-Laxova Syndrome 2 22
1055 PMP013 Pemphigus Gestationis 22
1056 FLY003 Flynn-Aird Syndrome 22
1057 EXF002 Exfoliative Ichthyosis 22
1058 VLV039 Vulvar Seborrheic Keratosis 22
1059 BSD001 Basidiobolomycosis 21
1060 HRP026 Herpetiform Pemphigus 21
1061 TLN007 Telangiectasia, Hereditary Benign 21
1062 CHN019 Chand Syndrome 21
1063 c CRD167 Cardiofaciocutaneous Syndrome 4 21
1064 c ERL002 Early Congenital Syphilis 21
1065 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1066 c CRD164 Cardiofaciocutaneous Syndrome 3 21
1067 MNG001 Mongolian Spot 21
1068 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
1069 INF022 Inflamed Seborrheic Keratosis 21
1070 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1071 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1072 BLL015 Bullous Lichen Planus 20
1073 c CRD163 Cardiofaciocutaneous Syndrome 2 20
1074 c EHL090 Ehlers-Danlos Syndrome Type 7b 20
1075 GRM003 German Syndrome 20
1076 VLV046 Vulvovaginal Gingival Syndrome 20
1077 ACK001 Ackerman Syndrome 20
1078 c LPR023 Leprosy 1 20
1079 GNR033 Generalized Eruptive Keratoacanthoma 20
1080 OCL057 Oculotrichodysplasia 20
1081 DFF009 Diffuse Lipomatosis 19
1082 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
1083 c GLP007 Geleophysic Dysplasia 3 19
1084 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
1085 c SYS040 Systemic Lupus Erythematosus 10 19
1086 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
1087 LPS018 Lupus Erythematosus Panniculitis 19
1088 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
1089 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
1090 ERY010 Erythrasma 19
1091 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19
1092 c LTY001 Late Yaws 19
1093 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
1094 PHK010 Phakomatosis Spilorosea 18
1095 CRN224 Craniofaciofrontodigital Syndrome 18
1096 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1097 HST018 Histiocytosis, Progressive Mucinous 18
1098 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
1099 c AST056 Asthma-Related Traits 2 18
1100 c UVS005 Uv-Sensitive Syndrome 1 18
1101 TRC114 Trichodental Dysplasia 18
1102 c WRD026 Waardenburg Syndrome, Type 2c 18
1103 CTN031 Cutaneous Pseudolymphoma 18
1104 c UVS003 Uv-Sensitive Syndrome 3 18
1105 ERY066 Erythema Multiforme Major 18
1106 PPL038 Papular Xanthoma 18
1107 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
1108 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
1109 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
1110 ELS004 Elastofibroma Dorsi 17
1111 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
1112 c SX2003 Six2-Related Frontonasal Dysplasia 17
1113 P NDL017 Nodular Cutaneous Amyloidosis 17
1114 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
1115 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
1116 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1117 c UVS004 Uv-Sensitive Syndrome 2 17
1118 CTN005 Cutaneous Diphtheria 17
1119 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
1120 CND001 Conidiobolomycosis 17
1121 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 17
1122 c MYF010 Myofibromatosis, Infantile, 2 17
1123 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
1124 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 16
1125 CNJ004 Conjunctival Pigmentation 16
1126 VRS002 Virus-Associated Trichodysplasia Spinulosa 16
1127 HYP641 Hypotrichosis Simplex of the Scalp 16
1128 c WHT015 White Sponge Nevus 2 16
1129 LNR012 Linear Verrucous Nevus Syndrome 16
1130 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 16
1131 c HRN019 Hair-an Syndrome 16
1132 DRM038 Dermotrichic Syndrome 16
1133 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1134 c DYS090 Dyschromatosis Universalis Hereditaria 1 16
1135 PHK006 Phakomatosis Pigmentokeratotica 16
1136 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 16
1137 c DWL004 Dowling-Degos Disease 4 15
1138 PPL044 Papular Elastorrhexis 15
1139 ANT063 Anti-P200 Pemphigoid 15
1140 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
1141 ERY050 Erythema Palmare Hereditarium 15
1142 c SYS041 Systemic Lupus Erythematosus 9 15
1143 c SYS046 Systemic Lupus Erythematosus 3 15
1144 WRT005 Warty Dyskeratoma 15
1145 c PRT135 Protoporphyria, Erythropoietic, 2 15
1146 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1147 c PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 15
1148 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
1149 ONY005 Onychomatricoma 15
1150 c TYP003 Type I Ehlers-Danlos Syndrome 15
1151 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
1152 c SYS065 Systemic Lupus Erythematosus 11 14
1153 MDS003 Mediastinal Lipomatosis 14
1154 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1155 c CRN298 Carney Complex, Type 2 14
1156 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1157 ACR078 Acral Self-Healing Collodion Baby 14
1158 c LPR017 Leprosy 5 14
1159 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1160 c SYS053 Systemic Lupus Erythematosus 5 14
1161 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
1162 HMN008 Hemangioma of Subcutaneous Tissue 14
1163 c SYS055 Systemic Lupus Erythematosus 12 13
1164 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
1165 ANN015 Anonychia with Flexural Pigmentation 13
1166 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 13
1167 c LPR016 Leprosy 4 13
1168 CNG248 Congenital Smooth Muscle Hamartoma 13
1169 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
1170 P PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 13
1171 c SYS047 Systemic Lupus Erythematosus 7 13
1172 c SYS051 Systemic Lupus Erythematosus 4 13
1173 c TFR001 Tfr2-Related Hereditary Hemochromatosis 13
1174 CNG238 Congenital Panfollicular Nevus 13
1175 c LPR020 Leprosy 6 13
1176 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1177 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1178 LCL017 Localized Pagetoid Reticulosis 13
1179 c AST057 Asthma-Related Traits 5 12
1180 c AST032 Asthma-Related Traits 7 12
1181 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
1182 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 12
1183 13Q001 13q12.3 Microdeletion Syndrome 12
1184 PLB003 Pili Bifurcati 12
1185 c ACQ036 Acquired Angioedema Type 2 12
1186 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
1187 ACR080 Acral Persistent Papular Mucinosis 11
1188 c SYS045 Systemic Lupus Erythematosus 14 11
1189 c SYS048 Systemic Lupus Erythematosus 8 11
1190 c SYS052 Systemic Lupus Erythematosus 13 11
1191 c SYS067 Systemic Lupus Erythematosus 15 11
1192 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 11
1193 c KRT070 Keratosis, Familial Actinic 11
1194 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
1195 c DYS091 Dyschromatosis Universalis Hereditaria 2 11
1196 PLG007 Pili Gemini 11
1197 c AST033 Asthma-Related Traits 3 11
1198 c AST035 Asthma-Related Traits 6 11
1199 c HLL012 Hallermann-Streiff-Like Syndrome 11
1200 PRM233 Primary Cutaneous Plasmacytosis 11
1201 CRC033 Circumscribed Palmoplantar Hypokeratosis 10
1202 c PPL045 Papular Mucinosis of Infancy 10
1203 ANG006 Angiokeratoma of Mibelli 10
1204 ATY027 Atypical Lichen Myxedematosus 10
1205 WHT012 White Fibrous Papulosis of the Neck 10
1206 9Q3002 9q33.3q34.11 Microdeletion Syndrome 10
1207 c HMN023 Human T-Cell Leukemia Virus Type 3 10
1208 SCR010 Scrotal Angioma 10
1209 SLF008 Self-Healing Papular Mucinosis 10
1210 c AST036 Asthma-Related Traits 8 9
1211 c PRM185 Primary Essential Cutis Verticis Gyrata 9
1212 VLV014 Vulva Fibroepithelial Polyp 9
1213 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1214 GRN047 Granulomatous Disease with Defect in Neutrophil Chemotaxis 9
1215 c KRN003 Kernicterus Due to Isoimmunization 9
1216 PRR034 Pruritus, Hereditary Localized 9
1217 c ACQ035 Acquired Angioedema Type 1 9
1218 DDY001 Didymosis Aplasticosebacea 8
1219 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1220 NDL018 Nodular Urticaria Pigmentosa 8
1221 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1222 P APL009 Aplasia Cutis Congenita of Limbs Recessive 8
1223 TLN001 Telangiectatic Glomangioma 8
1224 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 8
1225 DSC010 Discrete Papular Lichen Myxedematosus 8
1226 PHK009 Phakomatosis Cesiomarmorata 8
1227 MXL007 Maxillary Sinus Cholesteatoma 8
1228 CLC050 Calciphylaxis Cutis 8
1229 DCT001 Dioctophymiasis 7
1230 VLV007 Vulvar Inverted Follicular Keratosis 7
1231 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1232 ANG056 Angora Hair Nevus 7
1233 c AMY014 Amyloidosis Nodular Localized Cutaneous 7
1234 CHL020 Cholesteatoma of Attic 7
1235 VRR002 Verrucous Keratotic Hemangioma 6
1236 FRG002 Ferguson-Smith Tumor 6
1237 FBR006 Fibroepithelial Polyp of the Anus 6
1238 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 6
1239 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1240 NDL019 Nodular Lichen Myxedematosus 6
1241 FBR005 Fibroepithelial Polyp of Urethra 6
1242 HYP039 Hypodermyiasis 6
1243 PLQ001 Plaque-Form Urticaria Pigmentosa 6
1244 STR006 Stromal Corneal Pigmentation 6
1245 TYP022 Typical Urticaria Pigmentosa 6
1246 CHN007 Chondroid Syringoma of the Vulva 5
1247 c OCL037 Oculodentodigital Dysplasia Dominant 5
1248 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
1249 STR010 Steroid Lipomatosis 4
1250 ACQ032 Acquired Kinky Hair Syndrome 4
1251 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
1252 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
1253 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
1254 SCL040 Scleromyxedema Without Monoclonal Gammopathy 4
1255 CNF001 Confetti-Like Macular Atrophy 4
1256 KRT058 Keratoderma, Palmoplantar, with Deafness 27
1257 BSC001 Buschke-Ollendorff Syndrome 49
1258 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42
1259 NXS001 Naxos Disease 47
1260 GRD006 Geroderma Osteodysplastica 26
1261 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 52
1262 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
1263 ALL010 Allergic Contact Dermatitis 61
1264 CMB056 Combined Immunodeficiency with Skin Granulomas 10
1265 SQM006 Squamous Cell Carcinoma 59
1266 BZX001 Bazex Syndrome 45
1267 MJD001 Majeed Syndrome 34
1268 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 16
1269 MLN047 Melanoma-Pancreatic Cancer Syndrome 25
1270 KRT013 Keratolytic Winter Erythema 37
1271 BRK001 Brooke-Spiegler Syndrome 45
1272 GMZ002 Gomez-Lopez-Hernandez Syndrome 30
1273 EPD081 Epidermoid Brain Cyst 13
1274 MLD006 Mal De Meleda 39
1275 BCK005 Becker Nevus Syndrome 37
1276 DRM050 Dermographism, Familial 28
1277 AQG003 Aquagenic Syringeal Acrokeratoderm 15
1278 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 39
1279 NDL009 Nodular Basal Cell Carcinoma 36
1280 GNT018 Gianotti Crosti Syndrome 26
1281 DFF035 Diffuse Cutaneous Systemic Sclerosis 54
1282 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 52
1283 LNR006 Linear Iga Disease 46
1284 PPL049 Papillon-Lefevre Syndrome 55
1285 ICH002 Ichthyosis Bullosa of Siemens 47
1286 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 39
1287 c CLR017 Clear Cell Sarcoma 50
1288 P SML002 Small Cell Sarcoma 33
1289 GRD005 Geroderma Osteodysplasticum 31
1290 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 30
1291 MTT001 Metatypical Basal Cell Carcinoma 21
1292 JNS005 Jones Hersh Yusk Syndrome 9
1293 BLM001 Bloom Syndrome 63
1294 c PCH015 Pachyonychia Congenita 1 60
1295 CTN013 Cutaneous Anthrax 36
1296 GRV012 Grover's Disease 34
1297 BLL006 Bullous Pemphigoid 65
1298 ERY003 Erythema Multiforme 63
1299 P CRN038 Carney Complex Variant 62
1300 ICH001 Ichthyosis Vulgaris 50
1301 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 44
1302 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 39
1303 c SKN012 Skin Carcinoma in Situ 33
1304 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 30
1305 ECT073 Ectodermal Dysplasia/short Stature Syndrome 21
1306 ABS001 Absence of Fingerprints Congenital Milia 17
1307 P BRT029 Brittle Cornea Syndrome 2 54
1308 BRT002 Birt-Hogg-Dube Syndrome 54
1309 c FNC042 Fanconi Anemia, Complementation Group D2 54
1310 P FNC043 Fanconi Anemia, Complementation Group E 54
1311 HYP691 Hypomelanosis of Ito 54
1312 PGT003 Paget Disease, Extramammary 47
1313 c FNC024 Fanconi Anemia, Complementation Group D1 45
1314 c FNC045 Fanconi Anemia, Complementation Group F 44
1315 GNT020 Giant Congenital Nevus 39
1316 SCH038 Schopf-Schulz-Passarge Syndrome 35
1317 CTN009 Cutaneous Adenocystic Carcinoma 33
1318 SKN011 Skin Pilomatrix Carcinoma 27
1319 TCH005 Tièche-Jadassohn Nevus 25
1320 BLL009 Bullous Dystrophy Hereditary Macular Type 22
1321 CTN002 Cutaneous Mucoepidermoid Carcinoma 19
1322 BRS103 Bier Spots 14
1323 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
1324 JDG001 Judge Misch Wright Syndrome 7
1325 GRR001 Garret Tripp Syndrome 5
1326 LPD016 Lipoid Proteinosis of Urbach and Wiethe 67
1327 c BSL007 Basal Cell Carcinoma 65
1328 P SML001 Small Cell Carcinoma 61
1329 ART001 Arterial Tortuosity Syndrome 59
1330 c WRD030 Waardenburg Syndrome, Type 1 59
1331 ICH054 Ichthyosis, X-Linked 58
1332 PLM026 Pilomatrixoma 54
1333 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
1334 c LRG001 Large Cell Carcinoma 48
1335 HMF008 Hemifacial Atrophy, Progressive 47
1336 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
1337 CRS005 Crest Syndrome 44
1338 MLT152 Multiple Self-Healing Squamous Epithelioma 43
1339 SPT007 Spitz Nevus 38
1340 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 38
1341 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 36
1342 VBR001 Vibratory Urticaria 35
1343 PRP005 Parapsoriasis 35
1344 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 33
1345 c BSL011 Basal Cell Carcinoma, Multiple 33
1346 OCL034 Oculocerebrocutaneous Syndrome 32
1347 HMM002 Haim-Munk Syndrome 32
1348 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 31
1349 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
1350 BDN002 Bednar Tumor 27
1351 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 26
1352 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 22
1353 LNR001 Leiner Disease 18
1354 c BSL028 Basal Cell Carcinoma 5 16
1355 c BSL025 Basal Cell Carcinoma 2 14
1356 c BSL034 Basal Cell Carcinoma 7 14
1357 c BSL026 Basal Cell Carcinoma 3 11
1358 c BSL029 Basal Cell Carcinoma 6 11
1359 c BSL027 Basal Cell Carcinoma 4 11
1360 YSH001 Yusho Disease 11
1361 CMP010 Complex Regional Pain Syndrome 64
1362 MXD005 Mixed Connective Tissue Disease 61
1363 PPL025 Popliteal Pterygium Syndrome 59
1364 HDR002 Hidradenitis Suppurativa 57
1365 PBL005 Piebald Trait 56
1366 CLS005 Clouston Syndrome 55
1367 ONC002 Onchocerciasis 54
1368 KRT071 Keratosis, Seborrheic 50
1369 ACT164 Actinic Prurigo 49
1370 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1371 NLS001 Nelson Syndrome 48
1372 CHR031 Chromoblastomycosis 46
1373 ICH020 Ichthyosis Prematurity Syndrome 45
1374 PRL019 Prolidase Deficiency 44
1375 HDR004 Hidradenoma 43
1376 PMP002 Pemphigoid Gestationis 43
1377 VLV034 Vulva Squamous Cell Carcinoma 41
1378 PRR013 Prurigo Nodularis 40
1379 c MLG049 Malignant Syringoma 36
1380 CNJ018 Conjunctival Squamous Cell Carcinoma 36
1381 SKN021 Skin Sarcoma 35
1382 c MLG036 Malignant Spiradenoma 34
1383 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 33
1384 P SPR013 Spiradenoma 33
1385 HLN001 Halo Nevi 32
1386 PHC006 Phacomatosis Pigmentovascularis 32
1387 CTN027 Cutaneous Mastocytoma 28
1388 PNC060 Punctate Porokeratosis 27
1389 c TRC095 Trichoepithelioma, Multiple Familial, 1 25
1390 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 23
1391 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
1392 ANL016 Anal Margin Carcinoma 20
1393 ACT160 Actinic Lichen Planus 19
1394 IMM193 Immunodeficiency 58 18
1395 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
1396 c SYR009 Syringomas, Multiple 13
1397 ALG003 Al Gazali Aziz Salem Syndrome 11
1398 GRB001 Grubben De Cock Borghgraef Syndrome 8
1399 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1400 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 6
1401 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 6
1402 c HRD010 Hereditary Spastic Paraplegia 69
1403 CHR063 Chronic Mucocutaneous Candidiasis 66
1404 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1405 P PRT008 Proteus Syndrome 65
1406 P PNL012 Penile Cancer 59
1407 P PMP001 Pemphigus 56
1408 P CPL006 Capillary Hemangioma 55
1409 MLT163 Multiple Pterygium Syndrome, Escobar Variant 55
1410 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
1411 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
1412 P ADM011 Adams-Oliver Syndrome 53
1413 c ALB020 Albinism, Oculocutaneous, Type Iii 50
1414 DYS022 Dyschromatosis Symmetrica Hereditaria 50
1415 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1416 RPP001 Rapp-Hodgkin Syndrome 49
1417 ANL017 Anal Squamous Cell Carcinoma 49
1418 HYP781 Hypoascorbemia 49
1419 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
1420 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
1421 CMP007 Complement Component 5 Deficiency 46
1422 STT007 Steatocystoma Multiplex 45
1423 P DWL001 Dowling-Degos Disease 45
1424 PRS063 Paresthesia 45
1425 P PRN020 Paranasal Sinus Cancer 42
1426 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
1427 c BSL024 Basal Cell Carcinoma 1 41
1428 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
1429 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1430 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 40
1431 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
1432 MSS002 Mass Syndrome 39
1433 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
1434 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
1435 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
1436 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
1437 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
1438 ANG065 Angioma, Tufted 38
1439 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
1440 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
1441 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
1442 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
1443 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1444 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
1445 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
1446 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
1447 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
1448 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
1449 KRT003 Keratinizing Squamous Cell Carcinoma 36
1450 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1451 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
1452 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
1453 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
1454 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
1455 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1456 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
1457 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1458 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
1459 PGM002 Pigmented Basal Cell Carcinoma 34
1460 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
1461 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 33
1462 c ADM005 Adams-Oliver Syndrome 1 33
1463 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
1464 GLL015 Gallbladder Squamous Cell Carcinoma 33
1465 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
1466 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
1467 c SPS031 Spastic Paraplegia 23 31
1468 P SPS012 Spastic Paraplegia 3a 31
1469 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
1470 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1471 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
1472 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
1473 RTC001 Reticulohistiocytic Granuloma 30
1474 MCP039 Mucoepithelial Dysplasia, Hereditary 30
1475 ADN015 Adenoid Basal Cell Carcinoma 30
1476 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
1477 MXL004 Maxillary Sinus Squamous Cell Carcinoma 30
1478 PNS010 Penis Squamous Cell Carcinoma 29
1479 INF027 Infiltrative Basal Cell Carcinoma 29
1480 c SPS039 Spastic Paraplegia 5a 29
1481 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
1482 c PNL017 Penile Cancer, Adult 29
1483 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
1484 c SPS092 Spastic Paraplegia 11 28
1485 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
1486 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
1487 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1488 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
1489 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1490 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
1491 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1492 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
1493 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
1494 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
1495 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
1496 c ADM007 Adams-Oliver Syndrome 2 27
1497 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
1498 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
1499 c ADM010 Adams-Oliver Syndrome 5 26
1500 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
1501 c SPS036 Spastic Paraplegia 3 26
1502 c SPS091 Spastic Paraplegia 4 26
1503 c SPS021 Spastic Paraplegia 10 26
1504 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
1505 c HRD186 Hereditary Spastic Paraplegia 51 26
1506 ECC008 Eccrine Sweat Gland Neoplasm 25
1507 c PRT063 Proteus-Like Syndrome 25
1508 c MLG048 Malignant Acrospiroma 25
1509 CPL002 Capillary Lymphangioma 25
1510 c SPS025 Spastic Paraplegia 15 25
1511 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
1512 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
1513 PLM177 Pilomatrix Carcinoma 24
1514 NVD003 Nevoid Hypermelanosis, Linear and Whorled 24
1515 c SPS027 Spastic Paraplegia 17 24
1516 ECC001 Eccrine Papillary Adenocarcinoma 24
1517 ECC007 Eccrine Sweat Gland Cancer 23
1518 c SPS013 Spastic Paraplegia 8 23
1519 c SPS020 Spastic Paraplegia 1 22
1520 c ADM009 Adams-Oliver Syndrome 4 22
1521 CYS004 Cystic Basal Cell Carcinoma 22
1522 MLN064 Melanoma of Soft Tissue 22
1523 c ADM012 Adams-Oliver Syndrome 6 22
1524 c ADM008 Adams-Oliver Syndrome 3 21
1525 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
1526 P ACR049 Acrospiroma 21
1527 CLR015 Clear Cell Basal Cell Carcinoma 21
1528 c SPS037 Spastic Paraplegia 31 21
1529 c SPS041 Spastic Paraplegia 6 20
1530 SPR023 Supraglottis Squamous Cell Carcinoma 20
1531 c SPS023 Spastic Paraplegia 13 19
1532 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
1533 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
1534 c SPS028 Spastic Paraplegia 18 19
1535 c SPS042 Spastic Paraplegia 9 18
1536 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
1537 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
1538 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
1539 c SPS034 Spastic Paraplegia 26 18
1540 c SPS032 Spastic Paraplegia 24 18
1541 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
1542 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
1543 c SPS029 Spastic Paraplegia 19 17
1544 c SPS033 Spastic Paraplegia 25 17
1545 c SPS035 Spastic Paraplegia 29 17
1546 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
1547 THY027 Thymus Squamous Cell Carcinoma 17
1548 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 16
1549 c SPS161 Spastic Paraplegia 32 16
1550 c SPS026 Spastic Paraplegia 16 16
1551 c SPS080 Spastic Paraplegia 51 16
1552 HLL006 Halal Setton Wang Syndrome 16
1553 c HRD188 Hereditary Spastic Paraplegia 72 16
1554 PPL004 Papillary Squamous Carcinoma 16
1555 c SPS022 Spastic Paraplegia 12 16
1556 c ANG028 Angioma Serpiginosum, Autosomal Dominant 16
1557 c SPS024 Spastic Paraplegia 14 15
1558 c SPS038 Spastic Paraplegia 39 15
1559 TRC017 Trachea Squamous Cell Carcinoma 14
1560 FRN005 Frontal Sinus Squamous Cell Carcinoma 14
1561 URT034 Urethra Squamous Cell Carcinoma 14
1562 c SPS040 Spastic Paraplegia 5b 12
1563 MCR016 Micronodular Basal Cell Carcinoma 12
1564 c SPS230 Spastic Paraplegia Type 49 12
1565 SRC003 Sarcomatoid Basal Cell Carcinoma 12
1566 GLT004 Glottis Squamous Cell Carcinoma 12
1567 ANL007 Anal Margin Squamous Cell Carcinoma 12
1568 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 11
1569 c SPS165 Spastic Paraplegia 47 11
1570 HRY007 Hairy Palms and Soles 11
1571 URT021 Ureter Squamous Cell Carcinoma 11
1572 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 11
1573 CRN001 Cornea Squamous Cell Carcinoma 11
1574 ANL013 Anal Margin Basal Cell Carcinoma 9
1575 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
1576 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8
1577 SBG004 Subglottis Squamous Cell Carcinoma 8
1578 SQR001 Sequeiros Sack Syndrome 7
1579 BSR001 Basaran Yilmaz Syndrome 7
1580 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7
1581 SGN001 Signet Ring Basal Cell Carcinoma 6
1582 RYM001 Roy Maroteaux Kremp Syndrome 6
1583 BDH001 Boudhina Yedes Khiari Syndrome 6
1584 BRR007 Borrone Di Rocco Crovato Syndrome 6
1585 MLN017 Milner Khallouf Gibson Syndrome 5
1586 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1587 SBC013 Sebaceous Basal Cell Carcinoma 5
1588 ELL003 Elliott Ludman Teebi Syndrome 5
1589 c PRN030 Paranasal Sinus Cancer, Adult 4
1590 P ART022 Arthritis 78
1591 P HRT032 Heart Disease 76
1592 P HPT021 Hepatitis 74
1593 c HPT073 Hepatitis C Virus 73
1594 c HPT016 Hepatitis B 70
1595 c HPT001 Hepatitis C 69
1596 c HPT003 Hepatitis a 66
1597 c ATM011 Autoimmune Hepatitis 66
1598 ACN002 Acanthosis Nigricans 65
1599 YLL002 Yellow Fever 65
1600 PRP083 Porphyria, Acute Intermittent 63
1601 RHM001 Rheumatic Fever 63
1602 P CND004 Candidiasis 63
1603 LYM021 Lymphadenitis 63
1604 P MYS005 Myositis 62
1605 BRN002 Bronchiolitis 62
1606 DNH001 Donohue Syndrome 60
1607 OCL020 Ocular Cicatricial Pemphigoid 60
1608 c VRL010 Viral Hepatitis 60
1609 SML019 Smallpox 59
1610 P LCH002 Lichen Planus 59
1611 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
1612 DSS009 Disseminated Intravascular Coagulation 58
1613 P PMP005 Pemphigus Vulgaris 58
1614 WLL006 Wells Syndrome 56
1615 P CTN015 Cutaneous T Cell Lymphoma 56
1616 GRG001 Greig Cephalopolysyndactyly Syndrome 56
1617 c HPT007 Hepatitis E 56
1618 P HMR005 Hemorrhoid 54
1619 BRL010 Buruli Ulcer 54
1620 P ACQ022 Acquired Generalized Lipodystrophy 54
1621 CCT002 Cicatricial Pemphigoid 54
1622 P DPY001 Dupuytren Contracture 53
1623 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
1624 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 53
1625 P MRC003 Mercury Poisoning 53
1626 ESN015 Eosinophilic Fasciitis 53
1627 ALP097 Alopecia Universalis Congenita 53
1628 SPT005 Spotted Fever 53
1629 c LSS005 Lissencephaly 1 52
1630 c CNG012 Congenital Generalized Lipodystrophy 52
1631 c HPT015 Hepatitis D 52
1632 P FML012 Familial Partial Lipodystrophy 52
1633 PST062 Pustulosis Palmaris Et Plantaris 52
1634 HYP458 Hyper Ige Syndrome 52
1635 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 52
1636 c HRM005 Hermansky-Pudlak Syndrome 1 51
1637 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
1638 c HRM008 Hermansky-Pudlak Syndrome 5 51
1639 NCR007 Necrotizing Fasciitis 51
1640 TMR010 Tumor Predisposition Syndrome 51
1641 c HRM006 Hermansky-Pudlak Syndrome 3 50
1642 LCH011 Lichen Planopilaris 50
1643 NDL003 Nodular Nonsuppurative Panniculitis 50
1644 CTS011 Cutis Marmorata Telangiectatica Congenita 50
1645 HYP088 Hyper-Igd Syndrome 49
1646 P LSS002 Lissencephaly 49
1647 P OCL001 Ocular Albinism 48
1648 P PRK001 Porokeratosis 48
1649 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 48
1650 TLR001 Tularemia 48
1651 PMP004 Pemphigus Foliaceus 47
1652 PRP056 Porphyria, Acute Hepatic 47
1653 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 47
1654 ERY004 Erysipelas 46
1655 PYG006 Pyogenic Granuloma 46
1656 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 46
1657 LCH009 Lichen Sclerosus 46
1658 P PLL002 Pellagra 46
1659 OCL033 Oculocerebral Syndrome with Hypopigmentation 46
1660 P PRP034 Purpura Fulminans 46
1661 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 45
1662 MNL001 Monilethrix 45
1663 SBC017 Sebaceous Gland Disease 45
1664 c LPD019 Lipodystrophy, Partial, Acquired 45
1665 GRN007 Granuloma Annulare 45
1666 WDM005 Wiedemann-Rautenstrauch Syndrome 44
1667 NRW001 Norwegian Scabies 44
1668 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 44
1669 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 43
1670 SYR002 Syringocystadenoma Papilliferum 43
1671 c PRK082 Porokeratosis 1, Multiple Types 43
1672 c SCN005 Secondary Hypertrophic Osteoarthropathy 43
1673 c HRM009 Hermansky-Pudlak Syndrome 6 43
1674 CCN007 Cocoon Syndrome 43
1675 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 42
1676 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 42
1677 BLR027 Blue Rubber Bleb Nevus 42
1678 P YWS001 Yaws 42
1679 P PST059 Pustular Psoriasis 41
1680 c PMP006 Pemphigus Vulgaris, Familial 41
1681 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 41
1682 P SYR003 Syringoma 41
1683 HYP236 Hyperbilirubinemia, Rotor Type 41
1684 CLD011 Cold Urticaria 41
1685 MCP033 Mucopolysaccharidoses 40
1686 TNG001 Tungiasis 40
1687 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 40
1688 SWT003 Sweat Gland Disease 39
1689 NCR002 Necrobiosis Lipoidica 39
1690 c HRM011 Hermansky-Pudlak Syndrome 8 39
1691 MYP001 Myoepithelioma 39
1692 MNS001 Mansonelliasis 39
1693 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38
1694 FNT005 Fontaine Progeroid Syndrome 38
1695 NVS015 Nevus Comedonicus 38
1696 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 38
1697 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
1698 MLG141 Malignant Atrophic Papulosis 37
1699 SPR005 Superficial Basal Cell Carcinoma 37
1700 HYP137 Hypotrichosis Simplex 37
1701 c HRM012 Hermansky-Pudlak Syndrome 9 37
1702 LMB008 Limb-Mammary Syndrome 37
1703 c LSS006 Lissencephaly 2 37
1704 XNT009 Xanthoma Disseminatum 37
1705 PRL042 Proliferating Trichilemmal Cyst 37
1706 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1707 LCL022 Localized Lipodystrophy 36
1708 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1709 LCH013 Lichen Planus Pemphigoides 36
1710 c HRM007 Hermansky-Pudlak Syndrome 4 36
1711 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1712 HNS001 Hansen's Disease 36
1713 AGG003 Aggressive Digital Papillary Adenocarcinoma 36
1714 LSS001 Loiasis 35
1715 SCL025 Scleromyxedema 35
1716 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 35
1717 INF046 Infantile Digital Fibromatosis 35
1718 c FML117 Familial Cold Autoinflammatory Syndrome 2 35
1719 PPL017 Papillary Hidradenoma 34
1720 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
1721 ANH001 Ainhum 34
1722 ELS002 Elastosis Perforans Serpiginosa 34
1723 c HRM010 Hermansky-Pudlak Syndrome 7 34
1724 P UNC017 Uncombable Hair Syndrome 1 33
1725 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 33
1726 OCL039 Oculoectodermal Syndrome 33
1727 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
1728 PRG023 Progeroid Short Stature with Pigmented Nevi 32
1729 c TRN014 Transient Arthritis 32
1730 ORL022 Oral Erosive Lichen 32
1731 ALP048 Alopecia Totalis 32
1732 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
1733 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
1734 FRN020 Frontal Fibrosing Alopecia 32
1735 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 32
1736 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
1737 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 31
1738 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
1739 SCL022 Scleredema 31
1740 DRF001 Dirofilariasis 31
1741 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 31
1742 MLG032 Malignant Granular Cell Myoblastoma 31
1743 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1744 RNG003 Ring Dermoid of Cornea 31
1745 VLV002 Vulva Basal Cell Carcinoma 31
1746 LPD026 Lipedema 30
1747 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 30
1748 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
1749 QNQ001 Quinquaud's Decalvans Folliculitis 30
1750 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
1751 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
1752 CLR007 Colorado Tick Fever 30
1753 c LSS010 Lissencephaly 4 29
1754 HPR006 Heparin Cofactor Ii Deficiency 29
1755 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 29
1756 PNT003 Pinta Disease 29
1757 c HRM020 Hermansky-Pudlak Syndrome 10 29
1758 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 29
1759 NBL001 Nablus Mask-Like Facial Syndrome 29
1760 PRN035 Perniosis 29
1761 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1762 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 29
1763 PSD043 Pseudopelade of Brocq 29
1764 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1765 KPP002 Keppen-Lubinsky Syndrome 28
1766 BSS001 Basosquamous Carcinoma 28
1767 MRP002 Morpheaform Basal Cell Carcinoma 28
1768 P FML313 Familial Progressive Hyperpigmentation 28
1769 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 28
1770 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 28
1771 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 28
1772 LSN002 Loose Anagen Hair Syndrome 28
1773 MND023 Mend Syndrome 28
1774 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1775 CHR588 Chromosome 8q22.1 Duplication Syndrome 28
1776 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 28
1777 HRY005 Hairy Elbows 28
1778 ALL007 Allergic Urticaria 27
1779 HYP160 Hyperkeratosis Lenticularis Perstans 27
1780 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 27
1781 FBR015 Fibroepithelial Basal Cell Carcinoma 27
1782 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
1783 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
1784 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 26
1785 RNG030 Ringed Hair 26
1786 NCR009 Necrobiotic Xanthogranuloma 26
1787 BJL001 Bejel 26
1788 HYP180 Hypertrichosis Lanuginosa Congenita 26
1789 LDD006 Ledderhose Disease 26
1790 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 26
1791 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
1792 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1793 PLL005 Pallister-Killian Mosaic Syndrome 25
1794 c PHL010 Peho-Like Syndrome 25
1795 c CND036 Candidiasis, Familial, 4 25
1796 KRN007 Kerion Celsi 25
1797 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
1798 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1799 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 25
1800 P KRT014 Keratosis Follicularis Spinulosa Decalvans 25
1801 ECC005 Eccrine Adenocarcinoma 25
1802 HRL002 Harlequin Syndrome 24
1803 LLS001 Lelis Syndrome 24
1804 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1805 OCL030 Oculoauriculofrontonasal Syndrome 24
1806 c LSS025 Lissencephaly 5 24
1807 ELS005 Elastoma 24
1808 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24
1809 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24
1810 GRD004 Gardner-Diamond Syndrome 24
1811 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 24
1812 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
1813 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1814 P HYD015 Hydroa Vacciniforme 24
1815 HRF001 Hair Follicle Neoplasm 24
1816 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1817 c FML334 Familial Candidiasis 23
1818 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 23
1819 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
1820 TBS009 Teebi-Shaltout Syndrome 23
1821 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 23
1822 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
1823 c CNG520 Congenital Heart Defects, Multiple Types, 6 23
1824 URT052 Urticaria, Aquagenic 23
1825 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 23
1826 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 23
1827 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 23
1828 LPS019 Lupus Erythematosus Tumidus 22
1829 KYR001 Kyrle Disease 22
1830 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
1831 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
1832 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
1833 c LSS035 Lissencephaly 8 22
1834 c LSS009 Lissencephaly 3 22
1835 LCH008 Lichen Planus Pigmentosus 22
1836 P ACN018 Acne Inversa, Familial, 1 22
1837 P DRM012 Dermis Tumor 22
1838 HYP181 Hypertrichosis Lanuginosa, Acquired 22
1839 c CND025 Candidiasis, Familial, 8 22
1840 MRN005 Marie Unna Congenital Hypotrichosis 22
1841 c PRK080 Porokeratosis 3, Multiple Types 21
1842 c CND033 Candidiasis, Familial, 1 21
1843 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 21
1844 IND009 Indeterminate Cell Histiocytosis 21
1845 LNT008 Lentiginosis, Inherited Patterned 21
1846 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1847 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1848 PTY005 Pityriasis Lichenoides Chronica 21
1849 c CNG404 Congenital Heart Defects, Multiple Types, 4 21
1850 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
1851 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
1852 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 21
1853 c ERL004 Early Yaws 20
1854 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
1855 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 20
1856 c FML270 Familial Cold Autoinflammatory Syndrome 4 20
1857 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 20
1858 PTR029 Pterygium, Antecubital 20
1859 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 20
1860 EXG001 Exogenous Ochronosis 20
1861 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 20
1862 c ACN016 Acne Inversa, Familial, 3 20
1863 PLD002 Pilodental Dysplasia with Refractive Errors 20
1864 RDR002 Rodrigues Blindness 19
1865 ICH035 Ichthyosis, Hystrix-Like, with Deafness 19
1866 ACR039 Acromegaloid Hypertrichosis Syndrome 19
1867 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
1868 MTH082 Methemoglobinemia and Ambiguous Genitalia 19
1869 c CND031 Candidiasis, Familial, 9 19
1870 PNH003 Pinheiro Freire-Maia Miranda Syndrome 19
1871 c CNG511 Congenital Heart Defects, Multiple Types, 2 19
1872 OTN001 Otoonychoperoneal Syndrome 19
1873 c PLL014 Pellagra-Like Syndrome 19
1874 HYP489 Hypotrichosis-Deafness Syndrome 19
1875 SND006 Sonoda Syndrome 19
1876 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 19
1877 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1878 c CND037 Candidiasis, Familial, 6 19
1879 LNR010 Linear Lichen Planus 18
1880 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1881 QST001 Question Mark Ears, Isolated 18
1882 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
1883 PRN017 Perianal Hematoma 18
1884 SCL051 Scalp Defects and Postaxial Polydactyly 18
1885 c PRK084 Porokeratosis 6, Multiple Types 18
1886 c PRK075 Porokeratosis 7, Multiple Types 18
1887 c CNG521 Congenital Heart Defects, Multiple Types, 5 18
1888 FRN028 Furunculous Myiasis 18
1889 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 18
1890 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
1891 PBL004 Piebald Trait with Neurologic Defects 17
1892 TRG017 Trigeminal Trophic Syndrome 17
1893 ZNC006 Zinc, Elevated Plasma 17
1894 PTY007 Pityriasis Rotunda 17
1895 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
1896 BKS002 Book Syndrome 17
1897 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 17
1898 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 17
1899 P NNP004 Nonphotosensitive Trichothiodystrophy 17
1900 FLL020 Follicular Infundibulum Tumor 16
1901 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1902 c CND027 Candidiasis, Familial, 3 16
1903 TRC052 Trichofolliculoma 16
1904 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1905 ODN008 Odontomicronychial Dysplasia 16
1906 c UNC019 Uncombable Hair Syndrome 2 15
1907 c PRK074 Porokeratosis 9, Multiple Types 15
1908 AML012 Ameloonychohypohidrotic Syndrome 15
1909 SCR014 Scrotum Basal Cell Carcinoma 15
1910 ATR052 Atrophic Lichen Planus 15
1911 PLT010 Pili Torti Onychodysplasia 15
1912 PMP003 Pemphigus and Fogo Selvagem 15
1913 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
1914 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1915 HYP182 Hypertrichosis, Anterior Cervical 15
1916 ANN014 Annular Lichen Planus 15
1917 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1918 c UNC018 Uncombable Hair Syndrome 3 14
1919 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 14
1920 ICH012 Ichthyosis Hystrix Gravior 14
1921 PLT021 Pili Torti and Developmental Delay 14
1922 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1923 ORL024 Oral and Digital Anomalies with Ichthyosis 14
1924 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1925 ODN004 Odonto Onycho Dysplasia with Alopecia 13
1926 c FML348 Familial Pityriasis Rubra Pilaris 13
1927 c BCT018 Bacterial Myositis 13
1928 SCL044 Scalp Syndrome 13
1929 c VRL025 Viral Myositis 12
1930 ANN013 Annular Atrophic Lichen Planus 12
1931 HYP742 Hyperpigmentation of Eyelids 12
1932 c INF119 Infantile Mercury Poisoning 12
1933 CHL021 Cholesteatoma of External Ear 12
1934 ACR040 Acromelanosis 12
1935 LBM005 Labia Minora Cancer 12
1936 LBM004 Labium Majus Cancer 12
1937 ALP049 Alopecia Antibody Deficiency 12
1938 CHR175 Chromhidrosis 11
1939 c LCH017 Lichen Planus, Familial 11
1940 ONY004 Onychocytic Matricoma 11
1941 c MLG063 Malignant Dermis Tumor 11
1942 CRM013 Ceruminous Adenocarcinoma 11
1943 ONY006 Onychodystrophy-Anonychia 10
1944 c ACQ039 Acquired Purpura Fulminans 10
1945 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
1946 c HYD016 Hydroa Vacciniforme, Familial 10
1947 TRB003 Trueb Burg Bottani Syndrome 9
1948 GNN001 Genuine Diffuse Phlebectasia 9
1949 ACH007 Achenbach Syndrome 9
1950 RCH009 Roch-Leri Mesosomatous Lipomatosis 9
1951 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1952 HYP046 Hypopigmentation of Eyelid 9
1953 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 9
1954 PRP010 Prepuce Cancer 8
1955 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1956 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1957 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7
1958 FLL021 Follicular Basal Cell Carcinoma 6
1959 RTR017 Retrovirus-Associated Myelopathy 6
1960 c RRL001 Rare Lichen Planus 6
1961 VRR005 Verrucous Nevus Acanthokeratolytic 6
1962 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
1963 BLN022 Blue Nevi, Familial Multiple 5
1964 c FML226 Familial Dupuytren Contracture 3
1965 CYL004 Cylindromatosis, Familial 33
1966 BLS001 Blau Syndrome 61
1967 TYL002 Tylosis with Esophageal Cancer 30
1968 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 58
1969 BP1002 Bap1 Tumor Predisposition Syndrome 29
1970 CHL122 Cholesteatoma of Middle Ear 52
1971 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
1972 SZR001 Sezary's Disease 67
1973 c BNG091 Benign Chronic Pemphigus 54
1974 c GRS013 Griscelli Syndrome, Type 1 40
1975 MLN073 Melanosis, Neurocutaneous 40
1976 CRR017 Curry-Jones Syndrome 32
1977 MYC006 Mycosis Fungoides 74
1978 PRN038 Prune Belly Syndrome 54
1979 c ALB021 Albinism, Oculocutaneous, Type Ii 53
1980 ENC010 Encephalocraniocutaneous Lipomatosis 48
1981 DSC014 Discoid Fibromas, Familial Multiple 17
1982 TLF001 Telfer Sugar Jaeger Syndrome 9
1983 c TBR025 Tuberous Sclerosis 1 72
1984 P TBR001 Tuberous Sclerosis 69
1985 VRC005 Varicose Veins 67
1986 c TBR026 Tuberous Sclerosis 2 66
1987 P THN009 Thanatophoric Dysplasia, Type I 65
1988 LNG039 Lung Squamous Cell Carcinoma 62
1989 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
1990 P TRC102 Trichothiodystrophy 1, Photosensitive 59
1991 P GRS003 Griscelli Syndrome 57
1992 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
1993 BRN003 Branchiooculofacial Syndrome 56
1994 c ALB009 Albinism, Oculocutaneous, Type Ia 54
1995 LYM008 Lymphangiosarcoma 54
1996 c THN010 Thanatophoric Dysplasia, Type Ii 51
1997 c ALB010 Albinism, Oculocutaneous, Type Ib 45
1998 FRN039 Frank-Ter Haar Syndrome 38
1999 ECC004 Eccrine Porocarcinoma 36
2000 c CND034 Candidiasis, Familial, 2 30
2001 c TRC100 Trichothiodystrophy 3, Photosensitive 22
2002 c TRC099 Trichothiodystrophy 2, Photosensitive 17
2003 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 12
2004 DNT019 Daentl Towsend Siegel Syndrome 12
2005 CRH001 Crohn's Disease 79
2006 CNC002 Cinca Syndrome 65
2007 PRD013 Periodic Fever, Familial, Autosomal Dominant 64
2008 OCL009 Ocular Cancer 61
2009 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
2010 NPH018 Nephrogenic Systemic Fibrosis 56
2011 BTN003 Biotinidase Deficiency 55
2012 HLC001 Holocarboxylase Synthetase Deficiency 53
2013 FLR001 Filarial Elephantiasis 53
2014 LGS001 Legius Syndrome 51
2015 UND005 Undifferentiated Pleomorphic Sarcoma 51
2016 P PRM018 Primary Hypertrophic Osteoarthropathy 48
2017 LRY018 Laryngeal Squamous Cell Carcinoma 48
2018 PRX015 Paroxysmal Extreme Pain Disorder 46
2019 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
2020 TTZ003 Tietz Albinism-Deafness Syndrome 44
2021 P PRM001 Primary Cutaneous Amyloidosis 44
2022 OST014 Osteopoikilosis 40
2023 BLD047 Bladder Squamous Cell Carcinoma 39
2024 P MNT319 Mental Retardation, Autosomal Dominant 20 39
2025 c MNT143 Mental Retardation, Autosomal Dominant 13 38
2026 CPL013 Capillary Malformations, Congenital 37
2027 ACR025 Acrocephalopolydactylous Dysplasia 33
2028 BSL044 Basal Cell Carcinoma, Infundibulocystic 30
2029 CLN009 Colon Squamous Cell Carcinoma 29
2030 c MNT185 Mental Retardation, Autosomal Dominant 7 29
2031 c MNT246 Mental Retardation, Autosomal Dominant 38 27
2032 c MNT212 Mental Retardation, Autosomal Dominant 26 27
2033 c MNT241 Mental Retardation, Autosomal Dominant 32 26
2034 c MNT219 Mental Retardation, Autosomal Dominant 30 26
2035 c MNT210 Mental Retardation, Autosomal Recessive 42 26
2036 c MNT158 Mental Retardation, Autosomal Dominant 22 25
2037 c MNT145 Mental Retardation, Autosomal Recessive 5 25
2038 c MNT157 Mental Retardation, Autosomal Dominant 18 25
2039 c MNT270 Mental Retardation, Autosomal Recessive 53 25
2040 c MNT280 Mental Retardation, Autosomal Dominant 43 25
2041 c MNT322 Mental Retardation, Autosomal Dominant 27 25
2042 c MNT214 Mental Retardation, Autosomal Dominant 24 25
2043 c MNT166 Mental Retardation, Autosomal Recessive 39 25
2044 c MNT155 Mental Retardation, Autosomal Recessive 2 25
2045 c MNT287 Mental Retardation, Autosomal Recessive 57 25
2046 c MNT325 Mental Retardation, Autosomal Recessive 61 24
2047 c MNT213 Mental Retardation, Autosomal Recessive 40 24
2048 c MNT222 Mental Retardation, Autosomal Dominant 29 24
2049 c MNT183 Mental Retardation, Autosomal Recessive 36 24
2050 c MNT262 Mental Retardation, Autosomal Dominant 42 24
2051 c MNT328 Mental Retardation, Autosomal Dominant 52 24
2052 MDD007 Middle Ear Squamous Cell Carcinoma 24
2053 c MNT244 Mental Retardation, Autosomal Recessive 49 24
2054 c MNT150 Mental Retardation, Autosomal Recessive 15 23
2055 c MNT242 Mental Retardation, Autosomal Dominant 40 23
2056 c MNT239 Mental Retardation, Autosomal Dominant 35 23
2057 c MNT238 Mental Retardation, Autosomal Dominant 34 23
2058 c MNT216 Mental Retardation, Autosomal Recessive 41 23
2059 c MNT176 Mental Retardation, Autosomal Recessive 38 23
2060 c MNT226 Mental Retardation, Autosomal Dominant 31 23
2061 c MNT272 Mental Retardation, Autosomal Dominant 41 23
2062 c MNT273 Mental Retardation, Autosomal Dominant 44 23
2063