Skin Diseases Category (1988 diseases)


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

# Family MCID Name MIFTS
1 PLM102 Palmoplantar Keratoderma, Epidermolytic 47
2 CNG008 Congenital Ichthyosiform Erythroderma 60
3 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43
4 EPD002 Epidermolytic Hyperkeratosis 55
5 P SYS005 Systemic Scleroderma 66
6 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 51
7 SVR097 Severe Cutaneous Adverse Reaction 68
8 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 41
9 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46
10 P XRD010 Xeroderma Pigmentosum, Variant Type 68
11 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 27
12 SKN019 Skin Melanoma 69
13 PKL001 Poikiloderma with Neutropenia 43
14 P PLN008 Peeling Skin Syndrome 40
15 c PLN018 Peeling Skin Syndrome 2 36
16 DYS002 Dysplastic Nevus Syndrome 36
17 c XRD023 Xeroderma Pigmentosum, Complementation Group G 50
18 ADR038 Adermatoglyphia 40
19 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 28
20 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22
21 P MLN066 Melanoma, Cutaneous Malignant 1 59
22 P EPD009 Epidermolysis Bullosa Dystrophica 58
23 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 45
24 DRM014 Dermatofibrosarcoma Protuberans 64
25 P DRM010 Dermatomyositis 64
26 FCL009 Focal Dermal Hypoplasia 57
27 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 57
28 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 45
29 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 33
30 ACR014 Acral Lentiginous Melanoma 49
31 P JNC001 Junctional Epidermolysis Bullosa 47
32 NVS017 Nevus, Epidermal 66
33 KND001 Kindler Syndrome 50
34 P DRM053 Dermatitis, Atopic 67
35 c XRD031 Xeroderma Pigmentosum, Complementation Group F 52
36 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 52
37 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42
38 c PLN017 Peeling Skin Syndrome 1 35
39 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 46
40 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 25
41 INF057 Inflammatory Linear Verrucous Epidermal Nevus 25
42 P ICH004 Ichthyosis 54
43 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
44 P XRD029 Xeroderma Pigmentosum, Complementation Group a 49
45 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 45
46 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
47 c ATS013 Autosomal Recessive Congenital Ichthyosis 34
48 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
49 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 28
50 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
51 c ICH023 Ichthyosis, Acquired 27
52 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 24
53 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
54 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 23
55 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
56 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 20
57 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 18
58 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 16
59 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 16
60 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 69
61 c XRD030 Xeroderma Pigmentosum, Complementation Group C 53
62 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31
63 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 25
64 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 23
65 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 20
66 PLM135 Palmoplantar Keratoderma, Bothnian Type 28
67 KRT022 Keratoderma Palmoplantar Spastic Paralysis 14
68 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 51
69 DGS008 Digestive System Melanoma 12
70 ATR054 Atrophoderma Vermiculata 26
71 PGM028 Pigmented Purpuric Dermatosis 20
72 CHL028 Childhood Type Dermatomyositis 56
73 EPD029 Epidermolysis Bullosa Simplex, Generalized 44
74 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 39
75 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 14
76 PRM139 Primary Melanoma of the Central Nervous System 9
77 P XRD022 Xeroderma Pigmentosum, Complementation Group D 52
78 RST011 Restrictive Dermopathy, Lethal 44
79 P FCL023 Focal Facial Dermal Dysplasia 22
80 UNN001 Unna-Thost Palmoplantar Keratoderma 13
81 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 10
82 c LCL006 Localized Scleroderma 64
83 P DRM007 Dermatitis Herpetiformis 56
84 CTN004 Cutaneous Fibrous Histiocytoma 46
85 c XRD021 Xeroderma Pigmentosum, Complementation Group E 43
86 NTR042 Neutrophilic Dermatosis, Acute Febrile 31
87 c MLN043 Melanoma, Cutaneous Malignant 8 27
88 SKN016 Skin Disease 66
89 LPD014 Lipodermatosclerosis 42
90 c PLN021 Peeling Skin Syndrome 3 23
91 PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 19
92 ERY049 Erythroderma, Lethal Congenital 18
93 c EPD030 Epidermolysis Bullosa Simplex, Localized 43
94 c DRM054 Dermatitis, Atopic, 2 33
95 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 29
96 CRN070 Corneodermatoosseous Syndrome 22
97 PLM029 Palmoplantar Keratosis 47
98 P VHW001 Vohwinkel Syndrome 41
99 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 34
100 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 17
101 P KRT018 Keratosis Palmoplantaris Striata Iii 16
102 KRT023 Keratoderma Palmoplantaris Transgrediens 8
103 ERY019 Erythroderma Desquamativa of Leiner 6
104 CNT047 Contact Dermatitis 63
105 P RTH001 Rothmund-Thomson Syndrome 56
106 EPD025 Epidermolysis Bullosa with Pyloric Atresia 29
107 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 26
108 DRM042 Dermatoosteolysis, Kirghizian Type 19
109 P ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 14
110 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 8
111 EPD001 Epidermodysplasia Verruciformis 50
112 c XRD032 Xeroderma Pigmentosum, Complementation Group B 50
113 c SBR001 Seborrheic Infantile Dermatitis 39
114 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 29
115 LNR005 Linear Scleroderma 26
116 DGS002 Degos 'en Cocarde' Erythrokeratoderma 15
117 ATR020 Atrophoderma of Pierini and Pasini 8
118 P MLN069 Melanoma, Uveal 58
119 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
120 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 36
121 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 35
122 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 31
123 c KRT017 Keratosis Palmoplantaris Striata Ii 18
124 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 17
125 c XRD009 Xeroderma Pigmentosum, Type 9 7
126 MLN008 Melanoma 62
127 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 33
128 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 24
129 LMT001 Limited Scleroderma 49
130 ECZ002 Eczema Herpeticum 49
131 IRR003 Irritant Dermatitis 47
132 P INT080 Intraocular Melanoma 40
133 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26
134 MLN070 Melanoma-Astrocytoma Syndrome 25
135 c DRM055 Dermatitis, Atopic, 3 20
136 c MLN067 Melanoma, Cutaneous Malignant 2 20
137 c MLN075 Melanoma, Cutaneous Malignant 3 19
138 c MLN077 Melanoma, Cutaneous Malignant 9 18
139 c MLN076 Melanoma, Cutaneous Malignant 5 16
140 c MLN042 Melanoma, Cutaneous Malignant 6 15
141 P SKN013 Skin Benign Neoplasm 43
142 RTT001 Ritter's Disease 41
143 CLD014 Cole Disease 32
144 TRN029 Transient Bullous Dermolysis of the Newborn 28
145 PRN056 Parana Hard-Skin Syndrome 17
146 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
147 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 12
148 c PRM047 Primary Malignant Melanoma of the Cervix 10
149 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 10
150 STF002 Stiff Skin Syndrome 51
151 P EPD003 Epidermolysis Bullosa Simplex 51
152 SKN005 Skin Atrophy 41
153 AML001 Amelanotic Melanoma 41
154 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 36
155 MLG005 Malignant Spindle Cell Melanoma 34
156 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 32
157 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
158 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 19
159 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 14
160 GNR027 Generalized Peeling Skin Syndrome 11
161 DRM006 Dermatitis 66
162 P SBR004 Seborrheic Dermatitis 41
163 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 31
164 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 26
165 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 24
166 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 17
167 c DRM060 Dermatitis, Atopic, 8 13
168 c PST022 Posterior Uveal Melanoma 39
169 WRN004 Wrinkly Skin Syndrome 35
170 TXC003 Toxicodendron Dermatitis 29
171 DRM021 Dermatopathia Pigmentosa Reticularis 25
172 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 16
173 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
174 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 13
175 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 8
176 P CTS001 Cutis Laxa 62
177 ADL002 Adult Syndrome 49
178 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
179 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
180 CRC001 Cercarial Dermatitis 36
181 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
182 LNT002 Lentigo Maligna Melanoma 35
183 PLM137 Palmoplantar Keratoderma and Woolly Hair 35
184 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
185 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
186 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
187 c ACQ027 Acquired Cutis Laxa 29
188 GRN032 Granulomatous Slack Skin Disease 29
189 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
190 c VHW003 Vohwinkel Syndrome, Variant Form 28
191 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
192 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
193 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
194 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
195 SKN024 Skin Fragility-Woolly Hair Syndrome 23
196 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
197 c FCL046 Focal Facial Dermal Dysplasia 4 23
198 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
199 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 21
200 c ATP003 Atp6v0a2-Related Cutis Laxa 21
201 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
202 SPR033 Superficial Spreading Melanoma 20
203 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 20
204 c MLN074 Melanoma, Cutaneous Malignant 4 15
205 c EFM001 Efemp2-Related Cutis Laxa 14
206 c LTB003 Ltbp4-Related Cutis Laxa 14
207 c FBL003 Fbln5-Related Cutis Laxa 8
208 LSH001 Leishmaniasis 70
209 SKN022 Skin Squamous Cell Carcinoma 50
210 SKN027 Skin Conditions 48
211 RYN003 Reynolds Syndrome 47
212 EPD022 Epidermolysis Bullosa Pruriginosa 38
213 TNN002 Tinea Unguium 35
214 BRB006 Barber-Say Syndrome 35
215 XRD027 Xeroderma Pigmentosum Group E 33
216 ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 22
217 c DRM057 Dermatitis, Atopic, 5 13
218 c DRM058 Dermatitis, Atopic, 6 13
219 c DRM059 Dermatitis, Atopic, 7 13
220 c DRM061 Dermatitis, Atopic, 9 13
221 c DRM056 Dermatitis, Atopic, 4 13
222 PYD001 Pyoderma Gangrenosum 55
223 NDL001 Nodular Malignant Melanoma 42
224 SKN018 Skin Hemangioma 39
225 MLG142 Malignant Conjunctival Melanoma 39
226 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 38
227 ACR005 Acrodermatitis 34
228 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 34
229 DRM008 Dermatographia 33
230 NRT002 Neurotic Excoriation 32
231 EPD082 Epidermolytic Nevus 23
232 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 22
233 BSN001 Basan Syndrome 22
234 ATM026 Autoimmune Progesterone Dermatitis 19
235 EPD010 Epidermal Appendage Tumor 18
236 TRC111 Trichodysplasia-Xeroderma 17
237 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 17
238 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
239 FCL036 Focal Palmoplantar and Gingival Keratoderma 14
240 RDS002 Red Skin Pigment Anomaly of New Guinea 11
241 MLG052 Malignant Cornea Melanoma 8
242 SKN004 Skin Amelanotic Melanoma 7
243 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 6
244 BLS002 Blastomycosis 44
245 SKN023 Skin Tag 42
246 OCL022 Ocular Melanoma 41
247 PHT003 Phototoxic Dermatitis 40
248 TNC003 Tinea Corporis 39
249 PHT004 Photoallergic Dermatitis 33
250 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32
251 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
252 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
253 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
254 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
255 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 20
256 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 18
257 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 17
258 c MLN055 Melanoma, Cutaneous Malignant 10 16
259 c MLN040 Melanoma, Cutaneous Malignant 7 14
260 KRT062 Keratoderma with Woolly Hair 10
261 c SCL052 Scleroderma, Familial Progressive 64
262 EPD016 Epidermolysis Bullosa 56
263 DRM011 Dermatophytosis 47
264 BLL007 Bullous Skin Disease 42
265 DRM009 Dermatomycosis 37
266 ACR097 Acrodermatitis Chronica Atrophicans 29
267 HRZ001 Huriez Syndrome 23
268 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 22
269 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 19
270 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
271 SKN001 Skin Angiosarcoma 12
272 MLN065 Melanocytic Nevus Syndrome, Congenital 49
273 DFF003 Diffuse Scleroderma 44
274 c ADL027 Adult Dermatomyositis 40
275 OCC001 Occupational Dermatitis 36
276 SKN020 Skin Papilloma 33
277 TNC001 Tinea Cruris 33
278 MLG007 Malignant Skin Fibrous Histiocytoma 32
279 P PHT010 Photoparoxysmal Response 1 31
280 ODN009 Odontoonychodermal Dysplasia 28
281 MLG038 Malignant Anus Melanoma 25
282 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 24
283 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 21
284 LTN013 Late-Onset Focal Dermal Elastosis 20
285 MLG070 Malignant Iris Melanoma 19
286 PLM104 Palmoplantar Keratoderma, Nagashima Type 18
287 SCL001 Scalp Dermatosis 17
288 INF127 Infective Dermatitis Associated with Htlv-1 16
289 MNN010 Meningeal Melanoma 16
290 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
291 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 15
292 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 15
293 MLG062 Malignant Ciliary Body Melanoma 14
294 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 14
295 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 14
296 P SKN009 Skin Granular Cell Tumor 14
297 DYS044 Dysmorphism Cleft Palate Loose Skin 13
298 MLG061 Malignant Choroid Melanoma 13
299 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 12
300 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 12
301 ACQ008 Acquired Hyperkeratosis 12
302 c MLG050 Malignant Granular Cell Skin Tumor 11
303 SKN008 Skin Glomus Tumor 11
304 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
305 ESP016 Esophagus Melanoma 10
306 RTN010 Retinal Melanoma 9
307 BSL002 Basaloid Squamous Cell Skin Carcinoma 9
308 c PLN027 Peeling Skin Syndrome Type C 9
309 c PHT009 Photoparoxysmal Response 2 8
310 c PHT011 Photoparoxysmal Response 3 8
311 CHR448 Choroid Mixed Cell Melanoma 8
312 MXD040 Mixed Cell Uveal Melanoma 8
313 RCT003 Rectum Malignant Melanoma 7
314 BNG008 Benign Dermal Neurilemmoma 6
315 MLN071 Melanoma Tumor Antigen Gp90 6
316 MLG008 Malignant Breast Melanoma 6
317 PLM046 Palmoplantar Keratoderma of Sybert 5
318 KZN001 Kuzniecky Andermann Syndrome 5
319 SKN026 Skin Cancer, Non Melanoma, Childhood 3
320 EPD070 Epidermoid Cysts 47
321 TNP001 Tinea Pedis 42
322 TNC002 Tinea Capitis 40
323 CHR463 Chronic Actinic Dermatitis 33
324 MLN046 Melanoma-Associated Retinopathy 24
325 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
326 KSK002 Kosaki Overgrowth Syndrome 23
327 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21
328 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 20
329 RMB001 Rombo Syndrome 20
330 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
331 HRD113 Hereditary Acrokeratotic Poikiloderma, Weary Type 19
332 ELS003 Elastoderma 17
333 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 16
334 IMM145 Immunodeficiency 11b with Atopic Dermatitis 16
335 CNG265 Congenital Erosive and Vesicular Dermatosis 15
336 DFF018 Diffuse Dermal Angiomatosis 13
337 c DWL002 Dowling-Degos Disease 1 48
338 P DWL001 Dowling-Degos Disease 40
339 CHR100 Chronic Ulcer of Skin 38
340 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
341 HYP346 Hypotrichosis and Recurrent Skin Vesicles 18
342 c PLN025 Peeling Skin Syndrome 5 17
343 c DWL003 Dowling-Degos Disease 2 17
344 DPD001 Deep Dermatophytosis 16
345 c DWL004 Dowling-Degos Disease 4 15
346 c DWL005 Dowling-Degos Disease 3 13
347 CHR011 Choroid Spindle Cell Melanoma 8
348 CLR002 Ciliary Body Spindle Cell Melanoma 8
349 SBC012 Subcorneal Pustular Dermatosis 46
350 KWS001 Kwashiorkor 42
351 VSC012 Vesiculobullous Skin Disease 41
352 ACN003 Acneiform Dermatitis 41
353 ANG016 Angiokeratoma 40
354 MLN013 Melanoma Metastasis 38
355 MNN008 Meningeal Melanomatosis 38
356 VLV020 Vulvar Melanoma 37
357 c DRM040 Dermatitis Herpetiformis, Familial 36
358 CTN001 Cutaneous Solitary Mastocytoma 32
359 WND001 Wound Botulism 31
360 c PLN024 Peeling Skin Syndrome 4 30
361 EXF003 Exfoliative Dermatitis 29
362 TNM002 Tinea Manuum 25
363 ERS002 Erosive Pustular Dermatosis of the Scalp 24
364 SKN010 Skin Epithelioid Hemangioma 23
365 ORB015 Orbital Melanoma 23
366 SKN011 Skin Pilomatrix Carcinoma 22
367 JNC002 Junctional Epidermolysis Bullosa Inversa 22
368 GRW032 Growth Factors, Combined Defect of 21
369 EPT001 Epithelioid Cell Melanoma 21
370 TNB001 Tinea Barbae 21
371 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 21
372 FCL001 Facial Dermatosis 20
373 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
374 VSC009 Vascular Skin Disease 20
375 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 19
376 HND001 Hand Dermatosis 19
377 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
378 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
379 P PRM145 Primary Anetoderma 18
380 GLL012 Gallbladder Melanoma 17
381 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 17
382 PRC021 Parc Syndrome 16
383 DRM019 Dermatoleukodystrophy 16
384 TNP002 Tinea Profunda 15
385 SKN002 Skin Lipoma 15
386 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
387 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 15
388 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 15
389 c FML205 Familial Anetoderma 15
390 SPN025 Spinal Cord Melanoma 15
391 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 15
392 ERY005 Erythematosquamous Dermatosis 14
393 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 13
394 LGD001 Leg Dermatosis 13
395 JSS002 Jessner Lymphocytic Infiltration of the Skin 13
396 PKL003 Poikiloderma, Hereditary Sclerosing 13
397 ADM002 Adamantinoid Basal Cell Epithelioma 12
398 DFF028 Diffuse Leptomeningeal Melanocytosis 11
399 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
400 c MLN039 Melanoma, Uveal 1 11
401 CND003 Candidal Paronychia 11
402 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
403 c MLN041 Melanoma, Uveal 2 10
404 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 10
405 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 10
406 SKN017 Skin Glomangioma 10
407 CHR045 Choroid Necrotic Melanoma 9
408 MLG010 Malignant Eyelid Melanoma 9
409 ECC006 Eccrine Mixed Tumor of Skin 9
410 MGR041 Megarbane-Jalkh Syndrome 9
411 ALL005 Allergic Contact Dermatitis of Eyelid 8
412 ADL009 Adult Leptomeningeal Melanoma 7
413 PDT007 Pediatric Leptomeningeal Melanoma 7
414 ISL103 Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 7
415 NNN006 Noninfectious Dermatoses of Eyelid 7
416 PRN012 Perianal Skin Paget's Disease 7
417 CLR010 Clear Cell Squamous Cell Skin Carcinoma 6
418 ACN008 Acantholytic Squamous Cell Skin Carcinoma 6
419 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
420 DRM002 Dermoid Cyst of Skin 6
421 CHR014 Choroid Epithelioid Cell Melanoma 6
422 UVL002 Uveal Epithelioid Cell Melanoma 6
423 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 6
424 SKN007 Skin Meningioma 6
425 SQM001 Squamous Cell Papilloma of Skin 6
426 PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 6
427 SCR012 Scrotum Melanoma 5
428 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
429 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 4
430 c XRD005 Xeroderma Pigmentosum, Type 2 4
431 GNR044 Generalized Basal Epidermolysis Bullosa Simplex with Skin Atrophy, Scarring and Hair Loss 3
432 MSM009 Mesomelic Dysplasia Skin Dimples 3
433 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
434 DRM018 Dermatocardioskeletal Syndrome Boronne Type 2
435 PNC058 Punctate Acrokeratoderma Freckle Like Pigmentation 2
436 TRC043 Tricho Odonto Onycho Dermal Syndrome 2
437 XRD011 Xeroderma Talipes Enamel Defects 2
438 CDK001 Cdk4 Linked Melanoma 2
439 PRM048 Primary Malignant Melanoma of the Conjunctiva 2
440 MLG096 Malignant Melanoma, Childhood 2
441 PYD002 Pyoderma 51
442 P NLD001 Nail Disease 50
443 MCS004 Mucosal Melanoma 47
444 MLT016 Multicentric Reticulohistiocytosis 47
445 ACT167 Acute Generalized Exanthematous Pustulosis 42
446 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 40
447 CHN002 Chancroid 38
448 DRM003 Dermatosis Papulosa Nigra 38
449 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
450 CNT001 Contagious Pustular Dermatitis 34
451 CTN024 Cutaneous Mycosis 33
452 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
453 c BRT028 Brittle Cornea Syndrome 1 28
454 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 26
455 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 25
456 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
457 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23
458 VRR003 Verruciform Xanthoma of Skin 21
459 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
460 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17
461 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
462 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 16
463 SQM002 Squamous Cell Papilloma 40
464 P PLY147 Polydactyly, Postaxial, Type A1 39
465 INT283 Integumentary System Cancer 31
466 P ANG013 Angioma Serpiginosum 31
467 ATM016 Autoimmune Disease of Skin and Connective Tissue 24
468 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 24
469 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22
470 EPD004 Epidermolytic Acanthoma 22
471 CMP060 Complement Component 9 Deficiency 20
472 EHL015 Ehlers-Danlos Syndrome Progeroid Type 20
473 CLL040 Callosities, Hereditary Painful 18
474 ECC003 Eccrine Papillary Adenoma 16
475 c PLY163 Polydactyly, Postaxial, Type A2 16
476 LNR009 Linear Atrophoderma of Moulin 15
477 FCL040 Focal Acral Hyperkeratosis 15
478 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
479 c PLY101 Polydactyly, Postaxial, Type A6 15
480 c PLY144 Polydactyly, Postaxial, Type A7 14
481 c PLY103 Polydactyly, Postaxial, Type A5 13
482 c PLY054 Polydactyly, Postaxial, Type A4 12
483 c PLY053 Polydactyly, Postaxial, Type A3 11
484 TBR017 Tuberculin Skin Test Reactivity, Absence of 9
485 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 9
486 IRS001 Iris Spindle Cell Melanoma 7
487 DRM047 Dermatoglyphics--Arch on Any Digit 7
488 PGM003 Pigmentation Disease 45
489 CMP007 Complement Component 5 Deficiency 42
490 PST011 Pustulosis of Palm and Sole 42
491 SKN006 Skin Sarcoidosis 40
492 MYX013 Myxofibrosarcoma 40
493 NRD001 Neurodermatitis 37
494 SBC009 Sebaceous Adenoma 37
495 SNL003 Senile Angioma 35
496 MLN002 Melanomatosis 35
497 GRN003 Granulomatous Dermatitis 34
498 STR096 Striate Palmoplantar Keratoderma 32
499 HDR001 Hidrocystoma 32
500 OVR104 Ovarian Melanoma 31
501 MDD015 Mid-Dermal Elastolysis 30
502 CTN012 Cutaneous Leiomyosarcoma 28
503 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27
504 c JVN011 Juvenile Dermatitis Herpetiformis 27
505 CTN010 Cutaneous Ganglioneuroma 25
506 P PNC113 Punctate Palmoplantar Keratoderma 23
507 LMY001 Leiomyoma Cutis 21
508 BLL002 Balloon Cell Malignant Melanoma 21
509 SHH004 Shaheen Syndrome 20
510 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
511 SPN011 Spongiotic Dermatitis 19
512 c RTH005 Rothmund-Thomson Syndrome Type 2 19
513 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 18
514 DRM046 Dermal Ridges-off-the-End 17
515 c RTH004 Rothmund-Thomson Syndrome Type 1 17
516 RSS027 Russell-Silver Syndrome, X-Linked 17
517 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 17
518 EPD052 Epidermolysis Bullosa Simplex Superficialis 17
519 c DMN009 Dominant Ichthyosis Vulgaris 16
520 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 16
521 KRT066 Keratosis, Focal Palmoplantar and Gingival 16
522 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 15
523 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
524 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 14
525 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 14
526 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 13
527 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 13
528 LNR017 Linear Focal Elastosis 13
529 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
530 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
531 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 12
532 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
533 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 11
534 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
535 PSD110 Pseudoatrophoderma Colli 11
536 ACR075 Acral Dystrophic Epidermolysis Bullosa 10
537 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 10
538 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
539 NNT046 Neonatal Dermatomyositis 10
540 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
541 P CRV009 Cervix Melanoma 9
542 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 9
543 NCR008 Necrotic Uveal Melanoma 9
544 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 9
545 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
546 DRM049 Dermatoglyphics--Fingerprint Pattern 8
547 c MLN068 Melanoma, Malignant Familial Intraocular 8
548 DRM045 Dermal Ridges, Patternless 8
549 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 7
550 DRM044 Dermal Ridges, Nelson Syndrome 7
551 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 7
552 DRM052 Dermatoglyphics--Hypothenar Radial Arch 6
553 HST020 Histiocytic Dermatoarthritis 6
554 PRT089 Partial Deep Dermal and Full Thickness Burns 6
555 ECZ001 Eczematous Dermatitis of Eyelid 6
556 XRD002 Xeroderma of Eyelid 6
557 CTN008 Cutaneous Liposarcoma 6
558 NVD002 Nevada Syndrome 6
559 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
560 CLR008 Ciliary Body Mixed Cell Melanoma 6
561 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
562 IRS002 Iris Mixed Cell Melanoma 6
563 END012 Endometriosis in Scar of Skin 5
564 PLN004 Plantar Verrucous Skin Carcinoma 5
565 NNT043 Neonatal Scleroderma 5
566 MLG109 Malignant Melanoma of the Mucosa 4
567 LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 3
568 DRM048 Dermatoglyphics--Finger Ridge Count 3
569 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 3
570 PSR001 Psoriatic Arthritis 65
571 c MCP049 Mucopolysaccharidosis, Type Vii 63
572 P CNG411 Congenital Disorder of Glycosylation, Type in 62
573 c MCP024 Mucopolysaccharidosis Type Vi 62
574 P EXN002 Exanthem 61
575 P EHL001 Ehlers-Danlos Syndrome 60
576 c MCP001 Mucopolysaccharidosis Iii 60
577 URT039 Urticaria 60
578 c MCP004 Mucopolysaccharidosis Iv 59
579 P OCL002 Oculocutaneous Albinism 58
580 c LPM012 Lipomatosis, Multiple 58
581 P LCH002 Lichen Planus 57
582 RSC001 Rosacea 57
583 P ANG015 Angioedema 57
584 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 56
585 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 56
586 c CWD006 Cowden Syndrome 1 55
587 P ACT008 Actinic Keratosis 54
588 CLL003 Cellulitis 53
589 KRT009 Keratosis 53
590 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
591 c MCP043 Mucopolysaccharidosis, Type Iiia 52
592 P CTN003 Cutaneous Lupus Erythematosus 52
593 P HRD018 Hair Disease 51
594 NNT012 Neonatal Jaundice 51
595 P LPM005 Lipomatosis 50
596 P APL006 Aplasia Cutis Congenita 50
597 HYP077 Hypertrichosis 50
598 P MCP040 Mucopolysaccharidosis-Plus Syndrome 50
599 FLL008 Folliculitis 50
600 HNN001 Hennekam Syndrome 50
601 c ANG068 Angioedema, Hereditary, Type I 49
602 PNN001 Panniculitis 49
603 P WLL002 Weill-Marchesani Syndrome 49
604 ANH002 Anhidrosis 48
605 P KRN004 Kernicterus 48
606 CRB016 Carbuncle 48
607 c JVN003 Juvenile Xanthogranuloma 48
608 DSC009 Discoid Lupus Erythematosus 47
609 c TRC092 Trichorhinophalangeal Syndrome, Type I 47
610 HYP457 Hypertrophic Scars 47
611 c EHL033 Ehlers-Danlos Syndrome, Classic Type 46
612 HDR003 Hidradenitis 46
613 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
614 IMP004 Impetigo 45
615 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
616 DCB001 Decubitus Ulcer 45
617 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
618 c ACQ012 Acquired Angioedema 44
619 c CHL140 Chilblain Lupus 1 44
620 PTY001 Pityriasis Rosea 44
621 PRN049 Paraneoplastic Pemphigus 44
622 c MCP044 Mucopolysaccharidosis, Type Iiib 44
623 c MCP047 Mucopolysaccharidosis, Type Iva 44
624 PRP056 Porphyria, Acute Hepatic 42
625 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
626 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
627 LCH004 Lichen Disease 41
628 PSD016 Pseudosarcomatous Fibromatosis 41
629 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
630 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
631 BLL012 Bullous Impetigo 39
632 c PSR017 Psoriasis 2 39
633 AND014 Androgenic Alopecia 39
634 c FRN036 Frontonasal Dysplasia 1 39
635 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
636 c PSR028 Psoriasis 7 38
637 c PSR032 Psoriasis 11 38
638 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 38
639 ECT004 Ecthyma 37
640 c PSR023 Psoriasis 1 37
641 c PSR018 Psoriasis 13 37
642 c SBC035 Subacute Cutaneous Lupus Erythematosus 37
643 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 36
644 FXD003 Fixed Drug Eruption 36
645 MND025 Mandibulofacial Dysostosis with Alopecia 36
646 DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 36
647 MLR009 Miliaria 36
648 RTC008 Reticulate Acropigmentation of Kitamura 36
649 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
650 c MCP051 Mucopolysaccharidosis, Type Ix 36
651 APC003 Apocrine Adenoma 36
652 HYP022 Hypohidrosis 35
653 LCH016 Lichen Sclerosus Et Atrophicus 35
654 ATR013 Atrichia with Papular Lesions 35
655 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 35
656 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
657 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
658 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
659 c APL023 Aplasia Cutis Congenita, Nonsyndromic 34
660 c MCP045 Mucopolysaccharidosis, Type Iiic 34
661 TRM011 Terminal Osseous Dysplasia 34
662 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
663 c CNG379 Congenital Disorder of Glycosylation, Type It 34
664 NVS007 Nevus of Ota 34
665 MLR001 Miliaria Rubra 33
666 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 33
667 c PRP091 Porphyria Cutanea Tarda, Type I 33
668 ERY002 Erythema Infectiosum 33
669 FLL019 Follicular Mucinosis 33
670 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
671 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
672 LCH014 Lichen Amyloidosis 32
673 LCH003 Lichen Nitidus 32
674 FLL042 Folliculotropic Mycosis Fungoides 31
675 SCL002 Scleredema Adultorum 31
676 c WLL036 Weill-Marchesani Syndrome 1 31
677 TLG001 Telogen Effluvium 31
678 SLR005 Solar Urticaria 31
679 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
680 c MCP046 Mucopolysaccharidosis, Type Iiid 31
681 INV005 Inverted Follicular Keratosis 31
682 PHY008 Physical Urticaria 31
683 PMP010 Pompholyx 31
684 c MCP048 Mucopolysaccharidosis, Type Ivb 30
685 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
686 PMP009 Pemphigus Erythematosus 30
687 PPL017 Papillary Hidradenoma 30
688 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
689 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
690 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
691 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
692 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
693 c CNG188 Congenital Disorder of Glycosylation, Type if 30
694 c ALB019 Albinism, Oculocutaneous, Type Iv 29
695 HRP002 Herpes Gestationis 29
696 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 29
697 c WLL037 Weill-Marchesani Syndrome 2 29
698 P PLT008 Pili Torti 29
699 MLN005 Melanoacanthoma 29
700 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 29
701 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
702 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
703 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
704 BNG069 Benign Cephalic Histiocytosis 29
705 PRP093 Pierpont Syndrome 29
706 IMP001 Impetigo Herpetiformis 29
707 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
708 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 29
709 DRG013 Drug-Induced Lupus Erythematosus 28
710 PMP008 Pemphigus Vegetans 28
711 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
712 CHL035 Cholinergic Urticaria 28
713 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
714 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
715 ACR004 Acrokeratosis Verruciformis 28
716 LRY022 Laryngoonychocutaneous Syndrome 28
717 c ALB015 Albinism, Oculocutaneous, Type V 28
718 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
719 NDL010 Nodular Hidradenoma 28
720 KPP002 Keppen-Lubinsky Syndrome 28
721 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
722 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
723 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
724 PRM206 Premature Aging Syndrome, Penttinen Type 27
725 TKN001 Takenouchi-Kosaki Syndrome 26
726 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
727 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
728 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
729 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
730 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
731 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
732 KRT047 Keratosis Pilaris Atrophicans 26
733 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
734 ERY066 Erythema Multiforme Major 25
735 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
736 c ALB017 Albinism, Oculocutaneous, Type Vi 25
737 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
738 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
739 c ANG045 Angioedema, Hereditary, Type Iii 25
740 SLF015 Self-Improving Collodion Baby 25
741 DGT002 Digital Clubbing, Isolated Congenital 25
742 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
743 P ADL037 Adult Xanthogranuloma 25
744 P FRN033 Frontonasal Dysplasia 2 25
745 PSD078 Pseudofolliculitis Barbae 25
746 ANG062 Angioosteohypertrophic Syndrome 25
747 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
748 CLR013 Clear Cell Hidradenoma 25
749 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
750 CLC064 Calcifying Aponeurotic Fibroma 25
751 PHK008 Phakomatosis Cesioflammea 24
752 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
753 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 24
754 MNG001 Mongolian Spot 24
755 c CWD008 Cowden Syndrome 6 24
756 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
757 c WLL038 Weill-Marchesani Syndrome 3 24
758 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
759 c CWD004 Cowden Syndrome 5 24
760 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
761 c WLL040 Weill-Marchesani Syndrome 4 23
762 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
763 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
764 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
765 c ALB016 Albinism, Oculocutaneous, Type Vii 23
766 GNR023 Generalized Eruptive Histiocytosis 23
767 P TRC031 Trichorhinophalangeal Syndrome 23
768 c FML324 Familial Porphyria Cutanea Tarda 22
769 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
770 PRG077 Progressive Nodular Histiocytosis 22
771 P PPL026 Papular Mucinosis 22
772 c CWD007 Cowden Syndrome 3 22
773 DRM043 Dermochondrocorneal Dystrophy 22
774 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 22
775 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 22
776 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
777 MCL047 Macular Amyloidosis 22
778 ULC005 Ulcer of Lower Limbs 22
779 EXF002 Exfoliative Ichthyosis 22
780 P CTS012 Cutis Verticis Gyrata 22
781 VLV039 Vulvar Seborrheic Keratosis 22
782 c FRN032 Frontonasal Dysplasia 3 22
783 HRP026 Herpetiform Pemphigus 21
784 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 21
785 LDW001 Ludwig's Angina 21
786 c EHL065 Ehlers-Danlos Syndrome, Type V 21
787 c PLT022 Pili Torti, Early-Onset 21
788 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
789 BLL015 Bullous Lichen Planus 20
790 TLN007 Telangiectasia, Hereditary Benign 20
791 VLV046 Vulvovaginal Gingival Syndrome 20
792 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
793 CYT017 Cytophagic Histiocytic Panniculitis 20
794 c CWD009 Cowden Syndrome 7 20
795 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
796 OCL057 Oculotrichodysplasia 20
797 ERY010 Erythrasma 20
798 GNR033 Generalized Eruptive Keratoacanthoma 20
799 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
800 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
801 GRM003 German Syndrome 19
802 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
803 DFF009 Diffuse Lipomatosis 19
804 IND009 Indeterminate Cell Histiocytosis 19
805 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 19
806 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
807 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 19
808 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
809 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
810 c CWD003 Cowden Syndrome 2 19
811 c CWD005 Cowden Syndrome 4 19
812 CRN224 Craniofaciofrontodigital Syndrome 19
813 LPS018 Lupus Erythematosus Panniculitis 18
814 TRC114 Trichodental Dysplasia 18
815 HST018 Histiocytosis, Progressive Mucinous 18
816 CTN005 Cutaneous Diphtheria 18
817 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 18
818 c BLL009 Bullous Dystrophy Hereditary Macular Type 18
819 PPL038 Papular Xanthoma 18
820 CNJ004 Conjunctival Pigmentation 18
821 TLN012 Telangiectasia Macularis Eruptiva Perstans 18
822 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
823 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
824 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 17
825 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
826 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
827 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
828 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
829 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
830 ELS004 Elastofibroma Dorsi 17
831 c CHL114 Chilblain Lupus 2 17
832 HYP641 Hypotrichosis Simplex of the Scalp 17
833 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 16
834 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 16
835 LNR012 Linear Verrucous Nevus Syndrome 16
836 c HRN019 Hair-an Syndrome 16
837 DRM038 Dermotrichic Syndrome 16
838 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
839 CTN031 Cutaneous Pseudolymphoma 16
840 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
841 VRS002 Virus-Associated Trichodysplasia Spinulosa 16
842 PHK006 Phakomatosis Pigmentokeratotica 15
843 ANT063 Anti-P200 Pemphigoid 15
844 ERY050 Erythema Palmare Hereditarium 15
845 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
846 PPL044 Papular Elastorrhexis 15
847 CRM002 Ceruminoma 15
848 c TYP003 Type I Ehlers-Danlos Syndrome 15
849 WRT005 Warty Dyskeratoma 14
850 P NDL017 Nodular Cutaneous Amyloidosis 14
851 MDS003 Mediastinal Lipomatosis 14
852 ONY005 Onychomatricoma 14
853 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 14
854 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 14
855 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
856 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
857 CNG248 Congenital Smooth Muscle Hamartoma 14
858 BLL014 Bullous Diffuse Cutaneous Mastocytosis 14
859 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 14
860 ANN015 Anonychia with Flexural Pigmentation 13
861 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 13
862 LCL017 Localized Pagetoid Reticulosis 13
863 CNG238 Congenital Panfollicular Nevus 13
864 ACR078 Acral Self-Healing Collodion Baby 12
865 P BLL013 Bullous Dystrophy, Macular Type 12
866 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
867 c PSR025 Psoriasis 4 12
868 c PSR026 Psoriasis 5 12
869 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 12
870 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
871 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 12
872 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 12
873 13Q001 13q12.3 Microdeletion Syndrome 12
874 PLB003 Pili Bifurcati 12
875 INF022 Inflamed Seborrheic Keratosis 12
876 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
877 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
878 ACR080 Acral Persistent Papular Mucinosis 11
879 c ACQ036 Acquired Angioedema Type 2 11
880 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 11
881 AMY054 Amyloidosis Cutis Dyschromia 11
882 PRM233 Primary Cutaneous Plasmacytosis 11
883 c PSR027 Psoriasis 6 11
884 c KRT070 Keratosis, Familial Actinic 11
885 c LCH017 Lichen Planus, Familial 11
886 PLG007 Pili Gemini 11
887 CRC033 Circumscribed Palmoplantar Hypokeratosis 10
888 HMN008 Hemangioma of Subcutaneous Tissue 10
889 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 10
890 WHT012 White Fibrous Papulosis of the Neck 10
891 c PSR024 Psoriasis 3 10
892 c PSR029 Psoriasis 9 10
893 c PSR030 Psoriasis 8 10
894 c PSR031 Psoriasis 10 10
895 SLF008 Self-Healing Papular Mucinosis 10
896 c KRN003 Kernicterus Due to Isoimmunization 10
897 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
898 c PSR033 Psoriasis 12 9
899 GRN047 Granulomatous Disease with Defect in Neutrophil Chemotaxis 9
900 c PRM185 Primary Essential Cutis Verticis Gyrata 9
901 DDY001 Didymosis Aplasticosebacea 9
902 P APL009 Aplasia Cutis Congenita of Limbs Recessive 9
903 NDL018 Nodular Urticaria Pigmentosa 9
904 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
905 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
906 PHK009 Phakomatosis Cesiomarmorata 8
907 CLC050 Calciphylaxis Cutis 8
908 DSC010 Discrete Papular Lichen Myxedematosus 8
909 c PPL045 Papular Mucinosis of Infancy 8
910 ATY027 Atypical Lichen Myxedematosus 8
911 c ACQ035 Acquired Angioedema Type 1 7
912 MXL007 Maxillary Sinus Cholesteatoma 7
913 STR006 Stromal Corneal Pigmentation 7
914 c SX2003 Six2-Related Frontonasal Dysplasia 7
915 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
916 PHK010 Phakomatosis Spilorosea 7
917 ANG056 Angora Hair Nevus 7
918 CHL020 Cholesteatoma of Attic 6
919 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
920 NDL019 Nodular Lichen Myxedematosus 6
921 FBR006 Fibroepithelial Polyp of the Anus 6
922 TYP022 Typical Urticaria Pigmentosa 6
923 PLQ001 Plaque-Form Urticaria Pigmentosa 6
924 FBR005 Fibroepithelial Polyp of Urethra 6
925 VLV014 Vulva Fibroepithelial Polyp 6
926 c RRL001 Rare Lichen Planus 5
927 VLV007 Vulvar Inverted Follicular Keratosis 5
928 CHN007 Chondroid Syringoma of the Vulva 5
929 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
930 CNF001 Confetti-Like Macular Atrophy 4
931 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
932 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
933 SCL040 Scleromyxedema Without Monoclonal Gammopathy 4
934 ACQ032 Acquired Kinky Hair Syndrome 4
935 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
936 c AMY014 Amyloidosis Nodular Localized Cutaneous 4
937 STR010 Steroid Lipomatosis 4
938 c BCT003 Bacterial Exanthem 3
939 KRT058 Keratoderma, Palmoplantar, with Deafness 27
940 BSC001 Buschke-Ollendorff Syndrome 48
941 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40
942 NXS001 Naxos Disease 47
943 GRD006 Geroderma Osteodysplastica 26
944 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
945 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 25
946 ALL010 Allergic Contact Dermatitis 59
947 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 51
948 SQM006 Squamous Cell Carcinoma 59
949 MJD001 Majeed Syndrome 34
950 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 17
951 BZX001 Bazex Syndrome 42
952 MLN047 Melanoma-Pancreatic Cancer Syndrome 25
953 GMZ002 Gomez-Lopez-Hernandez Syndrome 29
954 EPD081 Epidermoid Brain Cyst 13
955 MLD006 Mal De Meleda 38
956 BCK005 Becker Nevus Syndrome 27
957 AQG003 Aquagenic Syringeal Acrokeratoderm 14
958 NTH001 Netherton Syndrome 60
959 EPD006 Epidermolysis Bullosa Acquisita 49
960 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 39
961 NDL009 Nodular Basal Cell Carcinoma 35
962 KRT013 Keratolytic Winter Erythema 28
963 GNT018 Gianotti Crosti Syndrome 25
964 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 53
965 DFF035 Diffuse Cutaneous Systemic Sclerosis 52
966 ICH002 Ichthyosis Bullosa of Siemens 48
967 LNR006 Linear Iga Disease 44
968 c CLR017 Clear Cell Sarcoma 50
969 PPL049 Papillon-Lefevre Syndrome 50
970 BRK001 Brooke-Spiegler Syndrome 44
971 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 34
972 P SML002 Small Cell Sarcoma 32
973 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 31
974 GRD005 Geroderma Osteodysplasticum 28
975 MTT001 Metatypical Basal Cell Carcinoma 19
976 JNS005 Jones Hersh Yusk Syndrome 10
977 BLM001 Bloom Syndrome 60
978 ABL002 Ablepharon-Macrostomia Syndrome 54
979 GNT020 Giant Congenital Nevus 46
980 CTN013 Cutaneous Anthrax 34
981 GRV012 Grover's Disease 33
982 BLL006 Bullous Pemphigoid 63
983 P CRN038 Carney Complex Variant 61
984 ERY003 Erythema Multiforme 60
985 CHN055 Chanarin-Dorfman Syndrome 51
986 MCS006 Macs Syndrome 44
987 c PSR021 Psoriasis 14, Pustular 44
988 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
989 P PST059 Pustular Psoriasis 40
990 c SKN012 Skin Carcinoma in Situ 33
991 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
992 c CRN243 Carney Complex, Type 1 29
993 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
994 ECT073 Ectodermal Dysplasia/short Stature Syndrome 21
995 ABS001 Absence of Fingerprints Congenital Milia 17
996 c PSR022 Psoriasis 15, Pustular 17
997 c CRN298 Carney Complex, Type 2 13
998 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
999 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 59
1000 HYP691 Hypomelanosis of Ito 51
1001 P FNC043 Fanconi Anemia, Complementation Group E 51
1002 P BRT029 Brittle Cornea Syndrome 2 49
1003 c FNC042 Fanconi Anemia, Complementation Group D2 49
1004 P ICH001 Ichthyosis Vulgaris 45
1005 CRS005 Crest Syndrome 42
1006 PGT003 Paget Disease, Extramammary 38
1007 c FNC045 Fanconi Anemia, Complementation Group F 36
1008 CTN009 Cutaneous Adenocystic Carcinoma 32
1009 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
1010 SCH038 Schopf-Schulz-Passarge Syndrome 30
1011 c FNC024 Fanconi Anemia, Complementation Group D1 28
1012 ECC008 Eccrine Sweat Gland Neoplasm 25
1013 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 21
1014 TCH005 Tièche-Jadassohn Nevus 20
1015 CTN002 Cutaneous Mucoepidermoid Carcinoma 19
1016 BRS103 Bier Spots 14
1017 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 11
1018 JDG001 Judge Misch Wright Syndrome 7
1019 GRR001 Garret Tripp Syndrome 5
1020 c BSL007 Basal Cell Carcinoma 64
1021 PMS001 Poems Syndrome 63
1022 P SML001 Small Cell Carcinoma 58
1023 c LRG001 Large Cell Carcinoma 48
1024 MLT152 Multiple Self-Healing Squamous Epithelioma 43
1025 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 39
1026 PRP005 Parapsoriasis 35
1027 c CLL013 Cell Type Cancer 35
1028 c BSL024 Basal Cell Carcinoma 1 35
1029 c BSL011 Basal Cell Carcinoma, Multiple 34
1030 c CLL012 Cell Type Benign Neoplasm 32
1031 OCL034 Oculocerebrocutaneous Syndrome 32
1032 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 32
1033 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1034 HMM002 Haim-Munk Syndrome 31
1035 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1036 BDN002 Bednar Tumor 25
1037 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 23
1038 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1039 c BSL034 Basal Cell Carcinoma 7 13
1040 c BSL025 Basal Cell Carcinoma 2 12
1041 c BSL028 Basal Cell Carcinoma 5 12
1042 c BSL026 Basal Cell Carcinoma 3 11
1043 c BSL027 Basal Cell Carcinoma 4 11
1044 c BSL029 Basal Cell Carcinoma 6 11
1045 YSH001 Yusho Disease 11
1046 NLS001 Nelson Syndrome 48
1047 P SYR003 Syringoma 41
1048 P SPR013 Spiradenoma 39
1049 c MLG036 Malignant Spiradenoma 34
1050 VLV034 Vulva Squamous Cell Carcinoma 33
1051 c MLG049 Malignant Syringoma 32
1052 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 31
1053 CNJ018 Conjunctival Squamous Cell Carcinoma 28
1054 PNC060 Punctate Porokeratosis 27
1055 CTN027 Cutaneous Mastocytoma 27
1056 FLY003 Flynn-Aird Syndrome 23
1057 MLN064 Melanoma of Soft Tissue 22
1058 ANL016 Anal Margin Carcinoma 20
1059 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 19
1060 ACT160 Actinic Lichen Planus 18
1061 c SYR009 Syringomas, Multiple 11
1062 ALG003 Al Gazali Aziz Salem Syndrome 11
1063 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1064 P CPL006 Capillary Hemangioma 53
1065 ANL017 Anal Squamous Cell Carcinoma 48
1066 P PRN020 Paranasal Sinus Cancer 43
1067 HDR004 Hidradenoma 42
1068 ANG065 Angioma, Tufted 38
1069 KRT003 Keratinizing Squamous Cell Carcinoma 36
1070 c HMN027 Hemangioma, Capillary Infantile 34
1071 SKN021 Skin Sarcoma 33
1072 HLN001 Halo Nevi 31
1073 GLL015 Gallbladder Squamous Cell Carcinoma 31
1074 ADN015 Adenoid Basal Cell Carcinoma 30
1075 MXL004 Maxillary Sinus Squamous Cell Carcinoma 27
1076 PNS010 Penis Squamous Cell Carcinoma 26
1077 PGM002 Pigmented Basal Cell Carcinoma 26
1078 INF027 Infiltrative Basal Cell Carcinoma 26
1079 ECC002 Eccrine Acrospiroma 25
1080 ECC001 Eccrine Papillary Adenocarcinoma 22
1081 PLM177 Pilomatrix Carcinoma 22
1082 CYS004 Cystic Basal Cell Carcinoma 22
1083 CLR015 Clear Cell Basal Cell Carcinoma 21
1084 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 20
1085 CPL002 Capillary Lymphangioma 19
1086 c MLG048 Malignant Acrospiroma 18
1087 P ACR049 Acrospiroma 18
1088 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 16
1089 HLL006 Halal Setton Wang Syndrome 16
1090 TRC017 Trachea Squamous Cell Carcinoma 15
1091 ULR001 Ulerythema Ophryogenesis 15
1092 PPL004 Papillary Squamous Carcinoma 14
1093 SPR023 Supraglottis Squamous Cell Carcinoma 13
1094 THY027 Thymus Squamous Cell Carcinoma 13
1095 ANL007 Anal Margin Squamous Cell Carcinoma 12
1096 GLT004 Glottis Squamous Cell Carcinoma 12
1097 MCR016 Micronodular Basal Cell Carcinoma 12
1098 SRC003 Sarcomatoid Basal Cell Carcinoma 11
1099 URT034 Urethra Squamous Cell Carcinoma 11
1100 HRY007 Hairy Palms and Soles 11
1101 FRN005 Frontal Sinus Squamous Cell Carcinoma 11
1102 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 9
1103 URT021 Ureter Squamous Cell Carcinoma 9
1104 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8
1105 CRN001 Cornea Squamous Cell Carcinoma 8
1106 ANL013 Anal Margin Basal Cell Carcinoma 8
1107 SQR001 Sequeiros Sack Syndrome 7
1108 SBG004 Subglottis Squamous Cell Carcinoma 7
1109 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 7
1110 GRB001 Grubben De Cock Borghgraef Syndrome 7
1111 BSR001 Basaran Yilmaz Syndrome 7
1112 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7
1113 SGN001 Signet Ring Basal Cell Carcinoma 6
1114 BDH001 Boudhina Yedes Khiari Syndrome 6
1115 RYM001 Roy Maroteaux Kremp Syndrome 6
1116 BRR007 Borrone Di Rocco Crovato Syndrome 6
1117 MLN017 Milner Khallouf Gibson Syndrome 5
1118 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1119 SBC013 Sebaceous Basal Cell Carcinoma 5
1120 ELL003 Elliott Ludman Teebi Syndrome 5
1121 c PRN030 Paranasal Sinus Cancer, Adult 4
1122 c SYS001 Systemic Lupus Erythematosus 86
1123 P FNC027 Fanconi Anemia, Complementation Group a 78
1124 FBR012 Fabry Disease 71
1125 WRN001 Werner Syndrome 69
1126 P CHR012 Chronic Granulomatous Disease 69
1127 P NRF023 Neurofibromatosis, Type Ii 68
1128 P LPS004 Lupus Erythematosus 68
1129 P TBR001 Tuberous Sclerosis 68
1130 P CWD001 Cowden Disease 67
1131 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1132 BHC003 Behcet Syndrome 67
1133 P PSD087 Pseudoxanthoma Elasticum 67
1134 P PRT008 Proteus Syndrome 66
1135 CST001 Costello Syndrome 66
1136 c NRF024 Neurofibromatosis, Type I 66
1137 CHD001 Chediak-Higashi Syndrome 65
1138 P PSR002 Psoriasis 65
1139 CHR063 Chronic Mucocutaneous Candidiasis 65
1140 c TBR026 Tuberous Sclerosis 2 65
1141 CRB011 Cerebrotendinous Xanthomatosis 63
1142 P ALP009 Alopecia Areata 63
1143 c MCP050 Mucopolysaccharidosis, Type Ii 63
1144 FBR011 Fibrodysplasia Ossificans Progressiva 63
1145 MST017 Mast Cell Disease 63
1146 c TBR025 Tuberous Sclerosis 1 62
1147 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1148 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1149 LYM021 Lymphadenitis 61
1150 PRP083 Porphyria, Acute Intermittent 61
1151 CNT061 Conotruncal Heart Malformations 61
1152 DRR014 Darier-White Disease 61
1153 ELL001 Ellis-Van Creveld Syndrome 60
1154 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
1155 ACN002 Acanthosis Nigricans 60
1156 c PCH015 Pachyonychia Congenita 1 59
1157 DNH001 Donohue Syndrome 59
1158 ERD001 Erdheim-Chester Disease 58
1159 ICH054 Ichthyosis, X-Linked 58
1160 PRT118 Protoporphyria, Erythropoietic 58
1161 HLC001 Holocarboxylase Synthetase Deficiency 58
1162 P WRD001 Waardenburg's Syndrome 58
1163 c SPN294 Spinocerebellar Ataxia 1 58
1164 P HLL001 Hallermann-Streiff Syndrome 58
1165 P OCL013 Oculodentodigital Dysplasia 57
1166 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1167 OCL020 Ocular Cicatricial Pemphigoid 57
1168 WLL006 Wells Syndrome 56
1169 P SPN301 Spinocerebellar Ataxia 2 56
1170 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
1171 BTN003 Biotinidase Deficiency 56
1172 ALK013 Alkaptonuria 56
1173 PRP082 Porphyria, Congenital Erythropoietic 55
1174 P CTN015 Cutaneous T Cell Lymphoma 55
1175 P PMP005 Pemphigus Vulgaris 55
1176 PRP032 Porphyria Variegata 55
1177 LPD016 Lipoid Proteinosis of Urbach and Wiethe 55
1178 CCT002 Cicatricial Pemphigoid 54
1179 c TYR012 Tyrosinemia, Type I 54
1180 MVL001 Mevalonic Aciduria 54
1181 PBL005 Piebald Trait 54
1182 ARS001 Aarskog-Scott Syndrome 54
1183 P PMP001 Pemphigus 54
1184 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
1185 ERY017 Erythema Elevatum Diutinum 54
1186 P CRN108 Cranioectodermal Dysplasia 1 53
1187 c SPN291 Spinocerebellar Ataxia 7 53
1188 ART001 Arterial Tortuosity Syndrome 53
1189 MLT135 Multiple Sulfatase Deficiency 53
1190 BRT002 Birt-Hogg-Dube Syndrome 53
1191 PLM026 Pilomatrixoma 53
1192 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1193 CLS005 Clouston Syndrome 52
1194 VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 52
1195 c FML012 Familial Partial Lipodystrophy 52
1196 PST062 Pustulosis Palmaris Et Plantaris 51
1197 c CCK007 Cockayne Syndrome B 51
1198 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 51
1199 P ADM011 Adams-Oliver Syndrome 51
1200 c WRD030 Waardenburg Syndrome, Type 1 51
1201 c CNG012 Congenital Generalized Lipodystrophy 50
1202 MLT145 Multiple Enchondromatosis, Maffucci Type 50
1203 P GND004 Gonadal Dysgenesis 50
1204 P PSD015 Pseudohypoparathyroidism 50
1205 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50
1206 P PTY003 Pityriasis Rubra Pilaris 50
1207 c SPN309 Spinocerebellar Ataxia 6 49
1208 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
1209 CTS011 Cutis Marmorata Telangiectatica Congenita 49
1210 P INF049 Infantile Myofibromatosis 49
1211 HYP088 Hyper-Igd Syndrome 49
1212 NLX004 Neu-Laxova Syndrome 1 49
1213 P KRT005 Keratoacanthoma 49
1214 OCC006 Occipital Horn Syndrome 49
1215 c SPN293 Spinocerebellar Ataxia 12 48
1216 ACT164 Actinic Prurigo 48
1217 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1218 P TYR004 Tyrosinemia 48
1219 LCH011 Lichen Planopilaris 48
1220 c CCK008 Cockayne Syndrome a 48
1221 P LSS002 Lissencephaly 48
1222 ALP097 Alopecia Universalis Congenita 48
1223 P PRK001 Porokeratosis 48
1224 HRT031 Hartnup Disorder 47
1225 ENC010 Encephalocraniocutaneous Lipomatosis 47
1226 c SPN314 Spinocerebellar Ataxia 10 47
1227 c PCH012 Pachyonychia Congenita 2 47
1228 NDL003 Nodular Nonsuppurative Panniculitis 46
1229 c HRM005 Hermansky-Pudlak Syndrome 1 46
1230 KRT071 Keratosis, Seborrheic 46
1231 P PRT078 Partial Lipodystrophy 46
1232 c TYR013 Tyrosinemia, Type Ii 46
1233 c HRM006 Hermansky-Pudlak Syndrome 3 46
1234 FRB001 Farber Lipogranulomatosis 46
1235 c SPN312 Spinocerebellar Ataxia 14 46
1236 c SPN296 Spinocerebellar Ataxia 17 46
1237 MNL001 Monilethrix 46
1238 c ALB021 Albinism, Oculocutaneous, Type Ii 45
1239 c WRD020 Waardenburg Syndrome, Type 4a 45
1240 PYG006 Pyogenic Granuloma 45
1241 PMP004 Pemphigus Foliaceus 45
1242 SYR002 Syringocystadenoma Papilliferum 45
1243 c SPN100 Spinocerebellar Ataxia 27 45
1244 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
1245 P ACQ022 Acquired Generalized Lipodystrophy 44
1246 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44
1247 c 46X001 46 Xy Gonadal Dysgenesis 44
1248 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 44
1249 c SPN311 Spinocerebellar Ataxia 13 44
1250 DYS164 Dyskeratosis Congenita, X-Linked 44
1251 DFF001 Diffuse Cutaneous Mastocytosis 44
1252 ERY004 Erysipelas 43
1253 c LPD019 Lipodystrophy, Partial, Acquired 43
1254 c LSS005 Lissencephaly 1 43
1255 STT007 Steatocystoma Multiplex 43
1256 P PRV002 Periventricular Nodular Heterotopia 43
1257 c SPN305 Spinocerebellar Ataxia 11 43
1258 P PLL002 Pellagra 43
1259 c PRK082 Porokeratosis 1, Multiple Types 43
1260 c TYR011 Tyrosinemia, Type Iii 42
1261 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 42
1262 PRL019 Prolidase Deficiency 42
1263 c SPN265 Spinocerebellar Ataxia 36 42
1264 MLK003 Melkersson-Rosenthal Syndrome 41
1265 c HRM008 Hermansky-Pudlak Syndrome 5 41
1266 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
1267 P DYS023 Dyschromatosis Universalis Hereditaria 41
1268 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1269 SWT003 Sweat Gland Disease 41
1270 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1271 c SPN290 Spinocerebellar Ataxia 15 40
1272 FXF002 Fox-Fordyce Disease 40
1273 c SPN103 Spinocerebellar Ataxia 31 40
1274 c SPN106 Spinocerebellar Ataxia 5 40
1275 GRN007 Granuloma Annulare 40
1276 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1277 PMP002 Pemphigoid Gestationis 40
1278 PRR013 Prurigo Nodularis 40
1279 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 39
1280 c SPN308 Spinocerebellar Ataxia 28 39
1281 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
1282 c WRD032 Waardenburg Syndrome, Type 2a 39
1283 BLR027 Blue Rubber Bleb Nevus 39
1284 PRK003 Parkes Weber Syndrome 39
1285 P UVS001 Uv-Sensitive Syndrome 39
1286 ICH020 Ichthyosis Prematurity Syndrome 38
1287 SBC017 Sebaceous Gland Disease 38
1288 c SPN304 Spinocerebellar Ataxia 8 38
1289 NCR002 Necrobiosis Lipoidica 38
1290 FNT005 Fontaine Progeroid Syndrome 37
1291 c SPN097 Spinocerebellar Ataxia 23 37
1292 MLG141 Malignant Atrophic Papulosis 37
1293 c MYF007 Myofibromatosis, Infantile, 1 37
1294 c PSD117 Pseudohypoparathyroidism, Type Ic 36
1295 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1296 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1297 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1298 XNT009 Xanthoma Disseminatum 36
1299 c ADM005 Adams-Oliver Syndrome 1 36
1300 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36
1301 ORL022 Oral Erosive Lichen 36
1302 c SPN299 Spinocerebellar Ataxia 20 36
1303 PRL042 Proliferating Trichilemmal Cyst 36
1304 LCH013 Lichen Planus Pemphigoides 36
1305 LCL022 Localized Lipodystrophy 36
1306 c SPN094 Spinocerebellar Ataxia 18 36
1307 c LSS006 Lissencephaly 2 35
1308 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
1309 c SYS061 Systemic Lupus Erythematosus 16 35
1310 c WRD024 Waardenburg Syndrome, Type 4c 35
1311 WYR002 Weyers Acrofacial Dysostosis 35
1312 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 35
1313 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 35
1314 VBR001 Vibratory Urticaria 35
1315 LSS001 Loiasis 35
1316 SCL025 Scleromyxedema 34
1317 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 34
1318 NVS015 Nevus Comedonicus 34
1319 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1320 PLV001 Pelvic Lipomatosis 34
1321 c WRD031 Waardenburg Syndrome, Type 3 34
1322 c FML117 Familial Cold Autoinflammatory Syndrome 2 34
1323 HYP137 Hypotrichosis Simplex 34
1324 ANH001 Ainhum 33
1325 c HRM009 Hermansky-Pudlak Syndrome 6 33
1326 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1327 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33
1328 ELS002 Elastosis Perforans Serpiginosa 33
1329 P UNC017 Uncombable Hair Syndrome 1 33
1330 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 33
1331 OCL039 Oculoectodermal Syndrome 32
1332 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1333 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 32
1334 WTK002 Witkop Syndrome 32
1335 c HRM011 Hermansky-Pudlak Syndrome 8 32
1336 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1337 c SPN266 Spinocerebellar Ataxia 35 32
1338 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 32
1339 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
1340 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
1341 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
1342 ALP048 Alopecia Totalis 32
1343 c HRM012 Hermansky-Pudlak Syndrome 9 32
1344 c WRD010 Waardenburg Syndrome Type 4 32
1345 c SPN101 Spinocerebellar Ataxia 29 32
1346 c SPN105 Spinocerebellar Ataxia 4 31
1347 c ALB010 Albinism, Oculocutaneous, Type Ib 31
1348 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1349 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 31
1350 c SPN095 Spinocerebellar Ataxia 19 31
1351 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
1352 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
1353 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
1354 INF046 Infantile Digital Fibromatosis 31
1355 c PCH010 Pachyonychia Congenita 3 31
1356 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
1357 c SPN099 Spinocerebellar Ataxia 26 31
1358 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 31
1359 c PRV019 Periventricular Nodular Heterotopia 1 30
1360 c LSS010 Lissencephaly 4 30
1361 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
1362 c CCK002 Cockayne Syndrome Type I 30
1363 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 30
1364 c SPN096 Spinocerebellar Ataxia 21 30
1365 PRG123 Progeroid Syndrome, Neonatal 30
1366 PRG023 Progeroid Short Stature with Pigmented Nevi 30
1367 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1368 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
1369 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1370 MCP039 Mucoepithelial Dysplasia, Hereditary 29
1371 c SPN104 Spinocerebellar Ataxia 34 29
1372 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29
1373 c WRD019 Waardenburg Syndrome, Type 4b 29
1374 c HRM020 Hermansky-Pudlak Syndrome 10 29
1375 c CCK003 Cockayne Syndrome Type Ii 29
1376 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1377 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 29
1378 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 29
1379 TRC118 Trichodentoosseous Syndrome 29
1380 c FNC062 Fanconi Anemia, Complementation Group S 29
1381 CBB002 Cobb Syndrome 29
1382 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 29
1383 QNQ001 Quinquaud's Decalvans Folliculitis 29
1384 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1385 c FNC023 Fanconi Anemia, Complementation Group N 29
1386 LPD026 Lipedema 29
1387 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1388 c FNC028 Fanconi Anemia, Complementation Group L 29
1389 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 29
1390 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1391 P XLN161 X-Linked Chondrodysplasia Punctata 29
1392 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 29
1393 SCL022 Scleredema 28
1394 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 28
1395 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
1396 P FML313 Familial Progressive Hyperpigmentation 28
1397 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
1398 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 28
1399 c HRM010 Hermansky-Pudlak Syndrome 7 28
1400 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 28
1401 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1402 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1403 c CRN109 Cranioectodermal Dysplasia 2 28
1404 PSD043 Pseudopelade of Brocq 28
1405 c PMP006 Pemphigus Vulgaris, Familial 28
1406 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 28
1407 c DYS139 Dyschromatosis Universalis Hereditaria 3 28
1408 FRN020 Frontal Fibrosing Alopecia 28
1409 c HRM007 Hermansky-Pudlak Syndrome 4 27
1410 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
1411 c SPN383 Spinocerebellar Ataxia 42 27
1412 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 27
1413 LMB008 Limb-Mammary Syndrome 27
1414 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1415 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 27
1416 c SPN098 Spinocerebellar Ataxia 25 27
1417 ALL007 Allergic Urticaria 27
1418 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 27
1419 HYP160 Hyperkeratosis Lenticularis Perstans 27
1420 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
1421 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 27
1422 c ADM007 Adams-Oliver Syndrome 2 27
1423 c SPN247 Spinocerebellar Ataxia Type 19/22 27
1424 c SPN283 Spinocerebellar Ataxia 37 27
1425 c SPN284 Spinocerebellar Ataxia 38 27
1426 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
1427 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 26
1428 P KRT014 Keratosis Follicularis Spinulosa Decalvans 26
1429 RNG030 Ringed Hair 26
1430 c PRT063 Proteus-Like Syndrome 26
1431 LSN002 Loose Anagen Hair Syndrome 26
1432 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
1433 c SPN372 Spinocerebellar Ataxia 43 26
1434 c ADM010 Adams-Oliver Syndrome 5 26
1435 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
1436 HRY005 Hairy Elbows 26
1437 NCR009 Necrobiotic Xanthogranuloma 26
1438 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1439 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1440 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1441 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
1442 HYP180 Hypertrichosis Lanuginosa Congenita 25
1443 c SYS043 Systemic Lupus Erythematosus 1 25
1444 c LPD034 Lipodystrophy, Familial Partial, Type 4 25
1445 STN012 Sting-Associated Vasculopathy, Infantile-Onset 25
1446 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1447 c CCK004 Cockayne Syndrome Type Iii 25
1448 ECC005 Eccrine Adenocarcinoma 25
1449 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
1450 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1451 c PCH011 Pachyonychia Congenita 4 25
1452 c ALP039 Alopecia Areata 1 25
1453 c FNC048 Fanconi Anemia, Complementation Group O 25
1454 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 24
1455 c FNC029 Fanconi Anemia, Complementation Group I 24
1456 KRN007 Kerion Celsi 24
1457 LLS001 Lelis Syndrome 24
1458 c LSS025 Lissencephaly 5 24
1459 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 24
1460 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1461 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24
1462 c CRN111 Cranioectodermal Dysplasia 4 24
1463 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24
1464 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1465 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1466 c SPN286 Spinocerebellar Ataxia 40 24
1467 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 23
1468 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 23
1469 c FNC046 Fanconi Anemia, Complementation Group P 23
1470 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 23
1471 NVD003 Nevoid Hypermelanosis, Linear and Whorled 23
1472 LPS019 Lupus Erythematosus Tumidus 23
1473 c PHL010 Peho-Like Syndrome 23
1474 c CRN110 Cranioectodermal Dysplasia 3 23
1475 GRD004 Gardner-Diamond Syndrome 23
1476 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 23
1477 c SPN323 Spinocerebellar Ataxia 41 23
1478 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
1479 TBS009 Teebi-Shaltout Syndrome 23
1480 ELS005 Elastoma 23
1481 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 22
1482 c WRD029 Waardenburg Syndrome, Type 2b 22
1483 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
1484 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
1485 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
1486 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 22
1487 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 22
1488 c LSS009 Lissencephaly 3 22
1489 LDD006 Ledderhose Disease 22
1490 LCH008 Lichen Planus Pigmentosus 22
1491 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
1492 ART037 Arthrogryposis and Ectodermal Dysplasia 22
1493 c FNC047 Fanconi Anemia, Complementation Group Q 22
1494 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1495 P HYD015 Hydroa Vacciniforme 22
1496 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
1497 ACK001 Ackerman Syndrome 21
1498 c ADM009 Adams-Oliver Syndrome 4 21
1499 c ADM012 Adams-Oliver Syndrome 6 21
1500 c FML223 Familial Keratoacanthoma 21
1501 c SPN259 Spinocerebellar Ataxia 32 21
1502 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1503 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1504 c LSS035 Lissencephaly 8 21
1505 c WRD022 Waardenburg Syndrome, Type 2d 21
1506 c PRK080 Porokeratosis 3, Multiple Types 21
1507 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1508 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21
1509 c SYS038 Systemic Lupus Erythematosus 2 21
1510 c SPN420 Spinocerebellar Ataxia 46 21
1511 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1512 c FNC061 Fanconi Anemia, Complementation Group W 21
1513 c FNC025 Fanconi Anemia, Complementation Group J 21
1514 c PRV018 Periventricular Nodular Heterotopia 7 21
1515 P FML337 Familial Chilblain Lupus 20
1516 c SPN419 Spinocerebellar Ataxia 45 20
1517 c ADM008 Adams-Oliver Syndrome 3 20
1518 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 20
1519 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 20
1520 c FNC057 Fanconi Anemia, Complementation Group U 20
1521 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
1522 c SPN418 Spinocerebellar Ataxia 44 20
1523 PTR029 Pterygium, Antecubital 20
1524 PRM128 Primary Cutaneous Follicle Center Lymphoma 20
1525 c FNC058 Fanconi Anemia, Complementation Group R 20
1526 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 20
1527 c SPN102 Spinocerebellar Ataxia 30 20
1528 c FNC052 Fanconi Anemia, Complementation Group T 20
1529 c VRL008 Viral Exanthem 20
1530 RDR002 Rodrigues Blindness 20
1531 P NNP004 Nonphotosensitive Trichothiodystrophy 20
1532 c FNC056 Fanconi Anemia, Complementation Group V 19
1533 c FML270 Familial Cold Autoinflammatory Syndrome 4 19
1534 c PRV016 Periventricular Nodular Heterotopia 6 19
1535 MRN005 Marie Unna Congenital Hypotrichosis 19
1536 PTY005 Pityriasis Lichenoides Chronica 19
1537 HYP489 Hypotrichosis-Deafness Syndrome 19
1538 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 19
1539 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
1540 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
1541 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1542 c SPN107 Spinocerebellar Ataxia 9 19
1543 PLD002 Pilodental Dysplasia with Refractive Errors 19
1544 c PLL014 Pellagra-Like Syndrome 19
1545 LNR010 Linear Lichen Planus 18
1546 HYP181 Hypertrichosis Lanuginosa, Acquired 18
1547 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
1548 SCL051 Scalp Defects and Postaxial Polydactyly 18
1549 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1550 c UVS005 Uv-Sensitive Syndrome 1 18
1551 c SYS046 Systemic Lupus Erythematosus 3 18
1552 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1553 LNT008 Lentiginosis, Inherited Patterned 18
1554 c PRK084 Porokeratosis 6, Multiple Types 18
1555 ACR039 Acromegaloid Hypertrichosis Syndrome 18
1556 c UVS003 Uv-Sensitive Syndrome 3 18
1557 c PRK075 Porokeratosis 7, Multiple Types 17
1558 PBL004 Piebald Trait with Neurologic Defects 17
1559 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
1560 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1561 c SYS069 Systemic Lupus Erythematosus 6 17
1562 OTN001 Otoonychoperoneal Syndrome 17
1563 c SYS053 Systemic Lupus Erythematosus 5 17
1564 c SPN421 Spinocerebellar Ataxia 47 17
1565 c WRD026 Waardenburg Syndrome, Type 2c 17
1566 BKS002 Book Syndrome 17
1567 c FLN007 Flna-Related Periventricular Nodular Heterotopia 17
1568 c UVS004 Uv-Sensitive Syndrome 2 17
1569 c SPN336 Spinocerebellar Ataxia Type 16 17
1570 c MYF010 Myofibromatosis, Infantile, 2 17
1571 c 46X002 46 Xx Gonadal Dysgenesis 16
1572 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1573 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
1574 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1575 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 16
1576 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 16
1577 TRC052 Trichofolliculoma 16
1578 ATR052 Atrophic Lichen Planus 16
1579 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1580 c DYS090 Dyschromatosis Universalis Hereditaria 1 16
1581 AML012 Ameloonychohypohidrotic Syndrome 16
1582 c UNC019 Uncombable Hair Syndrome 2 16
1583 PLT010 Pili Torti Onychodysplasia 15
1584 c SYS041 Systemic Lupus Erythematosus 9 15
1585 c SYS040 Systemic Lupus Erythematosus 10 15
1586 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1587 ODN008 Odontomicronychial Dysplasia 15
1588 c UNC018 Uncombable Hair Syndrome 3 15
1589 ANN014 Annular Lichen Planus 15
1590 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
1591 HYP182 Hypertrichosis, Anterior Cervical 15
1592 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
1593 PLT021 Pili Torti and Developmental Delay 14
1594 c SYS065 Systemic Lupus Erythematosus 11 14
1595 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1596 ORL024 Oral and Digital Anomalies with Ichthyosis 14
1597 c PRK074 Porokeratosis 9, Multiple Types 14
1598 c ALP040 Alopecia Areata 2 14
1599 c SYS055 Systemic Lupus Erythematosus 12 13
1600 ODN004 Odonto Onycho Dysplasia with Alopecia 13
1601 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 13
1602 c FML348 Familial Pityriasis Rubra Pilaris 13
1603 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 13
1604 c SYS051 Systemic Lupus Erythematosus 4 13
1605 c SYS047 Systemic Lupus Erythematosus 7 13
1606 ANN013 Annular Atrophic Lichen Planus 13
1607 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 12
1608 SCL044 Scalp Syndrome 12
1609 CHR175 Chromhidrosis 12
1610 ACR040 Acromelanosis 12
1611 ALP049 Alopecia Antibody Deficiency 12
1612 P PCH020 Pachyonychia Congenita, Autosomal Recessive 12
1613 c SYS048 Systemic Lupus Erythematosus 8 11
1614 c SYS052 Systemic Lupus Erythematosus 13 11
1615 c SYS045 Systemic Lupus Erythematosus 14 11
1616 ONY004 Onychocytic Matricoma 11
1617 c DYS091 Dyschromatosis Universalis Hereditaria 2 11
1618 HYP742 Hyperpigmentation of Eyelids 11
1619 ONY006 Onychodystrophy-Anonychia 10
1620 c SYS067 Systemic Lupus Erythematosus 15 10
1621 PMP003 Pemphigus and Fogo Selvagem 10
1622 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1623 CHL021 Cholesteatoma of External Ear 10
1624 c HYD016 Hydroa Vacciniforme, Familial 10
1625 GNN001 Genuine Diffuse Phlebectasia 9
1626 c HLL012 Hallermann-Streiff-Like Syndrome 9
1627 RCH009 Roch-Leri Mesosomatous Lipomatosis 9
1628 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1629 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1630 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
1631 ACH007 Achenbach Syndrome 8
1632 HYP046 Hypopigmentation of Eyelid 7
1633 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1634 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7
1635 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1636 CRM003 Ceruminous Carcinoma 6
1637 VRR005 Verrucous Nevus Acanthokeratolytic 6
1638 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
1639 c OCL037 Oculodentodigital Dysplasia Dominant 5
1640 CYL004 Cylindromatosis, Familial 31
1641 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 12
1642 BLS001 Blau Syndrome 59
1643 TYL002 Tylosis with Esophageal Cancer 28
1644 DRM050 Dermographism, Familial 22
1645 PFF001 Pfeiffer Syndrome 73
1646 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 31
1647 MCC012 Mccune-Albright Syndrome 64
1648 CHL122 Cholesteatoma of Middle Ear 41
1649 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
1650 BP1002 Bap1 Tumor Predisposition Syndrome 35
1651 P GRS003 Griscelli Syndrome 56
1652 c GRS014 Griscelli Syndrome, Type 2 49
1653 c GRS013 Griscelli Syndrome, Type 1 47
1654 c GRS012 Griscelli Syndrome, Type 3 39
1655 CRR017 Curry-Jones Syndrome 33
1656 ADR007 Adrenoleukodystrophy 71
1657 SZR001 Sezary's Disease 63
1658 DSC014 Discoid Fibromas, Familial Multiple 17
1659 P CND004 Candidiasis 60
1660 P TRC102 Trichothiodystrophy 1, Photosensitive 51
1661 LYM008 Lymphangiosarcoma 51
1662 FRN039 Frank-Ter Haar Syndrome 38
1663 ECC004 Eccrine Porocarcinoma 36
1664 c CND034 Candidiasis, Familial, 2 29
1665 c CND036 Candidiasis, Familial, 4 25
1666 c FML334 Familial Candidiasis 24
1667 c CND025 Candidiasis, Familial, 8 22
1668 c CND033 Candidiasis, Familial, 1 21
1669 c TRC100 Trichothiodystrophy 3, Photosensitive 20
1670 c CND031 Candidiasis, Familial, 9 19
1671 c CND037 Candidiasis, Familial, 6 18
1672 c TRC099 Trichothiodystrophy 2, Photosensitive 17
1673 c CND027 Candidiasis, Familial, 3 16
1674 DNT019 Daentl Towsend Siegel Syndrome 11
1675 LNG039 Lung Squamous Cell Carcinoma 59
1676 BLD047 Bladder Squamous Cell Carcinoma 49
1677 CPL013 Capillary Malformations, Congenital 39
1678 OST014 Osteopoikilosis 38
1679 c MNT185 Mental Retardation, Autosomal Dominant 7 28
1680 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1681 BSL044 Basal Cell Carcinoma, Infundibulocystic 27
1682 c MNT212 Mental Retardation, Autosomal Dominant 26 27
1683 c MNT145 Mental Retardation, Autosomal Recessive 5 26
1684 c MNT143 Mental Retardation, Autosomal Dominant 13 26
1685 c MNT210 Mental Retardation, Autosomal Recessive 42 25
1686 c MNT157 Mental Retardation, Autosomal Dominant 18 25
1687 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1688 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1689 c MNT322 Mental Retardation, Autosomal Dominant 27 25
1690 c MNT270 Mental Retardation, Autosomal Recessive 53 25
1691 c MNT241 Mental Retardation, Autosomal Dominant 32 24
1692 c MNT166 Mental Retardation, Autosomal Recessive 39 24
1693 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1694 c MNT214 Mental Retardation, Autosomal Dominant 24 24
1695 c MNT287 Mental Retardation, Autosomal Recessive 57 24
1696 c MNT246 Mental Retardation, Autosomal Dominant 38 24
1697 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1698 MDD007 Middle Ear Squamous Cell Carcinoma 23
1699 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1700 c MNT150 Mental Retardation, Autosomal Recessive 15 23
1701 c MNT239 Mental Retardation, Autosomal Dominant 35 23
1702 c MNT155 Mental Retardation, Autosomal Recessive 2 23
1703 c MNT219 Mental Retardation, Autosomal Dominant 30 23
1704 c MNT262 Mental Retardation, Autosomal Dominant 42 23
1705 c MNT226 Mental Retardation, Autosomal Dominant 31 23
1706 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1707 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1708 c MNT321 Mental Retardation, Autosomal Recessive 37 23
1709 c MNT238 Mental Retardation, Autosomal Dominant 34 22
1710 c MNT183 Mental Retardation, Autosomal Recessive 36 22
1711 c MNT273 Mental Retardation, Autosomal Dominant 44 22
1712 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1713 c MNT159 Mental Retardation, Autosomal Dominant 19 22
1714 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1715 c MNT211 Mental Retardation, Autosomal Dominant 23 22
1716 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1717 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1718 c MNT236 Mental Retardation, Autosomal Dominant 39 21
1719 c MNT244 Mental Retardation, Autosomal Recessive 49 21
1720 c MNT179 Mental Retardation, Autosomal Dominant 21 21
1721 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1722 c MNT325 Mental Retardation, Autosomal Recessive 61 21
1723 c MNT177 Mental Retardation, Autosomal Recessive 27 21
1724 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1725 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1726 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1727 c MNT234 Mental Retardation, Autosomal Recessive 48 20
1728 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1729 CLN009 Colon Squamous Cell Carcinoma 20
1730 c MNT154 Mental Retardation, Autosomal Recessive 14 20
1731 c MNT328 Mental Retardation, Autosomal Dominant 52 20
1732 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1733 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1734 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1735 c MNT272 Mental Retardation, Autosomal Dominant 41 19
1736 c MNT324 Mental Retardation, Autosomal Dominant 49 19
1737 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1738 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1739 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1740 c MNT329 Mental Retardation, Autosomal Dominant 53 19
1741 c MNT286 Mental Retardation, Autosomal Dominant 45 18
1742 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1743 c MNT327 Mental Retardation, Autosomal Dominant 51 18
1744 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1745 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1746 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1747 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1748 c MNT330 Mental Retardation, Autosomal Dominant 54 18
1749 c MNT326 Mental Retardation, Autosomal Dominant 50 18
1750 c MNT151 Mental Retardation, Autosomal Recessive 18 18
1751 c MNT186 Mental Retardation, Autosomal Dominant 10 18
1752 c MNT184 Mental Retardation, Autosomal Dominant 11 18
1753 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1754 c MNT279 Mental Retardation, Autosomal Dominant 47 18
1755 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1756 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1757 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1758 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1759 c MNT278 Mental Retardation, Autosomal Dominant 46 17
1760 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1761 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1762 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1763 c MNT332 Mental Retardation, Autosomal Dominant 56 14
1764 RNL009 Renal Pelvis Squamous Cell Carcinoma 14
1765 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 14
1766 c ATS394 Autosomal Dominant Mental Retardation 55 8
1767 c ATS395 Autosomal Dominant Mental Retardation 61 8
1768 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
1769 TLF001 Telfer Sugar Jaeger Syndrome 8
1770 EXT016 External Ear Squamous Cell Carcinoma 7
1771 TNG005 Tang Hsi Ryu Syndrome 7
1772 P ATX030 Ataxia-Telangiectasia 79
1773 P NNN008 Noonan Syndrome 1 77
1774 MYC006 Mycosis Fungoides 72
1775 PTZ001 Peutz-Jeghers Syndrome 70
1776 P DYS007 Dyskeratosis Congenita 67
1777 P CRD224 Cardiofaciocutaneous Syndrome 1 64
1778 P CCK001 Cockayne Syndrome 63
1779 MNK001 Menkes Disease 63
1780 RFS006 Refsum Disease, Classic 62
1781 CNC002 Cinca Syndrome 62
1782 P HRM001 Hermansky-Pudlak Syndrome 62
1783 KLP010 Klippel-Trenaunay-Weber Syndrome 60
1784 INC021 Incontinentia Pigmenti 59
1785 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
1786 STR039 Sturge-Weber Syndrome 59
1787 LCR014 Lacrimoauriculodentodigital Syndrome 58
1788 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 56
1789 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1790 c HRD002 Hereditary Angioedema 56
1791 CPR004 Coproporphyria, Hereditary 56
1792 NPH018 Nephrogenic Systemic Fibrosis 55
1793 NLP001 Nail-Patella Syndrome 55
1794 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 55
1795 HDR002 Hidradenitis Suppurativa 54
1796 CHR288 Chronic Recurrent Multifocal Osteomyelitis 54
1797 P FML052 Familial Cold Autoinflammatory Syndrome 53
1798 c BNG091 Benign Chronic Pemphigus 52
1799 P ERY008 Erythromelalgia 52
1800 YLL001 Yellow Nail Syndrome 52
1801 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1802 P SHR029 Short Syndrome 51
1803 SPH001 Sapho Syndrome 51
1804 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50
1805 LGS001 Legius Syndrome 50
1806 c NNN010 Noonan Syndrome 3 49
1807 DYS022 Dyschromatosis Symmetrica Hereditaria 49
1808 P PRM001 Primary Cutaneous Amyloidosis 48
1809 SND002 Sneddon Syndrome 48
1810 KMR001 Kimura Disease 48
1811 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47
1812 NNN026 Noonan Syndrome with Multiple Lentigines 46
1813 CHR105 Choreoacanthocytosis 46
1814 VCS001 Vici Syndrome 46
1815 FML091 Familial Tumoral Calcinosis 46
1816 MYP001 Myoepithelioma 46
1817 LYM052 Lymphomatoid Papulosis 44
1818 KDS001 Kid Syndrome 43
1819 NRF008 Neurofibromatosis-Noonan Syndrome 43
1820 c HRM017 Hermansky-Pudlak Syndrome 2 43
1821 c SHR030 Short Qt Syndrome 43
1822 ADP001 Adiposis Dolorosa 42
1823 SBC011 Sebaceous Adenocarcinoma 42
1824 NRL002 Neurilemmomatosis 42
1825 P BLP047 Blepharocheilodontic Syndrome 1 42
1826 SWT002 Sweat Gland Cancer 41
1827 HYL004 Hyaline Fibromatosis Syndrome 40
1828 P WLL010 Woolly Hair Syndrome 39
1829 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 39
1830 LPM010 Lipomatosis, Multiple Symmetric 39
1831 TRC077 Trichomegaly 39
1832 MLN073 Melanosis, Neurocutaneous 38
1833 LVD002 Livedoid Vasculopathy 37
1834 GPS001 Gapo Syndrome 36
1835 GTT002 Guttate Psoriasis 36
1836 P PHS005 Peho Syndrome 35
1837 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1838 c NNN012 Noonan Syndrome 5 34
1839 CHL073 Cholestasis-Lymphedema Syndrome 34
1840 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1841 c FML294 Familial Short Qt Syndrome 33
1842 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 33
1843 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 33
1844 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
1845 DFN007 Deafness Enamel Hypoplasia Nail Defects 32
1846 ACR025 Acrocephalopolydactylous Dysplasia 32
1847 c NNN011 Noonan Syndrome 4 32
1848 STY001 Satoyoshi Syndrome 31
1849 GCH018 Gaucher Disease, Perinatal Lethal 31
1850 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 31
1851 PHC006 Phacomatosis Pigmentovascularis 31
1852 P MLT048 Multiple Familial Trichoepithelioma 30
1853 APC005 Apocrine Sweat Gland Neoplasm 28
1854 P ALB003 Albinism-Deafness Syndrome 28
1855 c FML253 Familial Cold Autoinflammatory Syndrome 3 28
1856 c NNN021 Noonan Syndrome 8 28
1857 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1858 c NNN024 Noonan Syndrome 9 27
1859 c NNN025 Noonan Syndrome 10 26
1860 c NNN013 Noonan Syndrome 6 26
1861 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
1862 c NNN009 Noonan Syndrome 2 26
1863 NST002 Nestor-Guillermo Progeria Syndrome 25
1864 ARD001 Aredyld 25
1865 ADN077 Adenosine Deaminase 2 Deficiency 25
1866 CHL075 Cheilitis Glandularis 24
1867 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 24
1868 JNT001 Joint Laxity, Familial 24
1869 ACR034 Acrogeria, Gottron Type 23
1870 c NNN020 Noonan Syndrome 7 23
1871 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
1872 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 23
1873 CTN025 Cutaneous Collagenous Vasculopathy 22
1874 c SHR032 Short Qt Syndrome 2 22
1875 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
1876 c TRC095 Trichoepithelioma, Multiple Familial, 1 21
1877 DRM023 Dermoodontodysplasia 21
1878 c CRD167 Cardiofaciocutaneous Syndrome 4 21
1879 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 21
1880 c CRD164 Cardiofaciocutaneous Syndrome 3 21
1881 CLL041 Collagenoma, Familial Cutaneous 21
1882 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
1883 c CRD163 Cardiofaciocutaneous Syndrome 2 20
1884 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 20
1885 c SHR031 Short Qt Syndrome 1 20
1886 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 20
1887 STT008 Steatocystoma Multiplex with Natal Teeth 20
1888 c SHR033 Short Qt Syndrome 3 20
1889 CLL039 Collagenosis, Familial Reactive Perforating 19
1890 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1891 CRN075 Crandall Syndrome 18
1892 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
1893 MLN018 Moloney Syndrome 18
1894 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
1895 FLT007 Flotch Syndrome 17
1896 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
1897 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 17
1898 GST056 Gastrocutaneous Syndrome 17
1899 c WLL035 Woolly Hair, Autosomal Recessive 3 17
1900 CHM001 Cahmr Syndrome 17
1901 ZNC006 Zinc, Elevated Plasma 17
1902 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
1903 c WLL018 Woolly Hair, Autosomal Dominant 16
1904 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1905 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
1906 ANG063 Angiolipomatosis, Familial 16
1907 c BLP049 Blepharocheilodontic Syndrome 2 16
1908 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1909 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1910 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
1911 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 15
1912 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1913 c DFN345 Deafness, Congenital, with Total Albinism 12
1914 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 11
1915 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 11
1916 MLT051 Multiple Fibrofolliculoma Familial 6
1917 c SCN010 Scn9a-Related Inherited Erythromelalgia 5
1918 ESP021 Esophageal Cancer 77
1919 ADN011 Adenoid Cystic Carcinoma 65
1920 P WSK001 Wiskott-Aldrich Syndrome 77
1921 P PRP003 Porphyria Cutanea Tarda 66
1922 BSL036 Basal Cell Nevus Syndrome 65
1923 c ADL017 Adult T-Cell Leukemia 62
1924 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
1925 c LPD015 Lipodystrophy, Familial Partial, Type 2 59
1926 MRT001 Muir-Torre Syndrome 58
1927 MRK001 Merkel Cell Carcinoma 58
1928 OSS012 Osseous Heteroplasia, Progressive 56
1929 PSD014 Pseudopseudohypoparathyroidism 55
1930 c HMN021 Human T-Cell Leukemia Virus Type 1 52
1931 RSD004 Rosai-Dorfman Disease 52
1932 c ACT020 Acute T Cell Leukemia 52
1933 P SJG002 Sjogren-Larsson Syndrome 51
1934 c WRD033 Waardenburg Syndrome, Type 2e 51
1935 P TCL004 T-Cell Leukemia 50
1936 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
1937 JHN001 Johanson-Blizzard Syndrome 47
1938 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
1939 P WHT013 White Sponge Nevus 1 45
1940 TTZ003 Tietz Albinism-Deafness Syndrome 44
1941 MRS002 Marshall Syndrome 44
1942 DBW001 Dubowitz Syndrome 43
1943 c HMN022 Human T-Cell Leukemia Virus Type 2 42
1944 APC004 Apocrine Adenocarcinoma 37
1945 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 37
1946 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1947 c LKM004 Leukemia, B-Cell, Chronic 36
1948 KHL003 Kohlschutter-Tonz Syndrome 35
1949 BJR001 Bjornstad Syndrome 32
1950 OLV004 Oliver-Mcfarlane Syndrome 32
1951 TMP011 Temple-Baraitser Syndrome 32
1952 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
1953 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
1954 CFL005 Cafe-Au-Lait Spots, Multiple 30
1955 JHN004 Johnson Neuroectodermal Syndrome 30
1956 LYM094 Lymphedema, Primary, with Myelodysplasia 29
1957 c WSK002 Wiskott-Aldrich Syndrome 2 27
1958 CMP075 Campomelia, Cumming Type 27
1959 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
1960 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
1961 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1962 c LKM005 Leukemia, T-Cell, Chronic 26
1963 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 25
1964 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
1965 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1966 SCR025 Scarf Syndrome 24
1967 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1968 P ALP068 Alopecia-Intellectual Disability Syndrome 22
1969 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 22
1970 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
1971 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
1972 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 17
1973 c WHT015 White Sponge Nevus 2 16
1974 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
1975 c ALP081 Alopecia Intellectual Disability Syndrome 2 7
1976 c HMN023 Human T-Cell Leukemia Virus Type 3 7
1977 c SJG003 Sjogren-Larsson-Like Syndrome 6
1978 MCK007 Muckle-Wells Syndrome 64
1979 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56
1980 RVS001 Revesz Syndrome 40
1981 WYB001 Wyburn Mason's Syndrome 27
1982 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
1983 VND003 Van Den Bosch Syndrome 14
1984 P FML011 Familial Adenomatous Polyposis 71
1985 c FML346 Familial Adenomatous Polyposis 1 62
1986 c FML299 Familial Adenomatous Polyposis 3 24
1987 c FML347 Familial Adenomatous Polyposis 2 22
1988 c FML339 Familial Adenomatous Polyposis 4 21



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