Skin Diseases Category (2310 diseases)


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

# Family MCID Name MIFTS
1 PLM102 Palmoplantar Keratoderma, Epidermolytic 49
2 EPD002 Epidermolytic Hyperkeratosis 56
3 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 47
4 c ATS013 Autosomal Recessive Congenital Ichthyosis 63
5 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56
6 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 49
7 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 47
8 P XRD010 Xeroderma Pigmentosum, Variant Type 72
9 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 29
10 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 50
11 SKN019 Skin Melanoma 63
12 P PLN008 Peeling Skin Syndrome 44
13 DYS002 Dysplastic Nevus Syndrome 36
14 c PLN018 Peeling Skin Syndrome 2 36
15 c XRD023 Xeroderma Pigmentosum, Complementation Group G 52
16 ADR038 Adermatoglyphia 47
17 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 23
18 P MLN066 Melanoma, Cutaneous Malignant 1 66
19 P EPD009 Epidermolysis Bullosa Dystrophica 58
20 FCL009 Focal Dermal Hypoplasia 56
21 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 48
22 DRM014 Dermatofibrosarcoma Protuberans 64
23 P DRM010 Dermatomyositis 66
24 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 54
25 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 41
26 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 33
27 ACR014 Acral Lentiginous Melanoma 51
28 P JNC001 Junctional Epidermolysis Bullosa 49
29 NVS017 Nevus, Epidermal 68
30 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
31 KND001 Kindler Syndrome 55
32 P DRM053 Dermatitis, Atopic 71
33 c XRD031 Xeroderma Pigmentosum, Complementation Group F 54
34 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 43
35 c PLN017 Peeling Skin Syndrome 1 32
36 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 46
37 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 28
38 INF057 Inflammatory Linear Verrucous Epidermal Nevus 26
39 P XRD029 Xeroderma Pigmentosum, Complementation Group a 52
40 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 44
41 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 22
42 c XRD030 Xeroderma Pigmentosum, Complementation Group C 52
43 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 26
44 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 23
45 PLM135 Palmoplantar Keratoderma, Bothnian Type 35
46 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 33
47 KRT022 Keratoderma Palmoplantar Spastic Paralysis 10
48 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 52
49 DGS008 Digestive System Melanoma 12
50 MLN008 Melanoma 63
51 ATR054 Atrophoderma Vermiculata 30
52 PGM028 Pigmented Purpuric Dermatosis 23
53 PRM139 Primary Melanoma of the Central Nervous System 13
54 CHL028 Childhood Type Dermatomyositis 59
55 EPD029 Epidermolysis Bullosa Simplex, Generalized 42
56 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 39
57 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 16
58 SKN016 Skin Disease 64
59 RTH001 Rothmund-Thomson Syndrome 60
60 P XRD022 Xeroderma Pigmentosum, Complementation Group D 54
61 P FCL023 Focal Facial Dermal Dysplasia 25
62 UNN001 Unna-Thost Palmoplantar Keratoderma 13
63 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 11
64 P SYS005 Systemic Scleroderma 69
65 c LCL006 Localized Scleroderma 63
66 P DRM007 Dermatitis Herpetiformis 54
67 c XRD021 Xeroderma Pigmentosum, Complementation Group E 44
68 CTN004 Cutaneous Fibrous Histiocytoma 41
69 NTR042 Neutrophilic Dermatosis, Acute Febrile 36
70 c MLN043 Melanoma, Cutaneous Malignant 8 34
71 SVR097 Severe Cutaneous Adverse Reaction 72
72 LPD014 Lipodermatosclerosis 43
73 PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 26
74 c PLN021 Peeling Skin Syndrome 3 23
75 ERY049 Erythroderma, Lethal Congenital 18
76 c EPD030 Epidermolysis Bullosa Simplex, Localized 46
77 c DRM054 Dermatitis, Atopic, 2 38
78 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
79 CRN070 Corneodermatoosseous Syndrome 22
80 PLM029 Palmoplantar Keratosis 46
81 P VHW001 Vohwinkel Syndrome 41
82 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 34
83 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 17
84 P KRT018 Keratosis Palmoplantaris Striata Iii 16
85 KRT023 Keratoderma Palmoplantaris Transgrediens 11
86 ERY019 Erythroderma Desquamativa of Leiner 7
87 CNT047 Contact Dermatitis 63
88 SBC012 Subcorneal Pustular Dermatosis 50
89 EPD025 Epidermolysis Bullosa with Pyloric Atresia 30
90 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 27
91 DRM042 Dermatoosteolysis, Kirghizian Type 19
92 P ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 15
93 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 14
94 P MLN069 Melanoma, Uveal 61
95 EPD001 Epidermodysplasia Verruciformis 51
96 c XRD032 Xeroderma Pigmentosum, Complementation Group B 45
97 c SBR001 Seborrheic Infantile Dermatitis 40
98 DGS002 Degos 'en Cocarde' Erythrokeratoderma 36
99 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 29
100 LNR005 Linear Scleroderma 24
101 ATR020 Atrophoderma of Pierini and Pasini 11
102 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
103 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 38
104 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 36
105 c KRT017 Keratosis Palmoplantaris Striata Ii 18
106 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 17
107 c XRD009 Xeroderma Pigmentosum, Type 9 9
108 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 35
109 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 26
110 LMT001 Limited Scleroderma 51
111 ECZ002 Eczema Herpeticum 49
112 IRR003 Irritant Dermatitis 46
113 P INT080 Intraocular Melanoma 45
114 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 34
115 MLN070 Melanoma-Astrocytoma Syndrome 32
116 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 29
117 c MLN067 Melanoma, Cutaneous Malignant 2 20
118 c MLN075 Melanoma, Cutaneous Malignant 3 20
119 c DRM055 Dermatitis, Atopic, 3 20
120 PRN056 Parana Hard-Skin Syndrome 18
121 c MLN077 Melanoma, Cutaneous Malignant 9 18
122 c MLN076 Melanoma, Cutaneous Malignant 5 16
123 c MLN042 Melanoma, Cutaneous Malignant 6 15
124 P SKN013 Skin Benign Neoplasm 51
125 RTT001 Ritter's Disease 45
126 CLD014 Cole Disease 37
127 TRN029 Transient Bullous Dermolysis of the Newborn 29
128 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
129 c PRM047 Primary Malignant Melanoma of the Cervix 12
130 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 12
131 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11
132 P EPD003 Epidermolysis Bullosa Simplex 53
133 STF002 Stiff Skin Syndrome 52
134 SKN005 Skin Atrophy 43
135 MLG005 Malignant Spindle Cell Melanoma 42
136 AML001 Amelanotic Melanoma 41
137 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 38
138 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
139 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 19
140 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 14
141 GNR027 Generalized Peeling Skin Syndrome 11
142 DRM006 Dermatitis 68
143 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 44
144 P SBR004 Seborrheic Dermatitis 42
145 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 28
146 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 28
147 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 21
148 c DRM060 Dermatitis, Atopic, 8 13
149 c PST022 Posterior Uveal Melanoma 45
150 WRN004 Wrinkly Skin Syndrome 35
151 TXC003 Toxicodendron Dermatitis 31
152 DRM021 Dermatopathia Pigmentosa Reticularis 28
153 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 16
154 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 15
155 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 14
156 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 9
157 ADL002 Adult Syndrome 49
158 LNT002 Lentigo Maligna Melanoma 38
159 PLM137 Palmoplantar Keratoderma and Woolly Hair 35
160 CRC001 Cercarial Dermatitis 34
161 GRN032 Granulomatous Slack Skin Disease 29
162 c VHW003 Vohwinkel Syndrome, Variant Form 29
163 SKN024 Skin Fragility-Woolly Hair Syndrome 24
164 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 24
165 c FCL046 Focal Facial Dermal Dysplasia 4 23
166 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 21
167 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 20
168 SPR033 Superficial Spreading Melanoma 16
169 c MLN074 Melanoma, Cutaneous Malignant 4 15
170 RYN003 Reynolds Syndrome 47
171 TNN002 Tinea Unguium 47
172 SKN027 Skin Conditions 46
173 SKN022 Skin Squamous Cell Carcinoma 46
174 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 43
175 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 43
176 EPD022 Epidermolysis Bullosa Pruriginosa 40
177 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 38
178 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 38
179 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 37
180 XRD027 Xeroderma Pigmentosum Group E 33
181 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 33
182 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 24
183 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 24
184 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 21
185 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 21
186 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 21
187 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 21
188 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 20
189 c DRM057 Dermatitis, Atopic, 5 17
190 c DRM058 Dermatitis, Atopic, 6 16
191 c DRM059 Dermatitis, Atopic, 7 13
192 c DRM061 Dermatitis, Atopic, 9 13
193 c DRM056 Dermatitis, Atopic, 4 13
194 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 8
195 PYD001 Pyoderma Gangrenosum 57
196 MLG142 Malignant Conjunctival Melanoma 42
197 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 39
198 SKN018 Skin Hemangioma 36
199 ACR005 Acrodermatitis 36
200 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 35
201 NDL001 Nodular Malignant Melanoma 35
202 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 35
203 DRM008 Dermatographia 33
204 NRT002 Neurotic Excoriation 32
205 EPD082 Epidermolytic Nevus 24
206 ATM026 Autoimmune Progesterone Dermatitis 22
207 BSN001 Basan Syndrome 22
208 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 18
209 TRC111 Trichodysplasia-Xeroderma 18
210 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 17
211 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 16
212 FCL036 Focal Palmoplantar and Gingival Keratoderma 15
213 RDS002 Red Skin Pigment Anomaly of New Guinea 11
214 EPD010 Epidermal Appendage Tumor 10
215 MLG052 Malignant Cornea Melanoma 9
216 SKN004 Skin Amelanotic Melanoma 6
217 MLN065 Melanocytic Nevus Syndrome, Congenital 54
218 BLS002 Blastomycosis 45
219 OCL022 Ocular Melanoma 40
220 TNC003 Tinea Corporis 40
221 SKN023 Skin Tag 39
222 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32
223 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
224 PHT004 Photoallergic Dermatitis 27
225 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21
226 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 19
227 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 18
228 c MLN055 Melanoma, Cutaneous Malignant 10 17
229 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 15
230 c MLN040 Melanoma, Cutaneous Malignant 7 14
231 KRT062 Keratoderma with Woolly Hair 10
232 c SCL052 Scleroderma, Familial Progressive 68
233 EPD016 Epidermolysis Bullosa 57
234 DRM011 Dermatophytosis 45
235 BLL007 Bullous Skin Disease 36
236 ACR097 Acrodermatitis Chronica Atrophicans 32
237 DRM009 Dermatomycosis 29
238 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 25
239 HRZ001 Huriez Syndrome 24
240 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 20
241 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
242 SKN001 Skin Angiosarcoma 15
243 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 14
244 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 7
245 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
246 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 6
247 DFF003 Diffuse Scleroderma 41
248 P PHT010 Photoparoxysmal Response 1 40
249 c ADL027 Adult Dermatomyositis 39
250 MLG007 Malignant Skin Fibrous Histiocytoma 35
251 TNC001 Tinea Cruris 33
252 PHT003 Phototoxic Dermatitis 32
253 ODN009 Odontoonychodermal Dysplasia 28
254 MLG070 Malignant Iris Melanoma 28
255 SKN020 Skin Papilloma 26
256 MNN010 Meningeal Melanoma 26
257 OCC001 Occupational Dermatitis 25
258 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 25
259 MLG038 Malignant Anus Melanoma 24
260 LTN013 Late-Onset Focal Dermal Elastosis 22
261 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 22
262 MLG062 Malignant Ciliary Body Melanoma 21
263 PLM104 Palmoplantar Keratoderma, Nagashima Type 19
264 MLG061 Malignant Choroid Melanoma 19
265 INF127 Infective Dermatitis Associated with Htlv-1 19
266 SCL001 Scalp Dermatosis 17
267 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 16
268 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
269 MLG008 Malignant Breast Melanoma 15
270 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 15
271 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 14
272 ACQ008 Acquired Hyperkeratosis 14
273 P SKN009 Skin Granular Cell Tumor 14
274 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 14
275 DYS044 Dysmorphism Cleft Palate Loose Skin 13
276 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 13
277 ESP016 Esophagus Melanoma 12
278 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
279 RCT003 Rectum Malignant Melanoma 10
280 c PHT009 Photoparoxysmal Response 2 9
281 c PHT011 Photoparoxysmal Response 3 9
282 CHR448 Choroid Mixed Cell Melanoma 9
283 MXD040 Mixed Cell Uveal Melanoma 9
284 BSL002 Basaloid Squamous Cell Skin Carcinoma 9
285 RTN010 Retinal Melanoma 9
286 c PLN027 Peeling Skin Syndrome Type C 9
287 MLN071 Melanoma Tumor Antigen Gp90 8
288 c MLG050 Malignant Granular Cell Skin Tumor 8
289 SKN008 Skin Glomus Tumor 8
290 BNG008 Benign Dermal Neurilemmoma 7
291 PLM046 Palmoplantar Keratoderma of Sybert 6
292 KZN001 Kuzniecky Andermann Syndrome 5
293 SKN026 Skin Cancer, Non Melanoma, Childhood 3
294 EPD070 Epidermoid Cysts 43
295 TNP001 Tinea Pedis 41
296 TNC002 Tinea Capitis 40
297 CHR463 Chronic Actinic Dermatitis 35
298 EXF003 Exfoliative Dermatitis 28
299 MLN046 Melanoma-Associated Retinopathy 26
300 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 24
301 KSK002 Kosaki Overgrowth Syndrome 23
302 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
303 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
304 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21
305 RMB001 Rombo Syndrome 19
306 HRD113 Hereditary Acrokeratotic Poikiloderma, Weary Type 19
307 IMM145 Immunodeficiency 11b with Atopic Dermatitis 18
308 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 18
309 ELS003 Elastoderma 18
310 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 16
311 CNG265 Congenital Erosive and Vesicular Dermatosis 15
312 PKL003 Poikiloderma, Hereditary Sclerosing 14
313 DFF018 Diffuse Dermal Angiomatosis 13
314 c DWL002 Dowling-Degos Disease 1 56
315 CHR100 Chronic Ulcer of Skin 53
316 PYD002 Pyoderma 52
317 MCS006 Macs Syndrome 52
318 P PTY003 Pityriasis Rubra Pilaris 50
319 NCK004 Nickel Allergic Contact Dermatitis 38
320 PLL016 Palladium Allergic Contact Dermatitis 28
321 SKN002 Skin Lipoma 27
322 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
323 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 22
324 HYP346 Hypotrichosis and Recurrent Skin Vesicles 19
325 PRC021 Parc Syndrome 18
326 c PLN025 Peeling Skin Syndrome 5 17
327 DPD001 Deep Dermatophytosis 17
328 JSS002 Jessner Lymphocytic Infiltration of the Skin 14
329 CLR002 Ciliary Body Spindle Cell Melanoma 9
330 CHR011 Choroid Spindle Cell Melanoma 9
331 CBL009 Cobalt Allergic Contact Dermatitis 9
332 DRM002 Dermoid Cyst of Skin 8
333 FRM010 Formaldehyde Allergic Contact Dermatitis 6
334 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 6
335 BNZ004 Benzoic Acid Allergic Contact Dermatitis 6
336 KTP001 Ketoprofen Photoallergic Dermatitis 6
337 CRV076 Carvone Allergic Contact Dermatitis 6
338 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 6
339 PRT137 Parthenolide Allergic Contact Dermatitis 6
340 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 6
341 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5
342 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
343 KWS001 Kwashiorkor 45
344 ANG016 Angiokeratoma 41
345 MNN008 Meningeal Melanomatosis 40
346 MLN013 Melanoma Metastasis 40
347 VLV020 Vulvar Melanoma 40
348 c DRM040 Dermatitis Herpetiformis, Familial 39
349 ACN003 Acneiform Dermatitis 36
350 CTN001 Cutaneous Solitary Mastocytoma 35
351 WND001 Wound Botulism 34
352 VSC012 Vesiculobullous Skin Disease 32
353 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 31
354 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29
355 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 29
356 SKN010 Skin Epithelioid Hemangioma 28
357 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 26
358 TNM002 Tinea Manuum 26
359 EPT001 Epithelioid Cell Melanoma 26
360 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26
361 ERS002 Erosive Pustular Dermatosis of the Scalp 25
362 c PLN024 Peeling Skin Syndrome 4 24
363 SPN047 Spindle Cell Intraocular Melanoma 24
364 ORB015 Orbital Melanoma 23
365 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 23
366 FCL001 Facial Dermatosis 23
367 JNC002 Junctional Epidermolysis Bullosa Inversa 22
368 GRW032 Growth Factors, Combined Defect of 22
369 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22
370 TNB001 Tinea Barbae 22
371 HND001 Hand Dermatosis 21
372 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
373 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 20
374 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 18
375 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
376 GLL012 Gallbladder Melanoma 18
377 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
378 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 18
379 P PRM145 Primary Anetoderma 18
380 TNP002 Tinea Profunda 17
381 SPN025 Spinal Cord Melanoma 16
382 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 16
383 DRM019 Dermatoleukodystrophy 16
384 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
385 c FML205 Familial Anetoderma 15
386 DFF028 Diffuse Leptomeningeal Melanocytosis 15
387 VSC009 Vascular Skin Disease 14
388 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 13
389 c MLN039 Melanoma, Uveal 1 13
390 LGD001 Leg Dermatosis 13
391 c MLN041 Melanoma, Uveal 2 12
392 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 12
393 ADM002 Adamantinoid Basal Cell Epithelioma 12
394 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
395 CND003 Candidal Paronychia 11
396 MLG010 Malignant Eyelid Melanoma 10
397 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 10
398 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 10
399 SKN017 Skin Glomangioma 10
400 ERY005 Erythematosquamous Dermatosis 10
401 ACN008 Acantholytic Squamous Cell Skin Carcinoma 10
402 CHR045 Choroid Necrotic Melanoma 9
403 MGR041 Megarbane-Jalkh Syndrome 9
404 PDT007 Pediatric Leptomeningeal Melanoma 8
405 ADL009 Adult Leptomeningeal Melanoma 8
406 ISL103 Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 8
407 ECC006 Eccrine Mixed Tumor of Skin 8
408 NNN006 Noninfectious Dermatoses of Eyelid 8
409 ALL005 Allergic Contact Dermatitis of Eyelid 8
410 UVL002 Uveal Epithelioid Cell Melanoma 7
411 CHR014 Choroid Epithelioid Cell Melanoma 7
412 PRN012 Perianal Skin Paget's Disease 7
413 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 6
414 CLR010 Clear Cell Squamous Cell Skin Carcinoma 6
415 SCR012 Scrotum Melanoma 6
416 SKN007 Skin Meningioma 6
417 SQM001 Squamous Cell Papilloma of Skin 6
418 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
419 c XRD005 Xeroderma Pigmentosum, Type 2 6
420 PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 6
421 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 5
422 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 4
423 PNC058 Punctate Acrokeratoderma Freckle Like Pigmentation 3
424 MSM009 Mesomelic Dysplasia Skin Dimples 3
425 TRC043 Tricho Odonto Onycho Dermal Syndrome 3
426 XRD011 Xeroderma Talipes Enamel Defects 3
427 CDK001 Cdk4 Linked Melanoma 3
428 DRM018 Dermatocardioskeletal Syndrome Boronne Type 3
429 MLG096 Malignant Melanoma, Childhood 3
430 PRM048 Primary Malignant Melanoma of the Conjunctiva 3
431 P PSR002 Psoriasis 66
432 MCS004 Mucosal Melanoma 49
433 c PSR023 Psoriasis 1 47
434 MLT016 Multicentric Reticulohistiocytosis 46
435 IMP004 Impetigo 46
436 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
437 ACT167 Acute Generalized Exanthematous Pustulosis 41
438 RTC008 Reticulate Acropigmentation of Kitamura 41
439 DRM003 Dermatosis Papulosa Nigra 39
440 NRD001 Neurodermatitis 37
441 CHN002 Chancroid 37
442 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 36
443 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
444 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
445 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
446 CNT001 Contagious Pustular Dermatitis 31
447 c CRB100 Cerebrooculofacioskeletal Syndrome 4 29
448 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
449 c CRB099 Cerebrooculofacioskeletal Syndrome 3 28
450 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
451 c BRT028 Brittle Cornea Syndrome 1 25
452 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 24
453 VRR003 Verruciform Xanthoma of Skin 22
454 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 22
455 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 19
456 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
457 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 18
458 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 17
459 CNN005 Connective Tissue Disease 64
460 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 63
461 RSC001 Rosacea 60
462 CLL003 Cellulitis 59
463 SCB001 Scabies 51
464 SQM002 Squamous Cell Papilloma 46
465 PST053 Postherpetic Neuralgia 45
466 DCB001 Decubitus Ulcer 45
467 P PLY147 Polydactyly, Postaxial, Type A1 43
468 c PCH012 Pachyonychia Congenita 2 38
469 c PCH010 Pachyonychia Congenita 3 35
470 ACN010 Acanthoma 34
471 ECC002 Eccrine Acrospiroma 34
472 LBM003 Lobomycosis 34
473 P ANG013 Angioma Serpiginosum 31
474 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 28
475 PRM206 Premature Aging Syndrome, Penttinen Type 27
476 c PCH011 Pachyonychia Congenita 4 27
477 ATM016 Autoimmune Disease of Skin and Connective Tissue 25
478 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 25
479 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23
480 PPL052 Papillomatosis, Confluent and Reticulated 22
481 EPD004 Epidermolytic Acanthoma 21
482 EHL015 Ehlers-Danlos Syndrome Progeroid Type 20
483 SNL003 Senile Angioma 20
484 CMP060 Complement Component 9 Deficiency 19
485 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 19
486 CLL040 Callosities, Hereditary Painful 18
487 c PLY103 Polydactyly, Postaxial, Type A5 18
488 c PLY163 Polydactyly, Postaxial, Type A2 18
489 c DWL003 Dowling-Degos Disease 2 17
490 c PLN028 Peeling Skin Syndrome 6 17
491 c PLY101 Polydactyly, Postaxial, Type A6 16
492 LNR009 Linear Atrophoderma of Moulin 16
493 ECC003 Eccrine Papillary Adenoma 16
494 c PLY144 Polydactyly, Postaxial, Type A7 15
495 FCL040 Focal Acral Hyperkeratosis 15
496 c PLY054 Polydactyly, Postaxial, Type A4 13
497 c PLY053 Polydactyly, Postaxial, Type A3 12
498 c PLY178 Polydactyly, Postaxial, Type A8 10
499 TBR017 Tuberculin Skin Test Reactivity, Absence of 9
500 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 9
501 IRS001 Iris Spindle Cell Melanoma 8
502 DRM047 Dermatoglyphics--Arch on Any Digit 8
503 END012 Endometriosis in Scar of Skin 7
504 CHR679 Chromium Allergic Contact Dermatitis 6
505 PTS020 Potassium Dichromate Allergic Contact Dermatitis 5
506 PSR001 Psoriatic Arthritis 67
507 FBR047 Fibromyalgia 61
508 P EXN002 Exanthem 56
509 KRT009 Keratosis 54
510 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 52
511 P NLD001 Nail Disease 51
512 MLL001 Molluscum Contagiosum 51
513 PST011 Pustulosis of Palm and Sole 49
514 P OCL001 Ocular Albinism 49
515 CHC001 Chickenpox 47
516 PGM003 Pigmentation Disease 46
517 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
518 SKN006 Skin Sarcoidosis 43
519 c CRN243 Carney Complex, Type 1 43
520 SBC009 Sebaceous Adenoma 39
521 PTY002 Pityriasis Versicolor 37
522 GRN003 Granulomatous Dermatitis 37
523 OVR104 Ovarian Melanoma 37
524 CMP007 Complement Component 5 Deficiency 37
525 TNF001 Tinea Favosa 36
526 MLN002 Melanomatosis 36
527 c ALB024 Albinism, Ocular, Type I 35
528 CTN012 Cutaneous Leiomyosarcoma 35
529 MYX013 Myxofibrosarcoma 34
530 HDR001 Hidrocystoma 33
531 STR096 Striate Palmoplantar Keratoderma 32
532 SPR020 Superficial Mycosis 31
533 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
534 MDD015 Mid-Dermal Elastolysis 31
535 LMY001 Leiomyoma Cutis 30
536 KRT047 Keratosis Pilaris Atrophicans 29
537 YSY001 Yao Syndrome 28
538 c JVN011 Juvenile Dermatitis Herpetiformis 27
539 CTN010 Cutaneous Ganglioneuroma 27
540 BLL002 Balloon Cell Malignant Melanoma 24
541 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 22
542 P PNC113 Punctate Palmoplantar Keratoderma 22
543 SHH004 Shaheen Syndrome 21
544 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 21
545 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 21
546 NTL003 Notalgia Paresthetica 21
547 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
548 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 19
549 c VRL008 Viral Exanthem 19
550 RSS027 Russell-Silver Syndrome, X-Linked 19
551 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 19
552 SPN011 Spongiotic Dermatitis 19
553 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 19
554 c DMN009 Dominant Ichthyosis Vulgaris 18
555 AQG001 Aquagenic Pruritus 17
556 DRM046 Dermal Ridges-off-the-End 17
557 c CRN298 Carney Complex, Type 2 17
558 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 17
559 EPD052 Epidermolysis Bullosa Simplex Superficialis 17
560 KRT066 Keratosis, Focal Palmoplantar and Gingival 17
561 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 16
562 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 15
563 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 15
564 PTT039 Pituitary Dermoid and Epidermoid Cysts 14
565 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 14
566 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
567 LNR017 Linear Focal Elastosis 14
568 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 14
569 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 14
570 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 14
571 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 13
572 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
573 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 11
574 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
575 PSD110 Pseudoatrophoderma Colli 11
576 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 11
577 P CRV009 Cervix Melanoma 11
578 ACR075 Acral Dystrophic Epidermolysis Bullosa 10
579 NNT046 Neonatal Dermatomyositis 10
580 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
581 NCR008 Necrotic Uveal Melanoma 10
582 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
583 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 10
584 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
585 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 9
586 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 9
587 c MLN068 Melanoma, Malignant Familial Intraocular 9
588 DRM049 Dermatoglyphics--Fingerprint Pattern 8
589 DRM044 Dermal Ridges, Nelson Syndrome 8
590 CTN008 Cutaneous Liposarcoma 8
591 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 8
592 DRM045 Dermal Ridges, Patternless 8
593 HST020 Histiocytic Dermatoarthritis 7
594 DRM052 Dermatoglyphics--Hypothenar Radial Arch 7
595 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 7
596 NNT043 Neonatal Scleroderma 7
597 XRD002 Xeroderma of Eyelid 7
598 ECZ001 Eczematous Dermatitis of Eyelid 7
599 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
600 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
601 CLR008 Ciliary Body Mixed Cell Melanoma 6
602 IRS002 Iris Mixed Cell Melanoma 6
603 c LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 6
604 PRT089 Partial Deep Dermal and Full Thickness Burns 6
605 NVD002 Nevada Syndrome 6
606 PLN004 Plantar Verrucous Skin Carcinoma 6
607 c BCT003 Bacterial Exanthem 5
608 DRM048 Dermatoglyphics--Finger Ridge Count 4
609 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 4
610 MLG109 Malignant Melanoma of the Mucosa 4
611 c SYS001 Systemic Lupus Erythematosus 88
612 P ATX030 Ataxia-Telangiectasia 84
613 P FNC027 Fanconi Anemia, Complementation Group a 82
614 P NNN008 Noonan Syndrome 1 79
615 P NRF023 Neurofibromatosis, Type Ii 75
616 BHC003 Behcet Syndrome 73
617 FBR012 Fabry Disease 72
618 P LPR021 Leprosy 3 70
619 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 70
620 P LPS004 Lupus Erythematosus 69
621 P PSD087 Pseudoxanthoma Elasticum 68
622 GRN037 Granulomatosis with Polyangiitis 68
623 P DYS007 Dyskeratosis Congenita 68
624 c TBR026 Tuberous Sclerosis 2 67
625 INC021 Incontinentia Pigmenti 67
626 CTN007 Cutaneous Leishmaniasis 67
627 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
628 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 66
629 CST001 Costello Syndrome 66
630 P CRD224 Cardiofaciocutaneous Syndrome 1 66
631 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
632 P CCK001 Cockayne Syndrome 65
633 c MCP050 Mucopolysaccharidosis, Type Ii 64
634 c FML346 Familial Adenomatous Polyposis 1 64
635 c ADL017 Adult T-Cell Leukemia 63
636 RFS006 Refsum Disease, Classic 62
637 CRB011 Cerebrotendinous Xanthomatosis 62
638 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 62
639 c HRD002 Hereditary Angioedema 62
640 c MCP049 Mucopolysaccharidosis, Type Vii 62
641 DRR014 Darier-White Disease 61
642 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
643 URT039 Urticaria 61
644 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
645 ERD001 Erdheim-Chester Disease 60
646 c PRT132 Protoporphyria, Erythropoietic, 1 60
647 P OCL013 Oculodentodigital Dysplasia 60
648 c NNN010 Noonan Syndrome 3 59
649 NTH001 Netherton Syndrome 59
650 STR039 Sturge-Weber Syndrome 59
651 LCR014 Lacrimoauriculodentodigital Syndrome 59
652 P CRN108 Cranioectodermal Dysplasia 1 59
653 GRN051 Granulomatous Disease, Chronic, X-Linked 58
654 P LCH002 Lichen Planus 58
655 P HLL001 Hallermann-Streiff Syndrome 58
656 P ANG015 Angioedema 57
657 PRP032 Porphyria Variegata 57
658 KLP010 Klippel-Trenaunay-Weber Syndrome 57
659 P AXN002 Axenfeld-Rieger Syndrome 56
660 P ICH004 Ichthyosis 56
661 HND002 Hand, Foot and Mouth Disease 56
662 CPR004 Coproporphyria, Hereditary 55
663 CHN055 Chanarin-Dorfman Syndrome 55
664 P INF049 Infantile Myofibromatosis 54
665 MLT135 Multiple Sulfatase Deficiency 54
666 c WRD033 Waardenburg Syndrome, Type 2e 54
667 P ACT008 Actinic Keratosis 54
668 P GRS003 Griscelli Syndrome 53
669 c CHL140 Chilblain Lupus 1 53
670 c PSR017 Psoriasis 2 52
671 NNT012 Neonatal Jaundice 52
672 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
673 RFL001 Reflex Sympathetic Dystrophy 52
674 PRP082 Porphyria, Congenital Erythropoietic 52
675 PRN014 Paronychia 52
676 LNT004 Lentigines 51
677 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 51
678 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
679 HNN001 Hennekam Syndrome 51
680 c CCK007 Cockayne Syndrome B 51
681 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
682 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
683 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
684 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
685 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
686 PHH001 Phaeohyphomycosis 49
687 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
688 RVS001 Revesz Syndrome 49
689 JHN001 Johanson-Blizzard Syndrome 49
690 c GRS014 Griscelli Syndrome, Type 2 49
691 P TYR004 Tyrosinemia 49
692 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
693 FRB001 Farber Lipogranulomatosis 49
694 HYP077 Hypertrichosis 49
695 c NNN012 Noonan Syndrome 5 48
696 c CNG012 Congenital Generalized Lipodystrophy 48
697 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
698 c ALB019 Albinism, Oculocutaneous, Type Iv 48
699 CRB016 Carbuncle 48
700 ANH002 Anhidrosis 48
701 c WRD020 Waardenburg Syndrome, Type 4a 48
702 DSC009 Discoid Lupus Erythematosus 48
703 ANL022 Anal Fistula 48
704 c ANG068 Angioedema, Hereditary, Type I 48
705 PRN049 Paraneoplastic Pemphigus 47
706 HYP457 Hypertrophic Scars 47
707 DRG013 Drug-Induced Lupus Erythematosus 47
708 P KRT005 Keratoacanthoma 47
709 SND002 Sneddon Syndrome 47
710 HDR003 Hidradenitis 47
711 FLL008 Folliculitis 47
712 HRT031 Hartnup Disorder 47
713 RST011 Restrictive Dermopathy, Lethal 47
714 VRL003 Variola Major 47
715 PNN001 Panniculitis 47
716 c WRD019 Waardenburg Syndrome, Type 4b 46
717 P NLX004 Neu-Laxova Syndrome 1 46
718 P HRD018 Hair Disease 46
719 c WRD031 Waardenburg Syndrome, Type 3 46
720 c PSR028 Psoriasis 7 46
721 P WHT013 White Sponge Nevus 1 46
722 c PSR032 Psoriasis 11 46
723 P LPM005 Lipomatosis 46
724 CSL001 Causalgia 46
725 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
726 c PSR018 Psoriasis 13 45
727 P DYS023 Dyschromatosis Universalis Hereditaria 45
728 FBR003 Fibrous Histiocytoma 45
729 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
730 c SYS043 Systemic Lupus Erythematosus 1 45
731 c FNC047 Fanconi Anemia, Complementation Group Q 44
732 c JVN003 Juvenile Xanthogranuloma 44
733 PKL001 Poikiloderma with Neutropenia 44
734 c INT059 Internal Hemorrhoid 44
735 EMY001 Eumycotic Mycetoma 44
736 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
737 c NNN009 Noonan Syndrome 2 44
738 c FNC058 Fanconi Anemia, Complementation Group R 44
739 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
740 c SHR030 Short Qt Syndrome 43
741 c TYR011 Tyrosinemia, Type Iii 43
742 P CLR001 Clear Cell Acanthoma 43
743 ILC002 Ileocolitis 42
744 c ALB015 Albinism, Oculocutaneous, Type V 42
745 c FNC056 Fanconi Anemia, Complementation Group V 42
746 BLL012 Bullous Impetigo 42
747 c FNC052 Fanconi Anemia, Complementation Group T 42
748 HYL004 Hyaline Fibromatosis Syndrome 42
749 PTY001 Pityriasis Rosea 42
750 c FNC025 Fanconi Anemia, Complementation Group J 41
751 c FNC029 Fanconi Anemia, Complementation Group I 41
752 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
753 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
754 AND014 Androgenic Alopecia 41
755 c FNC057 Fanconi Anemia, Complementation Group U 41
756 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
757 EPC005 Epicanthus 41
758 c ALB016 Albinism, Oculocutaneous, Type Vii 40
759 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
760 PSD016 Pseudosarcomatous Fibromatosis 40
761 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
762 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 40
763 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
764 c NNN011 Noonan Syndrome 4 40
765 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
766 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
767 c NNN013 Noonan Syndrome 6 39
768 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
769 SCL017 Sclerosing Hemangioma 39
770 FXD003 Fixed Drug Eruption 38
771 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
772 c FNC023 Fanconi Anemia, Complementation Group N 38
773 ECT004 Ecthyma 38
774 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
775 ATR013 Atrichia with Papular Lesions 38
776 c MCP051 Mucopolysaccharidosis, Type Ix 38
777 c FNC028 Fanconi Anemia, Complementation Group L 37
778 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
779 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
780 MND025 Mandibulofacial Dysostosis with Alopecia 37
781 c WRD024 Waardenburg Syndrome, Type 4c 37
782 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
783 SLT014 Salt and Pepper Developmental Regression Syndrome 37
784 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
785 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
786 APC003 Apocrine Adenoma 37
787 c SBC035 Subacute Cutaneous Lupus Erythematosus 36
788 c CNG188 Congenital Disorder of Glycosylation, Type if 36
789 c NNN021 Noonan Syndrome 8 36
790 c HMN027 Hemangioma, Capillary Infantile 36
791 ANG007 Angiokeratoma Circumscriptum 36
792 GPS001 Gapo Syndrome 36
793 HYP022 Hypohidrosis 36
794 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
795 c NNN024 Noonan Syndrome 9 36
796 CTN033 Cutaneous Candidiasis 36
797 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 35
798 KLD003 Keloid Formation 35
799 c CNG379 Congenital Disorder of Glycosylation, Type It 35
800 BRB006 Barber-Say Syndrome 35
801 PMP010 Pompholyx 35
802 NVS007 Nevus of Ota 35
803 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
804 TRM011 Terminal Osseous Dysplasia 35
805 c FNC048 Fanconi Anemia, Complementation Group O 35
806 PRK003 Parkes Weber Syndrome 35
807 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
808 ATN014 Autoinflammation with Arthritis and Dyskeratosis 35
809 FLL019 Follicular Mucinosis 34
810 c LPR022 Leprosy 2 34
811 LCH014 Lichen Amyloidosis 34
812 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
813 SCL002 Scleredema Adultorum 34
814 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
815 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
816 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
817 c GLP003 Geleophysic Dysplasia 1 33
818 c WLL036 Weill-Marchesani Syndrome 1 33
819 KNC002 Knuckle Pads 33
820 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
821 LCH016 Lichen Sclerosus Et Atrophicus 33
822 c PRP091 Porphyria Cutanea Tarda, Type I 33
823 INV005 Inverted Follicular Keratosis 33
824 OLV004 Oliver-Mcfarlane Syndrome 33
825 CTN011 Cutaneous Porphyria 33
826 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
827 ERY002 Erythema Infectiosum 33
828 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
829 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
830 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
831 MLR009 Miliaria 32
832 FLL042 Folliculotropic Mycosis Fungoides 32
833 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
834 c APL023 Aplasia Cutis Congenita, Nonsyndromic 32
835 PHY008 Physical Urticaria 32
836 SLR005 Solar Urticaria 31
837 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
838 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
839 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
840 c WLL037 Weill-Marchesani Syndrome 2 31
841 c NNN025 Noonan Syndrome 10 31
842 LCH003 Lichen Nitidus 31
843 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
844 CNR001 Coenurosis 31
845 MLR001 Miliaria Rubra 31
846 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
847 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
848 TKN001 Takenouchi-Kosaki Syndrome 31
849 c ACQ027 Acquired Cutis Laxa 31
850 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 31
851 c CRN109 Cranioectodermal Dysplasia 2 31
852 PMP009 Pemphigus Erythematosus 31
853 LCH004 Lichen Disease 30
854 c LRG002 Large Cell Acanthoma 30
855 IMP001 Impetigo Herpetiformis 30
856 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
857 c DYS139 Dyschromatosis Universalis Hereditaria 3 30
858 VRL002 Variola Minor 30
859 ACR004 Acrokeratosis Verruciformis 29
860 BNG069 Benign Cephalic Histiocytosis 29
861 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
862 MLR023 Melorheostosis, Isolated 29
863 NDL010 Nodular Hidradenoma 29
864 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
865 HRP002 Herpes Gestationis 29
866 FCL003 Facial Hemiatrophy 29
867 MLN005 Melanoacanthoma 29
868 PRP093 Pierpont Syndrome 29
869 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
870 CBB002 Cobb Syndrome 29
871 c NNN020 Noonan Syndrome 7 29
872 P ADL037 Adult Xanthogranuloma 28
873 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
874 CHL035 Cholinergic Urticaria 28
875 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
876 CRM002 Ceruminoma 28
877 P TRC031 Trichorhinophalangeal Syndrome 28
878 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
879 LRY022 Laryngoonychocutaneous Syndrome 28
880 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
881 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
882 c FNC062 Fanconi Anemia, Complementation Group S 28
883 SLF015 Self-Improving Collodion Baby 28
884 PMP008 Pemphigus Vegetans 28
885 ANG062 Angioosteohypertrophic Syndrome 27
886 CRT011 Carotenemia 27
887 KPP002 Keppen-Lubinsky Syndrome 27
888 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
889 PLN001 Plantar Wart 27
890 CLC064 Calcifying Aponeurotic Fibroma 27
891 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
892 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
893 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
894 c ANG045 Angioedema, Hereditary, Type Iii 27
895 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
896 ERY066 Erythema Multiforme Major 26
897 TLG001 Telogen Effluvium 26
898 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
899 c ALB017 Albinism, Oculocutaneous, Type Vi 26
900 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
901 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
902 c FRN033 Frontonasal Dysplasia 2 26
903 c AST056 Asthma-Related Traits 2 26
904 P AST055 Asthma-Related Traits 1 26
905 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 26
906 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
907 CLR013 Clear Cell Hidradenoma 26
908 c SPN418 Spinocerebellar Ataxia 44 25
909 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
910 SBC019 Subcutaneous Mycosis 25
911 c SYS069 Systemic Lupus Erythematosus 6 25
912 c WLL040 Weill-Marchesani Syndrome 4 25
913 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
914 c CWD008 Cowden Syndrome 6 25
915 c SPN259 Spinocerebellar Ataxia 32 25
916 PSD078 Pseudofolliculitis Barbae 25
917 c SPN421 Spinocerebellar Ataxia 47 25
918 c FRN032 Frontonasal Dysplasia 3 25
919 c HRM020 Hermansky-Pudlak Syndrome 10 25
920 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
921 c CWD004 Cowden Syndrome 5 24
922 PHK008 Phakomatosis Cesioflammea 24
923 ANG014 Angiokeratoma of Fordyce 24
924 ZNC004 Zinc Deficiency, Transient Neonatal 24
925 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
926 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
927 c SPN323 Spinocerebellar Ataxia 41 24
928 MCL047 Macular Amyloidosis 24
929 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
930 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 24
931 GNR023 Generalized Eruptive Histiocytosis 24
932 TNM001 Tinea Imbricata 24
933 c SYS038 Systemic Lupus Erythematosus 2 23
934 c SHR031 Short Qt Syndrome 1 23
935 DRM043 Dermochondrocorneal Dystrophy 23
936 c SHR032 Short Qt Syndrome 2 23
937 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
938 c WLL038 Weill-Marchesani Syndrome 3 23
939 c PLT022 Pili Torti, Early-Onset 23
940 c LSS009 Lissencephaly 3 23
941 HYP481 Hyperbiliverdinemia 23
942 c WRD022 Waardenburg Syndrome, Type 2d 23
943 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 23
944 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 23
945 FLY003 Flynn-Aird Syndrome 23
946 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
947 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
948 PRG077 Progressive Nodular Histiocytosis 23
949 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 23
950 c LPR023 Leprosy 1 22
951 TLN007 Telangiectasia, Hereditary Benign 22
952 c SPN419 Spinocerebellar Ataxia 45 22
953 c NLX003 Neu-Laxova Syndrome 2 22
954 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
955 c EHL065 Ehlers-Danlos Syndrome, Type V 22
956 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
957 EXF002 Exfoliative Ichthyosis 22
958 ADS001 Adiaspiromycosis 22
959 MNG001 Mongolian Spot 22
960 HRP026 Herpetiform Pemphigus 22
961 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
962 c CNG022 Congenital Granular Cell Tumor 22
963 c FNC061 Fanconi Anemia, Complementation Group W 22
964 P FML337 Familial Chilblain Lupus 22
965 c ALP039 Alopecia Areata 1 22
966 c ALP040 Alopecia Areata 2 21
967 DGT002 Digital Clubbing, Isolated Congenital 21
968 VLV039 Vulvar Seborrheic Keratosis 21
969 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
970 c SHR033 Short Qt Syndrome 3 21
971 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 21
972 CYT017 Cytophagic Histiocytic Panniculitis 21
973 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 21
974 c PRV016 Periventricular Nodular Heterotopia 6 21
975 c CWD009 Cowden Syndrome 7 21
976 BLL015 Bullous Lichen Planus 21
977 GRM003 German Syndrome 21
978 c CRD163 Cardiofaciocutaneous Syndrome 2 21
979 c BLP049 Blepharocheilodontic Syndrome 2 20
980 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 20
981 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 20
982 PMP013 Pemphigus Gestationis 20
983 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
984 OCL057 Oculotrichodysplasia 20
985 DFF009 Diffuse Lipomatosis 20
986 VLV046 Vulvovaginal Gingival Syndrome 20
987 BSD001 Basidiobolomycosis 20
988 LPS018 Lupus Erythematosus Panniculitis 20
989 GNR033 Generalized Eruptive Keratoacanthoma 20
990 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
991 TLN012 Telangiectasia Macularis Eruptiva Perstans 20
992 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 20
993 LDW001 Ludwig's Angina 20
994 c CWD005 Cowden Syndrome 4 20
995 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
996 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
997 c SYS046 Systemic Lupus Erythematosus 3 19
998 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
999 c LTY001 Late Yaws 19
1000 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 19
1001 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1002 HYP641 Hypotrichosis Simplex of the Scalp 19
1003 c CHL114 Chilblain Lupus 2 19
1004 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19
1005 CRN224 Craniofaciofrontodigital Syndrome 19
1006 CTN005 Cutaneous Diphtheria 19
1007 ERY010 Erythrasma 19
1008 HST018 Histiocytosis, Progressive Mucinous 18
1009 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1010 c UVS005 Uv-Sensitive Syndrome 1 18
1011 TRC114 Trichodental Dysplasia 18
1012 c WRD026 Waardenburg Syndrome, Type 2c 18
1013 c PRK084 Porokeratosis 6, Multiple Types 18
1014 c PRK075 Porokeratosis 7, Multiple Types 18
1015 c SX2003 Six2-Related Frontonasal Dysplasia 18
1016 CTN031 Cutaneous Pseudolymphoma 18
1017 c UVS003 Uv-Sensitive Syndrome 3 18
1018 c PSR027 Psoriasis 6 18
1019 VRS002 Virus-Associated Trichodysplasia Spinulosa 18
1020 c SYS051 Systemic Lupus Erythematosus 4 18
1021 c WSK002 Wiskott-Aldrich Syndrome 2 18
1022 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
1023 c GLP007 Geleophysic Dysplasia 3 18
1024 PPL038 Papular Xanthoma 18
1025 c 46X002 46 Xx Gonadal Dysgenesis 18
1026 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 18
1027 c PSR022 Psoriasis 15, Pustular 18
1028 CNJ004 Conjunctival Pigmentation 18
1029 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
1030 c WLL035 Woolly Hair, Autosomal Recessive 3 18
1031 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 18
1032 ELS004 Elastofibroma Dorsi 18
1033 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
1034 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
1035 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
1036 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 17
1037 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 17
1038 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
1039 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
1040 c WHT015 White Sponge Nevus 2 17
1041 c XLN229 X-Linked Chondrodysplasia Punctata 2 17
1042 c UVS004 Uv-Sensitive Syndrome 2 17
1043 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 17
1044 c WLL018 Woolly Hair, Autosomal Dominant 17
1045 c PSR026 Psoriasis 5 17
1046 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
1047 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1048 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 17
1049 c SYS053 Systemic Lupus Erythematosus 5 17
1050 c UNC019 Uncombable Hair Syndrome 2 16
1051 c EFM001 Efemp2-Related Cutis Laxa 16
1052 P NDL017 Nodular Cutaneous Amyloidosis 16
1053 c SYS040 Systemic Lupus Erythematosus 10 16
1054 c UNC018 Uncombable Hair Syndrome 3 16
1055 LNR012 Linear Verrucous Nevus Syndrome 16
1056 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 16
1057 DRM038 Dermotrichic Syndrome 16
1058 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1059 c DYS090 Dyschromatosis Universalis Hereditaria 1 16
1060 c PSR024 Psoriasis 3 16
1061 PHK006 Phakomatosis Pigmentokeratotica 16
1062 c LPR017 Leprosy 5 16
1063 c PSR031 Psoriasis 10 16
1064 c PSR025 Psoriasis 4 16
1065 CND001 Conidiobolomycosis 16
1066 c DWL004 Dowling-Degos Disease 4 16
1067 PPL044 Papular Elastorrhexis 15
1068 WRT005 Warty Dyskeratoma 15
1069 c SYS041 Systemic Lupus Erythematosus 9 15
1070 ERY050 Erythema Palmare Hereditarium 15
1071 c SYS055 Systemic Lupus Erythematosus 12 15
1072 c PRT135 Protoporphyria, Erythropoietic, 2 15
1073 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1074 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 15
1075 c LPR016 Leprosy 4 15
1076 c SYS047 Systemic Lupus Erythematosus 7 15
1077 ANT063 Anti-P200 Pemphigoid 15
1078 c PRK074 Porokeratosis 9, Multiple Types 15
1079 c ACQ026 Acquired Pseudoxanthoma Elasticum 15
1080 c LPR020 Leprosy 6 15
1081 ONY005 Onychomatricoma 15
1082 c SYS065 Systemic Lupus Erythematosus 11 15
1083 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 15
1084 ULC005 Ulcer of Lower Limbs 14
1085 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1086 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1087 ACR078 Acral Self-Healing Collodion Baby 14
1088 MDS003 Mediastinal Lipomatosis 14
1089 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
1090 ANN015 Anonychia with Flexural Pigmentation 13
1091 c AST057 Asthma-Related Traits 5 13
1092 HMN008 Hemangioma of Subcutaneous Tissue 13
1093 c HLL012 Hallermann-Streiff-Like Syndrome 13
1094 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 13
1095 CNG248 Congenital Smooth Muscle Hamartoma 13
1096 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
1097 c SYS052 Systemic Lupus Erythematosus 13 13
1098 c SYS048 Systemic Lupus Erythematosus 8 13
1099 c SYS045 Systemic Lupus Erythematosus 14 13
1100 c DWL005 Dowling-Degos Disease 3 13
1101 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 13
1102 c SYR009 Syringomas, Multiple 13
1103 c AST032 Asthma-Related Traits 7 13
1104 P PCH020 Pachyonychia Congenita, Autosomal Recessive 13
1105 CNG238 Congenital Panfollicular Nevus 13
1106 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1107 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1108 INF022 Inflamed Seborrheic Keratosis 13
1109 LCL017 Localized Pagetoid Reticulosis 13
1110 c PSR030 Psoriasis 8 13
1111 c ACQ036 Acquired Angioedema Type 2 13
1112 PLG007 Pili Gemini 13
1113 c PSR029 Psoriasis 9 13
1114 c SYS067 Systemic Lupus Erythematosus 15 12
1115 DPT001 Dipetalonemiasis 12
1116 P BLL013 Bullous Dystrophy, Macular Type 12
1117 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
1118 c DYS091 Dyschromatosis Universalis Hereditaria 2 12
1119 c LCH017 Lichen Planus, Familial 12
1120 c TYP003 Type I Ehlers-Danlos Syndrome 12
1121 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 12
1122 13Q001 13q12.3 Microdeletion Syndrome 12
1123 PLB003 Pili Bifurcati 12
1124 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
1125 ACR080 Acral Persistent Papular Mucinosis 12
1126 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 11
1127 c KRT070 Keratosis, Familial Actinic 11
1128 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
1129 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
1130 PRM233 Primary Cutaneous Plasmacytosis 11
1131 c PSR033 Psoriasis 12 11
1132 c FBL003 Fbln5-Related Cutis Laxa 11
1133 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
1134 CRC033 Circumscribed Palmoplantar Hypokeratosis 10
1135 ATY027 Atypical Lichen Myxedematosus 10
1136 c PPL045 Papular Mucinosis of Infancy 10
1137 WHT012 White Fibrous Papulosis of the Neck 10
1138 SLF008 Self-Healing Papular Mucinosis 10
1139 CNG531 Congenital Multiple Café-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome 10
1140 ANG006 Angiokeratoma of Mibelli 10
1141 MDS005 Mediastinal Granular Cell Myoblastoma 10
1142 c PRM185 Primary Essential Cutis Verticis Gyrata 9
1143 c KRN003 Kernicterus Due to Isoimmunization 9
1144 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1145 GRN047 Granulomatous Disease with Defect in Neutrophil Chemotaxis 9
1146 PRR034 Pruritus, Hereditary Localized 9
1147 VLV014 Vulva Fibroepithelial Polyp 9
1148 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 9
1149 c ACQ035 Acquired Angioedema Type 1 9
1150 STR005 Stork Bite 9
1151 DSC010 Discrete Papular Lichen Myxedematosus 9
1152 DDY001 Didymosis Aplasticosebacea 9
1153 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
1154 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1155 SCR010 Scrotal Angioma 8
1156 NDL018 Nodular Urticaria Pigmentosa 8
1157 TLN001 Telangiectatic Glomangioma 8
1158 CLC050 Calciphylaxis Cutis 8
1159 PHK009 Phakomatosis Cesiomarmorata 8
1160 DCT001 Dioctophymiasis 7
1161 MXL007 Maxillary Sinus Cholesteatoma 7
1162 STR006 Stromal Corneal Pigmentation 7
1163 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 7
1164 VLV007 Vulvar Inverted Follicular Keratosis 7
1165 PHK010 Phakomatosis Spilorosea 7
1166 ANG056 Angora Hair Nevus 7
1167 HYP039 Hypodermyiasis 6
1168 FRG002 Ferguson-Smith Tumor 6
1169 CHL020 Cholesteatoma of Attic 6
1170 c SCN010 Scn9a-Related Inherited Erythromelalgia 6
1171 VRR002 Verrucous Keratotic Hemangioma 6
1172 FBR006 Fibroepithelial Polyp of the Anus 6
1173 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1174 NDL019 Nodular Lichen Myxedematosus 6
1175 c RRL001 Rare Lichen Planus 6
1176 FBR005 Fibroepithelial Polyp of Urethra 6
1177 TYP022 Typical Urticaria Pigmentosa 6
1178 PLQ001 Plaque-Form Urticaria Pigmentosa 6
1179 CHN007 Chondroid Syringoma of the Vulva 5
1180 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 5
1181 SCL040 Scleromyxedema Without Monoclonal Gammopathy 4
1182 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
1183 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
1184 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
1185 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
1186 CNF001 Confetti-Like Macular Atrophy 4
1187 ACQ032 Acquired Kinky Hair Syndrome 4
1188 STR010 Steroid Lipomatosis 4
1189 KRT058 Keratoderma, Palmoplantar, with Deafness 27
1190 BSC001 Buschke-Ollendorff Syndrome 50
1191 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42
1192 NXS001 Naxos Disease 47
1193 GRD006 Geroderma Osteodysplastica 28
1194 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 46
1195 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 53
1196 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
1197 ALL010 Allergic Contact Dermatitis 59
1198 SQM006 Squamous Cell Carcinoma 59
1199 BZX001 Bazex Syndrome 46
1200 MJD001 Majeed Syndrome 34
1201 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 17
1202 MLN047 Melanoma-Pancreatic Cancer Syndrome 28
1203 CMB056 Combined Immunodeficiency with Skin Granulomas 9
1204 GMZ002 Gomez-Lopez-Hernandez Syndrome 32
1205 EPD081 Epidermoid Brain Cyst 13
1206 MLD006 Mal De Meleda 41
1207 BCK005 Becker Nevus Syndrome 35
1208 DRM050 Dermographism, Familial 28
1209 AQG003 Aquagenic Syringeal Acrokeratoderm 15
1210 EPD006 Epidermolysis Bullosa Acquisita 51
1211 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 41
1212 NDL009 Nodular Basal Cell Carcinoma 38
1213 KRT013 Keratolytic Winter Erythema 29
1214 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 54
1215 DFF035 Diffuse Cutaneous Systemic Sclerosis 50
1216 LNR006 Linear Iga Disease 43
1217 PPL049 Papillon-Lefevre Syndrome 55
1218 c CLR017 Clear Cell Sarcoma 50
1219 ICH002 Ichthyosis Bullosa of Siemens 47
1220 BRK001 Brooke-Spiegler Syndrome 46
1221 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 40
1222 P SML002 Small Cell Sarcoma 39
1223 GNT018 Gianotti Crosti Syndrome 26
1224 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 35
1225 GRD005 Geroderma Osteodysplasticum 31
1226 MTT001 Metatypical Basal Cell Carcinoma 19
1227 JNS005 Jones Hersh Yusk Syndrome 10
1228 BLM001 Bloom Syndrome 64
1229 P EHL001 Ehlers-Danlos Syndrome 61
1230 c PCH015 Pachyonychia Congenita 1 57
1231 CTN013 Cutaneous Anthrax 37
1232 GRV012 Grover's Disease 34
1233 BLL006 Bullous Pemphigoid 65
1234 ERY003 Erythema Multiforme 58
1235 P ICH001 Ichthyosis Vulgaris 53
1236 P APL006 Aplasia Cutis Congenita 52
1237 c PSR021 Psoriasis 14, Pustular 47
1238 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 45
1239 c SKN012 Skin Carcinoma in Situ 40
1240 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1241 ECT073 Ectodermal Dysplasia/short Stature Syndrome 21
1242 ABS001 Absence of Fingerprints Congenital Milia 18
1243 HYP691 Hypomelanosis of Ito 57
1244 P FNC043 Fanconi Anemia, Complementation Group E 54
1245 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 53
1246 c FNC042 Fanconi Anemia, Complementation Group D2 52
1247 P BRT029 Brittle Cornea Syndrome 2 50
1248 PGT003 Paget Disease, Extramammary 42
1249 c FNC045 Fanconi Anemia, Complementation Group F 41
1250 c FNC024 Fanconi Anemia, Complementation Group D1 41
1251 GNT020 Giant Congenital Nevus 37
1252 CTN009 Cutaneous Adenocystic Carcinoma 34
1253 ECC008 Eccrine Sweat Gland Neoplasm 31
1254 SKN011 Skin Pilomatrix Carcinoma 27
1255 TCH005 Tièche-Jadassohn Nevus 25
1256 CTN002 Cutaneous Mucoepidermoid Carcinoma 21
1257 c BLL009 Bullous Dystrophy Hereditary Macular Type 19
1258 BRS103 Bier Spots 14
1259 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
1260 JDG001 Judge Misch Wright Syndrome 7
1261 GRR001 Garret Tripp Syndrome 6
1262 VRC005 Varicose Veins 65
1263 c BSL007 Basal Cell Carcinoma 65
1264 PMS001 Poems Syndrome 64
1265 LPD016 Lipoid Proteinosis of Urbach and Wiethe 61
1266 P OCL002 Oculocutaneous Albinism 58
1267 P SML001 Small Cell Carcinoma 57
1268 c WRD030 Waardenburg Syndrome, Type 1 56
1269 BRT002 Birt-Hogg-Dube Syndrome 56
1270 P CRN038 Carney Complex Variant 55
1271 PLM026 Pilomatrixoma 53
1272 ICH054 Ichthyosis, X-Linked 50
1273 c LRG001 Large Cell Carcinoma 48
1274 CRS005 Crest Syndrome 44
1275 MLT152 Multiple Self-Healing Squamous Epithelioma 43
1276 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 40
1277 HMF008 Hemifacial Atrophy, Progressive 40
1278 SPT007 Spitz Nevus 40
1279 VBR001 Vibratory Urticaria 38
1280 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 37
1281 c BSL011 Basal Cell Carcinoma, Multiple 37
1282 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 36
1283 c CLL012 Cell Type Benign Neoplasm 36
1284 SCH038 Schopf-Schulz-Passarge Syndrome 35
1285 PRP005 Parapsoriasis 35
1286 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 35
1287 OCL034 Oculocerebrocutaneous Syndrome 33
1288 HMM002 Haim-Munk Syndrome 33
1289 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 31
1290 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
1291 BDN002 Bednar Tumor 28
1292 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 27
1293 c BSL027 Basal Cell Carcinoma 4 16
1294 c BSL034 Basal Cell Carcinoma 7 13
1295 c BSL025 Basal Cell Carcinoma 2 13
1296 c BSL028 Basal Cell Carcinoma 5 13
1297 c BSL026 Basal Cell Carcinoma 3 13
1298 c BSL029 Basal Cell Carcinoma 6 12
1299 P APL009 Aplasia Cutis Congenita of Limbs Recessive 8
1300 c NRF024 Neurofibromatosis, Type I 68
1301 MXD005 Mixed Connective Tissue Disease 65
1302 CLS005 Clouston Syndrome 62
1303 CMP010 Complex Regional Pain Syndrome 62
1304 ART001 Arterial Tortuosity Syndrome 60
1305 PBL005 Piebald Trait 58
1306 HDR002 Hidradenitis Suppurativa 56
1307 PPL025 Popliteal Pterygium Syndrome 56
1308 ONC002 Onchocerciasis 53
1309 KRT071 Keratosis, Seborrheic 52
1310 ACT164 Actinic Prurigo 50
1311 NLS001 Nelson Syndrome 50
1312 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1313 CHR031 Chromoblastomycosis 46
1314 ICH020 Ichthyosis Prematurity Syndrome 45
1315 PRL019 Prolidase Deficiency 43
1316 HDR004 Hidradenoma 42
1317 PRR013 Prurigo Nodularis 40
1318 VLV034 Vulva Squamous Cell Carcinoma 37
1319 P SPR013 Spiradenoma 37
1320 CNJ018 Conjunctival Squamous Cell Carcinoma 36
1321 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
1322 SKN021 Skin Sarcoma 33
1323 c MLG036 Malignant Spiradenoma 33
1324 c MLG049 Malignant Syringoma 32
1325 HLN001 Halo Nevi 32
1326 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 32
1327 PHC006 Phacomatosis Pigmentovascularis 32
1328 PNC060 Punctate Porokeratosis 28
1329 MLN064 Melanoma of Soft Tissue 28
1330 CTN027 Cutaneous Mastocytoma 26
1331 c TRC095 Trichoepithelioma, Multiple Familial, 1 25
1332 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 24
1333 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
1334 ACT160 Actinic Lichen Planus 19
1335 c TRC094 Trichoepithelioma, Multiple Familial, 2 16
1336 ANL016 Anal Margin Carcinoma 14
1337 ALG003 Al Gazali Aziz Salem Syndrome 11
1338 GRB001 Grubben De Cock Borghgraef Syndrome 8
1339 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1340 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 6
1341 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 6
1342 WRN001 Werner Syndrome 70
1343 P PRT008 Proteus Syndrome 69
1344 CHR063 Chronic Mucocutaneous Candidiasis 67
1345 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1346 P PNL012 Penile Cancer 57
1347 P PMP001 Pemphigus 55
1348 MLT163 Multiple Pterygium Syndrome, Escobar Variant 53
1349 P CPL006 Capillary Hemangioma 52
1350 RPP001 Rapp-Hodgkin Syndrome 52
1351 DYS022 Dyschromatosis Symmetrica Hereditaria 51
1352 HYP781 Hypoascorbemia 48
1353 ANL017 Anal Squamous Cell Carcinoma 48
1354 c BSL024 Basal Cell Carcinoma 1 47
1355 STT007 Steatocystoma Multiplex 46
1356 P DWL001 Dowling-Degos Disease 46
1357 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 43
1358 MSS002 Mass Syndrome 39
1359 PMP002 Pemphigoid Gestationis 39
1360 PRS063 Paresthesia 39
1361 ANG065 Angioma, Tufted 39
1362 P PRN020 Paranasal Sinus Cancer 38
1363 RTC001 Reticulohistiocytic Granuloma 38
1364 KRT003 Keratinizing Squamous Cell Carcinoma 35
1365 GLL015 Gallbladder Squamous Cell Carcinoma 34
1366 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 33
1367 ADN015 Adenoid Basal Cell Carcinoma 32
1368 MCP039 Mucoepithelial Dysplasia, Hereditary 31
1369 MXL004 Maxillary Sinus Squamous Cell Carcinoma 31
1370 INF027 Infiltrative Basal Cell Carcinoma 29
1371 PNS010 Penis Squamous Cell Carcinoma 28
1372 PGM002 Pigmented Basal Cell Carcinoma 27
1373 c PNL017 Penile Cancer, Adult 26
1374 c PRT063 Proteus-Like Syndrome 26
1375 ECC001 Eccrine Papillary Adenocarcinoma 25
1376 c MLG048 Malignant Acrospiroma 25
1377 PLM177 Pilomatrix Carcinoma 25
1378 NVD003 Nevoid Hypermelanosis, Linear and Whorled 24
1379 CYS004 Cystic Basal Cell Carcinoma 23
1380 CLR015 Clear Cell Basal Cell Carcinoma 22
1381 P ACR049 Acrospiroma 22
1382 SPR023 Supraglottis Squamous Cell Carcinoma 21
1383 CPL002 Capillary Lymphangioma 18
1384 THY027 Thymus Squamous Cell Carcinoma 17
1385 TRC017 Trachea Squamous Cell Carcinoma 17
1386 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 17
1387 HLL006 Halal Setton Wang Syndrome 16
1388 PPL004 Papillary Squamous Carcinoma 16
1389 c ANG028 Angioma Serpiginosum, Autosomal Dominant 16
1390 FRN005 Frontal Sinus Squamous Cell Carcinoma 14
1391 GLT004 Glottis Squamous Cell Carcinoma 12
1392 MCR016 Micronodular Basal Cell Carcinoma 12
1393 SRC003 Sarcomatoid Basal Cell Carcinoma 12
1394 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 12
1395 URT034 Urethra Squamous Cell Carcinoma 12
1396 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
1397 CRN001 Cornea Squamous Cell Carcinoma 11
1398 HRY007 Hairy Palms and Soles 11
1399 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
1400 YSH001 Yusho Disease 10
1401 ANL007 Anal Margin Squamous Cell Carcinoma 10
1402 ANL013 Anal Margin Basal Cell Carcinoma 9
1403 URT021 Ureter Squamous Cell Carcinoma 9
1404 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8
1405 SBG004 Subglottis Squamous Cell Carcinoma 8
1406 BSR001 Basaran Yilmaz Syndrome 8
1407 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 8
1408 SQR001 Sequeiros Sack Syndrome 7
1409 BRR007 Borrone Di Rocco Crovato Syndrome 6
1410 SGN001 Signet Ring Basal Cell Carcinoma 6
1411 RYM001 Roy Maroteaux Kremp Syndrome 6
1412 BDH001 Boudhina Yedes Khiari Syndrome 6
1413 SBC013 Sebaceous Basal Cell Carcinoma 5
1414 MLN017 Milner Khallouf Gibson Syndrome 5
1415 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1416 c PRN030 Paranasal Sinus Cancer, Adult 5
1417 ELL003 Elliott Ludman Teebi Syndrome 5
1418 P ART022 Arthritis 77
1419 P CWD001 Cowden Disease 71
1420 P ALC004 Alcohol Abuse 69
1421 c HPT073 Hepatitis C Virus 67
1422 ACN002 Acanthosis Nigricans 66
1423 YLL002 Yellow Fever 65
1424 P ALP009 Alopecia Areata 64
1425 P MYS005 Myositis 64
1426 PRP083 Porphyria, Acute Intermittent 64
1427 LYM021 Lymphadenitis 62
1428 RHM001 Rheumatic Fever 62
1429 BRN002 Bronchiolitis 62
1430 c ATM011 Autoimmune Hepatitis 61
1431 OCL020 Ocular Cicatricial Pemphigoid 59
1432 DNH001 Donohue Syndrome 59
1433 VGT001 Vogt-Koyanagi-Harada Disease 59
1434 GRG001 Greig Cephalopolysyndactyly Syndrome 58
1435 SML019 Smallpox 58
1436 WLL006 Wells Syndrome 57
1437 DSS009 Disseminated Intravascular Coagulation 56
1438 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 54
1439 BRL010 Buruli Ulcer 54
1440 P HMR005 Hemorrhoid 54
1441 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1442 P DPY001 Dupuytren Contracture 53
1443 CCT002 Cicatricial Pemphigoid 53
1444 P MRC003 Mercury Poisoning 53
1445 P ACQ022 Acquired Generalized Lipodystrophy 53
1446 P TCL004 T-Cell Leukemia 53
1447 SPT005 Spotted Fever 53
1448 ESN015 Eosinophilic Fasciitis 52
1449 HYP458 Hyper Ige Syndrome 52
1450 ALP097 Alopecia Universalis Congenita 52
1451 PST062 Pustulosis Palmaris Et Plantaris 52
1452 P CTN003 Cutaneous Lupus Erythematosus 52
1453 P WLL002 Weill-Marchesani Syndrome 52
1454 NDL003 Nodular Nonsuppurative Panniculitis 51
1455 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 51
1456 NCR007 Necrotizing Fasciitis 51
1457 LCH011 Lichen Planopilaris 50
1458 CTS011 Cutis Marmorata Telangiectatica Congenita 50
1459 P GND004 Gonadal Dysgenesis 50
1460 HYP088 Hyper-Igd Syndrome 50
1461 c SPN293 Spinocerebellar Ataxia 12 49
1462 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 49
1463 TMR010 Tumor Predisposition Syndrome 49
1464 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
1465 P PRK001 Porokeratosis 48
1466 TLR001 Tularemia 48
1467 c SPN312 Spinocerebellar Ataxia 14 47
1468 c WRD032 Waardenburg Syndrome, Type 2a 47
1469 MNL001 Monilethrix 47
1470 ERY004 Erysipelas 47
1471 SYR002 Syringocystadenoma Papilliferum 46
1472 PMP004 Pemphigus Foliaceus 46
1473 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 46
1474 PYG006 Pyogenic Granuloma 46
1475 c SPN100 Spinocerebellar Ataxia 27 45
1476 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 45
1477 P PRP034 Purpura Fulminans 45
1478 NRW001 Norwegian Scabies 45
1479 c ALB020 Albinism, Oculocutaneous, Type Iii 45
1480 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 44
1481 LCH009 Lichen Sclerosus 44
1482 c SPN103 Spinocerebellar Ataxia 31 44
1483 CCN007 Cocoon Syndrome 44
1484 c SPN265 Spinocerebellar Ataxia 36 43
1485 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
1486 TNG001 Tungiasis 42
1487 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 42
1488 SPR005 Superficial Basal Cell Carcinoma 42
1489 P PLL002 Pellagra 42
1490 c LPD019 Lipodystrophy, Partial, Acquired 42
1491 HYP236 Hyperbilirubinemia, Rotor Type 41
1492 c PMP006 Pemphigus Vulgaris, Familial 41
1493 P PST059 Pustular Psoriasis 41
1494 c SPN308 Spinocerebellar Ataxia 28 41
1495 GRN007 Granuloma Annulare 40
1496 P SYR003 Syringoma 40
1497 FNT005 Fontaine Progeroid Syndrome 40
1498 P UVS001 Uv-Sensitive Syndrome 39
1499 c ADM005 Adams-Oliver Syndrome 1 39
1500 c HRM011 Hermansky-Pudlak Syndrome 8 39
1501 NVS015 Nevus Comedonicus 39
1502 CLD011 Cold Urticaria 39
1503 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
1504 HYP137 Hypotrichosis Simplex 39
1505 BLR027 Blue Rubber Bleb Nevus 38
1506 c LSS006 Lissencephaly 2 38
1507 MCP033 Mucopolysaccharidoses 38
1508 c HRM012 Hermansky-Pudlak Syndrome 9 38
1509 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 38
1510 MLG141 Malignant Atrophic Papulosis 38
1511 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1512 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 37
1513 LCL022 Localized Lipodystrophy 37
1514 PRL042 Proliferating Trichilemmal Cyst 37
1515 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1516 c SYS061 Systemic Lupus Erythematosus 16 37
1517 XNT009 Xanthoma Disseminatum 37
1518 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
1519 LCH013 Lichen Planus Pemphigoides 36
1520 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
1521 P YWS001 Yaws 36
1522 c SPN299 Spinocerebellar Ataxia 20 36
1523 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1524 ORL022 Oral Erosive Lichen 36
1525 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1526 ELS002 Elastosis Perforans Serpiginosa 36
1527 c SPN247 Spinocerebellar Ataxia Type 19/22 36
1528 SBC017 Sebaceous Gland Disease 36
1529 AGG003 Aggressive Digital Papillary Adenocarcinoma 36
1530 INF046 Infantile Digital Fibromatosis 36
1531 LSS001 Loiasis 36
1532 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
1533 c FML294 Familial Short Qt Syndrome 35
1534 SCL025 Scleromyxedema 35
1535 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1536 PRG123 Progeroid Syndrome, Neonatal 35
1537 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 35
1538 HPR006 Heparin Cofactor Ii Deficiency 35
1539 SWT003 Sweat Gland Disease 34
1540 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
1541 PPL017 Papillary Hidradenoma 34
1542 c TRN014 Transient Arthritis 34
1543 c ICH023 Ichthyosis, Acquired 34
1544 ANH001 Ainhum 34
1545 P UNC017 Uncombable Hair Syndrome 1 34
1546 c HRM010 Hermansky-Pudlak Syndrome 7 34
1547 c SPN266 Spinocerebellar Ataxia 35 34
1548 LMB008 Limb-Mammary Syndrome 34
1549 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
1550 NCR002 Necrobiosis Lipoidica 34
1551 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 34
1552 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1553 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 33
1554 c SPN383 Spinocerebellar Ataxia 42 33
1555 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 33
1556 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1557 OCL033 Oculocerebral Syndrome with Hypopigmentation 33
1558 OCL039 Oculoectodermal Syndrome 33
1559 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
1560 c SPN095 Spinocerebellar Ataxia 19 32
1561 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 32
1562 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
1563 ALP048 Alopecia Totalis 32
1564 VLV002 Vulva Basal Cell Carcinoma 32
1565 PRG023 Progeroid Short Stature with Pigmented Nevi 32
1566 c DYS039 Dyskeratosis Congenita Autosomal Dominant 32
1567 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 32
1568 c MLG063 Malignant Dermis Tumor 32
1569 HNS001 Hansen's Disease 32
1570 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1571 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
1572 c SPN099 Spinocerebellar Ataxia 26 31
1573 SCL022 Scleredema 31
1574 c CCK002 Cockayne Syndrome Type I 31
1575 MRP002 Morpheaform Basal Cell Carcinoma 31
1576 RNG003 Ring Dermoid of Cornea 31
1577 c SPN284 Spinocerebellar Ataxia 38 31
1578 FRN020 Frontal Fibrosing Alopecia 31
1579 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 31
1580 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
1581 QNQ001 Quinquaud's Decalvans Folliculitis 30
1582 FXF002 Fox-Fordyce Disease 30
1583 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
1584 LPD026 Lipedema 30
1585 DRF001 Dirofilariasis 30
1586 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 30
1587 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 30
1588 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
1589 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
1590 CLR007 Colorado Tick Fever 30
1591 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
1592 P PLT008 Pili Torti 30
1593 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 30
1594 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 30
1595 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
1596 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
1597 c DYS040 Dyskeratosis Congenita Autosomal Recessive 30
1598 P FML313 Familial Progressive Hyperpigmentation 29
1599 NBL001 Nablus Mask-Like Facial Syndrome 29
1600 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1601 FBR015 Fibroepithelial Basal Cell Carcinoma 29
1602 c LSS010 Lissencephaly 4 29
1603 LSN002 Loose Anagen Hair Syndrome 29
1604 c SPN098 Spinocerebellar Ataxia 25 29
1605 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29
1606 MND023 Mend Syndrome 29
1607 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
1608 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1609 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 28
1610 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1611 ALL007 Allergic Urticaria 28
1612 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
1613 c SPN286 Spinocerebellar Ataxia 40 28
1614 c ADM007 Adams-Oliver Syndrome 2 28
1615 HRY005 Hairy Elbows 28
1616 KRN007 Kerion Celsi 28
1617 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 28
1618 HYP160 Hyperkeratosis Lenticularis Perstans 28
1619 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
1620 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 28
1621 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
1622 MLG032 Malignant Granular Cell Myoblastoma 27
1623 BJL001 Bejel 27
1624 c SPN372 Spinocerebellar Ataxia 43 27
1625 c ADM010 Adams-Oliver Syndrome 5 27
1626 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
1627 ECC005 Eccrine Adenocarcinoma 27
1628 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
1629 PNT003 Pinta Disease 27
1630 PRN035 Perniosis 27
1631 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 27
1632 LDD006 Ledderhose Disease 27
1633 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 26
1634 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 26
1635 RNG030 Ringed Hair 26
1636 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
1637 c CRN110 Cranioectodermal Dysplasia 3 26
1638 NCR009 Necrobiotic Xanthogranuloma 26
1639 HYP180 Hypertrichosis Lanuginosa Congenita 26
1640 GRD004 Gardner-Diamond Syndrome 26
1641 c PHL010 Peho-Like Syndrome 26
1642 c CCK004 Cockayne Syndrome Type Iii 26
1643 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
1644 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
1645 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
1646 P KRT014 Keratosis Follicularis Spinulosa Decalvans 26
1647 PLL005 Pallister-Killian Mosaic Syndrome 25
1648 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 25
1649 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
1650 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
1651 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 25
1652 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 25
1653 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 25
1654 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25
1655 c LSS025 Lissencephaly 5 25
1656 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1657 MNS001 Mansonelliasis 25
1658 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 25
1659 HRL002 Harlequin Syndrome 24
1660 c FML223 Familial Keratoacanthoma 24
1661 LLS001 Lelis Syndrome 24
1662 OCL030 Oculoauriculofrontonasal Syndrome 24
1663 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
1664 c CRN111 Cranioectodermal Dysplasia 4 24
1665 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1666 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
1667 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
1668 P HYD015 Hydroa Vacciniforme 24
1669 c SPN102 Spinocerebellar Ataxia 30 24
1670 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1671 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 24
1672 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
1673 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1674 c ALC016 Alcohol Sensitivity, Acute 23
1675 c SPN420 Spinocerebellar Ataxia 46 23
1676 TBS009 Teebi-Shaltout Syndrome 23
1677 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
1678 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 23
1679 LPS019 Lupus Erythematosus Tumidus 23
1680 PSD043 Pseudopelade of Brocq 23
1681 P PPL026 Papular Mucinosis 23
1682 URT052 Urticaria, Aquagenic 23
1683 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 23
1684 c LSS035 Lissencephaly 8 23
1685 BSS001 Basosquamous Carcinoma 23
1686 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
1687 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
1688 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 22
1689 c PRV018 Periventricular Nodular Heterotopia 7 22
1690 P CTS012 Cutis Verticis Gyrata 22
1691 HYP181 Hypertrichosis Lanuginosa, Acquired 22
1692 LCH008 Lichen Planus Pigmentosus 22
1693 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1694 P DRM012 Dermis Tumor 22
1695 c ADM009 Adams-Oliver Syndrome 4 22
1696 c ADM012 Adams-Oliver Syndrome 6 22
1697 P ACN018 Acne Inversa, Familial, 1 22
1698 c ADM008 Adams-Oliver Syndrome 3 22
1699 PRM128 Primary Cutaneous Follicle Center Lymphoma 22
1700 ACK001 Ackerman Syndrome 22
1701 c PRK080 Porokeratosis 3, Multiple Types 22
1702 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 22
1703 LYM123 Lymphedema-Hypoparathyroidism Syndrome 22
1704 c CRD167 Cardiofaciocutaneous Syndrome 4 21
1705 c CRD164 Cardiofaciocutaneous Syndrome 3 21
1706 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 21
1707 IND009 Indeterminate Cell Histiocytosis 21
1708 LNT008 Lentiginosis, Inherited Patterned 21
1709 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
1710 P NNP004 Nonphotosensitive Trichothiodystrophy 21
1711 MRN005 Marie Unna Congenital Hypotrichosis 21
1712 KYR001 Kyrle Disease 21
1713 HRF001 Hair Follicle Neoplasm 21
1714 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 21
1715 c ERL004 Early Yaws 21
1716 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 20
1717 ATR052 Atrophic Lichen Planus 20
1718 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 20
1719 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 20
1720 PTR029 Pterygium, Antecubital 20
1721 MTH082 Methemoglobinemia and Ambiguous Genitalia 20
1722 RDR002 Rodrigues Blindness 20
1723 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 20
1724 SND006 Sonoda Syndrome 20
1725 PLD002 Pilodental Dysplasia with Refractive Errors 20
1726 c ACN016 Acne Inversa, Familial, 3 20
1727 ICH035 Ichthyosis, Hystrix-Like, with Deafness 19
1728 c SPN107 Spinocerebellar Ataxia 9 19
1729 PTY005 Pityriasis Lichenoides Chronica 19
1730 OTN001 Otoonychoperoneal Syndrome 19
1731 ACR039 Acromegaloid Hypertrichosis Syndrome 19
1732 HYP489 Hypotrichosis-Deafness Syndrome 19
1733 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1734 LNR010 Linear Lichen Planus 19
1735 QST001 Question Mark Ears, Isolated 19
1736 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1737 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
1738 SCL051 Scalp Defects and Postaxial Polydactyly 18
1739 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1740 ELS005 Elastoma 18
1741 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 18
1742 FRN028 Furunculous Myiasis 18
1743 PBL004 Piebald Trait with Neurologic Defects 18
1744 PTY007 Pityriasis Rotunda 18
1745 TRG017 Trigeminal Trophic Syndrome 17
1746 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1747 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 17
1748 c HRN019 Hair-an Syndrome 17
1749 BKS002 Book Syndrome 17
1750 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
1751 c MYF010 Myofibromatosis, Infantile, 2 17
1752 EXG001 Exogenous Ochronosis 17
1753 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 17
1754 FLL020 Follicular Infundibulum Tumor 16
1755 GRN021 Granulomatous Rosacea 16
1756 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1757 ODN008 Odontomicronychial Dysplasia 16
1758 TRC052 Trichofolliculoma 16
1759 PRN017 Perianal Hematoma 16
1760 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1761 PMP003 Pemphigus and Fogo Selvagem 16
1762 AML012 Ameloonychohypohidrotic Syndrome 16
1763 SCR014 Scrotum Basal Cell Carcinoma 15
1764 PLT010 Pili Torti Onychodysplasia 15
1765 ICH012 Ichthyosis Hystrix Gravior 15
1766 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1767 c HYP563 Hyperpigmentation, Familial Progressive, 1 15
1768 IMM193 Immunodeficiency 58 15
1769 HYP182 Hypertrichosis, Anterior Cervical 15
1770 ANN014 Annular Lichen Planus 15
1771 PLT021 Pili Torti and Developmental Delay 14
1772 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1773 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1774 ORL024 Oral and Digital Anomalies with Ichthyosis 14
1775 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1776 c BCT018 Bacterial Myositis 14
1777 ODN004 Odonto Onycho Dysplasia with Alopecia 13
1778 c FML348 Familial Pityriasis Rubra Pilaris 13
1779 LNR001 Leiner Disease 13
1780 c INF119 Infantile Mercury Poisoning 13
1781 SCL044 Scalp Syndrome 13
1782 c VRL025 Viral Myositis 13
1783 ANN013 Annular Atrophic Lichen Planus 13
1784 c DFN345 Deafness, Congenital, with Total Albinism 12
1785 HYP742 Hyperpigmentation of Eyelids 12
1786 ACR040 Acromelanosis 12
1787 CHL021 Cholesteatoma of External Ear 12
1788 LBM004 Labium Majus Cancer 12
1789 LBM005 Labia Minora Cancer 12
1790 ALP049 Alopecia Antibody Deficiency 12
1791 CHR175 Chromhidrosis 12
1792 ONY004 Onychocytic Matricoma 11
1793 CRM013 Ceruminous Adenocarcinoma 11
1794 c ACQ039 Acquired Purpura Fulminans 11
1795 c HYD016 Hydroa Vacciniforme, Familial 11
1796 ONY006 Onychodystrophy-Anonychia 10
1797 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 10
1798 TRB003 Trueb Burg Bottani Syndrome 10
1799 GNN001 Genuine Diffuse Phlebectasia 10
1800 ACH007 Achenbach Syndrome 9
1801 RCH009 Roch-Leri Mesosomatous Lipomatosis 9
1802 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1803 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1804 c ATS415 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Deffect 9
1805 PRP010 Prepuce Cancer 8
1806 c AMY014 Amyloidosis Nodular Localized Cutaneous 8
1807 c SJG003 Sjogren-Larsson-Like Syndrome 7
1808 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1809 HYP046 Hypopigmentation of Eyelid 7
1810 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1811 c OCL037 Oculodentodigital Dysplasia Dominant 7
1812 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7
1813 NRH002 Neurohypophysis Granular Cell Tumor 6
1814 RTR017 Retrovirus-Associated Myelopathy 6
1815 FLL021 Follicular Basal Cell Carcinoma 6
1816 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
1817 BLN022 Blue Nevi, Familial Multiple 6
1818 VRR005 Verrucous Nevus Acanthokeratolytic 6
1819 c FML226 Familial Dupuytren Contracture 3
1820 CYL004 Cylindromatosis, Familial 32
1821 BLS001 Blau Syndrome 60
1822 TYL002 Tylosis with Esophageal Cancer 32
1823 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 49
1824 BP1002 Bap1 Tumor Predisposition Syndrome 25
1825 MCC012 Mccune-Albright Syndrome 66
1826 CHL122 Cholesteatoma of Middle Ear 55
1827 SZR001 Sezary's Disease 67
1828 c BNG091 Benign Chronic Pemphigus 51
1829 c GRS013 Griscelli Syndrome, Type 1 46
1830 MLN073 Melanosis, Neurocutaneous 44
1831 CRR017 Curry-Jones Syndrome 35
1832 MYC006 Mycosis Fungoides 73
1833 PRN038 Prune Belly Syndrome 49
1834 ENC010 Encephalocraniocutaneous Lipomatosis 48
1835 DSC014 Discoid Fibromas, Familial Multiple 17
1836 TLF001 Telfer Sugar Jaeger Syndrome 9
1837 c TBR025 Tuberous Sclerosis 1 72
1838 P TBR001 Tuberous Sclerosis 69
1839 P TRC102 Trichothiodystrophy 1, Photosensitive 61
1840 c ALB021 Albinism, Oculocutaneous, Type Ii 57
1841 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
1842 LYM008 Lymphangiosarcoma 53
1843 c ALB009 Albinism, Oculocutaneous, Type Ia 53
1844 c ALB010 Albinism, Oculocutaneous, Type Ib 49
1845 BRN003 Branchiooculofacial Syndrome 49
1846 FRN039 Frank-Ter Haar Syndrome 38
1847 ECC004 Eccrine Porocarcinoma 35
1848 c TRC100 Trichothiodystrophy 3, Photosensitive 23
1849 c TRC099 Trichothiodystrophy 2, Photosensitive 18
1850 DNT019 Daentl Towsend Siegel Syndrome 12
1851 CRH001 Crohn's Disease 77
1852 UND005 Undifferentiated Pleomorphic Sarcoma 66
1853 PRD013 Periodic Fever, Familial, Autosomal Dominant 65
1854 CNC002 Cinca Syndrome 62
1855 LNG039 Lung Squamous Cell Carcinoma 59
1856 P PMP005 Pemphigus Vulgaris 58
1857 BTN003 Biotinidase Deficiency 57
1858 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 57
1859 NPH018 Nephrogenic Systemic Fibrosis 56
1860 OCL009 Ocular Cancer 56
1861 LGS001 Legius Syndrome 56
1862 STR008 Strongyloidiasis 55
1863 FLR001 Filarial Elephantiasis 55
1864 HLC001 Holocarboxylase Synthetase Deficiency 53
1865 P PRM001 Primary Cutaneous Amyloidosis 51
1866 TTZ003 Tietz Albinism-Deafness Syndrome 50
1867 PRX015 Paroxysmal Extreme Pain Disorder 50
1868 LRY018 Laryngeal Squamous Cell Carcinoma 47
1869 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1870 P PRM018 Primary Hypertrophic Osteoarthropathy 45
1871 c MYF007 Myofibromatosis, Infantile, 1 43
1872 OST014 Osteopoikilosis 40
1873 BLD047 Bladder Squamous Cell Carcinoma 39
1874 CPL013 Capillary Malformations, Congenital 37
1875 ACR025 Acrocephalopolydactylous Dysplasia 34
1876 BSL044 Basal Cell Carcinoma, Infundibulocystic 33
1877 CLN009 Colon Squamous Cell Carcinoma 31
1878 MDD007 Middle Ear Squamous Cell Carcinoma 25
1879 ULR001 Ulerythema Ophryogenesis 17
1880 RNL009 Renal Pelvis Squamous Cell Carcinoma 17
1881 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 12
1882 LCR007 Lacrimal Gland Squamous Cell Carcinoma 11
1883 EXT016 External Ear Squamous Cell Carcinoma 10
1884 TNG005 Tang Hsi Ryu Syndrome 8
1885 P BRS047 Breast Cancer 100
1886 P AGM019 Agammaglobulinemia, X-Linked 73
1887 P TTR001 Tetralogy of Fallot 71
1888 LYM017 Lyme Disease 71
1889 ALL003 Allergic Rhinitis 70
1890 SCH036 Scheie Syndrome 69
1891 P CHR012 Chronic Granulomatous Disease 69
1892 PLL001 Pallister-Hall Syndrome 64
1893 DPH001 Diphtheria 63
1894 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 62
1895 PRC002 Paracoccidioidomycosis 61
1896 ELL001 Ellis-Van Creveld Syndrome 59
1897 c FML116 Familial Cold Autoinflammatory Syndrome 1 59
1898 P SHR029 Short Syndrome 59
1899 DBN001 Dubin-Johnson Syndrome 58
1900 P CTS001 Cutis Laxa 58
1901 P WRD001 Waardenburg's Syndrome 58
1902 MLK003 Melkersson-Rosenthal Syndrome 58
1903 c INF023 Inflammatory Breast Carcinoma 57
1904 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57
1905 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1906 c BRS049 Breast Carcinoma in Situ 56
1907 CHR288 Chronic Recurrent Multifocal Osteomyelitis 55
1908 c SPN291 Spinocerebellar Ataxia 7 55
1909 P CTN015 Cutaneous T Cell Lymphoma 55
1910 TRP002 Tropical Spastic Paraparesis 55
1911 NLP001 Nail-Patella Syndrome 55
1912 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 55
1913 MMM001 Mammary Paget's Disease 55
1914 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 55
1915 ANG005 Anogenital Venereal Wart 55
1916 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
1917 c ACT020 Acute T Cell Leukemia 54
1918 P ADM011 Adams-Oliver Syndrome 54
1919 CLC001 Calciphylaxis 53
1920 SPH001 Sapho Syndrome 53
1921 P FML052 Familial Cold Autoinflammatory Syndrome 53
1922 c LSS005 Lissencephaly 1 53
1923 MLT145 Multiple Enchondromatosis, Maffucci Type 52
1924 OCC006 Occipital Horn Syndrome 52
1925 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
1926 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1927 P PSD015 Pseudohypoparathyroidism 50
1928 c SPN309 Spinocerebellar Ataxia 6 50
1929 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
1930 c SPN314 Spinocerebellar Ataxia 10 50
1931 c SPR009 Sporadic Breast Cancer 50
1932 P KRN004 Kernicterus 50
1933 NNN026 Noonan Syndrome with Multiple Lentigines 49
1934 P LSS002 Lissencephaly 49
1935 PRP056 Porphyria, Acute Hepatic 48
1936 ANC001 Ancylostomiasis 48
1937 SBC011 Sebaceous Adenocarcinoma 48
1938 YLL001 Yellow Nail Syndrome 48
1939 MLR003 Melorheostosis 47
1940 c SPN296 Spinocerebellar Ataxia 17 47
1941 KMR001 Kimura Disease 47
1942 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
1943 MYP001 Myoepithelioma 47
1944 c HRM017 Hermansky-Pudlak Syndrome 2 46
1945 c 46X001 46 Xy Gonadal Dysgenesis 46
1946 ERY017 Erythema Elevatum Diutinum 46
1947 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 46
1948 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 45
1949 c ACQ012 Acquired Angioedema 45
1950 LYM052 Lymphomatoid Papulosis 45
1951 P GRN010 Granular Cell Tumor 45
1952 NRL002 Neurilemmomatosis 44
1953 c SPN305 Spinocerebellar Ataxia 11 44
1954 NRF008 Neurofibromatosis-Noonan Syndrome 44
1955 c LPD040 Lipodystrophy, Familial Partial, Type 1 44
1956 KDS001 Kid Syndrome 44
1957 FML091 Familial Tumoral Calcinosis 43
1958 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 43
1959 P MNT319 Mental Retardation, Autosomal Dominant 20 43
1960 c PRK082 Porokeratosis 1, Multiple Types 42
1961 MYL057 Myelopathy, Htlv-1-Associated 42
1962 LVD003 Livedoid Vasculitis 42
1963 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 42
1964 P FRN036 Frontonasal Dysplasia 1 42
1965 P WLL010 Woolly Hair Syndrome 42
1966 SWT002 Sweat Gland Cancer 42
1967 c MCP047 Mucopolysaccharidosis, Type Iva 42
1968 TRC077 Trichomegaly 41
1969 c MNT143 Mental Retardation, Autosomal Dominant 13 41
1970 c SPN106 Spinocerebellar Ataxia 5 41
1971 c SPN290 Spinocerebellar Ataxia 15 41
1972 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
1973 c SPN283 Spinocerebellar Ataxia 37 40
1974 c FNC046 Fanconi Anemia, Complementation Group P 39
1975 c SPN304 Spinocerebellar Ataxia 8 38
1976 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 38
1977 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 38
1978 CHL073 Cholestasis-Lymphedema Syndrome 38
1979 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 38
1980 c SPN094 Spinocerebellar Ataxia 18 37
1981 WYR002 Weyers Acrofacial Dysostosis 37
1982 c SPN097 Spinocerebellar Ataxia 23 36
1983 GTT002 Guttate Psoriasis 36
1984 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 35
1985 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 35
1986 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
1987 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
1988 DFN007 Deafness Enamel Hypoplasia Nail Defects 33
1989 c SPN105 Spinocerebellar Ataxia 4 33
1990 P EYL002 Eyelid Carcinoma 33
1991 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 32
1992 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 32
1993 STY001 Satoyoshi Syndrome 32
1994 P MLT048 Multiple Familial Trichoepithelioma 31
1995 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
1996 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 31
1997 c LKM005 Leukemia, T-Cell, Chronic 30
1998 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
1999 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 30
2000 c MNT185 Mental Retardation, Autosomal Dominant 7 30
2001 APC005 Apocrine Sweat Gland Neoplasm 30
2002 c CCK003 Cockayne Syndrome Type Ii 30
2003 c BRS046 Breast Benign Neoplasm 30
2004 c FML324 Familial Porphyria Cutanea Tarda 30
2005 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
2006 NST002 Nestor-Guillermo Progeria Syndrome 29
2007 c SPN104 Spinocerebellar Ataxia 34 29
2008 IMM080 Immunodeficiency 23 29
2009 c CNG133 Congenital Varicella Syndrome 29
2010 c MNT212 Mental Retardation, Autosomal Dominant 26 29
2011 P ALB003 Albinism-Deafness Syndrome 29
2012 c FML253 Familial Cold Autoinflammatory Syndrome 3 29
2013 c MNT246 Mental Retardation, Autosomal Dominant 38 28
2014 c MNT158 Mental Retardation, Autosomal Dominant 22 28
2015 c MNT241 Mental Retardation, Autosomal Dominant 32 28
2016 c MNT145 Mental Retardation, Autosomal Recessive 5 28
2017 c MNT210 Mental Retardation, Autosomal Recessive 42 28
2018 c MNT155 Mental Retardation, Autosomal Recessive 2 27
2019 c MNT270 Mental Retardation, Autosomal Recessive 53 27
2020 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 27
2021 ADN077 Adenosine Deaminase 2 Deficiency 27
2022 c ATS270 Autosomal Dominant Café Au Lait Spots 27
2023 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 27
2024 c MNT322 Mental Retardation, Autosomal Dominant 27 27
2025 c MNT157 Mental Retardation, Autosomal Dominant 18 27
2026 c MNT280 Mental Retardation, Autosomal Dominant 43 27
2027 c MNT213 Mental Retardation, Autosomal Recessive 40 27
2028 c MNT222 Mental Retardation, Autosomal Dominant 29 27
2029 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 26
2030 c MNT287 Mental Retardation, Autosomal Recessive 57 26
2031 c MNT325 Mental Retardation, Autosomal Recessive 61 26
2032 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
2033 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
2034 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 26
2035 c MNT166 Mental Retardation, Autosomal Recessive 39 26
2036 c MNT150 Mental Retardation, Autosomal Recessive 15 26
2037 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 26
2038 c MNT242 Mental Retardation, Autosomal Dominant 40 26
2039 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 26
2040 c MNT216 Mental Retardation, Autosomal Recessive 41 26
2041 c MNT214 Mental Retardation, Autosomal Dominant 24 26
2042 c MNT176 Mental Retardation, Autosomal Recessive 38 25
2043 c MNT219 Mental Retardation, Autosomal Dominant 30 25
2044 c MNT226 Mental Retardation, Autosomal Dominant 31 25
2045 RDT005 Radiation Induced Cancer 25
2046 ACR034 Acrogeria, Gottron Type 25
2047 c EYL006 Eyelid Benign Neoplasm 25
2048 c MNT244 Mental Retardation, Autosomal Recessive 49 25
2049 ACL002 Acalvaria 25
2050 CHL075 Cheilitis Glandularis 25
2051 c MNT272 Mental Retardation, Autosomal Dominant 41 25
2052 c MNT273 Mental Retardation, Autosomal Dominant 44 25
2053 ARD001 Aredyld 25
2054 c MNT238 Mental Retardation, Autosomal Dominant 34 25
2055 c MNT321 Mental Retardation, Autosomal Recessive 37 25
2056 c MNT239 Mental Retardation, Autosomal Dominant 35 25
2057 CTN025 Cutaneous Collagenous Vasculopathy 25
2058 c MNT262 Mental Retardation, Autosomal Dominant 42 25
2059 c MNT211 Mental Retardation, Autosomal Dominant 23 25
2060 c MNT179 Mental Retardation, Autosomal Dominant 21 25
2061 c FML299 Familial Adenomatous Polyposis 3 24
2062 c MNT177 Mental Retardation, Autosomal Recessive 27 24
2063 c MNT245 Mental Retardation, Autosomal Dominant 36 24
2064 c MNT324 Mental Retardation, Autosomal Dominant 49 24
2065 c MNT181 Mental Retardation, Autosomal Recessive 35 24
2066 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 24
2067 c MNT183 Mental Retardation, Autosomal Recessive 36 24
2068 c MNT323 Mental Retardation, Autosomal Dominant 48 24
2069 c MNT236 Mental Retardation, Autosomal Dominant 39 24
2070 c MNT159 Mental Retardation, Autosomal Dominant 19 24
2071 c MNT227 Mental Retardation, Autosomal Recessive 46 24
2072 c MNT221 Mental Retardation, Autosomal Recessive 44 24
2073 JNT001 Joint Laxity, Familial 24
2074 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24
2075 c MNT184 Mental Retardation, Autosomal Dominant 11 24
2076 c MNT285 Mental Retardation, Autosomal Recessive 58 24
2077 c FML347 Familial Adenomatous Polyposis 2 23
2078 c MNT240 Mental Retardation, Autosomal Dominant 33 23
2079 c MNT234 Mental Retardation, Autosomal Recessive 48 23
2080 c MNT328 Mental Retardation, Autosomal Dominant 52 23
2081 c FML339 Familial Adenomatous Polyposis 4 23
2082 c MNT154 Mental Retardation, Autosomal Recessive 14 22
2083 c MNT330 Mental Retardation, Autosomal Dominant 54 22
2084 c MNT327 Mental Retardation, Autosomal Dominant 51 22
2085 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22
2086 c MNT215 Mental Retardation, Autosomal Recessive 43 22
2087 c MNT162 Mental Retardation, Autosomal Recessive 24 22
2088 c MNT286 Mental Retardation, Autosomal Dominant 45 22
2089 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 22
2090 c MNT329 Mental Retardation, Autosomal Dominant 53 22
2091 c MNT225 Mental Retardation, Autosomal Recessive 47 22
2092 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
2093 c MNT326 Mental Retardation, Autosomal Dominant 50 22
2094 c ATP003 Atp6v0a2-Related Cutis Laxa 22
2095 c MNT220 Mental Retardation, Autosomal Recessive 45 22
2096 c MNT337 Mental Retardation, Autosomal Dominant 58 22
2097 DRM023 Dermoodontodysplasia 22
2098 c MNT186 Mental Retardation, Autosomal Dominant 10 22
2099 c MNT172 Mental Retardation, Autosomal Recessive 25 22
2100 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
2101 c MNT263 Mental Retardation, Autosomal Recessive 51 22
2102 c MNT165 Mental Retardation, Autosomal Recessive 28 22
2103 c MNT275 Mental Retardation, Autosomal Recessive 60 21
2104 c MNT278 Mental Retardation, Autosomal Dominant 46 21
2105 c MNT151 Mental Retardation, Autosomal Recessive 18 21
2106 IMM153 Immunodeficiency 51 21
2107 c AGM018 Agammaglobulinemia, X-Linked, Type 2 21
2108 c MNT163 Mental Retardation, Autosomal Recessive 30 21
2109 c MNT182 Mental Retardation, Autosomal Recessive 19 21
2110 c MNT167 Mental Retardation, Autosomal Recessive 16 21
2111 CLL041 Collagenoma, Familial Cutaneous 21
2112 c MNT336 Mental Retardation, Autosomal Recessive 64 21
2113 c MNT264 Mental Retardation, Autosomal Recessive 52 21
2114 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
2115 c MNT170 Mental Retardation, Autosomal Recessive 23 21
2116 c MNT180 Mental Retardation, Autosomal Recessive 33 21
2117 c MNT277 Mental Retardation, Autosomal Recessive 54 20
2118 c MNT243 Mental Retardation, Autosomal Recessive 50 20
2119 c MNT281 Mental Retardation, Autosomal Recessive 59 20
2120 c MNT161 Mental Retardation, Autosomal Recessive 29 20
2121 CLL039 Collagenosis, Familial Reactive Perforating 20
2122 c MNT335 Mental Retardation, Autosomal Recessive 63 20
2123 STT008 Steatocystoma Multiplex with Natal Teeth 20
2124 c MNT284 Mental Retardation, Autosomal Recessive 56 19
2125 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
2126 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
2127 c MNT160 Mental Retardation, Autosomal Recessive 31 19
2128 c PLL014 Pellagra-Like Syndrome 19
2129 CRN075 Crandall Syndrome 18
2130 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
2131 c MNT338 Mental Retardation, Autosomal Recessive 65 18
2132 MLN018 Moloney Syndrome 18
2133 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
2134 FLT007 Flotch Syndrome 17
2135 GST056 Gastrocutaneous Syndrome 17
2136 c MNT332 Mental Retardation, Autosomal Dominant 56 17
2137 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
2138 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 17
2139 CHM001 Cahmr Syndrome 17
2140 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 17
2141 ZNC006 Zinc, Elevated Plasma 17
2142 ALL002 Allergic Cutaneous Vasculitis 16
2143 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
2144 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
2145 ANG063 Angiolipomatosis, Familial 16
2146 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
2147 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 15
2148 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
2149 HMT019 Hematohidrosis 13
2150 EXT018 External Ear Basal Cell Carcinoma 11
2151 c ATS394 Autosomal Dominant Mental Retardation 55 10
2152 PGM026 Pgm3-Cdg 10
2153 P VRC007 Varicella, Severe Recurrent 10
2154 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
2155 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 8
2156 MLT051 Multiple Fibrofolliculoma Familial 6
2157 P PRP003 Porphyria Cutanea Tarda 67
2158 BSL036 Basal Cell Nevus Syndrome 69
2159 MST024 Mastocytosis, Cutaneous 64
2160 OSS012 Osseous Heteroplasia, Progressive 64
2161 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
2162 P LYN001 Lynch Syndrome 71
2163 OMN001 Omenn Syndrome 67
2164 ADN011 Adenoid Cystic Carcinoma 66
2165 HYP780 Hypoadrenocorticism, Familial 63
2166 c LYN004 Lynch Syndrome I 58
2167 P SJG002 Sjogren-Larsson Syndrome 53
2168 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 36
2169 P HYP607 Hypercholesterolemia, Familial 81
2170 P WSK001 Wiskott-Aldrich Syndrome 76
2171 c CWD006 Cowden Syndrome 1 71
2172 PTZ001 Peutz-Jeghers Syndrome 70
2173 FBR011 Fibrodysplasia Ossificans Progressiva 65
2174 RCK004 Rickets 65
2175 c LPM012 Lipomatosis, Multiple 64
2176 P HRM001 Hermansky-Pudlak Syndrome 64
2177 MNK001 Menkes Disease 64
2178 P PLY011 Polycystic Ovary Syndrome 64
2179 P BRN019 Bernard-Soulier Syndrome 61
2180 MRK001 Merkel Cell Carcinoma 60
2181 P SPN301 Spinocerebellar Ataxia 2 59
2182 P HRD011 Hereditary Spherocytosis 58
2183 GLB001 Gilbert Syndrome 58
2184 CYS005 Cysticercosis 58
2185 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 57
2186 MVL001 Mevalonic Aciduria 57
2187 c SPN294 Spinocerebellar Ataxia 1 57
2188 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
2189 c LPD015 Lipodystrophy, Familial Partial, Type 2 56
2190 DYS164 Dyskeratosis Congenita, X-Linked 56
2191 ARS001 Aarskog-Scott Syndrome 56
2192 MRT001 Muir-Torre Syndrome 55
2193 PNM001 Pneumocystosis 53
2194 P ERY008 Erythromelalgia 53
2195 c HMN021 Human T-Cell Leukemia Virus Type 1 52
2196 RSD004 Rosai-Dorfman Disease 52
2197 KHL003 Kohlschutter-Tonz Syndrome 52
2198 HNC001 Henoch-Schoenlein Purpura 51
2199 PSD014 Pseudopseudohypoparathyroidism 51
2200 CHR105 Choreoacanthocytosis 49
2201 ENC055 Encephalopathy, Ethylmalonic 48
2202 c CTS045 Cutis Laxa, Autosomal Dominant 1 48
2203 VCS001 Vici Syndrome 47
2204 ORL015 Oral Squamous Cell Carcinoma 46
2205 c SPH013 Spherocytosis, Type 1 46
2206 P BLP047 Blepharocheilodontic Syndrome 1 45
2207 P AMY084 Amyloidosis, Finnish Type 45
2208 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
2209 c TYR013 Tyrosinemia, Type Ii 45
2210 ADP001 Adiposis Dolorosa 45
2211 c SPN311 Spinocerebellar Ataxia 13 45
2212 c PLY105 Polycystic Ovary Syndrome 1 45
2213 DBW001 Dubowitz Syndrome 45
2214 GCH018 Gaucher Disease, Perinatal Lethal 45
2215 c HYP396 Hypercholesterolemia, Autosomal Recessive 43
2216 LPM010 Lipomatosis, Multiple Symmetric 43
2217 MRS002 Marshall Syndrome 42
2218 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
2219 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
2220 c HMN022 Human T-Cell Leukemia Virus Type 2 40
2221 APC004 Apocrine Adenocarcinoma 40
2222 P PHS005 Peho Syndrome 38
2223 c LKM004 Leukemia, B-Cell, Chronic 37
2224 c GRS012 Griscelli Syndrome, Type 3 37
2225 PLV001 Pelvic Lipomatosis 36
2226 P CLS054 Classic Ehlers-Danlos Syndrome 36
2227 BJR001 Bjornstad Syndrome 36
2228 c SPH014 Spherocytosis, Type 2 35
2229 WTK002 Witkop Syndrome 35
2230 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 34
2231 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 34
2232 TMP011 Temple-Baraitser Syndrome 34
2233 c SPN101 Spinocerebellar Ataxia 29 33
2234 JHN004 Johnson Neuroectodermal Syndrome 32
2235 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 32
2236 c SPN096 Spinocerebellar Ataxia 21 32
2237 P ATM076 Autoimmune Retinopathy 32
2238 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
2239 c PRV019 Periventricular Nodular Heterotopia 1 31
2240 LYM094 Lymphedema, Primary, with Myelodysplasia 31
2241 TRC118 Trichodentoosseous Syndrome 31
2242 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 28
2243 P MRL001 Meralgia Paresthetica 27
2244 CMP075 Campomelia, Cumming Type 27
2245 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
2246 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
2247 P CFL005 Cafe-Au-Lait Spots, Multiple 25
2248 SCR025 Scarf Syndrome 25
2249 c MNT282 Mental Retardation, Autosomal Recessive 55 24
2250 P ALP068 Alopecia-Intellectual Disability Syndrome 23
2251 c FML249 Familial Amyloidosis, Finnish Type 22
2252 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 22
2253 c MNT279 Mental Retardation, Autosomal Dominant 47 22
2254 c MNT334 Mental Retardation, Autosomal Dominant 57 21
2255 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 21
2256 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
2257 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
2258 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
2259 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 16
2260 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 15
2261 c HMN023 Human T-Cell Leukemia Virus Type 3 11
2262 c MRL006 Meralgia Paraesthetica, Familial 10
2263 c ALP081 Alopecia Intellectual Disability Syndrome 2 10
2264 c NDP001 Ndp-Related Retinopathies 7
2265 MCK007 Muckle-Wells Syndrome 62
2266 CNN003 Conn's Syndrome 73
2267 P FML011 Familial Adenomatous Polyposis 72
2268 CHD001 Chediak-Higashi Syndrome 68
2269 c MCP001 Mucopolysaccharidosis Iii 63
2270 c MCP052 Mucopolysaccharidosis, Type Vi 62
2271 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 60
2272 ALK013 Alkaptonuria 58
2273 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57
2274 c MCP004 Mucopolysaccharidosis Iv 57
2275 c MCP043 Mucopolysaccharidosis, Type Iiia 52
2276 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 50
2277 c MCP044 Mucopolysaccharidosis, Type Iiib 45
2278 P PRV002 Periventricular Nodular Heterotopia 45
2279 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 44
2280 c PSD117 Pseudohypoparathyroidism, Type Ic 37
2281 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 36
2282 c MCP045 Mucopolysaccharidosis, Type Iiic 35
2283 c WRD010 Waardenburg Syndrome Type 4 34
2284 c PSD104 Pseudohypoparathyroidism, Type Ii 33
2285 c MCP048 Mucopolysaccharidosis, Type Ivb 32
2286 c MCP046 Mucopolysaccharidosis, Type Iiid 32
2287 WYB001 Wyburn Mason's Syndrome 26
2288 c WRD029 Waardenburg Syndrome, Type 2b 23
2289 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 23
2290 VND003 Van Den Bosch Syndrome 16
2291 P CNG411 Congenital Disorder of Glycosylation, Type in 66
2292 c TYR012 Tyrosinemia, Type I 54
2293 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
2294 c HRM005 Hermansky-Pudlak Syndrome 1 53
2295 c HRM006 Hermansky-Pudlak Syndrome 3 51
2296 c HRM008 Hermansky-Pudlak Syndrome 5 50
2297 c HRM009 Hermansky-Pudlak Syndrome 6 44
2298 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
2299 c HRM007 Hermansky-Pudlak Syndrome 4 36
2300 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
2301 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
2302 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
2303 c PSD066 Pseudohypoparathyroidism, Type Ib 53
2304 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
2305 c CCK008 Cockayne Syndrome a 53
2306 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
2307 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
2308 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
2309 c LTB003 Ltbp4-Related Cutis Laxa 18
2310 P FML012 Familial Partial Lipodystrophy 52



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