Skin Diseases Category (2726 diseases)


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

# Family MCID Name MIFTS
1 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 49
2 ADR038 Adermatoglyphia 48
3 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 24
4 MLN008 Melanoma 68
5 OCL022 Ocular Melanoma 54
6 c XRD031 Xeroderma Pigmentosum, Complementation Group F 51
7 c XRD023 Xeroderma Pigmentosum, Complementation Group G 51
8 P XRD029 Xeroderma Pigmentosum, Complementation Group a 51
9 KRT022 Keratoderma Palmoplantar Spastic Paralysis 8
10 c XRD030 Xeroderma Pigmentosum, Complementation Group C 51
11 DGS008 Digestive System Melanoma 13
12 PRM139 Primary Melanoma of the Central Nervous System 16
13 KRT023 Keratoderma Palmoplantaris Transgrediens 13
14 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 11
15 c XRD022 Xeroderma Pigmentosum, Complementation Group D 56
16 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 13
17 UNN001 Unna-Thost Palmoplantar Keratoderma 12
18 c MLN043 Melanoma, Cutaneous Malignant 8 34
19 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 30
20 LPD014 Lipodermatosclerosis 40
21 c XRD021 Xeroderma Pigmentosum, Complementation Group E 42
22 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 28
23 c KRT018 Keratosis Palmoplantaris Striata Iii 16
24 EPD025 Epidermolysis Bullosa with Pyloric Atresia 30
25 P MLN069 Melanoma, Uveal 59
26 c XRD032 Xeroderma Pigmentosum, Complementation Group B 46
27 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 28
28 P KRT017 Keratosis Palmoplantaris Striata Ii 24
29 MLN070 Melanoma-Astrocytoma Syndrome 31
30 c MLN067 Melanoma, Cutaneous Malignant 2 29
31 c MLN075 Melanoma, Cutaneous Malignant 3 26
32 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26
33 c MLN076 Melanoma, Cutaneous Malignant 5 24
34 c MLN077 Melanoma, Cutaneous Malignant 9 22
35 c MLN042 Melanoma, Cutaneous Malignant 6 21
36 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 18
37 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
38 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
39 c PRM047 Primary Malignant Melanoma of the Cervix 11
40 AML001 Amelanotic Melanoma 38
41 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 20
42 MLG005 Malignant Spindle Cell Melanoma 37
43 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 32
44 TXC003 Toxicodendron Dermatitis 28
45 c PST022 Posterior Uveal Melanoma 39
46 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 16
47 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 15
48 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 14
49 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 13
50 TNN002 Tinea Unguium 39
51 LNT002 Lentigo Maligna Melanoma 34
52 GMZ002 Gomez-Lopez-Hernandez Syndrome 29
53 c EPD086 Epidermodysplasia Verruciformis 4 23
54 c MLN074 Melanoma, Cutaneous Malignant 4 20
55 SPR033 Superficial Spreading Melanoma 18
56 P ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46
57 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 44
58 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 44
59 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 44
60 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 44
61 XRD027 Xeroderma Pigmentosum Group E 35
62 PHT004 Photoallergic Dermatitis 33
63 c ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 31
64 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 30
65 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 28
66 DRM050 Dermographism, Familial 28
67 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 27
68 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 26
69 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 21
70 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 20
71 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 6
72 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 46
73 MLG142 Malignant Conjunctival Melanoma 31
74 c EPD085 Epidermodysplasia Verruciformis 3 25
75 c EPD084 Epidermodysplasia Verruciformis 2 20
76 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
77 ATM026 Autoimmune Progesterone Dermatitis 19
78 FCL036 Focal Palmoplantar and Gingival Keratoderma 13
79 RDS002 Red Skin Pigment Anomaly of New Guinea 10
80 MLG052 Malignant Cornea Melanoma 10
81 GNT084 Genetic Photodermatosis 6
82 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 33
83 c MLN055 Melanoma, Cutaneous Malignant 10 24
84 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21
85 c MLN040 Melanoma, Cutaneous Malignant 7 19
86 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 19
87 c PLN021 Peeling Skin Syndrome 3 18
88 c EPD087 Epidermodysplasia Verruciformis 5 18
89 KRT062 Keratoderma with Woolly Hair 10
90 DRM011 Dermatophytosis 49
91 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 25
92 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 20
93 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 11
94 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
95 DFF003 Diffuse Scleroderma 43
96 MLG038 Malignant Anus Melanoma 33
97 SKN020 Skin Papilloma 31
98 MLG070 Malignant Iris Melanoma 30
99 GNT020 Giant Congenital Nevus 28
100 MXD040 Mixed Cell Uveal Melanoma 27
101 c PLN024 Peeling Skin Syndrome 4 26
102 MNN010 Meningeal Melanoma 24
103 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 23
104 MLG061 Malignant Choroid Melanoma 22
105 MLN071 Melanoma Tumor Antigen Gp90 17
106 MLG062 Malignant Ciliary Body Melanoma 17
107 ESP016 Esophagus Melanoma 14
108 MLG008 Malignant Breast Melanoma 13
109 RCT003 Rectum Malignant Melanoma 10
110 JNS005 Jones Hersh Yusk Syndrome 9
111 RTN010 Retinal Melanoma 9
112 DYS044 Dysmorphism Cleft Palate Loose Skin 9
113 CHR448 Choroid Mixed Cell Melanoma 7
114 KZN001 Kuzniecky Andermann Syndrome 4
115 SKN026 Skin Cancer, Non Melanoma, Childhood 3
116 TNC002 Tinea Capitis 38
117 EPD070 Epidermoid Cysts 36
118 KSK002 Kosaki Overgrowth Syndrome 31
119 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 25
120 MLN046 Melanoma-Associated Retinopathy 25
121 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 23
122 IMM145 Immunodeficiency 11b with Atopic Dermatitis 20
123 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 19
124 DFF018 Diffuse Dermal Angiomatosis 12
125 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 10
126 c DWL002 Dowling-Degos Disease 1 59
127 KWS001 Kwashiorkor 46
128 NCK004 Nickel Allergic Contact Dermatitis 34
129 PLL016 Palladium Allergic Contact Dermatitis 26
130 c PLN028 Peeling Skin Syndrome 6 21
131 c PLN025 Peeling Skin Syndrome 5 18
132 PRC021 Parc Syndrome 17
133 DPD001 Deep Dermatophytosis 16
134 c DWL005 Dowling-Degos Disease 3 13
135 ABS001 Absence of Fingerprints Congenital Milia 11
136 FRM010 Formaldehyde Allergic Contact Dermatitis 8
137 CHR011 Choroid Spindle Cell Melanoma 8
138 CBL009 Cobalt Allergic Contact Dermatitis 7
139 BNZ004 Benzoic Acid Allergic Contact Dermatitis 5
140 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 5
141 KTP001 Ketoprofen Photoallergic Dermatitis 4
142 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 4
143 CRV076 Carvone Allergic Contact Dermatitis 4
144 PRT137 Parthenolide Allergic Contact Dermatitis 4
145 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 4
146 c FNC027 Fanconi Anemia, Complementation Group a 81
147 c FNC043 Fanconi Anemia, Complementation Group E 64
148 c FNC042 Fanconi Anemia, Complementation Group D2 56
149 P FNC044 Fanconi Anemia, Complementation Group C 56
150 c FNC025 Fanconi Anemia, Complementation Group J 51
151 c FNC029 Fanconi Anemia, Complementation Group I 50
152 c FNC024 Fanconi Anemia, Complementation Group D1 48
153 c FNC045 Fanconi Anemia, Complementation Group F 48
154 c FNC028 Fanconi Anemia, Complementation Group L 47
155 c FNC032 Fanconi Anemia, Complementation Group B 45
156 c FNC030 Fanconi Anemia, Complementation Group G 45
157 c FNC046 Fanconi Anemia, Complementation Group P 44
158 c FNC048 Fanconi Anemia, Complementation Group O 44
159 c FNC057 Fanconi Anemia, Complementation Group U 41
160 c FNC023 Fanconi Anemia, Complementation Group N 41
161 c FNC047 Fanconi Anemia, Complementation Group Q 39
162 MNN008 Meningeal Melanomatosis 37
163 c FNC052 Fanconi Anemia, Complementation Group T 37
164 c FNC058 Fanconi Anemia, Complementation Group R 35
165 c FNC062 Fanconi Anemia, Complementation Group S 34
166 VLV020 Vulvar Melanoma 34
167 c FNC056 Fanconi Anemia, Complementation Group V 33
168 WND001 Wound Botulism 30
169 c APL023 Aplasia Cutis Congenita, Nonsyndromic 30
170 TCH005 Tièche-Jadassohn Nevus 28
171 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 26
172 CTN001 Cutaneous Solitary Mastocytoma 26
173 ORB015 Orbital Melanoma 25
174 c FNC061 Fanconi Anemia, Complementation Group W 24
175 EPT001 Epithelioid Cell Melanoma 23
176 SPN047 Spindle Cell Intraocular Melanoma 20
177 JNC002 Junctional Epidermolysis Bullosa Inversa 20
178 GLL012 Gallbladder Melanoma 18
179 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 16
180 DFF028 Diffuse Leptomeningeal Melanocytosis 16
181 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 15
182 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 14
183 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 14
184 BRS103 Bier Spots 13
185 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 12
186 c MLN039 Melanoma, Uveal 1 12
187 CND003 Candidal Paronychia 12
188 c MLN041 Melanoma, Uveal 2 12
189 MGR041 Megarbane-Jalkh Syndrome 10
190 CHR045 Choroid Necrotic Melanoma 9
191 CLR002 Ciliary Body Spindle Cell Melanoma 8
192 ADL009 Adult Leptomeningeal Melanoma 7
193 SCR012 Scrotum Melanoma 7
194 UVL002 Uveal Epithelioid Cell Melanoma 7
195 JDG001 Judge Misch Wright Syndrome 7
196 PDT007 Pediatric Leptomeningeal Melanoma 6
197 CHR014 Choroid Epithelioid Cell Melanoma 6
198 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
199 PRM048 Primary Malignant Melanoma of the Conjunctiva 5
200 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 4
201 GRR001 Garret Tripp Syndrome 4
202 DRM062 Dermoid or Epidermoid Cyst of the Central Nervous System 4
203 MLG096 Malignant Melanoma, Childhood 3
204 MSM009 Mesomelic Dysplasia Skin Dimples 2
205 CDK001 Cdk4 Linked Melanoma 1
206 DRM018 Dermatocardioskeletal Syndrome Boronne Type 1
207 MXD005 Mixed Connective Tissue Disease 55
208 ONC002 Onchocerciasis 50
209 MCS004 Mucosal Melanoma 46
210 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 42
211 CRS005 Crest Syndrome 40
212 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 38
213 HMF008 Hemifacial Atrophy, Progressive 38
214 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 34
215 c BRT028 Brittle Cornea Syndrome 1 33
216 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
217 OCL034 Oculocerebrocutaneous Syndrome 31
218 c CRB100 Cerebrooculofacioskeletal Syndrome 4 31
219 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
220 c CRB098 Cerebrooculofacioskeletal Syndrome 2 29
221 c CRB099 Cerebrooculofacioskeletal Syndrome 3 29
222 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 27
223 BDN002 Bednar Tumor 25
224 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 21
225 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 19
226 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 18
227 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 15
228 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 15
229 YSH001 Yusho Disease 11
230 CNN005 Connective Tissue Disease 68
231 MLT163 Multiple Pterygium Syndrome, Escobar Variant 61
232 P PLY147 Polydactyly, Postaxial, Type A1 57
233 c CCK008 Cockayne Syndrome a 51
234 SCB001 Scabies 50
235 NLS001 Nelson Syndrome 44
236 c PCH010 Pachyonychia Congenita 3 43
237 PST053 Postherpetic Neuralgia 43
238 P PST059 Pustular Psoriasis 39
239 c PCH012 Pachyonychia Congenita 2 39
240 SPT007 Spitz Nevus 36
241 PPL052 Papillomatosis, Confluent and Reticulated 34
242 ACN010 Acanthoma 32
243 HLN001 Halo Nevi 30
244 PNC060 Punctate Porokeratosis 29
245 CMP060 Complement Component 9 Deficiency 26
246 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23
247 EHL015 Ehlers-Danlos Syndrome Progeroid Type 23
248 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 23
249 c DWL003 Dowling-Degos Disease 2 23
250 c PCH011 Pachyonychia Congenita 4 22
251 EPD004 Epidermolytic Acanthoma 22
252 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 19
253 c PSR022 Psoriasis 15, Pustular 18
254 c PLY178 Polydactyly, Postaxial, Type A8 16
255 c PLY103 Polydactyly, Postaxial, Type A5 16
256 c PLY101 Polydactyly, Postaxial, Type A6 15
257 c PLY144 Polydactyly, Postaxial, Type A7 15
258 c PLY163 Polydactyly, Postaxial, Type A2 15
259 c PLY182 Polydactyly, Postaxial, Type A9 14
260 TBR017 Tuberculin Skin Test Reactivity, Absence of 14
261 ALG003 Al Gazali Aziz Salem Syndrome 14
262 c PLY054 Polydactyly, Postaxial, Type A4 13
263 c PLY053 Polydactyly, Postaxial, Type A3 13
264 c PLY184 Polydactyly, Postaxial, Type A10 13
265 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 12
266 CHR679 Chromium Allergic Contact Dermatitis 11
267 DRM047 Dermatoglyphics--Arch on Any Digit 7
268 IRS001 Iris Spindle Cell Melanoma 7
269 GRB001 Grubben De Cock Borghgraef Syndrome 7
270 END012 Endometriosis in Scar of Skin 6
271 PTS020 Potassium Dichromate Allergic Contact Dermatitis 5
272 c HRD010 Hereditary Spastic Paraplegia 67
273 P CRN038 Carney Complex Variant 63
274 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
275 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57
276 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
277 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 56
278 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
279 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
280 P IDP024 Idiopathic Inflammatory Myopathy 49
281 P OCL001 Ocular Albinism 48
282 HYP781 Hypoascorbemia 48
283 P DPY001 Dupuytren Contracture 48
284 RYN001 Raynaud Disease 48
285 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
286 TLR001 Tularemia 44
287 c CRN243 Carney Complex, Type 1 43
288 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
289 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
290 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
291 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
292 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
293 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
294 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
295 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
296 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
297 MCC013 Mucocutaneous Ulceration, Chronic 39
298 c ALB024 Albinism, Ocular, Type I 38
299 ANG065 Angioma, Tufted 38
300 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
301 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
302 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
303 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
304 PTY002 Pityriasis Versicolor 37
305 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
306 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
307 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
308 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
309 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
310 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
311 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
312 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
313 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
314 OVR104 Ovarian Melanoma 35
315 c SPS021 Spastic Paraplegia 10 35
316 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
317 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
318 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
319 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
320 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
321 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
322 MLN002 Melanomatosis 33
323 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
324 YSY001 Yao Syndrome 33
325 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
326 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
327 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
328 c SPS025 Spastic Paraplegia 15 31
329 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
330 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
331 c SPS036 Spastic Paraplegia 3 31
332 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
333 c SPS013 Spastic Paraplegia 8 30
334 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
335 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
336 c SPS091 Spastic Paraplegia 4 29
337 RTC001 Reticulohistiocytic Granuloma 28
338 PRN035 Perniosis 28
339 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
340 c SPS039 Spastic Paraplegia 5a 28
341 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
342 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
343 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
344 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
345 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
346 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
347 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
348 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
349 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
350 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
351 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
352 P SPS012 Spastic Paraplegia 3a 26
353 c SPS041 Spastic Paraplegia 6 26
354 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
355 c SPS092 Spastic Paraplegia 11 26
356 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
357 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
358 ZNC004 Zinc Deficiency, Transient Neonatal 25
359 DRM046 Dermal Ridges-off-the-End 24
360 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
361 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
362 c SPS027 Spastic Paraplegia 17 24
363 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
364 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
365 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
366 c SPS020 Spastic Paraplegia 1 22
367 c SPS042 Spastic Paraplegia 9 22
368 c SPS023 Spastic Paraplegia 13 21
369 c HRD186 Hereditary Spastic Paraplegia 51 20
370 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
371 NTL003 Notalgia Paresthetica 20
372 AQG001 Aquagenic Pruritus 20
373 c SPS037 Spastic Paraplegia 31 20
374 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 19
375 c SPS038 Spastic Paraplegia 39 19
376 c HRD188 Hereditary Spastic Paraplegia 72 19
377 c SPS022 Spastic Paraplegia 12 19
378 LNR001 Leiner Disease 18
379 c SPS028 Spastic Paraplegia 18 18
380 c JVN060 Juvenile Idiopathic Inflammatory Myopathy 18
381 c SPS034 Spastic Paraplegia 26 18
382 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 17
383 c CRN298 Carney Complex, Type 2 17
384 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 16
385 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 16
386 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 16
387 c SPS032 Spastic Paraplegia 24 15
388 c HRD210 Hereditary Spastic Paraplegia 23 14
389 c OBS225 Obsolete: Xeroderma Pigmentosum Complementation Group F 14
390 c SPS029 Spastic Paraplegia 19 14
391 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 14
392 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
393 c SPS035 Spastic Paraplegia 29 13
394 c SPS161 Spastic Paraplegia 32 13
395 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 13
396 c SPS033 Spastic Paraplegia 25 13
397 NNT046 Neonatal Dermatomyositis 12
398 c SPS080 Spastic Paraplegia 51 12
399 P CRV009 Cervix Melanoma 12
400 c SPS024 Spastic Paraplegia 14 12
401 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 12
402 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
403 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
404 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
405 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
406 c SPS165 Spastic Paraplegia 47 12
407 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
408 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
409 c SPS230 Spastic Paraplegia Type 49 11
410 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
411 NCR008 Necrotic Uveal Melanoma 11
412 c SPS026 Spastic Paraplegia 16 11
413 NNT043 Neonatal Scleroderma 11
414 HRY007 Hairy Palms and Soles 10
415 PSD110 Pseudoatrophoderma Colli 10
416 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
417 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 10
418 HST020 Histiocytic Dermatoarthritis 10
419 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
420 c OBS227 Obsolete: Xeroderma Pigmentosum Complementation Group D 9
421 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 9
422 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 9
423 BDH001 Boudhina Yedes Khiari Syndrome 9
424 c OBS228 Obsolete: Xeroderma Pigmentosum Complementation Group C 9
425 MLN068 Melanoma, Malignant Familial Intraocular 9
426 OBS128 Obsolete: Ectodermal Dysplasia-Absent Dermatoglyphs Syndrome 8
427 c OBS224 Obsolete: Xeroderma Pigmentosum Complementation Group a 8
428 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 8
429 P APL009 Aplasia Cutis Congenita of Limbs Recessive 8
430 PTT039 Pituitary Dermoid and Epidermoid Cysts 8
431 c OBS229 Obsolete: Xeroderma Pigmentosum Complementation Group G 8
432 DRM045 Dermal Ridges, Patternless 8
433 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 7
434 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 7
435 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7
436 DRM049 Dermatoglyphics--Fingerprint Pattern 7
437 BSR001 Basaran Yilmaz Syndrome 7
438 BRR007 Borrone Di Rocco Crovato Syndrome 7
439 P OBS223 Obsolete: Xeroderma Pigmentosum Complementation Group B 7
440 c SPS040 Spastic Paraplegia 5b 7
441 DRM044 Dermal Ridges, Nelson Syndrome 7
442 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 6
443 DRM052 Dermatoglyphics--Hypothenar Radial Arch 6
444 PRT089 Partial Deep Dermal and Full Thickness Burns 6
445 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
446 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
447 MLN017 Milner Khallouf Gibson Syndrome 6
448 c OBS226 Obsolete: Xeroderma Pigmentosum Complementation Group E 5
449 ELL003 Elliott Ludman Teebi Syndrome 5
450 RYM001 Roy Maroteaux Kremp Syndrome 5
451 CLR008 Ciliary Body Mixed Cell Melanoma 5
452 IRS002 Iris Mixed Cell Melanoma 5
453 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
454 OBS428 Obsolete: Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 5
455 c LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 5
456 GNT094 Genetic Pigmentation Anomaly of the Skin 4
457 OBS195 Obsolete: Intellectual Disability-Hypotonia-Skin Hyperpigmentation Syndrome 4
458 DRM048 Dermatoglyphics--Finger Ridge Count 4
459 OBS620 Obsolete: Pediatric Systemic Sclerosis 4
460 NNR014 Non-Rare Skin Disease 3
461 GNT085 Genetic Immune Deficiency with Skin Involvement 3
462 GNT087 Genetic Skin Tumor 3
463 GNT091 Genetic Hyperpigmentation of the Skin 3
464 GNT092 Genetic Hypopigmentation of the Skin 3
465 OBS540 Obsolete: Melanoma-Pancreatic Cancer Syndrome 3
466 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 2
467 GNT095 Genetic Erythrokeratoderma 2
468 GNT097 Genetic Acrokeratoderma 2
469 GNT098 Genetic Epidermal Appendage Anomaly 2
470 GNT100 Genetic Epidermal Disorder 2
471 OBS175 Obsolete: Epidermal Nevus-Vitamin D-Resistant Rickets Syndrome 2
472 OBS198 Obsolete: Hereditary Epidermolysis Bullosa Associated with Ocular Features 2
473 P OBS331 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Allopurinol Treatment 2
474 c OBS332 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Carbamazepine Treatment 2
475 c OBS333 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Phenytoin Treatment 2
476 c OBS334 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Phosphenytoin Treatment 2
477 SLC040 Selection of Therapeutic Option in Melanoma 2
478 OTH024 Other Genetic Epidermal Disease 2
479 c OBS688 Obsolete: Malignant Tumor of Palpebral Epidermis 2
480 OBS689 Obsolete: Precancerous Lesion of Palpebral Epidermis 2
481 OBS691 Obsolete: Palpebral Malignant Melanoma 2
482 OBS697 Obsolete: Palpebral Epidermal Tumor 2
483 P OBS698 Obsolete: Benign Tumor of Palpebral Epidermis 2
484 OBS738 Obsolete: Genodermatosis with Ocular Features 2
485 c FML226 Familial Dupuytren Contracture 2
486 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82
487 c HMC039 Hemochromatosis, Type 1 73
488 c CNG411 Congenital Disorder of Glycosylation, Type in 66
489 CNC002 Cinca Syndrome 63
490 GRN037 Granulomatosis with Polyangiitis 62
491 ACN002 Acanthosis Nigricans 62
492 P ALP009 Alopecia Areata 61
493 P URT039 Urticaria 61
494 CTN007 Cutaneous Leishmaniasis 61
495 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 61
496 DRR014 Darier-White Disease 60
497 P SYP003 Syphilis 59
498 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 57
499 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
500 P ICH004 Ichthyosis 55
501 c PSR017 Psoriasis 2 55
502 RSC001 Rosacea 55
503 P ANG015 Angioedema 54
504 P CLS054 Classic Ehlers-Danlos Syndrome 52
505 KRT009 Keratosis 52
506 P HYP077 Hypertrichosis 51
507 OCC006 Occipital Horn Syndrome 51
508 c HMC021 Hemochromatosis, Type 2a 51
509 RFL001 Reflex Sympathetic Dystrophy 50
510 P ACT008 Actinic Keratosis 50
511 WLL006 Wells Syndrome 50
512 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
513 P CTN003 Cutaneous Lupus Erythematosus 50
514 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
515 c HMC035 Hemochromatosis, Type 4 49
516 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
517 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
518 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
519 HDR003 Hidradenitis 48
520 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
521 P MRC003 Mercury Poisoning 47
522 NCR007 Necrotizing Fasciitis 47
523 PNN001 Panniculitis 47
524 LNT004 Lentigines 47
525 PRN014 Paronychia 47
526 ANH002 Anhidrosis 47
527 FLL008 Folliculitis 46
528 ATR013 Atrichia with Papular Lesions 46
529 CHL056 Cheilitis 46
530 c HMC010 Hemochromatosis, Type 3 46
531 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
532 c HMC009 Hemochromatosis Type 2 45
533 MLT145 Multiple Enchondromatosis, Maffucci Type 45
534 PKL001 Poikiloderma with Neutropenia 45
535 ENC010 Encephalocraniocutaneous Lipomatosis 45
536 c TRC092 Trichorhinophalangeal Syndrome, Type I 45
537 NDL003 Nodular Nonsuppurative Panniculitis 45
538 HYP457 Hypertrophic Scars 44
539 PTY001 Pityriasis Rosea 43
540 GRN007 Granuloma Annulare 43
541 PYG006 Pyogenic Granuloma 43
542 PRN049 Paraneoplastic Pemphigus 43
543 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
544 PMP004 Pemphigus Foliaceus 42
545 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
546 NRW001 Norwegian Scabies 42
547 P GLP001 Geleophysic Dysplasia 42
548 EPC005 Epicanthus 42
549 PHH001 Phaeohyphomycosis 42
550 AND014 Androgenic Alopecia 41
551 P TRC031 Trichorhinophalangeal Syndrome 41
552 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
553 EMY001 Eumycotic Mycetoma 41
554 c INT059 Internal Hemorrhoid 41
555 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 41
556 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
557 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
558 P RRH023 Rare Hereditary Hemochromatosis 41
559 PSD016 Pseudosarcomatous Fibromatosis 40
560 SCH037 Schinzel-Giedion Midface Retraction Syndrome 40
561 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
562 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
563 c PSR028 Psoriasis 7 40
564 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
565 P UVS001 Uv-Sensitive Syndrome 40
566 c PSR018 Psoriasis 13 40
567 c PSR032 Psoriasis 11 40
568 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 39
569 MNS001 Mansonelliasis 39
570 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
571 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
572 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
573 c CNG033 Congenital Syphilis 38
574 P DYS023 Dyschromatosis Universalis Hereditaria 38
575 c SCN006 Secondary Syphilis 38
576 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
577 ATN014 Autoinflammation with Arthritis and Dyskeratosis 38
578 KLD003 Keloid Formation 38
579 BLL012 Bullous Impetigo 37
580 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
581 DRG013 Drug-Induced Lupus Erythematosus 37
582 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 37
583 HYP137 Hypotrichosis Simplex 37
584 FXD003 Fixed Drug Eruption 36
585 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
586 NCR002 Necrobiosis Lipoidica 36
587 ECT004 Ecthyma 36
588 CTN011 Cutaneous Porphyria 36
589 LCH003 Lichen Nitidus 36
590 XNT009 Xanthoma Disseminatum 36
591 c CNG379 Congenital Disorder of Glycosylation, Type It 36
592 LCH016 Lichen Sclerosus Et Atrophicus 36
593 NNL001 Non-Langerhans-Cell Histiocytosis 36
594 CLD011 Cold Urticaria 35
595 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
596 TNG001 Tungiasis 35
597 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
598 c HMC034 Hemochromatosis, Type 5 34
599 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
600 SCL002 Scleredema Adultorum 34
601 c SBC035 Subacute Cutaneous Lupus Erythematosus 34
602 ERY002 Erythema Infectiosum 34
603 FCL003 Facial Hemiatrophy 34
604 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
605 INV005 Inverted Follicular Keratosis 34
606 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
607 LCH013 Lichen Planus Pemphigoides 33
608 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
609 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 33
610 c GLP003 Geleophysic Dysplasia 1 33
611 LPD026 Lipedema 32
612 c LCL022 Localized Lipodystrophy 32
613 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 32
614 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 32
615 FLL019 Follicular Mucinosis 32
616 c JVN024 Juvenile Hereditary Hemochromatosis 32
617 MLR001 Miliaria Rubra 32
618 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
619 PRL042 Proliferating Trichilemmal Cyst 32
620 KNC002 Knuckle Pads 32
621 PLN001 Plantar Wart 31
622 TKN001 Takenouchi-Kosaki Syndrome 31
623 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
624 c AST055 Asthma-Related Traits 1 31
625 INF046 Infantile Digital Fibromatosis 31
626 P AST056 Asthma-Related Traits 2 31
627 SCL022 Scleredema 31
628 IMP001 Impetigo Herpetiformis 30
629 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 30
630 NDL010 Nodular Hidradenoma 30
631 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 30
632 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 30
633 c GLP004 Geleophysic Dysplasia 2 30
634 c PRM022 Primary Syphilis 30
635 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
636 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 30
637 FLL042 Folliculotropic Mycosis Fungoides 30
638 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
639 LCH014 Lichen Amyloidosis 30
640 c AST034 Asthma-Related Traits 4 29
641 MNG001 Mongolian Spot 29
642 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
643 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 29
644 CRB016 Carbuncle 29
645 PHY008 Physical Urticaria 29
646 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
647 SBC019 Subcutaneous Mycosis 29
648 ERY066 Erythema Multiforme Major 29
649 CNR001 Coenurosis 29
650 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
651 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
652 c ACQ043 Acquired Lipodystrophy 28
653 BNG069 Benign Cephalic Histiocytosis 28
654 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
655 CHL035 Cholinergic Urticaria 28
656 MLN005 Melanoacanthoma 28
657 c ICH023 Ichthyosis, Acquired 28
658 VRL002 Variola Minor 28
659 P PLT008 Pili Torti 28
660 PMP008 Pemphigus Vegetans 27
661 LDW001 Ludwig's Angina 27
662 IGP001 Iga Pemphigus 27
663 TLG001 Telogen Effluvium 27
664 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
665 c ERL002 Early Congenital Syphilis 27
666 HRY005 Hairy Elbows 27
667 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
668 LCH004 Lichen Disease 26
669 LDD006 Ledderhose Disease 26
670 HYP180 Hypertrichosis Lanuginosa Congenita 26
671 PTY007 Pityriasis Rotunda 26
672 P KRT014 Keratosis Follicularis Spinulosa Decalvans 26
673 c ACQ027 Acquired Cutis Laxa 26
674 ACR039 Acromegaloid Hypertrichosis Syndrome 25
675 RNG030 Ringed Hair 25
676 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 25
677 TNM001 Tinea Imbricata 25
678 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
679 PSD078 Pseudofolliculitis Barbae 25
680 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
681 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 25
682 c LTC001 Late Congenital Syphilis 25
683 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
684 c PSR025 Psoriasis 4 25
685 c PSR024 Psoriasis 3 25
686 HRL002 Harlequin Syndrome 25
687 CLR013 Clear Cell Hidradenoma 24
688 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
689 c HMC019 Hemochromatosis, Type 2b 24
690 c ALP039 Alopecia Areata 1 23
691 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 23
692 CLC064 Calcifying Aponeurotic Fibroma 23
693 c GLP007 Geleophysic Dysplasia 3 23
694 c PLT022 Pili Torti, Early-Onset 23
695 P HYD015 Hydroa Vacciniforme 23
696 HYP267 Hyperchlorhidrosis, Isolated 23
697 c WRD022 Waardenburg Syndrome, Type 2d 23
698 c UVS005 Uv-Sensitive Syndrome 1 23
699 EXF002 Exfoliative Ichthyosis 23
700 KYR001 Kyrle Disease 23
701 LLS001 Lelis Syndrome 22
702 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 22
703 DFF009 Diffuse Lipomatosis 22
704 ART037 Arthrogryposis and Ectodermal Dysplasia 22
705 c PSR027 Psoriasis 6 22
706 INF022 Inflamed Seborrheic Keratosis 22
707 c UVS003 Uv-Sensitive Syndrome 3 22
708 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
709 c PSR026 Psoriasis 5 22
710 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
711 CNJ004 Conjunctival Pigmentation 21
712 LCH008 Lichen Planus Pigmentosus 21
713 MCL047 Macular Amyloidosis 21
714 P CTS012 Cutis Verticis Gyrata 21
715 c PSR031 Psoriasis 10 21
716 PLL005 Pallister-Killian Mosaic Syndrome 21
717 c PSR033 Psoriasis 12 21
718 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 21
719 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 20
720 PRG077 Progressive Nodular Histiocytosis 20
721 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 20
722 WRB006 Warburg-Cinotti Syndrome 20
723 PTY005 Pityriasis Lichenoides Chronica 19
724 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
725 HYP641 Hypotrichosis Simplex of the Scalp 19
726 HMN008 Hemangioma of Subcutaneous Tissue 19
727 PTR029 Pterygium, Antecubital 19
728 HST018 Histiocytosis, Progressive Mucinous 19
729 c WRD029 Waardenburg Syndrome, Type 2b 19
730 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 19
731 c UVS004 Uv-Sensitive Syndrome 2 19
732 ELS004 Elastofibroma Dorsi 19
733 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 19
734 KRT077 Keratinopathic Ichthyosis 18
735 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 18
736 PLD002 Pilodental Dysplasia with Refractive Errors 18
737 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 18
738 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18
739 c PSR030 Psoriasis 8 18
740 TRG017 Trigeminal Trophic Syndrome 18
741 SND006 Sonoda Syndrome 18
742 c PSR029 Psoriasis 9 18
743 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 18
744 MDS003 Mediastinal Lipomatosis 17
745 c LTY001 Late Yaws 17
746 P NDL017 Nodular Cutaneous Amyloidosis 17
747 ANT063 Anti-P200 Pemphigoid 17
748 c INH022 Inherited Ichthyosis 17
749 PPL038 Papular Xanthoma 17
750 c PRM188 Primary Cutis Verticis Gyrata 17
751 c ALP040 Alopecia Areata 2 17
752 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 17
753 BKS002 Book Syndrome 16
754 CND001 Conidiobolomycosis 16
755 AML012 Ameloonychohypohidrotic Syndrome 16
756 ANN014 Annular Lichen Planus 16
757 HYP039 Hypodermyiasis 16
758 P PRM210 Primary Lipodystrophy 16
759 PPL044 Papular Elastorrhexis 16
760 ULC005 Ulcer of Lower Limbs 16
761 c AST032 Asthma-Related Traits 7 15
762 ODN008 Odontomicronychial Dysplasia 15
763 PMP003 Pemphigus and Fogo Selvagem 15
764 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 14
765 ICH012 Ichthyosis Hystrix Gravior 14
766 MLR026 Miliaria Crystallina 13
767 c DYS091 Dyschromatosis Universalis Hereditaria 2 13
768 c PSR034 Psoriasis 15 13
769 c RRC001 Rare Cutaneous Lupus Erythematosus 12
770 PLT010 Pili Torti Onychodysplasia 12
771 c AST035 Asthma-Related Traits 6 12
772 c RRD053 Rare Disorder with Hypertrichosis 12
773 c INF119 Infantile Mercury Poisoning 12
774 c AST033 Asthma-Related Traits 3 12
775 c HYD016 Hydroa Vacciniforme, Familial 11
776 GNT041 Genetic Lipodystrophy 11
777 LNR012 Linear Verrucous Nevus Syndrome 11
778 RCH009 Roch-Leri Mesosomatous Lipomatosis 11
779 MLR025 Miliaria Profunda 11
780 SCR010 Scrotal Angioma 11
781 c AMY014 Amyloidosis Nodular Localized Cutaneous 11
782 BLL014 Bullous Diffuse Cutaneous Mastocytosis 11
783 MXL007 Maxillary Sinus Cholesteatoma 10
784 CLC050 Calciphylaxis Cutis 10
785 WHT012 White Fibrous Papulosis of the Neck 10
786 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 10
787 FBR006 Fibroepithelial Polyp of the Anus 9
788 c AST036 Asthma-Related Traits 8 9
789 c KRT070 Keratosis, Familial Actinic 9
790 DSC010 Discrete Papular Lichen Myxedematosus 9
791 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 9
792 TLN001 Telangiectatic Glomangioma 9
793 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 8
794 DCT001 Dioctophymiasis 8
795 PNN006 Panniculitis-Induced Localized Lipodystrophy 8
796 FBR005 Fibroepithelial Polyp of Urethra 8
797 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
798 CHL020 Cholesteatoma of Attic 7
799 c RRR007 Rare Urticaria 7
800 c ATS439 Autosomal Ichthyosis Syndrome 7
801 PRR034 Pruritus, Hereditary Localized 7
802 FRG002 Ferguson-Smith Tumor 6
803 MYC091 Mycosis Fungoides and Variants 6
804 STR006 Stromal Corneal Pigmentation 6
805 P DSR041 Disorder of Multiple Glycosylation 6
806 c BCT003 Bacterial Exanthem 6
807 DRM063 Dermis Disorder 5
808 CHN007 Chondroid Syringoma of the Vulva 5
809 MLR024 Miliaria Pustulosa 5
810 STR010 Steroid Lipomatosis 5
811 P DRM064 Dermis Elastic Tissue Disorder 5
812 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
813 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
814 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
815 SYN138 Syndromic Hair Shaft Abnormality 4
816 MXD049 Mixed Dermis Disorder 4
817 ACQ062 Acquired Dermis Elastic Tissue Disorder with Increased Elastic Tissue 3
818 INH028 Inherited Non-Syndromic Ichthyosis 3
819 ATS440 Autosomal Ichthyosis Syndrome with Other Associated Signs 3
820 ISL150 Isolated Hair Shaft Abnormality 3
821 OTH022 Other Dermis Disorder 3
822 CMB056 Combined Immunodeficiency with Skin Granulomas 12
823 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 15
824 SQM006 Squamous Cell Carcinoma 60
825 MLN047 Melanoma-Pancreatic Cancer Syndrome 31
826 EPD081 Epidermoid Brain Cyst 24
827 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 12
828 BP1002 Bap1 Tumor Predisposition Syndrome 41
829 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 5
830 c CLR017 Clear Cell Sarcoma 45
831 P SML002 Small Cell Sarcoma 38
832 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
833 ALL005 Allergic Contact Dermatitis of Eyelid 7
834 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
835 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 40
836 CRR017 Curry-Jones Syndrome 35
837 RRG043 Rare Genetic Skin Disease 23
838 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 20
839 SPN025 Spinal Cord Melanoma 16
840 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 9
841 NNN006 Noninfectious Dermatoses of Eyelid 8
842 P THN009 Thanatophoric Dysplasia, Type I 59
843 PRN038 Prune Belly Syndrome 47
844 c THN010 Thanatophoric Dysplasia, Type Ii 44
845 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 39
846 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 34
847 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 32
848 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
849 TLF001 Telfer Sugar Jaeger Syndrome 9
850 c TBR025 Tuberous Sclerosis 1 74
851 P TBR001 Tuberous Sclerosis 72
852 c TBR026 Tuberous Sclerosis 2 69
853 LYM017 Lyme Disease 64
854 CMP010 Complex Regional Pain Syndrome 57
855 SQM002 Squamous Cell Papilloma 49
856 ESN015 Eosinophilic Fasciitis 48
857 CCN007 Cocoon Syndrome 46
858 VLV034 Vulva Squamous Cell Carcinoma 44
859 LYM008 Lymphangiosarcoma 42
860 FRN039 Frank-Ter Haar Syndrome 41
861 CNJ018 Conjunctival Squamous Cell Carcinoma 40
862 c CND034 Candidiasis, Familial, 2 34
863 c TRC095 Trichoepithelioma, Multiple Familial, 1 32
864 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 32
865 IMM193 Immunodeficiency 58 24
866 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 19
867 DNT019 Daentl Towsend Siegel Syndrome 13
868 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 13
869 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 5
870 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 5
871 UND005 Undifferentiated Pleomorphic Sarcoma 66
872 P INF049 Infantile Myofibromatosis 53
873 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 52
874 P CPL006 Capillary Hemangioma 52
875 c BSL024 Basal Cell Carcinoma 1 47
876 PRS063 Paresthesia 46
877 ANL017 Anal Squamous Cell Carcinoma 45
878 c MYF007 Myofibromatosis, Infantile, 1 44
879 MLR003 Melorheostosis 42
880 MND023 Mend Syndrome 42
881 OST014 Osteopoikilosis 40
882 P PRN020 Paranasal Sinus Cancer 39
883 MYX013 Myxofibrosarcoma 39
884 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 38
885 PNS010 Penis Squamous Cell Carcinoma 36
886 KRT003 Keratinizing Squamous Cell Carcinoma 32
887 MXL004 Maxillary Sinus Squamous Cell Carcinoma 29
888 GLL015 Gallbladder Squamous Cell Carcinoma 29
889 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 28
890 CPL002 Capillary Lymphangioma 25
891 PPL004 Papillary Squamous Carcinoma 24
892 THY027 Thymus Squamous Cell Carcinoma 24
893 SPR023 Supraglottis Squamous Cell Carcinoma 22
894 MLN064 Melanoma of Soft Tissue 22
895 GLT004 Glottis Squamous Cell Carcinoma 15
896 FRN005 Frontal Sinus Squamous Cell Carcinoma 15
897 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 14
898 ULR001 Ulerythema Ophryogenesis 13
899 URT034 Urethra Squamous Cell Carcinoma 12
900 TRC017 Trachea Squamous Cell Carcinoma 12
901 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
902 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 11
903 URT021 Ureter Squamous Cell Carcinoma 11
904 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
905 SBG004 Subglottis Squamous Cell Carcinoma 10
906 CRN001 Cornea Squamous Cell Carcinoma 10
907 TNG005 Tang Hsi Ryu Syndrome 8
908 ECZ001 Eczematous Dermatitis of Eyelid 5
909 XRD002 Xeroderma of Eyelid 5
910 RRD016 Rare Developmental Defect with Skin/mucosae Involvement 4
911 GNT088 Genetic Skin Vascular Disorder 3
912 c PRN030 Paranasal Sinus Cancer, Adult 3
913 OBS780 Obsolete: Ichthyosis Associated with a Cornified Cell Envelope and Epidermal Lipid Metabolism Anomaly 3
914 P BRS047 Breast Cancer 99
915 XRD010 Xeroderma Pigmentosum, Variant Type 72
916 P WSK001 Wiskott-Aldrich Syndrome 71
917 P CCK001 Cockayne Syndrome 66
918 c ATS013 Autosomal Recessive Congenital Ichthyosis 65
919 P DYS007 Dyskeratosis Congenita 64
920 SKN016 Skin Disease 64
921 DRM006 Dermatitis 63
922 PLL001 Pallister-Hall Syndrome 62
923 c LPM012 Lipomatosis, Multiple 60
924 P CTS001 Cutis Laxa 60
925 P EHL001 Ehlers-Danlos Syndrome 60
926 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59
927 DNH001 Donohue Syndrome 59
928 P ALP008 Alopecia 58
929 CHR288 Chronic Recurrent Multifocal Osteomyelitis 58
930 LYM021 Lymphadenitis 58
931 CNT047 Contact Dermatitis 58
932 P EXN002 Exanthem 58
933 DSS009 Disseminated Intravascular Coagulation 58
934 YLL002 Yellow Fever 58
935 CLL003 Cellulitis 56
936 PLM102 Palmoplantar Keratoderma, Epidermolytic 56
937 P EPD003 Epidermolysis Bullosa Simplex 55
938 GRN051 Granulomatous Disease, Chronic, X-Linked 55
939 P SPN301 Spinocerebellar Ataxia 2 55
940 KLP010 Klippel-Trenaunay-Weber Syndrome 55
941 c SPN294 Spinocerebellar Ataxia 1 55
942 DCB001 Decubitus Ulcer 54
943 ARS001 Aarskog-Scott Syndrome 54
944 P EPD016 Epidermolysis Bullosa 54
945 c LSS005 Lissencephaly 1 54
946 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
947 P MYS005 Myositis 54
948 ICH001 Ichthyosis Vulgaris 54
949 MCS006 Macs Syndrome 54
950 P ADM011 Adams-Oliver Syndrome 53
951 VLV032 Vulva Cancer 53
952 CHR100 Chronic Ulcer of Skin 53
953 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
954 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 53
955 c LYM145 Lymphatic Malformation 5 52
956 RVS001 Revesz Syndrome 52
957 c INF023 Inflammatory Breast Carcinoma 52
958 LPD016 Lipoid Proteinosis of Urbach and Wiethe 51
959 PYD002 Pyoderma 51
960 c BRS049 Breast Carcinoma in Situ 51
961 P LSS002 Lissencephaly 51
962 P PRK001 Porokeratosis 51
963 c SPN312 Spinocerebellar Ataxia 14 51
964 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 51
965 PST011 Pustulosis of Palm and Sole 51
966 c PSR023 Psoriasis 1 50
967 CCT002 Cicatricial Pemphigoid 50
968 c SPN309 Spinocerebellar Ataxia 6 50
969 P DRM007 Dermatitis Herpetiformis 50
970 c SPN291 Spinocerebellar Ataxia 7 49
971 P LPM005 Lipomatosis 49
972 EPD006 Epidermolysis Bullosa Acquisita 49
973 c LPD021 Lipodystrophy, Familial Partial, Type 3 49
974 P WHT013 White Sponge Nevus 1 49
975 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
976 HYL004 Hyaline Fibromatosis Syndrome 49
977 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 49
978 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 48
979 PST062 Pustulosis Palmaris Et Plantaris 48
980 SPT005 Spotted Fever 48
981 NNT012 Neonatal Jaundice 48
982 VRL003 Variola Major 48
983 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 48
984 c SPN314 Spinocerebellar Ataxia 10 48
985 c CCK007 Cockayne Syndrome B 48
986 PLM029 Palmoplantar Keratosis 48
987 c ALB019 Albinism, Oculocutaneous, Type Iv 47
988 P KRN004 Kernicterus 47
989 c SPN296 Spinocerebellar Ataxia 17 47
990 HRT031 Hartnup Disorder 47
991 IMP004 Impetigo 47
992 c WRD032 Waardenburg Syndrome, Type 2a 47
993 IRR003 Irritant Dermatitis 47
994 P KRT005 Keratoacanthoma 46
995 ERY004 Erysipelas 46
996 c SPN311 Spinocerebellar Ataxia 13 45
997 PGM003 Pigmentation Disease 45
998 c SPR009 Sporadic Breast Cancer 45
999 LCH011 Lichen Planopilaris 45
1000 SPR010 Sporotrichosis 45
1001 c SPN308 Spinocerebellar Ataxia 28 44
1002 PRL019 Prolidase Deficiency 44
1003 c SPN100 Spinocerebellar Ataxia 27 44
1004 CHR031 Chromoblastomycosis 44
1005 c SPN097 Spinocerebellar Ataxia 23 44
1006 c EPD030 Epidermolysis Bullosa Simplex, Localized 44
1007 ADN001 Adenosine Deaminase Deficiency 44
1008 DSC009 Discoid Lupus Erythematosus 44
1009 c LSS006 Lissencephaly 2 43
1010 FBR003 Fibrous Histiocytoma 43
1011 LYM052 Lymphomatoid Papulosis 43
1012 P HRD018 Hair Disease 43
1013 TNP001 Tinea Pedis 42
1014 ILC002 Ileocolitis 42
1015 P GRN010 Granular Cell Tumor 42
1016 c SPN305 Spinocerebellar Ataxia 11 42
1017 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
1018 MLT016 Multicentric Reticulohistiocytosis 42
1019 c SPN103 Spinocerebellar Ataxia 31 42
1020 SKN023 Skin Tag 41
1021 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 41
1022 SKN005 Skin Atrophy 41
1023 c SPN106 Spinocerebellar Ataxia 5 41
1024 P SBR004 Seborrheic Dermatitis 41
1025 c SPN290 Spinocerebellar Ataxia 15 41
1026 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 41
1027 RTC008 Reticulate Acropigmentation of Kitamura 41
1028 PRM329 Premature Aging 41
1029 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 41
1030 c PRK082 Porokeratosis 1, Multiple Types 41
1031 c ALB016 Albinism, Oculocutaneous, Type Vii 41
1032 ICH020 Ichthyosis Prematurity Syndrome 41
1033 P BLL007 Bullous Skin Disease 40
1034 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 40
1035 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 40
1036 c SPN265 Spinocerebellar Ataxia 36 39
1037 LCH009 Lichen Sclerosus 39
1038 P PHT010 Photoparoxysmal Response 1 39
1039 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 39
1040 P WLL010 Woolly Hair Syndrome 39
1041 PHT003 Phototoxic Dermatitis 39
1042 SKN006 Skin Sarcoidosis 39
1043 c SCN005 Secondary Hypertrophic Osteoarthropathy 39
1044 NDL001 Nodular Malignant Melanoma 39
1045 c HRM011 Hermansky-Pudlak Syndrome 8 39
1046 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 39
1047 c SPN304 Spinocerebellar Ataxia 8 39
1048 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 38
1049 TNC003 Tinea Corporis 38
1050 c SPN283 Spinocerebellar Ataxia 37 38
1051 ACT167 Acute Generalized Exanthematous Pustulosis 38
1052 ACN003 Acneiform Dermatitis 38
1053 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 38
1054 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 38
1055 NVS015 Nevus Comedonicus 38
1056 c ADM005 Adams-Oliver Syndrome 1 38
1057 CTN013 Cutaneous Anthrax 37
1058 c SPN293 Spinocerebellar Ataxia 12 37
1059 ANG016 Angiokeratoma 37
1060 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1061 c SPN101 Spinocerebellar Ataxia 29 37
1062 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 37
1063 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1064 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 36
1065 CHN002 Chancroid 36
1066 SPR005 Superficial Basal Cell Carcinoma 36
1067 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 36
1068 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1069 VSC012 Vesiculobullous Skin Disease 36
1070 c DRM040 Dermatitis Herpetiformis, Familial 36
1071 c SBR001 Seborrheic Infantile Dermatitis 36
1072 GRN003 Granulomatous Dermatitis 36
1073 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 36
1074 DRM003 Dermatosis Papulosa Nigra 36
1075 ACR005 Acrodermatitis 35
1076 PLM135 Palmoplantar Keratoderma, Bothnian Type 35
1077 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 35
1078 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 35
1079 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1080 MLR009 Miliaria 35
1081 PMP010 Pompholyx 35
1082 c SPN095 Spinocerebellar Ataxia 19 35
1083 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 35
1084 c SPN266 Spinocerebellar Ataxia 35 35
1085 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 35
1086 SWT003 Sweat Gland Disease 35
1087 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 35
1088 P UNC017 Uncombable Hair Syndrome 1 34
1089 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 34
1090 c SPN096 Spinocerebellar Ataxia 21 34
1091 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 34
1092 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 34
1093 PLM137 Palmoplantar Keratoderma and Woolly Hair 34
1094 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 34
1095 c CCK003 Cockayne Syndrome Type Ii 34
1096 ALL007 Allergic Urticaria 34
1097 P SPR013 Spiradenoma 34
1098 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 34
1099 SCL025 Scleromyxedema 34
1100 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 34
1101 APC003 Apocrine Adenoma 34
1102 TNC001 Tinea Cruris 33
1103 VRS002 Virus-Associated Trichodysplasia Spinulosa 33
1104 INF057 Inflammatory Linear Verrucous Epidermal Nevus 33
1105 MLN079 Melanoma in Congenital Melanocytic Nevus 33
1106 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
1107 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 33
1108 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1109 NVS007 Nevus of Ota 33
1110 c LSS010 Lissencephaly 4 33
1111 c ADM010 Adams-Oliver Syndrome 5 33
1112 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 33
1113 c CCK002 Cockayne Syndrome Type I 33
1114 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 33
1115 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 33
1116 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 33
1117 CHR463 Chronic Actinic Dermatitis 32
1118 LMY001 Leiomyoma Cutis 32
1119 c SPN099 Spinocerebellar Ataxia 26 32
1120 PPL017 Papillary Hidradenoma 32
1121 SCL017 Sclerosing Hemangioma 32
1122 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32
1123 c SPN104 Spinocerebellar Ataxia 34 32
1124 ANG007 Angiokeratoma Circumscriptum 32
1125 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1126 HDR001 Hidrocystoma 32
1127 c SPN299 Spinocerebellar Ataxia 20 32
1128 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 32
1129 c ADM007 Adams-Oliver Syndrome 2 32
1130 MLR023 Melorheostosis, Isolated 31
1131 c ADL027 Adult Dermatomyositis 31
1132 c SPN094 Spinocerebellar Ataxia 18 31
1133 ALP048 Alopecia Totalis 31
1134 c PRK080 Porokeratosis 3, Multiple Types 31
1135 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 31
1136 ANH001 Ainhum 31
1137 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 31
1138 P CLR001 Clear Cell Acanthoma 31
1139 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
1140 BSS001 Basosquamous Carcinoma 31
1141 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 31
1142 c PRP091 Porphyria Cutanea Tarda, Type I 31
1143 c SPN284 Spinocerebellar Ataxia 38 31
1144 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 31
1145 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 31
1146 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 31
1147 c SPN383 Spinocerebellar Ataxia 42 30
1148 ELS002 Elastosis Perforans Serpiginosa 30
1149 SPN011 Spongiotic Dermatitis 30
1150 c ERL004 Early Yaws 30
1151 c VHW003 Vohwinkel Syndrome, Variant Form 30
1152 c INH031 Inherited Epidermolysis Bullosa 30
1153 CTN033 Cutaneous Candidiasis 30
1154 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1155 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 30
1156 P ANG013 Angioma Serpiginosum 30
1157 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
1158 c SPN286 Spinocerebellar Ataxia 40 30
1159 PMP009 Pemphigus Erythematosus 29
1160 HYP855 Hyperpigmentation of the Skin 29
1161 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 29
1162 ECC003 Eccrine Papillary Adenoma 29
1163 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 29
1164 FRN020 Frontal Fibrosing Alopecia 29
1165 SLR005 Solar Urticaria 29
1166 c ALB017 Albinism, Oculocutaneous, Type Vi 29
1167 SPT022 Spitzoid Melanoma 29
1168 DRM008 Dermatographia 29
1169 c MLG036 Malignant Spiradenoma 28
1170 c SPN105 Spinocerebellar Ataxia 4 28
1171 ACR097 Acrodermatitis Chronica Atrophicans 28
1172 c LSS009 Lissencephaly 3 28
1173 VRR003 Verruciform Xanthoma of Skin 28
1174 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 28
1175 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 28
1176 KRN007 Kerion Celsi 28
1177 EXF003 Exfoliative Dermatitis 28
1178 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
1179 FBR015 Fibroepithelial Basal Cell Carcinoma 28
1180 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 28
1181 CNT001 Contagious Pustular Dermatitis 28
1182 c SPN247 Spinocerebellar Ataxia Type 19/22 28
1183 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1184 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
1185 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
1186 QNQ001 Quinquaud's Decalvans Folliculitis 27
1187 FXF002 Fox-Fordyce Disease 27
1188 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 27
1189 ADS001 Adiaspiromycosis 27
1190 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 27
1191 c MLG063 Malignant Dermis Tumor 27
1192 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 26
1193 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 26
1194 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
1195 HYP160 Hyperkeratosis Lenticularis Perstans 26
1196 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 26
1197 CTN010 Cutaneous Ganglioneuroma 26
1198 c PRK075 Porokeratosis 7, Multiple Types 26
1199 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 26
1200 c LRG002 Large Cell Acanthoma 26
1201 P ACN018 Acne Inversa, Familial, 1 26
1202 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26
1203 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 26
1204 c JVN011 Juvenile Dermatitis Herpetiformis 26
1205 c LSS025 Lissencephaly 5 26
1206 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 26
1207 CHR588 Chromosome 8q22.1 Duplication Syndrome 26
1208 c SPN098 Spinocerebellar Ataxia 25 26
1209 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 26
1210 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 25
1211 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1212 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 25
1213 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 25
1214 c SPN418 Spinocerebellar Ataxia 44 25
1215 BSD001 Basidiobolomycosis 25
1216 c ADM009 Adams-Oliver Syndrome 4 25
1217 CRM002 Ceruminoma 25
1218 FCL001 Facial Dermatosis 25
1219 c SPN427 Spinocerebellar Ataxia 48 25
1220 P PPL026 Papular Mucinosis 25
1221 c ADM012 Adams-Oliver Syndrome 6 25
1222 c ADM008 Adams-Oliver Syndrome 3 25
1223 c TYP003 Type I Ehlers-Danlos Syndrome 25
1224 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 25
1225 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 25
1226 GRD004 Gardner-Diamond Syndrome 24
1227 ACL002 Acalvaria 24
1228 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 24
1229 c ALP099 Alopecia, Congenital 24
1230 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
1231 c SPN421 Spinocerebellar Ataxia 47 24
1232 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 24
1233 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
1234 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1235 ECC005 Eccrine Adenocarcinoma 24
1236 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 24
1237 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1238 EPD052 Epidermolysis Bullosa Simplex Superficialis 24
1239 CRM013 Ceruminous Adenocarcinoma 24
1240 c WSK002 Wiskott-Aldrich Syndrome 2 23
1241 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 23
1242 ERY010 Erythrasma 23
1243 c XLN229 X-Linked Chondrodysplasia Punctata 2 23
1244 c LSS035 Lissencephaly 8 23
1245 c ACN016 Acne Inversa, Familial, 3 23
1246 c VRL008 Viral Exanthem 23
1247 P FML337 Familial Chilblain Lupus 23
1248 c SPN372 Spinocerebellar Ataxia 43 23
1249 HYP181 Hypertrichosis Lanuginosa, Acquired 23
1250 c SPN323 Spinocerebellar Ataxia 41 23
1251 c CCK004 Cockayne Syndrome Type Iii 23
1252 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 23
1253 ANG014 Angiokeratoma of Fordyce 23
1254 ATM016 Autoimmune Disease of Skin and Connective Tissue 23
1255 HND001 Hand Dermatosis 23
1256 DRM043 Dermochondrocorneal Dystrophy 22
1257 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 22
1258 TNB001 Tinea Barbae 22
1259 c MYF010 Myofibromatosis, Infantile, 2 22
1260 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 22
1261 SKN010 Skin Epithelioid Hemangioma 22
1262 c SPN419 Spinocerebellar Ataxia 45 22
1263 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 22
1264 QST001 Question Mark Ears, Isolated 22
1265 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 22
1266 P DRM012 Dermis Tumor 22
1267 c DRM055 Dermatitis, Atopic, 3 22
1268 HRF001 Hair Follicle Neoplasm 22
1269 PSD043 Pseudopelade of Brocq 22
1270 IMM194 Immunodeficiency 59 and Hypoglycemia 22
1271 LPS019 Lupus Erythematosus Tumidus 21
1272 HYP854 Hypopigmentation of the Skin 21
1273 ATR052 Atrophic Lichen Planus 21
1274 PHK008 Phakomatosis Cesioflammea 21
1275 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 21
1276 c SPN420 Spinocerebellar Ataxia 46 21
1277 URT052 Urticaria, Aquagenic 21
1278 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1279 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 21
1280 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 21
1281 GNR033 Generalized Eruptive Keratoacanthoma 21
1282 TLN007 Telangiectasia, Hereditary Benign 21
1283 c DWL004 Dowling-Degos Disease 4 21
1284 c FML223 Familial Keratoacanthoma 21
1285 FLY003 Flynn-Aird Syndrome 20
1286 BLL015 Bullous Lichen Planus 20
1287 CYT017 Cytophagic Histiocytic Panniculitis 20
1288 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 20
1289 PRN017 Perianal Hematoma 20
1290 c DRM057 Dermatitis, Atopic, 5 20
1291 SCL001 Scalp Dermatosis 20
1292 c CNG022 Congenital Granular Cell Tumor 20
1293 c CHL114 Chilblain Lupus 2 20
1294 BLL002 Balloon Cell Malignant Melanoma 20
1295 CTN005 Cutaneous Diphtheria 20
1296 GRM003 German Syndrome 20
1297 c WHT015 White Sponge Nevus 2 20
1298 c SPN102 Spinocerebellar Ataxia 30 20
1299 PMP013 Pemphigus Gestationis 20
1300 BLL009 Bullous Dystrophy Hereditary Macular Type 20
1301 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 20
1302 c WLL018 Woolly Hair, Autosomal Dominant 20
1303 HRP026 Herpetiform Pemphigus 20
1304 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1305 FRN028 Furunculous Myiasis 19
1306 SYN120 Syndromic Oculocutaneous Albinism 19
1307 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 19
1308 LPS018 Lupus Erythematosus Panniculitis 19
1309 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 19
1310 B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 19
1311 VLV039 Vulvar Seborrheic Keratosis 19
1312 LTN013 Late-Onset Focal Dermal Elastosis 19
1313 c PRK074 Porokeratosis 9, Multiple Types 19
1314 LNR010 Linear Lichen Planus 19
1315 XLN086 X-Linked Ehlers-Danlos Syndrome 19
1316 ELS005 Elastoma 18
1317 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 18
1318 TRC052 Trichofolliculoma 18
1319 SCL051 Scalp Defects and Postaxial Polydactyly 18
1320 STT008 Steatocystoma Multiplex with Natal Teeth 18
1321 c DRM058 Dermatitis, Atopic, 6 18
1322 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 18
1323 c SPN259 Spinocerebellar Ataxia 32 18
1324 c ATM109 Autoimmune Bullous Skin Disease 18
1325 c UNC019 Uncombable Hair Syndrome 2 18
1326 SCL044 Scalp Syndrome 18
1327 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 18
1328 OTN001 Otoonychoperoneal Syndrome 18
1329 c WLL035 Woolly Hair, Autosomal Recessive 3 18
1330 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
1331 c PRK084 Porokeratosis 6, Multiple Types 17
1332 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1333 SPR072 Superficial Pemphigus 17
1334 ERY050 Erythema Palmare Hereditarium 17
1335 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 17
1336 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 17
1337 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 17
1338 c DRM056 Dermatitis, Atopic, 4 17
1339 c SPN107 Spinocerebellar Ataxia 9 17
1340 c DRM061 Dermatitis, Atopic, 9 17
1341 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 16
1342 c WRD026 Waardenburg Syndrome, Type 2c 16
1343 c DRM060 Dermatitis, Atopic, 8 16
1344 FLL020 Follicular Infundibulum Tumor 16
1345 c HRN019 Hair-an Syndrome 16
1346 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 16
1347 BLL018 Bullous Pyoderma Gangrenosum 16
1348 GST056 Gastrocutaneous Syndrome 16
1349 ELS003 Elastoderma 16
1350 SPR145 Superficial Fibromatosis 16
1351 c AST057 Asthma-Related Traits 5 16
1352 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 16
1353 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 16
1354 c UNC018 Uncombable Hair Syndrome 3 16
1355 PNH003 Pinheiro Freire-Maia Miranda Syndrome 16
1356 PBL004 Piebald Trait with Neurologic Defects 15
1357 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 15
1358 c DRM059 Dermatitis, Atopic, 7 15
1359 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 15
1360 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 15
1361 CNG248 Congenital Smooth Muscle Hamartoma 15
1362 c VRL025 Viral Myositis 15
1363 LGD001 Leg Dermatosis 15
1364 ONY005 Onychomatricoma 15
1365 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 15
1366 CNG265 Congenital Erosive and Vesicular Dermatosis 15
1367 PHK006 Phakomatosis Pigmentokeratotica 15
1368 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 15
1369 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
1370 ERY005 Erythematosquamous Dermatosis 15
1371 LCL017 Localized Pagetoid Reticulosis 15
1372 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1373 c FML348 Familial Pityriasis Rubra Pilaris 14
1374 c PHT009 Photoparoxysmal Response 2 14
1375 ANN013 Annular Atrophic Lichen Planus 14
1376 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 14
1377 GNR027 Generalized Peeling Skin Syndrome 14
1378 SCR014 Scrotum Basal Cell Carcinoma 14
1379 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 14
1380 LNR017 Linear Focal Elastosis 14
1381 ONY004 Onychocytic Matricoma 14
1382 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 14
1383 c BCT018 Bacterial Myositis 14
1384 c PHT011 Photoparoxysmal Response 3 13
1385 ACR040 Acromelanosis 13
1386 ACQ008 Acquired Hyperkeratosis 13
1387 PLG007 Pili Gemini 13
1388 CHR175 Chromhidrosis 13
1389 PLB003 Pili Bifurcati 12
1390 VGT002 Vegetative Pyoderma Gangrenosum 12
1391 CNG238 Congenital Panfollicular Nevus 12
1392 PNS008 Penis Basal Cell Carcinoma 12
1393 c PPL045 Papular Mucinosis of Infancy 12
1394 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 12
1395 ACH007 Achenbach Syndrome 12
1396 ACR080 Acral Persistent Papular Mucinosis 11
1397 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 11
1398 CTN008 Cutaneous Liposarcoma 11
1399 DRM038 Dermotrichic Syndrome 11
1400 ONY006 Onychodystrophy-Anonychia 11
1401 CRC033 Circumscribed Palmoplantar Hypokeratosis 11
1402 PST107 Pustular Pyoderma Gangrenosum 11
1403 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 11
1404 SBC040 Subcutaneous Tissue Disease 10
1405 ATY027 Atypical Lichen Myxedematosus 10
1406 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 10
1407 DDY001 Didymosis Aplasticosebacea 10
1408 SYN136 Syndromic Lymphedema 10
1409 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1410 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 9
1411 ANG006 Angiokeratoma of Mibelli 9
1412 SLF008 Self-Healing Papular Mucinosis 9
1413 VLV014 Vulva Fibroepithelial Polyp 9
1414 ANG056 Angora Hair Nevus 8
1415 c KRN003 Kernicterus Due to Isoimmunization 8
1416 c BSL047 Basal Epidermolysis Bullosa Simplex 8
1417 P ISL140 Isolated Diffuse Palmoplantar Keratoderma 8
1418 ERY070 Erythrokeratoderma Variabilis Progressiva 8
1419 RRN013 Rare Nail Tumor 8
1420 MCD003 Mcdowall Syndrome 7
1421 PRP010 Prepuce Cancer 7
1422 BLN022 Blue Nevi, Familial Multiple 7
1423 VLV007 Vulvar Inverted Follicular Keratosis 7
1424 NDL019 Nodular Lichen Myxedematosus 7
1425 FLL021 Follicular Basal Cell Carcinoma 6
1426 RRC009 Rare Cutaneous Lichen Planus 6
1427 P DSS028 Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 6
1428 RRM007 Rare Mucosal Lichen Planus 6
1429 RRN012 Rare Nevus 6
1430 VRR002 Verrucous Keratotic Hemangioma 6
1431 CNF001 Confetti-Like Macular Atrophy 6
1432 SCL040 Scleromyxedema Without Monoclonal Gammopathy 6
1433 ISL149 Isolated Nail Anomaly 6
1434 INH027 Inherited Ichthyosis Syndromic Form 6
1435 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
1436 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 5
1437 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5
1438 VRR005 Verrucous Nevus Acanthokeratolytic 5
1439 PLQ001 Plaque-Form Urticaria Pigmentosa 5
1440 SPR146 Suprabasal Epidermolysis Bullosa Simplex 5
1441 c ATS468 Autosomal Dominant Isolated Diffuse Palmoplantar Keratoderma 5
1442 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
1443 c ACQ061 Acquired Dermis Elastic Tissue Disorder 4
1444 DSS030 Disease with Punctate Palmoplantar Keratoderma As a Major Feature 4
1445 c ATS446 Autosomal Recessive Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1446 P ATS447 Autosomal Dominant Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1447 MCP053 Mucopolysaccharidosis with Skin Involvement 4
1448 ACQ032 Acquired Kinky Hair Syndrome 4
1449 P SYS073 Systemic Disease with Skin Involvement 3
1450 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 3
1451 OTH023 Other Epidermal Disorder 3
1452 PNC131 Punctate Acrokeratoderma Freckle-Like Pigmentation 3
1453 GNT129 Genetic Dermis Elastic Tissue Disorder 3
1454 ACQ063 Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue 3
1455 ATS442 Autosomal Ichthyosis Syndrome with Fatal Disease Course 3
1456 ATS443 Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities 3
1457 SYN139 Syndromic Nail Anomaly 3
1458 HND002 Hand, Foot and Mouth Disease 52
1459 VCC001 Vaccinia 50
1460 CWP001 Cowpox 45
1461 EXN001 Exanthema Subitum 42
1462 ERY001 Erysipeloid 38
1463 CMM003 Common Wart 32
1464 HRP005 Herpetic Whitlow 28
1465 MLK001 Milker's Nodule 24
1466 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
1467 LNG039 Lung Squamous Cell Carcinoma 66
1468 VRC005 Varicose Veins 61
1469 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1470 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1471 ADN011 Adenoid Cystic Carcinoma 71
1472 BLL001 Baller-Gerold Syndrome 59
1473 OCL009 Ocular Cancer 59
1474 PRX015 Paroxysmal Extreme Pain Disorder 53
1475 LRY018 Laryngeal Squamous Cell Carcinoma 44
1476 RPD002 Rapadilino Syndrome 43
1477 BLD047 Bladder Squamous Cell Carcinoma 39
1478 CLN009 Colon Squamous Cell Carcinoma 29
1479 MDD007 Middle Ear Squamous Cell Carcinoma 24
1480 RSS027 Russell-Silver Syndrome, X-Linked 19
1481 RNL009 Renal Pelvis Squamous Cell Carcinoma 16
1482 LCR007 Lacrimal Gland Squamous Cell Carcinoma 9
1483 EXT016 External Ear Squamous Cell Carcinoma 9
1484 P NNN008 Noonan Syndrome 1 76
1485 ALL003 Allergic Rhinitis 69
1486 P SYS005 Systemic Scleroderma 68
1487 P CRD224 Cardiofaciocutaneous Syndrome 1 68
1488 CHD001 Chediak-Higashi Syndrome 68
1489 P PSD087 Pseudoxanthoma Elasticum 67
1490 P SKN015 Skin Carcinoma 67
1491 SVR097 Severe Cutaneous Adverse Reaction 66
1492 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66
1493 FML089 Familial Thoracic Aortic Aneurysm and Dissection 65
1494 BLM001 Bloom Syndrome 65
1495 PSR001 Psoriatic Arthritis 63
1496 c SCL052 Scleroderma, Familial Progressive 62
1497 c DNG003 Dengue Disease 61
1498 c LCL006 Localized Scleroderma 61
1499 LCR014 Lacrimoauriculodentodigital Syndrome 61
1500 P CND004 Candidiasis 61
1501 P PNL012 Penile Cancer 61
1502 ART001 Arterial Tortuosity Syndrome 60
1503 P PRD006 Prader-Willi Syndrome 60
1504 P WRD001 Waardenburg's Syndrome 60
1505 BRN002 Bronchiolitis 60
1506 c HRD002 Hereditary Angioedema 59
1507 SZR001 Sezary's Disease 59
1508 P LRY044 Larynx Cancer 59
1509 P PRP029 Porphyria 58
1510 ALP097 Alopecia Universalis Congenita 58
1511 KND001 Kindler Syndrome 58
1512 TMR010 Tumor Predisposition Syndrome 58
1513 DBN001 Dubin-Johnson Syndrome 58
1514 GLB001 Gilbert Syndrome 58
1515 P DNG005 Dengue Virus 57
1516 c ANG068 Angioedema, Hereditary, Type I 57
1517 P BTH005 Bethlem Myopathy 1 56
1518 ALL010 Allergic Contact Dermatitis 56
1519 VRG001 Variegate Porphyria 55
1520 P LCH002 Lichen Planus 55
1521 CHL028 Childhood Type Dermatomyositis 55
1522 PRP082 Porphyria, Congenital Erythropoietic 55
1523 P LYM025 Lymphedema 54
1524 EPD002 Epidermolytic Hyperkeratosis 54
1525 P SJG002 Sjogren-Larsson Syndrome 54
1526 P JNC001 Junctional Epidermolysis Bullosa 54
1527 c AXN009 Axenfeld-Rieger Syndrome, Type 1 53
1528 MMM001 Mammary Paget's Disease 53
1529 c CHL140 Chilblain Lupus 1 52
1530 CHL122 Cholesteatoma of Middle Ear 52
1531 ICH054 Ichthyosis, X-Linked 52
1532 P NLD001 Nail Disease 52
1533 P CTN015 Cutaneous T Cell Lymphoma 52
1534 STF002 Stiff Skin Syndrome 52
1535 NPH018 Nephrogenic Systemic Fibrosis 51
1536 c WRD033 Waardenburg Syndrome, Type 2e 51
1537 ERD001 Erdheim-Chester Disease 51
1538 BSC001 Buschke-Ollendorff Syndrome 51
1539 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 50
1540 HLC001 Holocarboxylase Synthetase Deficiency 50
1541 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 49
1542 c ACT078 Acute Porphyria 49
1543 RSD004 Rosai-Dorfman Disease 49
1544 ENC055 Encephalopathy, Ethylmalonic 49
1545 SKN013 Skin Benign Neoplasm 49
1546 P APL006 Aplasia Cutis Congenita 49
1547 P PLN008 Peeling Skin Syndrome 48
1548 MLT152 Multiple Self-Healing Squamous Epithelioma 48
1549 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 48
1550 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 47
1551 P GND004 Gonadal Dysgenesis 47
1552 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 47
1553 CTS002 Cat-Scratch Disease 47
1554 ANL022 Anal Fistula 47
1555 CNG436 Congenital Disorder of Deglycosylation 47
1556 MNL001 Monilethrix 47
1557 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 47
1558 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 47
1559 YLL001 Yellow Nail Syndrome 47
1560 SYR002 Syringocystadenoma Papilliferum 46
1561 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 46
1562 c NNN010 Noonan Syndrome 3 46
1563 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 45
1564 c DRM054 Dermatitis, Atopic, 2 45
1565 c 46X001 46 Xy Gonadal Dysgenesis 45
1566 ECZ002 Eczema Herpeticum 44
1567 ICH002 Ichthyosis Bullosa of Siemens 44
1568 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44
1569 P FRN036 Frontonasal Dysplasia 1 44
1570 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 44
1571 LYM029 Lymphedema-Distichiasis Syndrome 43
1572 c WRD031 Waardenburg Syndrome, Type 3 43
1573 BZX001 Bazex Syndrome 43
1574 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 43
1575 SBC011 Sebaceous Adenocarcinoma 43
1576 c 46X002 46 Xx Gonadal Dysgenesis 43
1577 CTN004 Cutaneous Fibrous Histiocytoma 43
1578 c JVN003 Juvenile Xanthogranuloma 43
1579 MYC013 Mycobacterium Abscessus 42
1580 WYR002 Weyers Acrofacial Dysostosis 42
1581 P DWL001 Dowling-Degos Disease 42
1582 c WRD019 Waardenburg Syndrome, Type 4b 42
1583 NDL009 Nodular Basal Cell Carcinoma 42
1584 RTT001 Ritter's Disease 42
1585 c NNN013 Noonan Syndrome 6 41
1586 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 41
1587 CSL001 Causalgia 41
1588 BSL006 Basaloid Squamous Cell Carcinoma 41
1589 TNF001 Tinea Favosa 41
1590 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 41
1591 TRC077 Trichomegaly 41
1592 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 41
1593 c NNN011 Noonan Syndrome 4 41
1594 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 40
1595 MLT018 Multiple Carboxylase Deficiency 40
1596 P SYR003 Syringoma 40
1597 SWT002 Sweat Gland Cancer 40
1598 NRD001 Neurodermatitis 40
1599 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 40
1600 PMP002 Pemphigoid Gestationis 40
1601 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 40
1602 LPM010 Lipomatosis, Multiple Symmetric 39
1603 MCP033 Mucopolysaccharidoses 39
1604 BSL044 Basal Cell Carcinoma, Infundibulocystic 39
1605 c ALB015 Albinism, Oculocutaneous, Type V 39
1606 PGM002 Pigmented Basal Cell Carcinoma 39
1607 CMP007 Complement Component 5 Deficiency 39
1608 GCH018 Gaucher Disease, Perinatal Lethal 39
1609 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 38
1610 DRM009 Dermatomycosis 38
1611 c PLN018 Peeling Skin Syndrome 2 38
1612 c NNN024 Noonan Syndrome 9 38
1613 LSS001 Loiasis 38
1614 PRP005 Parapsoriasis 38
1615 SBC017 Sebaceous Gland Disease 38
1616 c HMN027 Hemangioma, Capillary Infantile 38
1617 c WRD024 Waardenburg Syndrome, Type 4c 38
1618 c HRD007 Hereditary Lymphedema 38
1619 PRR013 Prurigo Nodularis 38
1620 c ACQ012 Acquired Angioedema 37
1621 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 37
1622 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 37
1623 c NNN021 Noonan Syndrome 8 37
1624 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1625 MYP001 Myoepithelioma 36
1626 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36
1627 TYL002 Tylosis with Esophageal Cancer 36
1628 SBC009 Sebaceous Adenoma 36
1629 c NNN012 Noonan Syndrome 5 36
1630 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 36
1631 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
1632 c PLN017 Peeling Skin Syndrome 1 36
1633 WNC001 Winchester Syndrome 35
1634 HNS001 Hansen's Disease 35
1635 c HRM010 Hermansky-Pudlak Syndrome 7 35
1636 c PRM301 Primary Cutaneous T-Cell Lymphoma 35
1637 LBM003 Lobomycosis 35
1638 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 35
1639 c NNN025 Noonan Syndrome 10 35
1640 SWT004 Sweat Gland Neoplasm 35
1641 c NNN020 Noonan Syndrome 7 34
1642 OMS001 Omsk Hemorrhagic Fever 34
1643 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 34
1644 GTT002 Guttate Psoriasis 34
1645 c NNN009 Noonan Syndrome 2 34
1646 MLG141 Malignant Atrophic Papulosis 34
1647 OCL039 Oculoectodermal Syndrome 34
1648 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
1649 MLG007 Malignant Skin Fibrous Histiocytoma 33
1650 DFN007 Deafness Enamel Hypoplasia Nail Defects 33
1651 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 33
1652 c CNG439 Congenital Lymphedema 33
1653 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1654 SKN001 Skin Angiosarcoma 33
1655 c HRD206 Hereditary Lymphedema Ii 32
1656 NRT002 Neurotic Excoriation 32
1657 SBC018 Sebaceous Gland Neoplasm 32
1658 SNL003 Senile Angioma 32
1659 DFF038 Diffuse Palmoplantar Keratoderma 32
1660 c BTH006 Bethlem Myopathy 2 32
1661 SLF015 Self-Improving Collodion Baby 32
1662 CHN019 Chand Syndrome 31
1663 AGG003 Aggressive Digital Papillary Adenocarcinoma 31
1664 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 31
1665 ACR004 Acrokeratosis Verruciformis 31
1666 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 31
1667 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 31
1668 GRV012 Grover's Disease 31
1669 ORL022 Oral Erosive Lichen 31
1670 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 31
1671 DRF001 Dirofilariasis 31
1672 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 30
1673 EYL006 Eyelid Benign Neoplasm 30
1674 OCC001 Occupational Dermatitis 30
1675 STR096 Striate Palmoplantar Keratoderma 30
1676 CLR015 Clear Cell Basal Cell Carcinoma 30
1677 ERY069 Erythrokeratoderma ''en Cocardes'' 30
1678 c WRD010 Waardenburg Syndrome Type 4 30
1679 c ANG045 Angioedema, Hereditary, Type Iii 30
1680 c CND033 Candidiasis, Familial, 1 30
1681 OCL033 Oculocerebral Syndrome with Hypopigmentation 30
1682 RNG003 Ring Dermoid of Cornea 29
1683 HPR006 Heparin Cofactor Ii Deficiency 29
1684 MTT001 Metatypical Basal Cell Carcinoma 29
1685 ATM076 Autoimmune Retinopathy 29
1686 c FRN033 Frontonasal Dysplasia 2 28
1687 SKN011 Skin Pilomatrix Carcinoma 28
1688 ERY014 Erythrokeratoderma 28
1689 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 28
1690 ATR054 Atrophoderma Vermiculata 28
1691 SKN018 Skin Hemangioma 28
1692 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 27
1693 HRD216 Hereditary Palmoplantar Keratoderma 27
1694 MDD015 Mid-Dermal Elastolysis 27
1695 MCP039 Mucoepithelial Dysplasia, Hereditary 27
1696 CTN027 Cutaneous Mastocytoma 27
1697 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 27
1698 CTN012 Cutaneous Leiomyosarcoma 27
1699 FCL029 Focal Palmoplantar Keratoderma 27
1700 LSN002 Loose Anagen Hair Syndrome 26
1701 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 26
1702 c PHL010 Peho-Like Syndrome 26
1703 c HRD202 Hereditary Lymphedema I 26
1704 APC005 Apocrine Sweat Gland Neoplasm 26
1705 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 26
1706 MLG032 Malignant Granular Cell Myoblastoma 26
1707 PGM030 Pigmentation Anomaly of the Skin 26
1708 ACR034 Acrogeria, Gottron Type 26
1709 c CRD163 Cardiofaciocutaneous Syndrome 2 26
1710 RDT005 Radiation Induced Cancer 26
1711 c FRN032 Frontonasal Dysplasia 3 26
1712 P ADL037 Adult Xanthogranuloma 25
1713 c CND036 Candidiasis, Familial, 4 25
1714 P FCL023 Focal Facial Dermal Dysplasia 25
1715 TNP002 Tinea Profunda 25
1716 CHL075 Cheilitis Glandularis 25
1717 MRP002 Morpheaform Basal Cell Carcinoma 25
1718 c FCL046 Focal Facial Dermal Dysplasia 4 25
1719 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 25
1720 c CRD167 Cardiofaciocutaneous Syndrome 4 24
1721 GNR023 Generalized Eruptive Histiocytosis 24
1722 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 24
1723 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 24
1724 P PNC113 Punctate Palmoplantar Keratoderma 24
1725 EPD010 Epidermal Appendage Tumor 24
1726 TNM002 Tinea Manuum 24
1727 OCL030 Oculoauriculofrontonasal Syndrome 24
1728 GNT018 Gianotti Crosti Syndrome 24
1729 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1730 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 24
1731 c CND025 Candidiasis, Familial, 8 24
1732 MRN005 Marie Unna Congenital Hypotrichosis 24
1733 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 24
1734 c CRD164 Cardiofaciocutaneous Syndrome 3 24
1735 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 24
1736 NVD003 Nevoid Hypermelanosis, Linear and Whorled 24
1737 CLL039 Collagenosis, Familial Reactive Perforating 23
1738 c CND031 Candidiasis, Familial, 9 23
1739 LNR005 Linear Scleroderma 23
1740 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 23
1741 c PNL017 Penile Cancer, Adult 23
1742 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 23
1743 ATP003 Atp6v0a2-Related Cutis Laxa 23
1744 INT189 Interstitial Granulomatous Dermatitis with Arthritis 23
1745 PLM177 Pilomatrix Carcinoma 22
1746 DPT001 Dipetalonemiasis 22
1747 JNT001 Joint Laxity, Familial 22
1748 ERS002 Erosive Pustular Dermatosis of the Scalp 22
1749 LNT008 Lentiginosis, Inherited Patterned 21
1750 c CND037 Candidiasis, Familial, 6 21
1751 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 21
1752 MTH082 Methemoglobinemia and Ambiguous Genitalia 21
1753 CTN025 Cutaneous Collagenous Vasculopathy 21
1754 ACK001 Ackerman Syndrome 21
1755 EPD082 Epidermolytic Nevus 21
1756 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 20
1757 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 20
1758 P ACR049 Acrospiroma 20
1759 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 20
1760 c MLG048 Malignant Acrospiroma 20
1761 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 20
1762 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1763 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 20
1764 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 20
1765 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1766 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
1767 GRW032 Growth Factors, Combined Defect of 20
1768 CLL041 Collagenoma, Familial Cutaneous 19
1769 DRM042 Dermatoosteolysis, Kirghizian Type 19
1770 ADM002 Adamantinoid Basal Cell Epithelioma 19
1771 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 19
1772 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 19
1773 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
1774 PPV001 Popov-Chang Syndrome 19
1775 ACT160 Actinic Lichen Planus 19
1776 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 19
1777 CLL040 Callosities, Hereditary Painful 18
1778 ECC006 Eccrine Mixed Tumor of Skin 18
1779 CTN031 Cutaneous Pseudolymphoma 18
1780 TLN012 Telangiectasia Macularis Eruptiva Perstans 18
1781 KRT066 Keratosis, Focal Palmoplantar and Gingival 18
1782 c NNN029 Noonan Syndrome 11 18
1783 ALL002 Allergic Cutaneous Vasculitis 18
1784 HYP489 Hypotrichosis-Deafness Syndrome 18
1785 c CND027 Candidiasis, Familial, 3 18
1786 P ALP068 Alopecia-Intellectual Disability Syndrome 18
1787 VSC009 Vascular Skin Disease 18
1788 P PRM145 Primary Anetoderma 18
1789 WRT005 Warty Dyskeratoma 18
1790 DSC014 Discoid Fibromas, Familial Multiple 18
1791 CNC020 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 18
1792 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
1793 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 17
1794 PKL003 Poikiloderma, Hereditary Sclerosing 17
1795 ERY049 Erythroderma, Lethal Congenital 17
1796 ANL013 Anal Margin Basal Cell Carcinoma 17
1797 TRC114 Trichodental Dysplasia 17
1798 RDR002 Rodrigues Blindness 17
1799 AQG004 Aquagenic Syringeal Acrokeratoderma 17
1800 c CHR471 Chronic Hepatic Porphyria 16
1801 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16
1802 CRN224 Craniofaciofrontodigital Syndrome 16
1803 PRN056 Parana Hard-Skin Syndrome 16
1804 LNR009 Linear Atrophoderma of Moulin 16
1805 DRM019 Dermatoleukodystrophy 16
1806 HYP182 Hypertrichosis, Anterior Cervical 16
1807 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16
1808 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1809 FCL040 Focal Acral Hyperkeratosis 16
1810 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 15
1811 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 15
1812 P NNP004 Nonphotosensitive Trichothiodystrophy 15
1813 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1814 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 15
1815 c PLN016 Peeling Skin Syndrome Type a 15
1816 ACR078 Acral Self-Healing Collodion Baby 15
1817 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1818 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 15
1819 CRN075 Crandall Syndrome 15
1820 FLT007 Flotch Syndrome 15
1821 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
1822 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 15
1823 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
1824 HMT019 Hematohidrosis 15
1825 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 15
1826 c SYR009 Syringomas, Multiple 14
1827 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 14
1828 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1829 JSS002 Jessner Lymphocytic Infiltration of the Skin 14
1830 HRD035 Hair Defect with Photosensitivity and Mental Retardation 14
1831 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
1832 TRC111 Trichodysplasia-Xeroderma 14
1833 ACR120 Acrokeratoderma 13
1834 EPD090 Epidermal Disease 13
1835 HYP742 Hyperpigmentation of Eyelids 13
1836 P SKN009 Skin Granular Cell Tumor 13
1837 SBC013 Sebaceous Basal Cell Carcinoma 13
1838 P DFN296 Deafness-Onychodystrophy Syndrome 13
1839 ATR020 Atrophoderma of Pierini and Pasini 13
1840 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 13
1841 c LCH017 Lichen Planus, Familial 13
1842 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 13
1843 PRM233 Primary Cutaneous Plasmacytosis 12
1844 RRP024 Rare Photodermatosis 12
1845 ANN015 Anonychia with Flexural Pigmentation 12
1846 CHL021 Cholesteatoma of External Ear 12
1847 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 12
1848 c RRL001 Rare Lichen Planus 12
1849 PGM026 Pgm3-Cdg 12
1850 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
1851 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
1852 c ACQ036 Acquired Angioedema Type 2 12
1853 ISL136 Isolated Punctate Palmoplantar Keratoderma 11
1854 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 11
1855 SKN017 Skin Glomangioma 11
1856 GNN001 Genuine Diffuse Phlebectasia 11
1857 c HRD203 Hereditary Lymphedema Id 11
1858 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 10
1859 LBM004 Labium Majus Cancer 10
1860 CHN047 Chondroectodermal Dysplasia with Night Blindness 10
1861 c LRY009 Larynx Carcinoma in Situ 10
1862 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 10
1863 SKN004 Skin Amelanotic Melanoma 10
1864 ODN004 Odonto Onycho Dysplasia with Alopecia 9
1865 ACN008 Acantholytic Squamous Cell Skin Carcinoma 9
1866 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
1867 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 9
1868 DRM002 Dermoid Cyst of Skin 9
1869 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
1870 9Q3002 9q33.3q34.11 Microdeletion Syndrome 9
1871 ISL103 Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 9
1872 HYP046 Hypopigmentation of Eyelid 8
1873 ACR075 Acral Dystrophic Epidermolysis Bullosa 8
1874 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1875 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 8
1876 NDL018 Nodular Urticaria Pigmentosa 8
1877 HRD213 Hereditary Poikiloderma 8
1878 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8
1879 c ACQ035 Acquired Angioedema Type 1 8
1880 MLG109 Malignant Melanoma of the Mucosa 7
1881 c PLN027 Peeling Skin Syndrome Type C 7
1882 CLR010 Clear Cell Squamous Cell Skin Carcinoma 7
1883 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1884 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 7
1885 c HRD100 Hereditary Lymphedema Ic 7
1886 c HRD204 Hereditary Lymphedema Ia 7
1887 BNG008 Benign Dermal Neurilemmoma 7
1888 c MLG050 Malignant Granular Cell Skin Tumor 7
1889 ECS003 Eec Syndrome and Related Disorders 7
1890 PRN012 Perianal Skin Paget's Disease 6
1891 c HRD205 Hereditary Lymphedema Ib 6
1892 SQM001 Squamous Cell Papilloma of Skin 6
1893 SKN007 Skin Meningioma 6
1894 ISL141 Isolated Focal Palmoplantar Keratoderma 6
1895 PHK010 Phakomatosis Spilorosea 6
1896 PLN004 Plantar Verrucous Skin Carcinoma 6
1897 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1898 c ATM107 Autoimmune Disease with Skin Involvement 6
1899 NVD002 Nevada Syndrome 6
1900 P DSS029 Disease with Focal Palmoplantar Keratoderma As a Major Feature 6
1901 MRG017 Marginal Papular Palmoplantar Keratoderma 6
1902 c SJG003 Sjogren-Larsson-Like Syndrome 5
1903 TYP022 Typical Urticaria Pigmentosa 5
1904 c ATS444 Autosomal Recessive Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1905 ATS445 Autosomal Dominant Diffuse Mutilating Palmoplantar Keratoderma 5
1906 CNG581 Congenital Disorder of Glycosylation with Skin Involvement 5
1907 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1908 c ATS464 Autosomal Dominant Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1909 ATS465 Autosomal Dominant Disease Associated with Focal Palmoplantar Keratoderma As a Major Feature 5
1910 c ATS466 Autosomal Recessive Isolated Diffuse Palmoplantar Keratoderma 5
1911 c ATS467 Autosomal Recessive Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1912 MTB014 Metabolic Disease with Skin Involvement 4
1913 TXC023 Toxic Dermatosis 4
1914 EPD089 Epidermal Appendage Anomaly 4
1915 OTH019 Other Metabolic Disease with Skin Involvement 4
1916 ATN019 Autoinflammatory Syndrome with Skin Involvement 3
1917 OTH020 Other Acquired Skin Disease 3
1918 UNC024 Unclassified Genetic Skin Disorder 3
1919 ANT024 Anthrax Disease 56
1920 P RBL001 Rubella 56
1921 MLL001 Molluscum Contagiosum 49
1922 c CNG124 Congenital Rubella 44
1923 SPR020 Superficial Mycosis 35
1924 GRN005 Granuloma Inguinale 33
1925 P LYN001 Lynch Syndrome 77
1926 c LYN004 Lynch Syndrome I 61
1927 HYP780 Hypoadrenocorticism, Familial 60
1928 c SYS001 Systemic Lupus Erythematosus 88
1929 SKN019 Skin Melanoma 68
1930 c BSL007 Basal Cell Carcinoma 68
1931 P DRM053 Dermatitis, Atopic 68
1932 P PRP003 Porphyria Cutanea Tarda 66
1933 KHL003 Kohlschutter-Tonz Syndrome 63
1934 GT001 Gout 63
1935 BLL006 Bullous Pemphigoid 63
1936 MNK001 Menkes Disease 62
1937 P LPS004 Lupus Erythematosus 62
1938 RTH001 Rothmund-Thomson Syndrome 62
1939 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 62
1940 P ANP001 Anaplastic Large Cell Lymphoma 62
1941 DPH001 Diphtheria 61
1942 c ADL017 Adult T-Cell Leukemia 59
1943 c ALB021 Albinism, Oculocutaneous, Type Ii 59
1944 c ORF037 Orofaciodigital Syndrome I 59
1945 NTH001 Netherton Syndrome 59
1946 CHN055 Chanarin-Dorfman Syndrome 58
1947 ECT006 Ectodermal Dysplasia 58
1948 P FML052 Familial Cold Autoinflammatory Syndrome 58
1949 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 57
1950 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1951 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56
1952 c ORF040 Orofaciodigital Syndrome Viii 56
1953 P PMP001 Pemphigus 56
1954 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 56
1955 c BNG091 Benign Chronic Pemphigus 56
1956 OCL020 Ocular Cicatricial Pemphigoid 55
1957 P SML001 Small Cell Carcinoma 55
1958 CYS005 Cysticercosis 55
1959 HYP691 Hypomelanosis of Ito 55
1960 SML019 Smallpox 55
1961 DYS164 Dyskeratosis Congenita, X-Linked 54
1962 c ACT020 Acute T Cell Leukemia 54
1963 NLP001 Nail-Patella Syndrome 54
1964 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
1965 P WLL002 Weill-Marchesani Syndrome 54
1966 P ORF001 Orofaciodigital Syndrome 53
1967 P AMY084 Amyloidosis, Finnish Type 53
1968 c ALB010 Albinism, Oculocutaneous, Type Ib 53
1969 PYD001 Pyoderma Gangrenosum 53
1970 SKN022 Skin Squamous Cell Carcinoma 53
1971 STR008 Strongyloidiasis 53
1972 FCL009 Focal Dermal Hypoplasia 53
1973 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1974 P PRM018 Primary Hypertrophic Osteoarthropathy 52
1975 c ORF034 Orofaciodigital Syndrome Vi 52
1976 ACR014 Acral Lentiginous Melanoma 52
1977 RST011 Restrictive Dermopathy, Lethal 51
1978 CHR105 Choreoacanthocytosis 51
1979 FML063 Familial Glucocorticoid Deficiency 51
1980 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 50
1981 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 50
1982 c HMN021 Human T-Cell Leukemia Virus Type 1 50
1983 c PSR021 Psoriasis 14, Pustular 50
1984 P INT099 Intrahepatic Cholestasis of Pregnancy 50
1985 NXS001 Naxos Disease 49
1986 P TCL004 T-Cell Leukemia 48
1987 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48
1988 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 48
1989 ALB002 Albinism 48
1990 SCH038 Schopf-Schulz-Passarge Syndrome 48
1991 P HMR005 Hemorrhoid 47
1992 WDM005 Wiedemann-Rautenstrauch Syndrome 46
1993 BRR012 Berardinelli-Seip Congenital Lipodystrophy 46
1994 IRN004 Iron-Refractory Iron Deficiency Anemia 45
1995 ERY017 Erythema Elevatum Diutinum 45
1996 KRT013 Keratolytic Winter Erythema 45
1997 SBC012 Subcorneal Pustular Dermatosis 45
1998 LRY022 Laryngoonychocutaneous Syndrome 45
1999 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 45
2000 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 45
2001 c LRG001 Large Cell Carcinoma 45
2002 SPH001 Sapho Syndrome 44
2003 STT007 Steatocystoma Multiplex 44
2004 ORL015 Oral Squamous Cell Carcinoma 44
2005 ACT164 Actinic Prurigo 44
2006 ART035 Arterial Calcification of Infancy 44
2007 c LPD019 Lipodystrophy, Partial, Acquired 44
2008 P VHW001 Vohwinkel Syndrome 44
2009 KMR001 Kimura Disease 43
2010 FNT005 Fontaine Progeroid Syndrome 43
2011 ECC004 Eccrine Porocarcinoma 43
2012 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 42
2013 ADP001 Adiposis Dolorosa 42
2014 BRT059 Bartsocas-Papas Syndrome 41
2015 TRN021 Transaldolase Deficiency 41
2016 c FML253 Familial Cold Autoinflammatory Syndrome 3 41
2017 CLD014 Cole Disease 41
2018 EPD029 Epidermolysis Bullosa Simplex, Generalized 41
2019 MLD006 Mal De Meleda 41
2020 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 40
2021 LNR006 Linear Iga Disease 40
2022 P YWS001 Yaws 40
2023 c FML117 Familial Cold Autoinflammatory Syndrome 2 40
2024 c BSL011 Basal Cell Carcinoma, Multiple 40
2025 FML091 Familial Tumoral Calcinosis 40
2026 CYL004 Cylindromatosis, Familial 39
2027 c HRM012 Hermansky-Pudlak Syndrome 9 39
2028 c SYS043 Systemic Lupus Erythematosus 1 39
2029 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 39
2030 c PRM327 Primary Lymphedema 39
2031 HDR004 Hidradenoma 38
2032 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38
2033 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38
2034 c HMN022 Human T-Cell Leukemia Virus Type 2 38
2035 EPD022 Epidermolysis Bullosa Pruriginosa 38
2036 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
2037 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 37
2038 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 37
2039 c ORF035 Orofaciodigital Syndrome Iv 36
2040 WRN004 Wrinkly Skin Syndrome 36
2041 OLV004 Oliver-Mcfarlane Syndrome 36
2042 c WLL037 Weill-Marchesani Syndrome 2 36
2043 c SYS061 Systemic Lupus Erythematosus 16 36
2044 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 36
2045 c PRM299 Primary Cutaneous B-Cell Lymphoma 36
2046 c SKN012 Skin Carcinoma in Situ 35
2047 c LKM004 Leukemia, B-Cell, Chronic 35
2048 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 35
2049 c LKM005 Leukemia, T-Cell, Chronic 35
2050 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 35
2051 ODN009 Odontoonychodermal Dysplasia 35
2052 ECC002 Eccrine Acrospiroma 35
2053 GPS001 Gapo Syndrome 35
2054 ADN015 Adenoid Basal Cell Carcinoma 34
2055 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
2056 MCR183 Microcephaly-Capillary Malformation Syndrome 34
2057 P INH011 Inherited Bone Marrow Failure Syndromes 34
2058 NTR042 Neutrophilic Dermatosis, Acute Febrile 34
2059 LMB008 Limb-Mammary Syndrome 34
2060 c CLL013 Cell Type Cancer 33
2061 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
2062 c WLL036 Weill-Marchesani Syndrome 1 33
2063 TRC118 Trichodentoosseous Syndrome 33
2064 c WLL040 Weill-Marchesani Syndrome 4 33
2065 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 32
2066 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 32
2067 TRN029 Transient Bullous Dermolysis of the Newborn 32
2068 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
2069 c ORF038 Orofaciodigital Syndrome Iii 32
2070 c ORF033 Orofaciodigital Syndrome V 32
2071 CFL005 Cafe-Au-Lait Spots, Multiple 31
2072 P ALB003 Albinism-Deafness Syndrome 31
2073 PRG023 Progeroid Short Stature with Pigmented Nevi 31
2074 c FML324 Familial Porphyria Cutanea Tarda 31
2075 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 30
2076 KPP002 Keppen-Lubinsky Syndrome 30
2077 SHH004 Shaheen Syndrome 30
2078 SKN024 Skin Fragility-Woolly Hair Syndrome 30
2079 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 30
2080 c BNM010 Bone Marrow Failure Syndrome 1 30
2081 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 29
2082 CLR007 Colorado Tick Fever 29
2083 KRT047 Keratosis Pilaris Atrophicans 29
2084 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 29
2085 HYP346 Hypotrichosis and Recurrent Skin Vesicles 29
2086 P FML313 Familial Progressive Hyperpigmentation 29
2087 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 29
2088 HRZ001 Huriez Syndrome 29
2089 RMB001 Rombo Syndrome 29
2090 JHN004 Johnson Neuroectodermal Syndrome 28
2091 INF027 Infiltrative Basal Cell Carcinoma 28
2092 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 28
2093 c ORF036 Orofaciodigital Syndrome Xiv 28
2094 CYS004 Cystic Basal Cell Carcinoma 28
2095 NBL001 Nablus Mask-Like Facial Syndrome 27
2096 c ORF043 Orofaciodigital Syndrome Ix 27
2097 BSN001 Basan Syndrome 27
2098 c CNG133 Congenital Varicella Syndrome 27
2099 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 27
2100 GRN032 Granulomatous Slack Skin Disease 27
2101 ICH035 Ichthyosis, Hystrix-Like, with Deafness 27
2102 IMM153 Immunodeficiency 51 27
2103 NCR009 Necrobiotic Xanthogranuloma 27
2104 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 26
2105 SKN002 Skin Lipoma 26
2106 SRC003 Sarcomatoid Basal Cell Carcinoma 26
2107 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 26
2108 c ORF046 Orofaciodigital Syndrome Xvi 26
2109 CTN009 Cutaneous Adenocystic Carcinoma 26
2110 c WLL038 Weill-Marchesani Syndrome 3 25
2111 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 25
2112 c FML270 Familial Cold Autoinflammatory Syndrome 4 25
2113 c SYS038 Systemic Lupus Erythematosus 2 25
2114 SKN021 Skin Sarcoma 25
2115 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
2116 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 25
2117 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
2118 c BNM013 Bone Marrow Failure Syndrome 3 24
2119 c BSL034 Basal Cell Carcinoma 7 24
2120 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 24
2121 c ORF042 Orofaciodigital Syndrome Xi 24
2122 ECC007 Eccrine Sweat Gland Cancer 24
2123 c BNM032 Bone Marrow Failure Syndrome 4 23
2124 c ORF052 Orofaciodigital Syndrome Xviii 23
2125 ECT073 Ectodermal Dysplasia/short Stature Syndrome 23
2126 c BNM011 Bone Marrow Failure Syndrome 2 22
2127 c ORF041 Orofaciodigital Syndrome X 22
2128 VLV002 Vulva Basal Cell Carcinoma 22
2129 c XLN227 X-Linked Chondrodysplasia Punctata 1 22
2130 c SYS040 Systemic Lupus Erythematosus 10 22
2131 PGM028 Pigmented Purpuric Dermatosis 22
2132 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 22
2133 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
2134 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 22
2135 c ORF051 Orofaciodigital Syndrome Xvii 22
2136 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
2137 ECC001 Eccrine Papillary Adenocarcinoma 21
2138 c FML249 Familial Amyloidosis, Finnish Type 21
2139 c SYS046 Systemic Lupus Erythematosus 3 21
2140 FML351 Familiar Chronic Mucocutaneous Candidiasis 21
2141 c SYS053 Systemic Lupus Erythematosus 5 21
2142 TBS009 Teebi-Shaltout Syndrome 21
2143 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
2144 c BNM033 Bone Marrow Failure Syndrome 5 21
2145 c SYS069 Systemic Lupus Erythematosus 6 21
2146 c ORF045 Orofaciodigital Syndrome Xv 21
2147 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
2148 c SYS051 Systemic Lupus Erythematosus 4 20
2149 DRM023 Dermoodontodysplasia 20
2150 c SYS041 Systemic Lupus Erythematosus 9 20
2151 ZNC006 Zinc, Elevated Plasma 20
2152 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 19
2153 PRM314 Primary Cutaneous Lymphoma 18
2154 OCL057 Oculotrichodysplasia 18
2155 LYM123 Lymphedema-Hypoparathyroidism Syndrome 18
2156 ANG063 Angiolipomatosis, Familial 18
2157 MCR016 Micronodular Basal Cell Carcinoma 18
2158 c SYS065 Systemic Lupus Erythematosus 11 18
2159 VLV046 Vulvovaginal Gingival Syndrome 18
2160 CTN002 Cutaneous Mucoepidermoid Carcinoma 17
2161 c BSL027 Basal Cell Carcinoma 4 17
2162 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 17
2163 c SYS055 Systemic Lupus Erythematosus 12 16
2164 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 16
2165 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
2166 CLS055 Classic Pyoderma Gangrenosum 16
2167 c SYS048 Systemic Lupus Erythematosus 8 16
2168 c SYS052 Systemic Lupus Erythematosus 13 16
2169 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 16
2170 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
2171 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
2172 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
2173 SGN001 Signet Ring Basal Cell Carcinoma 15
2174 CHM001 Cahmr Syndrome 15
2175 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15
2176 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
2177 ANL016 Anal Margin Carcinoma 15
2178 c SYS047 Systemic Lupus Erythematosus 7 15
2179 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
2180 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
2181 c BSL028 Basal Cell Carcinoma 5 14
2182 c ORF039 Orofaciodigital Syndrome Vii 14
2183 c BSL025 Basal Cell Carcinoma 2 14
2184 c BSL029 Basal Cell Carcinoma 6 14
2185 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
2186 c BSL026 Basal Cell Carcinoma 3 13
2187 c SYS045 Systemic Lupus Erythematosus 14 13
2188 c ANP011 Anaplastic Small Cell Lymphoma 13
2189 c FML205 Familial Anetoderma 13
2190 HLL006 Halal Setton Wang Syndrome 13
2191 ORL024 Oral and Digital Anomalies with Ichthyosis 13
2192 c SYS067 Systemic Lupus Erythematosus 15 13
2193 c HMN023 Human T-Cell Leukemia Virus Type 3 12
2194 c ORF006 Orofaciodigital Syndrome 13 12
2195 13Q001 13q12.3 Microdeletion Syndrome 12
2196 c ORF005 Orofaciodigital Syndrome 12 12
2197 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 12
2198 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 11
2199 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 11
2200 ANL007 Anal Margin Squamous Cell Carcinoma 11
2201 LBM005 Labia Minora Cancer 11
2202 BSL002 Basaloid Squamous Cell Skin Carcinoma 10
2203 EXT018 External Ear Basal Cell Carcinoma 10
2204 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 10
2205 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
2206 c DFN345 Deafness, Congenital, with Total Albinism 9
2207 ALP049 Alopecia Antibody Deficiency 9
2208 MLG010 Malignant Eyelid Melanoma 9
2209 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 8
2210 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 8
2211 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 8
2212 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8
2213 P VRC007 Varicella, Severe Recurrent 7
2214 SKN008 Skin Glomus Tumor 7
2215 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 7
2216 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 7
2217 PHK009 Phakomatosis Cesiomarmorata 7
2218 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
2219 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
2220 IMM214 Immune Deficiency with Skin Involvement 4
2221 RRS013 Rare Skin Tumor or Hamartoma 4
2222 P ART022 Arthritis 71
2223 MSL001 Measles 61
2224 c TRN014 Transient Arthritis 34
2225 PNT003 Pinta Disease 32
2226 P NRF023 Neurofibromatosis, Type Ii 77
2227 c HPT073 Hepatitis C Virus 74
2228 c HYP836 Hypercholesterolemia, Familial, 1 74
2229 c NRF024 Neurofibromatosis, Type I 72
2230 BSL036 Basal Cell Nevus Syndrome 70
2231 P MLN066 Melanoma, Cutaneous Malignant 1 69
2232 P HPT021 Hepatitis 69
2233 CHL065 Cholangiocarcinoma 68
2234 FBR012 Fabry Disease 68
2235 c FML021 Familial Hypercholesterolemia 67
2236 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
2237 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
2238 MST024 Mastocytosis, Cutaneous 65
2239 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64
2240 P LPR002 Leopard Syndrome 64
2241 P PSR002 Psoriasis 63
2242 c HPT016 Hepatitis B 63
2243 c ATM011 Autoimmune Hepatitis 63
2244 INC021 Incontinentia Pigmenti 62
2245 RFS006 Refsum Disease, Classic 62
2246 MRK001 Merkel Cell Carcinoma 62
2247 c HPT001 Hepatitis C 62
2248 GRG001 Greig Cephalopolysyndactyly Syndrome 61
2249 P DST002 Distal Arthrogryposis 61
2250 BLS001 Blau Syndrome 61
2251 CRT002 Cartilage-Hair Hypoplasia 60
2252 P CRN108 Cranioectodermal Dysplasia 1 60
2253 c HPT003 Hepatitis a 60
2254 CHR063 Chronic Mucocutaneous Candidiasis 59
2255 c PRT132 Protoporphyria, Erythropoietic, 1 59
2256 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
2257 LGS001 Legius Syndrome 57
2258 PBL005 Piebald Trait 57
2259 c WRD030 Waardenburg Syndrome, Type 1 57
2260 c PCH015 Pachyonychia Congenita 1 57
2261 ERY003 Erythema Multiforme 57
2262 PMP006 Pemphigus Vulgaris, Familial 56
2263 c ALB009 Albinism, Oculocutaneous, Type Ia 56
2264 c VRL010 Viral Hepatitis 56
2265 P SHR029 Short Syndrome 56
2266 RHM001 Rheumatic Fever 56
2267 PSD014 Pseudopseudohypoparathyroidism 56
2268 TTZ003 Tietz Albinism-Deafness Syndrome 55
2269 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55
2270 KRT071 Keratosis, Seborrheic 55
2271 PLM026 Pilomatrixoma 54
2272 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 54
2273 P FML012 Familial Partial Lipodystrophy 54
2274 c HRM017 Hermansky-Pudlak Syndrome 2 54
2275 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 54
2276 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 54
2277 PNM001 Pneumocystosis 53
2278 c CNG012 Congenital Generalized Lipodystrophy 53
2279 c ALB020 Albinism, Oculocutaneous, Type Iii 53
2280 c ART144 Arthrogryposis, Distal, Type 1a 53
2281 c HPT007 Hepatitis E 53
2282 FRB001 Farber Lipogranulomatosis 52
2283 MLT135 Multiple Sulfatase Deficiency 52
2284 DYS022 Dyschromatosis Symmetrica Hereditaria 52
2285 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 52
2286 FLR001 Filarial Elephantiasis 51
2287 P ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 50
2288 MLK003 Melkersson-Rosenthal Syndrome 50
2289 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 49
2290 c HPT015 Hepatitis D 49
2291 JHN001 Johanson-Blizzard Syndrome 49
2292 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
2293 c GRS014 Griscelli Syndrome, Type 2 48
2294 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
2295 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
2296 c HYP837 Hypercholesterolemia, Familial, 2 48
2297 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 48
2298 c ART155 Arthrogryposis, Distal, Type 2b1 47
2299 P PLL002 Pellagra 47
2300 c ART061 Arthrogryposis, Distal, Type 2a 47
2301 c ART120 Arthrogryposis, Distal, Type 3 47
2302 c SHR030 Short Qt Syndrome 47
2303 HNN001 Hennekam Syndrome 47
2304 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 47
2305 MRS002 Marshall Syndrome 47
2306 c WRD020 Waardenburg Syndrome, Type 4a 46
2307 c ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 46
2308 c HYP840 Hypercholesterolemia, Familial, 4 46
2309 P ACQ022 Acquired Generalized Lipodystrophy 46
2310 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 46
2311 CTS011 Cutis Marmorata Telangiectatica Congenita 45
2312 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
2313 MLN073 Melanosis, Neurocutaneous 45
2314 c CTS045 Cutis Laxa, Autosomal Dominant 1 44
2315 c HYP272 Hypercholesterolemia, Familial, 3 44
2316 P PRM001 Primary Cutaneous Amyloidosis 44
2317 c BRL011 Bare Lymphocyte Syndrome, Type I 44
2318 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
2319 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 43
2320 SLT014 Salt and Pepper Developmental Regression Syndrome 43
2321 P MLT048 Multiple Familial Trichoepithelioma 42
2322 WRS002 Warsaw Breakage Syndrome 41
2323 c FML294 Familial Short Qt Syndrome 41
2324 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
2325 c GRS013 Griscelli Syndrome, Type 1 41
2326 PRK003 Parkes Weber Syndrome 41
2327 c LPD040 Lipodystrophy, Familial Partial, Type 1 40
2328 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 39
2329 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
2330 ANC001 Ancylostomiasis 39
2331 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 39
2332 LVD003 Livedoid Vasculitis 39
2333 MJD001 Majeed Syndrome 38
2334 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 38
2335 c GRS012 Griscelli Syndrome, Type 3 38
2336 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 38
2337 c MLG049 Malignant Syringoma 37
2338 GRD005 Geroderma Osteodysplasticum 37
2339 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
2340 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
2341 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
2342 APC004 Apocrine Adenocarcinoma 37
2343 HMM002 Haim-Munk Syndrome 36
2344 IMM080 Immunodeficiency 23 36
2345 NST002 Nestor-Guillermo Progeria Syndrome 36
2346 CRC001 Cercarial Dermatitis 36
2347 c ART119 Arthrogryposis, Distal, Type 5 36
2348 VBR001 Vibratory Urticaria 35
2349 c LPR012 Leopard Syndrome 1 35
2350 CHL073 Cholestasis-Lymphedema Syndrome 35
2351 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
2352 c ART147 Arthrogryposis, Distal, Type 7 35
2353 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
2354 BCK005 Becker Nevus Syndrome 33
2355 PLV001 Pelvic Lipomatosis 33
2356 c CRN109 Cranioectodermal Dysplasia 2 33
2357 KRT058 Keratoderma, Palmoplantar, with Deafness 32
2358 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 32
2359 PRP093 Pierpont Syndrome 32
2360 ANG062 Angioosteohypertrophic Syndrome 32
2361 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30
2362 c ART104 Arthrogryposis, Distal, Type 5d 30
2363 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 30
2364 c CNG188 Congenital Disorder of Glycosylation, Type if 30
2365 PRM206 Premature Aging Syndrome, Penttinen Type 30
2366 c SHR032 Short Qt Syndrome 2 29
2367 BJL001 Bejel 28
2368 DGT002 Digital Clubbing, Isolated Congenital 28
2369 c SHR033 Short Qt Syndrome 3 28
2370 c SHR031 Short Qt Syndrome 1 28
2371 PHC006 Phacomatosis Pigmentovascularis 27
2372 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 27
2373 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
2374 P MRL001 Meralgia Paresthetica 27
2375 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
2376 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
2377 c CRN111 Cranioectodermal Dysplasia 4 26
2378 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
2379 CBB002 Cobb Syndrome 26
2380 c CRN110 Cranioectodermal Dysplasia 3 26
2381 ECC008 Eccrine Sweat Gland Neoplasm 25
2382 c LPD044 Lipodystrophy, Familial Partial, Type 7 24
2383 PLM104 Palmoplantar Keratoderma, Nagashima Type 24
2384 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
2385 c LPR007 Leopard Syndrome 3 24
2386 c ART112 Arthrogryposis, Distal, Type 10 23
2387 c LPR011 Leopard Syndrome 2 23
2388 c TRC094 Trichoepithelioma, Multiple Familial, 2 22
2389 c ART156 Arthrogryposis, Distal, Type 2b2 22
2390 c ART157 Arthrogryposis, Distal, Type 2b3 21
2391 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 21
2392 IND009 Indeterminate Cell Histiocytosis 21
2393 CRN070 Corneodermatoosseous Syndrome 21
2394 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 20
2395 c ART131 Arthrogryposis, Distal, Type 4 20
2396 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19
2397 c ART060 Arthrogryposis, Distal, Type 1b 19
2398 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 19
2399 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 19
2400 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 19
2401 c ART128 Arthrogryposis, Distal, Type 6 18
2402 c PRT135 Protoporphyria, Erythropoietic, 2 18
2403 INF127 Infective Dermatitis Associated with Htlv-1 17
2404 MLN018 Moloney Syndrome 16
2405 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 16
2406 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 16
2407 c PLL014 Pellagra-Like Syndrome 16
2408 VND003 Van Den Bosch Syndrome 16
2409 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
2410 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 14
2411 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 13
2412 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 13
2413 c ART054 Arthrogryposis, Distal, Type 2e 12
2414 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 12
2415 P PCH020 Pachyonychia Congenita, Autosomal Recessive 11
2416 c HLL012 Hallermann-Streiff-Like Syndrome 9
2417 c MRL006 Meralgia Paraesthetica, Familial 8
2418 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
2419 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
2420 P RRH027 Rare Hypercholesterolemia 5
2421 CHC001 Chickenpox 53
2422 BRL010 Buruli Ulcer 52
2423 P FML011 Familial Adenomatous Polyposis 73
2424 c FML346 Familial Adenomatous Polyposis 1 71
2425 BHC003 Behcet Syndrome 70
2426 MYC006 Mycosis Fungoides 67
2427 NVS017 Nevus, Epidermal 66
2428 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 65
2429 P OCL013 Oculodentodigital Dysplasia 65
2430 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
2431 CST001 Costello Syndrome 64
2432 P HRM001 Hermansky-Pudlak Syndrome 64
2433 PPL049 Papillon-Lefevre Syndrome 63
2434 ADL002 Adult Syndrome 62
2435 P EPD009 Epidermolysis Bullosa Dystrophica 62
2436 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
2437 PRP083 Porphyria, Acute Intermittent 62
2438 OSS012 Osseous Heteroplasia, Progressive 62
2439 c PSD108 Pseudohypoparathyroidism, Type Ia 61
2440 P BRN019 Bernard-Soulier Syndrome 60
2441 P CRB101 Cerebrooculofacioskeletal Syndrome 1 60
2442 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
2443 HDR002 Hidradenitis Suppurativa 58
2444 MLN065 Melanocytic Nevus Syndrome, Congenital 58
2445 MVL001 Mevalonic Aciduria 58
2446 ALK013 Alkaptonuria 57
2447 CPR004 Coproporphyria, Hereditary 57
2448 P BRT029 Brittle Cornea Syndrome 2 56
2449 EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
2450 PRC002 Paracoccidioidomycosis 55
2451 P PSD015 Pseudohypoparathyroidism 54
2452 c HRM005 Hermansky-Pudlak Syndrome 1 54
2453 P PTY003 Pityriasis Rubra Pilaris 53
2454 STR039 Sturge-Weber Syndrome 52
2455 P GRS003 Griscelli Syndrome 51
2456 HYP088 Hyper-Igd Syndrome 51
2457 c HRM008 Hermansky-Pudlak Syndrome 5 51
2458 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 51
2459 c PSD066 Pseudohypoparathyroidism, Type Ib 51
2460 c HRM006 Hermansky-Pudlak Syndrome 3 50
2461 NRF008 Neurofibromatosis-Noonan Syndrome 50
2462 P BLP047 Blepharocheilodontic Syndrome 1 50
2463 P HLL001 Hallermann-Streiff Syndrome 50
2464 PGT003 Paget Disease, Extramammary 49
2465 CLC001 Calciphylaxis 49
2466 CRY008 Cryopyrin-Associated Periodic Syndrome 48
2467 NRL002 Neurilemmomatosis 48
2468 VCS001 Vici Syndrome 48
2469 LMT001 Limited Scleroderma 48
2470 P NLX004 Neu-Laxova Syndrome 1 45
2471 SND002 Sneddon Syndrome 45
2472 c CPL013 Capillary Malformations, Congenital 44
2473 c HRM009 Hermansky-Pudlak Syndrome 6 43
2474 DBW001 Dubowitz Syndrome 42
2475 DYS002 Dysplastic Nevus Syndrome 42
2476 MND025 Mandibulofacial Dysostosis with Alopecia 41
2477 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 41
2478 KDS001 Kid Syndrome 41
2479 BRB006 Barber-Say Syndrome 40
2480 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 40
2481 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
2482 BLR027 Blue Rubber Bleb Nevus 39
2483 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 38
2484 c HRM007 Hermansky-Pudlak Syndrome 4 38
2485 c PSD117 Pseudohypoparathyroidism, Type Ic 38
2486 WTK002 Witkop Syndrome 37
2487 c FML347 Familial Adenomatous Polyposis 2 36
2488 BJR001 Bjornstad Syndrome 35
2489 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
2490 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 34
2491 TMP011 Temple-Baraitser Syndrome 34
2492 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 33
2493 ACR025 Acrocephalopolydactylous Dysplasia 32
2494 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 31
2495 c PSD104 Pseudohypoparathyroidism, Type Ii 31
2496 EYL002 Eyelid Carcinoma 30
2497 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 30
2498 c FML299 Familial Adenomatous Polyposis 3 30
2499 c NLX003 Neu-Laxova Syndrome 2 30
2500 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 29
2501 STY001 Satoyoshi Syndrome 29
2502 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 28
2503 DRM021 Dermatopathia Pigmentosa Reticularis 28
2504 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 27
2505 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 27
2506 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 27
2507 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 27
2508 c FML339 Familial Adenomatous Polyposis 4 26
2509 HYP481 Hyperbiliverdinemia 26
2510 c HRM020 Hermansky-Pudlak Syndrome 10 23
2511 SCR025 Scarf Syndrome 23
2512 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 23
2513 ARD001 Aredyld 23
2514 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23
2515 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 23
2516 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 22
2517 c BLP049 Blepharocheilodontic Syndrome 2 21
2518 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
2519 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 18
2520 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 17
2521 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 17
2522 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 16
2523 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
2524 P RRC010 Rare Capillary Malformation 7
2525 c OCL037 Oculodentodigital Dysplasia Dominant 3
2526 CNN003 Conn's Syndrome 78
2527 P TTR001 Tetralogy of Fallot 70
2528 PTZ001 Peutz-Jeghers Syndrome 70
2529 MCC012 Mccune-Albright Syndrome 70
2530 P CHR012 Chronic Granulomatous Disease 69
2531 WRN001 Werner Syndrome 68
2532 c MCL062 Mucolipidosis Ii Alpha/beta 67
2533 c PRD013 Periodic Fever, Familial, Autosomal Dominant 67
2534 P CWD010 Cowden Syndrome 66
2535 HTC003 Hutchinson-Gilford Progeria Syndrome 64
2536 P TRC102 Trichothiodystrophy 1, Photosensitive 64
2537 DRM014 Dermatofibrosarcoma Protuberans 63
2538 BRT002 Birt-Hogg-Dube Syndrome 62
2539 c MCL013 Mucolipidosis Iv 60
2540 CLS005 Clouston Syndrome 59
2541 MRT001 Muir-Torre Syndrome 58
2542 P OCL002 Oculocutaneous Albinism 58
2543 BRG013 Buerger Disease 58
2544 c MCL046 Mucolipidosis Iii Alpha/beta 58
2545 BRK001 Brooke-Spiegler Syndrome 55
2546 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 54
2547 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 52
2548 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49
2549 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 48
2550 c LYM144 Lymphatic Malformation 1 47
2551 P MCL001 Mucolipidosis 46
2552 RYN003 Reynolds Syndrome 46
2553 HYP236 Hyperbilirubinemia, Rotor Type 46
2554 P LYM127 Lymphatic Malformations 44
2555 c MCL016 Mucolipidosis Iii Gamma 44
2556 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
2557 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
2558 P MNT319 Mental Retardation, Autosomal Dominant 20 42
2559 c LYM150 Lymphatic Malformation 7 40
2560 c MNT143 Mental Retardation, Autosomal Dominant 13 38
2561 TRM011 Terminal Osseous Dysplasia 36
2562 c MNT185 Mental Retardation, Autosomal Dominant 7 34
2563 P HRD214 Hereditary Periodic Fever Syndrome 34
2564 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 33
2565 c RRL003 Rare Lymphatic Malformation 32
2566 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
2567 PSD119 Pseudohypoparathyroidism with Albright Hereditary Osteodystrophy 31
2568 c MNT212 Mental Retardation, Autosomal Dominant 26 30
2569 c MNT226 Mental Retardation, Autosomal Dominant 31 30
2570 c CWD008 Cowden Syndrome 6 29
2571 WYB002 Wyburn-Mason Syndrome 28
2572 c MNT157 Mental Retardation, Autosomal Dominant 18 27
2573 c MNT158 Mental Retardation, Autosomal Dominant 22 27
2574 c MNT241 Mental Retardation, Autosomal Dominant 32 27
2575 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 27
2576 c MNT239 Mental Retardation, Autosomal Dominant 35 26
2577 c MNT210 Mental Retardation, Autosomal Recessive 42 26
2578 c CWD004 Cowden Syndrome 5 26
2579 c MNT270 Mental Retardation, Autosomal Recessive 53 26
2580 c TRC100 Trichothiodystrophy 3, Photosensitive 26
2581 c LYM149 Lymphatic Malformation 6 26
2582 c MNT328 Mental Retardation, Autosomal Dominant 52 26
2583 c MNT273 Mental Retardation, Autosomal Dominant 44 25
2584 c MNT262 Mental Retardation, Autosomal Dominant 42 25
2585 c MNT214 Mental Retardation, Autosomal Dominant 24 25
2586 c MNT145 Mental Retardation, Autosomal Recessive 5 25
2587 c MNT211 Mental Retardation, Autosomal Dominant 23 25
2588 c MNT246 Mental Retardation, Autosomal Dominant 38 25
2589 c MNT213 Mental Retardation, Autosomal Recessive 40 25
2590 c CWD009 Cowden Syndrome 7 25
2591 c MNT272 Mental Retardation, Autosomal Dominant 41 25
2592 c MNT216 Mental Retardation, Autosomal Recessive 41 25
2593 c MNT166 Mental Retardation, Autosomal Recessive 39 24
2594 c MNT183 Mental Retardation, Autosomal Recessive 36 24
2595 CMP075 Campomelia, Cumming Type 24
2596 c MNT150 Mental Retardation, Autosomal Recessive 15 24
2597 c MNT179 Mental Retardation, Autosomal Dominant 21 24
2598 c MNT280 Mental Retardation, Autosomal Dominant 43 24
2599 c MNT287 Mental Retardation, Autosomal Recessive 57 24
2600 LMB076 Lumbar Syndrome 24
2601 c MNT222 Mental Retardation, Autosomal Dominant 29 24
2602 c MNT236 Mental Retardation, Autosomal Dominant 39 23
2603 c MNT334 Mental Retardation, Autosomal Dominant 57 23
2604 c MNT155 Mental Retardation, Autosomal Recessive 2 23
2605 c MNT184 Mental Retardation, Autosomal Dominant 11 23
2606 c MNT332 Mental Retardation, Autosomal Dominant 56 23
2607 c MNT176 Mental Retardation, Autosomal Recessive 38 23
2608 c MNT329 Mental Retardation, Autosomal Dominant 53 23
2609 c MNT324 Mental Retardation, Autosomal Dominant 49 23
2610 c MNT326 Mental Retardation, Autosomal Dominant 50 23
2611 c MNT321 Mental Retardation, Autosomal Recessive 37 23
2612 c LYM147 Lymphatic Malformation 3 23
2613 c MNT282 Mental Retardation, Autosomal Recessive 55 23
2614 c MNT242 Mental Retardation, Autosomal Dominant 40 23
2615 c MNT279 Mental Retardation, Autosomal Dominant 47 22
2616 c MNT245 Mental Retardation, Autosomal Dominant 36 22
2617 c MNT323 Mental Retardation, Autosomal Dominant 48 22
2618 c MNT238 Mental Retardation, Autosomal Dominant 34 22
2619 c MNT330 Mental Retardation, Autosomal Dominant 54 22
2620 c MNT219 Mental Retardation, Autosomal Dominant 30 22
2621 c MNT244 Mental Retardation, Autosomal Recessive 49 22
2622 c MNT325 Mental Retardation, Autosomal Recessive 61 22
2623 c MNT227 Mental Retardation, Autosomal Recessive 46 21
2624 c MNT338 Mental Retardation, Autosomal Recessive 65 21
2625 c CWD005 Cowden Syndrome 4 21
2626 c MNT337 Mental Retardation, Autosomal Dominant 58 21
2627 c MNT286 Mental Retardation, Autosomal Dominant 45 21
2628 c LYM148 Lymphatic Malformation 4 21
2629 c MNT327 Mental Retardation, Autosomal Dominant 51 21
2630 c MNT177 Mental Retardation, Autosomal Recessive 27 21
2631 c MNT186 Mental Retardation, Autosomal Dominant 10 21
2632 c MNT221 Mental Retardation, Autosomal Recessive 44 20
2633 c MNT339 Mental Retardation, Autosomal Recessive 66 20
2634 c TRC099 Trichothiodystrophy 2, Photosensitive 20
2635 c MNT278 Mental Retardation, Autosomal Dominant 46 20
2636 c MNT285 Mental Retardation, Autosomal Recessive 58 20
2637 c MNT151 Mental Retardation, Autosomal Recessive 18 20
2638 c MNT234 Mental Retardation, Autosomal Recessive 48 20
2639 c MNT240 Mental Retardation, Autosomal Dominant 33 19
2640 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
2641 c MNT154 Mental Retardation, Autosomal Recessive 14 19
2642 c MNT336 Mental Retardation, Autosomal Recessive 64 19
2643 c MNT275 Mental Retardation, Autosomal Recessive 60 19
2644 c MNT225 Mental Retardation, Autosomal Recessive 47 18
2645 c MNT220 Mental Retardation, Autosomal Recessive 45 18
2646 c MNT263 Mental Retardation, Autosomal Recessive 51 18
2647 c MNT243 Mental Retardation, Autosomal Recessive 50 18
2648 c MNT181 Mental Retardation, Autosomal Recessive 35 17
2649 c MNT215 Mental Retardation, Autosomal Recessive 43 17
2650 c MNT277 Mental Retardation, Autosomal Recessive 54 17
2651 c MNT335 Mental Retardation, Autosomal Recessive 63 17
2652 c MNT264 Mental Retardation, Autosomal Recessive 52 16
2653 c MNT281 Mental Retardation, Autosomal Recessive 59 16
2654 c MNT172 Mental Retardation, Autosomal Recessive 25 16
2655 c MNT284 Mental Retardation, Autosomal Recessive 56 16
2656 c LYM146 Lymphatic Malformation 2 16
2657 c MNT161 Mental Retardation, Autosomal Recessive 29 15
2658 c MNT180 Mental Retardation, Autosomal Recessive 33 15
2659 c MNT163 Mental Retardation, Autosomal Recessive 30 15
2660 c MNT162 Mental Retardation, Autosomal Recessive 24 15
2661 c MNT182 Mental Retardation, Autosomal Recessive 19 14
2662 c MNT165 Mental Retardation, Autosomal Recessive 28 14
2663 c MNT170 Mental Retardation, Autosomal Recessive 23 14
2664 c MNT167 Mental Retardation, Autosomal Recessive 16 14
2665 c MNT160 Mental Retardation, Autosomal Recessive 31 13
2666 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
2667 c ATS394 Autosomal Dominant Mental Retardation 55 5
2668 P ATX030 Ataxia-Telangiectasia 83
2669 c MCP001 Mucopolysaccharidosis Iii 64
2670 LKC009 Leukocyte Adhesion Deficiency, Type I 64
2671 c MCP050 Mucopolysaccharidosis, Type Ii 63
2672 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 62
2673 P MCP040 Mucopolysaccharidosis-Plus Syndrome 62
2674 P DRM010 Dermatomyositis 62
2675 CRB011 Cerebrotendinous Xanthomatosis 61
2676 c MCP047 Mucopolysaccharidosis, Type Iva 61
2677 c MCP052 Mucopolysaccharidosis, Type Vi 61
2678 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 60
2679 c MCP049 Mucopolysaccharidosis, Type Vii 60
2680 P AXN002 Axenfeld-Rieger Syndrome 58
2681 P PRT008 Proteus Syndrome 58
2682 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56
2683 c MCP043 Mucopolysaccharidosis, Type Iiia 54
2684 c AXN010 Axenfeld-Rieger Syndrome, Type 3 51
2685 c MCP044 Mucopolysaccharidosis, Type Iiib 47
2686 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 42
2687 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
2688 c MCP045 Mucopolysaccharidosis, Type Iiic 39
2689 c MCP051 Mucopolysaccharidosis, Type Ix 38
2690 c MCP048 Mucopolysaccharidosis, Type Ivb 37
2691 c MCP046 Mucopolysaccharidosis, Type Iiid 34
2692 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 33
2693 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
2694 c AXN012 Axenfeld-Rieger Syndrome, Type 2 30
2695 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 25
2696 c PRT063 Proteus-Like Syndrome 24
2697 ANG005 Anogenital Venereal Wart 51
2698 c CWD006 Cowden Syndrome 1 76
2699 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
2700 ELL001 Ellis-Van Creveld Syndrome 62
2701 c TYR012 Tyrosinemia, Type I 61
2702 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 59
2703 BTN003 Biotinidase Deficiency 56
2704 P TYR004 Tyrosinemia 54
2705 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54
2706 P PRP056 Porphyria, Acute Hepatic 46
2707 c TYR013 Tyrosinemia, Type Ii 45
2708 SCL046 Scalp-Ear-Nipple Syndrome 42
2709 c TYR011 Tyrosinemia, Type Iii 41
2710 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
2711 P PHS005 Peho Syndrome 37
2712 LYM094 Lymphedema, Primary, with Myelodysplasia 36
2713 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 26
2714 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
2715 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 19
2716 P EPD083 Epidermodysplasia Verruciformis 1 59
2717 FBR011 Fibrodysplasia Ossificans Progressiva 65
2718 MCK007 Muckle-Wells Syndrome 61
2719 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
2720 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46
2721 P LPR021 Leprosy 3 67
2722 c LPR022 Leprosy 2 37
2723 c LPR023 Leprosy 1 23
2724 c LPR017 Leprosy 5 20
2725 c LPR016 Leprosy 4 17
2726 c LPR020 Leprosy 6 17



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