Skin Diseases Category (2713 diseases)


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

# Family MCID Name MIFTS
1 c XRD031 Xeroderma Pigmentosum, Complementation Group F 53
2 c XRD023 Xeroderma Pigmentosum, Complementation Group G 53
3 P XRD029 Xeroderma Pigmentosum, Complementation Group a 53
4 c XRD022 Xeroderma Pigmentosum, Complementation Group D 57
5 c XRD030 Xeroderma Pigmentosum, Complementation Group C 54
6 MLN008 Melanoma 69
7 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 29
8 c KRT018 Keratosis Palmoplantaris Striata Iii 16
9 OCL022 Ocular Melanoma 53
10 P MLN069 Melanoma, Uveal 58
11 c XRD032 Xeroderma Pigmentosum, Complementation Group B 49
12 c XRD021 Xeroderma Pigmentosum, Complementation Group E 43
13 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 31
14 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 28
15 P KRT017 Keratosis Palmoplantaris Striata Ii 21
16 PRM139 Primary Melanoma of the Central Nervous System 16
17 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
18 AML001 Amelanotic Melanoma 39
19 DGS008 Digestive System Melanoma 13
20 MLG005 Malignant Spindle Cell Melanoma 40
21 TXC003 Toxicodendron Dermatitis 33
22 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 31
23 c PST022 Posterior Uveal Melanoma 41
24 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 17
25 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 14
26 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 13
27 LPD014 Lipodermatosclerosis 38
28 TNN002 Tinea Unguium 36
29 MLN070 Melanoma-Astrocytoma Syndrome 34
30 GMZ002 Gomez-Lopez-Hernandez Syndrome 30
31 EPD081 Epidermoid Brain Cyst 24
32 SPR033 Superficial Spreading Melanoma 18
33 P ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 45
34 c ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 45
35 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 45
36 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 45
37 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45
38 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 44
39 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 43
40 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 42
41 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 40
42 XRD027 Xeroderma Pigmentosum Group E 37
43 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 36
44 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34
45 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 34
46 DRM050 Dermographism, Familial 28
47 PHT004 Photoallergic Dermatitis 28
48 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 43
49 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
50 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
51 MLG052 Malignant Cornea Melanoma 10
52 GNT084 Genetic Photodermatosis 5
53 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 19
54 UNN001 Unna-Thost Palmoplantar Keratoderma 11
55 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 27
56 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 24
57 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 22
58 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 19
59 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 13
60 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
61 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 5
62 DFF003 Diffuse Scleroderma 42
63 SKN020 Skin Papilloma 39
64 MLG142 Malignant Conjunctival Melanoma 36
65 MNN010 Meningeal Melanoma 31
66 MXD040 Mixed Cell Uveal Melanoma 31
67 MLG038 Malignant Anus Melanoma 29
68 ESP016 Esophagus Melanoma 27
69 MLG061 Malignant Choroid Melanoma 25
70 MLG070 Malignant Iris Melanoma 23
71 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 22
72 MLG008 Malignant Breast Melanoma 21
73 MLG062 Malignant Ciliary Body Melanoma 21
74 MLN071 Melanoma Tumor Antigen Gp90 17
75 KRT023 Keratoderma Palmoplantaris Transgrediens 14
76 c PRM047 Primary Malignant Melanoma of the Cervix 12
77 RCT003 Rectum Malignant Melanoma 10
78 RTN010 Retinal Melanoma 10
79 JNS005 Jones Hersh Yusk Syndrome 9
80 CHR448 Choroid Mixed Cell Melanoma 8
81 TNC002 Tinea Capitis 38
82 EPD070 Epidermoid Cysts 37
83 KSK002 Kosaki Overgrowth Syndrome 31
84 EPD025 Epidermolysis Bullosa with Pyloric Atresia 28
85 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 25
86 IMM145 Immunodeficiency 11b with Atopic Dermatitis 21
87 DRM011 Dermatophytosis 52
88 KWS001 Kwashiorkor 45
89 NCK004 Nickel Allergic Contact Dermatitis 35
90 PLL016 Palladium Allergic Contact Dermatitis 30
91 PRC021 Parc Syndrome 18
92 DPD001 Deep Dermatophytosis 17
93 CHR011 Choroid Spindle Cell Melanoma 9
94 FRM010 Formaldehyde Allergic Contact Dermatitis 9
95 CBL009 Cobalt Allergic Contact Dermatitis 7
96 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 6
97 BNZ004 Benzoic Acid Allergic Contact Dermatitis 5
98 KTP001 Ketoprofen Photoallergic Dermatitis 5
99 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 5
100 CRV076 Carvone Allergic Contact Dermatitis 5
101 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 5
102 WND001 Wound Botulism 38
103 VLV020 Vulvar Melanoma 37
104 MNN008 Meningeal Melanomatosis 30
105 GLL012 Gallbladder Melanoma 29
106 TCH005 Tièche-Jadassohn Nevus 27
107 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27
108 CTN001 Cutaneous Solitary Mastocytoma 24
109 EPT001 Epithelioid Cell Melanoma 23
110 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
111 JNC002 Junctional Epidermolysis Bullosa Inversa 21
112 SPN047 Spindle Cell Intraocular Melanoma 21
113 SPN025 Spinal Cord Melanoma 21
114 ATM026 Autoimmune Progesterone Dermatitis 19
115 DFF028 Diffuse Leptomeningeal Melanocytosis 17
116 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 17
117 CND003 Candidal Paronychia 16
118 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 14
119 c MLN039 Melanoma, Uveal 1 13
120 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 13
121 c MLN041 Melanoma, Uveal 2 13
122 BRS103 Bier Spots 12
123 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 12
124 DYS044 Dysmorphism Cleft Palate Loose Skin 11
125 RDS002 Red Skin Pigment Anomaly of New Guinea 10
126 MGR041 Megarbane-Jalkh Syndrome 10
127 CHR045 Choroid Necrotic Melanoma 9
128 CLR002 Ciliary Body Spindle Cell Melanoma 8
129 ADL009 Adult Leptomeningeal Melanoma 8
130 SCR012 Scrotum Melanoma 7
131 PDT007 Pediatric Leptomeningeal Melanoma 7
132 UVL002 Uveal Epithelioid Cell Melanoma 7
133 CHR014 Choroid Epithelioid Cell Melanoma 7
134 JDG001 Judge Misch Wright Syndrome 6
135 DRM001 Dermal Unilateral Segmental Cavernous Angioma 5
136 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 5
137 GRR001 Garret Tripp Syndrome 5
138 DRM062 Dermoid or Epidermoid Cyst of the Central Nervous System 5
139 MXD005 Mixed Connective Tissue Disease 59
140 ONC002 Onchocerciasis 51
141 MCS004 Mucosal Melanoma 46
142 CRS005 Crest Syndrome 44
143 HMF008 Hemifacial Atrophy, Progressive 39
144 LNT002 Lentigo Maligna Melanoma 35
145 OCL034 Oculocerebrocutaneous Syndrome 33
146 BDN002 Bednar Tumor 25
147 MLN046 Melanoma-Associated Retinopathy 24
148 DFF018 Diffuse Dermal Angiomatosis 12
149 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 12
150 YSH001 Yusho Disease 11
151 KRT062 Keratoderma with Woolly Hair 10
152 MLT163 Multiple Pterygium Syndrome, Escobar Variant 64
153 CMP010 Complex Regional Pain Syndrome 58
154 P PLY147 Polydactyly, Postaxial, Type A1 56
155 SCB001 Scabies 51
156 NLS001 Nelson Syndrome 45
157 PST053 Postherpetic Neuralgia 42
158 YSY001 Yao Syndrome 35
159 SPT007 Spitz Nevus 35
160 PPL052 Papillomatosis, Confluent and Reticulated 34
161 ACN010 Acanthoma 33
162 HLN001 Halo Nevi 30
163 PNC060 Punctate Porokeratosis 29
164 CMP060 Complement Component 9 Deficiency 28
165 EPD004 Epidermolytic Acanthoma 28
166 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 20
167 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19
168 c PLY178 Polydactyly, Postaxial, Type A8 18
169 c PLY103 Polydactyly, Postaxial, Type A5 17
170 c PLY184 Polydactyly, Postaxial, Type A10 17
171 c PLY101 Polydactyly, Postaxial, Type A6 16
172 c PLY163 Polydactyly, Postaxial, Type A2 16
173 c PLY144 Polydactyly, Postaxial, Type A7 16
174 c PLY182 Polydactyly, Postaxial, Type A9 16
175 ALG003 Al Gazali Aziz Salem Syndrome 15
176 c PLY054 Polydactyly, Postaxial, Type A4 14
177 c PLY053 Polydactyly, Postaxial, Type A3 14
178 TBR017 Tuberculin Skin Test Reactivity, Absence of 14
179 CHR679 Chromium Allergic Contact Dermatitis 12
180 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 12
181 DRM047 Dermatoglyphics--Arch on Any Digit 8
182 IRS001 Iris Spindle Cell Melanoma 7
183 END012 Endometriosis in Scar of Skin 6
184 PTS020 Potassium Dichromate Allergic Contact Dermatitis 4
185 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
186 c HRD010 Hereditary Spastic Paraplegia 66
187 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
188 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58
189 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
190 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
191 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 56
192 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
193 HYP781 Hypoascorbemia 50
194 TLR001 Tularemia 49
195 P OCL001 Ocular Albinism 49
196 RYN001 Raynaud Disease 49
197 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 48
198 P DPY001 Dupuytren Contracture 48
199 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
200 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 47
201 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
202 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 46
203 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 45
204 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45
205 PLL008 Pallister-Killian Syndrome 44
206 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
207 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
208 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 43
209 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 43
210 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 42
211 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42
212 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
213 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
214 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 42
215 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
216 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
217 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 41
218 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
219 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
220 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 41
221 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 40
222 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
223 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
224 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 40
225 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
226 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 40
227 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
228 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
229 MCC013 Mucocutaneous Ulceration, Chronic 39
230 ANG065 Angioma, Tufted 39
231 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
232 c ALB024 Albinism, Ocular, Type I 38
233 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 38
234 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
235 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
236 PTY002 Pityriasis Versicolor 37
237 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 36
238 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
239 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 35
240 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
241 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
242 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
243 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 34
244 c SPS021 Spastic Paraplegia 10 33
245 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 33
246 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
247 RTC001 Reticulohistiocytic Granuloma 32
248 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
249 c SPS013 Spastic Paraplegia 8 32
250 c SPS036 Spastic Paraplegia 3 31
251 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
252 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
253 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
254 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
255 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
256 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 30
257 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
258 c SPS025 Spastic Paraplegia 15 30
259 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
260 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 29
261 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
262 c SPS091 Spastic Paraplegia 4 29
263 MLN002 Melanomatosis 29
264 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 29
265 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
266 c SPS039 Spastic Paraplegia 5a 28
267 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
268 PRN035 Perniosis 27
269 P SPS012 Spastic Paraplegia 3a 26
270 c HRD186 Hereditary Spastic Paraplegia 51 26
271 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
272 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 26
273 c SPS092 Spastic Paraplegia 11 25
274 c SPS041 Spastic Paraplegia 6 25
275 c SPS027 Spastic Paraplegia 17 25
276 ZNC004 Zinc Deficiency, Transient Neonatal 25
277 DRM046 Dermal Ridges-off-the-End 25
278 c HRD188 Hereditary Spastic Paraplegia 72 24
279 c SPS042 Spastic Paraplegia 9 22
280 OVR104 Ovarian Melanoma 22
281 c HRD210 Hereditary Spastic Paraplegia 23 21
282 SLC040 Selection of Therapeutic Option in Melanoma 21
283 c SPS038 Spastic Paraplegia 39 21
284 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 21
285 c SPS023 Spastic Paraplegia 13 20
286 NCR008 Necrotic Uveal Melanoma 20
287 NTL003 Notalgia Paresthetica 20
288 c SPS022 Spastic Paraplegia 12 19
289 AQG001 Aquagenic Pruritus 19
290 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 19
291 c SPS028 Spastic Paraplegia 18 19
292 c SPS034 Spastic Paraplegia 26 18
293 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 18
294 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 18
295 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 18
296 LNR001 Leiner Disease 17
297 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
298 c SPS032 Spastic Paraplegia 24 17
299 c OBS225 Obsolete: Xeroderma Pigmentosum Complementation Group F 16
300 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 16
301 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 15
302 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
303 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 15
304 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
305 c SPS029 Spastic Paraplegia 19 15
306 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 15
307 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 15
308 c SPS035 Spastic Paraplegia 29 15
309 c SPS024 Spastic Paraplegia 14 15
310 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 14
311 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 14
312 c SPS161 Spastic Paraplegia 32 14
313 c SPS033 Spastic Paraplegia 25 13
314 c SPS165 Spastic Paraplegia 47 13
315 c SPS026 Spastic Paraplegia 16 13
316 NNT046 Neonatal Dermatomyositis 12
317 P CRV009 Cervix Melanoma 12
318 c SPS230 Spastic Paraplegia Type 49 12
319 PTT039 Pituitary Dermoid and Epidermoid Cysts 12
320 c OBS227 Obsolete: Xeroderma Pigmentosum Complementation Group D 12
321 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
322 NNT043 Neonatal Scleroderma 11
323 c OBS228 Obsolete: Xeroderma Pigmentosum Complementation Group C 11
324 PSD110 Pseudoatrophoderma Colli 11
325 c OBS224 Obsolete: Xeroderma Pigmentosum Complementation Group a 11
326 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 11
327 HRY007 Hairy Palms and Soles 11
328 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
329 c OBS229 Obsolete: Xeroderma Pigmentosum Complementation Group G 10
330 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
331 HST020 Histiocytic Dermatoarthritis 9
332 MLN068 Melanoma, Malignant Familial Intraocular 9
333 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 9
334 c SPS040 Spastic Paraplegia 5b 9
335 DRM045 Dermal Ridges, Patternless 9
336 DRM049 Dermatoglyphics--Fingerprint Pattern 8
337 P OBS223 Obsolete: Xeroderma Pigmentosum Complementation Group B 8
338 DRM044 Dermal Ridges, Nelson Syndrome 8
339 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 8
340 OBS128 Obsolete: Ectodermal Dysplasia-Absent Dermatoglyphs Syndrome 8
341 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 8
342 BRR007 Borrone Di Rocco Crovato Syndrome 8
343 P FRN057 Furuncular Myiasis Due to Cordylobia Anthropophaga 7
344 BSR001 Basaran Yilmaz Syndrome 7
345 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 7
346 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7
347 DRM052 Dermatoglyphics--Hypothenar Radial Arch 7
348 c OBS226 Obsolete: Xeroderma Pigmentosum Complementation Group E 6
349 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
350 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
351 P APL009 Aplasia Cutis Congenita of Limbs Recessive 6
352 OBS428 Obsolete: Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 5
353 c FRN055 Furuncular Myiasis Due to Cordylobia Rodhaini 5
354 PRM048 Primary Malignant Melanoma of the Conjunctiva 5
355 CLR008 Ciliary Body Mixed Cell Melanoma 5
356 IRS002 Iris Mixed Cell Melanoma 5
357 ELL003 Elliott Ludman Teebi Syndrome 5
358 GNT094 Genetic Pigmentation Anomaly of the Skin 5
359 c FRN056 Furuncular Myiasis Due to Dermatobia Hominis 5
360 DRM048 Dermatoglyphics--Finger Ridge Count 4
361 OBS195 Obsolete: Intellectual Disability-Hypotonia-Skin Hyperpigmentation Syndrome 4
362 OBS620 Obsolete: Pediatric Systemic Sclerosis 4
363 MLG096 Malignant Melanoma, Childhood 4
364 GNT100 Genetic Epidermal Disorder 4
365 OBS540 Obsolete: Melanoma-Pancreatic Cancer Syndrome 4
366 GNT085 Genetic Immune Deficiency with Skin Involvement 3
367 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 3
368 GNT087 Genetic Skin Tumor 3
369 GNT091 Genetic Hyperpigmentation of the Skin 3
370 GNT092 Genetic Hypopigmentation of the Skin 3
371 GNT095 Genetic Erythrokeratoderma 3
372 GNT097 Genetic Acrokeratoderma 3
373 GNT098 Genetic Epidermal Appendage Anomaly 3
374 OBS175 Obsolete: Epidermal Nevus-Vitamin D-Resistant Rickets Syndrome 3
375 OBS198 Obsolete: Hereditary Epidermolysis Bullosa Associated with Ocular Features 3
376 P OBS331 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Allopurinol Treatment 3
377 c OBS332 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Carbamazepine Treatment 3
378 c OBS333 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Phenytoin Treatment 3
379 c OBS334 Obsolete: Susceptibility to Toxic Epidermal Necrolysis Due to Phosphenytoin Treatment 3
380 OTH024 Other Genetic Epidermal Disease 3
381 c OBS688 Obsolete: Malignant Tumor of Palpebral Epidermis 3
382 OBS689 Obsolete: Precancerous Lesion of Palpebral Epidermis 3
383 OBS691 Obsolete: Palpebral Malignant Melanoma 3
384 OBS697 Obsolete: Palpebral Epidermal Tumor 3
385 P OBS698 Obsolete: Benign Tumor of Palpebral Epidermis 3
386 OBS738 Obsolete: Genodermatosis with Ocular Features 3
387 c FML226 Familial Dupuytren Contracture 3
388 CDK001 Cdk4 Linked Melanoma 2
389 DRM018 Dermatocardioskeletal Syndrome Boronne Type 2
390 MSM009 Mesomelic Dysplasia Skin Dimples 2
391 P SYS005 Systemic Scleroderma 69
392 GRN037 Granulomatosis with Polyangiitis 64
393 PRP083 Porphyria, Acute Intermittent 63
394 KND001 Kindler Syndrome 63
395 CTN007 Cutaneous Leishmaniasis 61
396 SZR001 Sezary's Disease 60
397 ACN002 Acanthosis Nigricans 60
398 YLL002 Yellow Fever 60
399 P ALP009 Alopecia Areata 60
400 P SYP003 Syphilis 59
401 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 59
402 c ANG068 Angioedema, Hereditary, Type I 56
403 RSC001 Rosacea 55
404 RFL001 Reflex Sympathetic Dystrophy 53
405 P PRK001 Porokeratosis 53
406 P HYP077 Hypertrichosis 50
407 WLL006 Wells Syndrome 50
408 PRN014 Paronychia 49
409 PNN001 Panniculitis 49
410 HRT031 Hartnup Disorder 49
411 NCR007 Necrotizing Fasciitis 49
412 c FNC048 Fanconi Anemia, Complementation Group O 49
413 P KRT005 Keratoacanthoma 48
414 P MRC003 Mercury Poisoning 48
415 PST062 Pustulosis Palmaris Et Plantaris 47
416 c FNC023 Fanconi Anemia, Complementation Group N 47
417 ANH002 Anhidrosis 46
418 CTS011 Cutis Marmorata Telangiectatica Congenita 46
419 DRG013 Drug-Induced Lupus Erythematosus 46
420 LNT004 Lentigines 46
421 FLL008 Folliculitis 46
422 PRL019 Prolidase Deficiency 46
423 c FNC047 Fanconi Anemia, Complementation Group Q 46
424 c LYM145 Lymphatic Malformation 5 46
425 HYP236 Hyperbilirubinemia, Rotor Type 45
426 CSL001 Causalgia 45
427 P LPM005 Lipomatosis 45
428 AND014 Androgenic Alopecia 44
429 PTY001 Pityriasis Rosea 44
430 SLT014 Salt and Pepper Developmental Regression Syndrome 44
431 PMP004 Pemphigus Foliaceus 43
432 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
433 HYP457 Hypertrophic Scars 43
434 SYR002 Syringocystadenoma Papilliferum 43
435 MYC013 Mycobacterium Abscessus 42
436 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 42
437 LCH016 Lichen Sclerosus Et Atrophicus 41
438 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 41
439 P HRD018 Hair Disease 41
440 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 41
441 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
442 BLL012 Bullous Impetigo 39
443 URM005 Uremic Pruritus 39
444 c SCN006 Secondary Syphilis 39
445 P UVS001 Uv-Sensitive Syndrome 39
446 NDL003 Nodular Nonsuppurative Panniculitis 38
447 c CNG033 Congenital Syphilis 38
448 c PSR018 Psoriasis 13 38
449 NCR002 Necrobiosis Lipoidica 38
450 CTN011 Cutaneous Porphyria 38
451 NRW001 Norwegian Scabies 38
452 CTN033 Cutaneous Candidiasis 38
453 c SYS043 Systemic Lupus Erythematosus 1 38
454 OCL039 Oculoectodermal Syndrome 37
455 P SYR003 Syringoma 37
456 KLD003 Keloid Formation 37
457 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
458 PSD016 Pseudosarcomatous Fibromatosis 36
459 P YWS001 Yaws 36
460 PHY008 Physical Urticaria 36
461 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 35
462 FXD003 Fixed Drug Eruption 35
463 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
464 PLN001 Plantar Wart 35
465 MLG141 Malignant Atrophic Papulosis 35
466 ANG007 Angiokeratoma Circumscriptum 34
467 CLD011 Cold Urticaria 34
468 PRL042 Proliferating Trichilemmal Cyst 34
469 P CLR001 Clear Cell Acanthoma 34
470 c SBC035 Subacute Cutaneous Lupus Erythematosus 33
471 MLR001 Miliaria Rubra 33
472 INF046 Infantile Digital Fibromatosis 33
473 NVS007 Nevus of Ota 33
474 c LTC001 Late Congenital Syphilis 33
475 KNC002 Knuckle Pads 32
476 SCL025 Scleromyxedema 32
477 c PRK080 Porokeratosis 3, Multiple Types 32
478 PRT094 Protoporphyria, Erythropoietic, X-Linked 32
479 c PRM022 Primary Syphilis 32
480 CRB016 Carbuncle 32
481 INV005 Inverted Follicular Keratosis 32
482 FLL019 Follicular Mucinosis 32
483 c ERL004 Early Yaws 31
484 MLR023 Melorheostosis, Isolated 31
485 ALP048 Alopecia Totalis 31
486 MNG001 Mongolian Spot 31
487 P AST055 Asthma-Related Traits 1 30
488 CHL035 Cholinergic Urticaria 30
489 LCH003 Lichen Nitidus 30
490 c UVS005 Uv-Sensitive Syndrome 1 30
491 UND007 Undifferentiated Connective Tissue Disease 30
492 c AST056 Asthma-Related Traits 2 30
493 c ERL002 Early Congenital Syphilis 29
494 TLG001 Telogen Effluvium 29
495 DFF009 Diffuse Lipomatosis 29
496 FLL042 Folliculotropic Mycosis Fungoides 28
497 c AST034 Asthma-Related Traits 4 28
498 LCH004 Lichen Disease 28
499 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 28
500 HYP180 Hypertrichosis Lanuginosa Congenita 28
501 c LRG002 Large Cell Acanthoma 28
502 IMP001 Impetigo Herpetiformis 28
503 PMP008 Pemphigus Vegetans 28
504 QNQ001 Quinquaud's Decalvans Folliculitis 28
505 VLV039 Vulvar Seborrheic Keratosis 27
506 c PRK075 Porokeratosis 7, Multiple Types 27
507 ANH001 Ainhum 27
508 HYP160 Hyperkeratosis Lenticularis Perstans 27
509 DGT002 Digital Clubbing, Isolated Congenital 27
510 ACR039 Acromegaloid Hypertrichosis Syndrome 27
511 LDD006 Ledderhose Disease 27
512 APC003 Apocrine Adenoma 27
513 CTN005 Cutaneous Diphtheria 26
514 CND001 Conidiobolomycosis 26
515 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 26
516 ECT004 Ecthyma 26
517 HMN008 Hemangioma of Subcutaneous Tissue 25
518 PSD078 Pseudofolliculitis Barbae 25
519 VRL002 Variola Minor 25
520 LDW001 Ludwig's Angina 25
521 c WLL038 Weill-Marchesani Syndrome 3 25
522 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
523 RNG030 Ringed Hair 25
524 INF022 Inflamed Seborrheic Keratosis 24
525 c ALP039 Alopecia Areata 1 24
526 c PSR024 Psoriasis 3 24
527 c PLT022 Pili Torti, Early-Onset 24
528 NDL010 Nodular Hidradenoma 24
529 HRL002 Harlequin Syndrome 23
530 GNR033 Generalized Eruptive Keratoacanthoma 22
531 PRG077 Progressive Nodular Histiocytosis 21
532 MDS003 Mediastinal Lipomatosis 21
533 c PSD047 Pseudo-Turner Syndrome 21
534 LCH008 Lichen Planus Pigmentosus 21
535 MLN005 Melanoacanthoma 21
536 TLN007 Telangiectasia, Hereditary Benign 21
537 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 21
538 WRB006 Warburg-Cinotti Syndrome 20
539 HYP641 Hypotrichosis Simplex of the Scalp 20
540 c PSR026 Psoriasis 5 20
541 c LTY001 Late Yaws 20
542 ULC005 Ulcer of Lower Limbs 20
543 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 20
544 c SYS041 Systemic Lupus Erythematosus 9 19
545 PTR029 Pterygium, Antecubital 19
546 LPS018 Lupus Erythematosus Panniculitis 19
547 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
548 PLD002 Pilodental Dysplasia with Refractive Errors 19
549 c UVS004 Uv-Sensitive Syndrome 2 19
550 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 18
551 TRC052 Trichofolliculoma 18
552 c PRM188 Primary Cutis Verticis Gyrata 18
553 ELS004 Elastofibroma Dorsi 18
554 SND006 Sonoda Syndrome 18
555 CNJ004 Conjunctival Pigmentation 18
556 P PRM210 Primary Lipodystrophy 18
557 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 18
558 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 17
559 c SYS065 Systemic Lupus Erythematosus 11 17
560 WRT005 Warty Dyskeratoma 17
561 SPR072 Superficial Pemphigus 17
562 c PRK084 Porokeratosis 6, Multiple Types 17
563 c PSR029 Psoriasis 9 17
564 ERY050 Erythema Palmare Hereditarium 17
565 ECT111 Ectodermal Dysplasia 15, Hypohidrotic/hair Type 17
566 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17
567 c AST057 Asthma-Related Traits 5 16
568 c CHR471 Chronic Hepatic Porphyria 16
569 HYP039 Hypodermyiasis 16
570 c SYS047 Systemic Lupus Erythematosus 7 16
571 c HRN019 Hair-an Syndrome 16
572 PMP003 Pemphigus and Fogo Selvagem 16
573 ANN014 Annular Lichen Planus 15
574 CNG248 Congenital Smooth Muscle Hamartoma 15
575 c AST032 Asthma-Related Traits 7 15
576 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
577 c PHT011 Photoparoxysmal Response 3 14
578 c PHT009 Photoparoxysmal Response 2 14
579 DRM038 Dermotrichic Syndrome 14
580 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 14
581 ANN013 Annular Atrophic Lichen Planus 14
582 ICH012 Ichthyosis Hystrix Gravior 14
583 LNR012 Linear Verrucous Nevus Syndrome 14
584 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
585 PPL044 Papular Elastorrhexis 14
586 MLR026 Miliaria Crystallina 13
587 c DWL005 Dowling-Degos Disease 3 13
588 RCH009 Roch-Leri Mesosomatous Lipomatosis 13
589 GNT041 Genetic Lipodystrophy 13
590 c AST035 Asthma-Related Traits 6 13
591 c INF119 Infantile Mercury Poisoning 12
592 LSS041 Lessel-Kubisch Syndrome 12
593 P PCH020 Pachyonychia Congenita, Autosomal Recessive 12
594 PRM233 Primary Cutaneous Plasmacytosis 12
595 PLB003 Pili Bifurcati 12
596 c AST033 Asthma-Related Traits 3 12
597 CRC033 Circumscribed Palmoplantar Hypokeratosis 12
598 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 12
599 c PPL045 Papular Mucinosis of Infancy 12
600 MLR025 Miliaria Profunda 11
601 MXL007 Maxillary Sinus Cholesteatoma 10
602 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 10
603 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 10
604 SBC040 Subcutaneous Tissue Disease 10
605 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
606 c AST036 Asthma-Related Traits 8 10
607 DDY001 Didymosis Aplasticosebacea 10
608 FBR005 Fibroepithelial Polyp of Urethra 9
609 FBR006 Fibroepithelial Polyp of the Anus 9
610 SLF008 Self-Healing Papular Mucinosis 9
611 TLN001 Telangiectatic Glomangioma 9
612 VLV014 Vulva Fibroepithelial Polyp 9
613 ANG056 Angora Hair Nevus 8
614 PRR034 Pruritus, Hereditary Localized 8
615 CHL020 Cholesteatoma of Attic 7
616 c BCT003 Bacterial Exanthem 7
617 VLV007 Vulvar Inverted Follicular Keratosis 6
618 STR010 Steroid Lipomatosis 6
619 STR006 Stromal Corneal Pigmentation 6
620 ISL149 Isolated Nail Anomaly 6
621 MLR024 Miliaria Pustulosa 5
622 PLQ001 Plaque-Form Urticaria Pigmentosa 5
623 c ACQ061 Acquired Dermis Elastic Tissue Disorder 5
624 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
625 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
626 MXD049 Mixed Dermis Disorder 4
627 GNT129 Genetic Dermis Elastic Tissue Disorder 3
628 ACQ063 Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue 3
629 INH028 Inherited Non-Syndromic Ichthyosis 3
630 SYN139 Syndromic Nail Anomaly 3
631 OTH022 Other Dermis Disorder 3
632 MLN047 Melanoma-Pancreatic Cancer Syndrome 29
633 SQM006 Squamous Cell Carcinoma 60
634 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 52
635 BP1002 Bap1 Tumor Predisposition Syndrome 41
636 c CLR017 Clear Cell Sarcoma 44
637 P SML002 Small Cell Sarcoma 28
638 ALL005 Allergic Contact Dermatitis of Eyelid 7
639 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 5
640 PRT137 Parthenolide Allergic Contact Dermatitis 5
641 CRR017 Curry-Jones Syndrome 37
642 c CND034 Candidiasis, Familial, 2 35
643 RRG043 Rare Genetic Skin Disease 22
644 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
645 NNN006 Noninfectious Dermatoses of Eyelid 9
646 P THN009 Thanatophoric Dysplasia, Type I 62
647 P MYS005 Myositis 56
648 PRN038 Prune Belly Syndrome 55
649 c THN010 Thanatophoric Dysplasia, Type Ii 45
650 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 31
651 c VRL025 Viral Myositis 17
652 c BCT018 Bacterial Myositis 15
653 CNN005 Connective Tissue Disease 66
654 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 55
655 ESN015 Eosinophilic Fasciitis 47
656 VLV034 Vulva Squamous Cell Carcinoma 47
657 FTL075 Fetal Encasement Syndrome 44
658 LYM008 Lymphangiosarcoma 44
659 SQM002 Squamous Cell Papilloma 42
660 FRN039 Frank-Ter Haar Syndrome 41
661 CNJ018 Conjunctival Squamous Cell Carcinoma 39
662 CPL002 Capillary Lymphangioma 38
663 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
664 IMM193 Immunodeficiency 58 26
665 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
666 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 13
667 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6
668 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 5
669 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 5
670 UND005 Undifferentiated Pleomorphic Sarcoma 66
671 OCL009 Ocular Cancer 55
672 P CPL006 Capillary Hemangioma 51
673 MLR003 Melorheostosis 45
674 ANL017 Anal Squamous Cell Carcinoma 43
675 MND023 Mend Syndrome 43
676 PRS063 Paresthesia 43
677 P PRN020 Paranasal Sinus Cancer 41
678 PNS010 Penis Squamous Cell Carcinoma 40
679 OST014 Osteopoikilosis 40
680 PPL004 Papillary Squamous Carcinoma 40
681 MYX013 Myxofibrosarcoma 38
682 KRT003 Keratinizing Squamous Cell Carcinoma 36
683 MXL004 Maxillary Sinus Squamous Cell Carcinoma 33
684 GLL015 Gallbladder Squamous Cell Carcinoma 31
685 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 30
686 GLT004 Glottis Squamous Cell Carcinoma 27
687 THY027 Thymus Squamous Cell Carcinoma 25
688 SPR023 Supraglottis Squamous Cell Carcinoma 22
689 ULR001 Ulerythema Ophryogenesis 16
690 FRN005 Frontal Sinus Squamous Cell Carcinoma 15
691 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 14
692 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 14
693 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 14
694 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
695 TRC017 Trachea Squamous Cell Carcinoma 13
696 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
697 URT021 Ureter Squamous Cell Carcinoma 12
698 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
699 URT034 Urethra Squamous Cell Carcinoma 11
700 SBG004 Subglottis Squamous Cell Carcinoma 11
701 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
702 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
703 CRN001 Cornea Squamous Cell Carcinoma 10
704 TNG005 Tang Hsi Ryu Syndrome 9
705 ECZ001 Eczematous Dermatitis of Eyelid 6
706 XRD002 Xeroderma of Eyelid 6
707 MLN017 Milner Khallouf Gibson Syndrome 5
708 KZN001 Kuzniecky Andermann Syndrome 5
709 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
710 c PRN030 Paranasal Sinus Cancer, Adult 4
711 RRD016 Rare Developmental Defect with Skin/mucosae Involvement 4
712 NNR014 Non-Rare Skin Disease 3
713 GNT088 Genetic Skin Vascular Disorder 3
714 OBS780 Obsolete: Ichthyosis Associated with a Cornified Cell Envelope and Epidermal Lipid Metabolism Anomaly 3
715 c SYS001 Systemic Lupus Erythematosus 86
716 P ATX030 Ataxia-Telangiectasia 83
717 c FNC027 Fanconi Anemia, Complementation Group a 81
718 P NNN008 Noonan Syndrome 1 76
719 BHC003 Behcet Syndrome 70
720 P OCL013 Oculodentodigital Dysplasia 69
721 P CHR012 Chronic Granulomatous Disease 67
722 CST001 Costello Syndrome 67
723 GRG001 Greig Cephalopolysyndactyly Syndrome 67
724 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
725 P DYS007 Dyskeratosis Congenita 66
726 ART001 Arterial Tortuosity Syndrome 66
727 CHD001 Chediak-Higashi Syndrome 66
728 PLL001 Pallister-Hall Syndrome 64
729 INC021 Incontinentia Pigmenti 63
730 SKN016 Skin Disease 63
731 P CRN108 Cranioectodermal Dysplasia 1 62
732 c FNC043 Fanconi Anemia, Complementation Group E 62
733 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
734 DRM006 Dermatitis 61
735 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 61
736 DRR014 Darier-White Disease 61
737 DCB001 Decubitus Ulcer 60
738 CHR288 Chronic Recurrent Multifocal Osteomyelitis 60
739 KLP010 Klippel-Trenaunay-Weber Syndrome 60
740 TTZ003 Tietz Albinism-Deafness Syndrome 58
741 P FNC044 Fanconi Anemia, Complementation Group C 58
742 MCS006 Macs Syndrome 58
743 CNT047 Contact Dermatitis 57
744 P CND004 Candidiasis 57
745 SJG002 Sjogren-Larsson Syndrome 57
746 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 57
747 DSS009 Disseminated Intravascular Coagulation 57
748 P EXN002 Exanthem 57
749 P EHL001 Ehlers-Danlos Syndrome 57
750 P EPD003 Epidermolysis Bullosa Simplex 56
751 GRN051 Granulomatous Disease, Chronic, X-Linked 56
752 PLM102 Palmoplantar Keratoderma, Epidermolytic 56
753 P ALP008 Alopecia 56
754 SML019 Smallpox 56
755 c WRD030 Waardenburg Syndrome, Type 1 56
756 P INF049 Infantile Myofibromatosis 55
757 CLL003 Cellulitis 54
758 P JNC001 Junctional Epidermolysis Bullosa 54
759 P DRM007 Dermatitis Herpetiformis 54
760 c FNC042 Fanconi Anemia, Complementation Group D2 54
761 CHR100 Chronic Ulcer of Skin 53
762 HDR002 Hidradenitis Suppurativa 53
763 RST011 Restrictive Dermopathy, Lethal 53
764 STF002 Stiff Skin Syndrome 53
765 ICH054 Ichthyosis, X-Linked 53
766 KRT009 Keratosis 53
767 NNT012 Neonatal Jaundice 53
768 P CTN003 Cutaneous Lupus Erythematosus 52
769 PST011 Pustulosis of Palm and Sole 52
770 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
771 c FNC024 Fanconi Anemia, Complementation Group D1 52
772 PYD002 Pyoderma 51
773 c FNC025 Fanconi Anemia, Complementation Group J 51
774 c FNC029 Fanconi Anemia, Complementation Group I 50
775 HYL004 Hyaline Fibromatosis Syndrome 50
776 c NNN010 Noonan Syndrome 3 50
777 SPT005 Spotted Fever 49
778 IMP004 Impetigo 49
779 EPD006 Epidermolysis Bullosa Acquisita 49
780 c PSR023 Psoriasis 1 49
781 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49
782 HDR003 Hidradenitis 49
783 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 49
784 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
785 c CNG208 Congenital Disorder of Glycosylation, Type Iic 48
786 CHL056 Cheilitis 48
787 c LPD021 Lipodystrophy, Familial Partial, Type 3 48
788 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48
789 P HLL001 Hallermann-Streiff Syndrome 48
790 SPR010 Sporotrichosis 48
791 FRN020 Frontal Fibrosing Alopecia 48
792 c FNC028 Fanconi Anemia, Complementation Group L 48
793 c FNC046 Fanconi Anemia, Complementation Group P 47
794 PLM029 Palmoplantar Keratosis 47
795 IRR003 Irritant Dermatitis 47
796 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 47
797 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 47
798 c FNC032 Fanconi Anemia, Complementation Group B 47
799 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 47
800 P TCL004 T-Cell Leukemia 47
801 WDM005 Wiedemann-Rautenstrauch Syndrome 47
802 c SPN106 Spinocerebellar Ataxia 5 47
803 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 47
804 TNP001 Tinea Pedis 47
805 P KRN004 Kernicterus 47
806 ADN001 Adenosine Deaminase Deficiency 47
807 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 46
808 APL023 Aplasia Cutis Congenita, Nonsyndromic 46
809 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 46
810 P HMR005 Hemorrhoid 46
811 c SPN100 Spinocerebellar Ataxia 27 46
812 P SBR004 Seborrheic Dermatitis 45
813 GRN007 Granuloma Annulare 45
814 SPR005 Superficial Basal Cell Carcinoma 45
815 c DRM054 Dermatitis, Atopic, 2 45
816 PGM003 Pigmentation Disease 44
817 CHR031 Chromoblastomycosis 44
818 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 44
819 c HRM012 Hermansky-Pudlak Syndrome 9 44
820 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 44
821 SBC012 Subcorneal Pustular Dermatosis 44
822 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
823 FNT005 Fontaine Progeroid Syndrome 44
824 NDL001 Nodular Malignant Melanoma 44
825 c JVN003 Juvenile Xanthogranuloma 44
826 c FNC045 Fanconi Anemia, Complementation Group F 43
827 SKN005 Skin Atrophy 43
828 VRL003 Variola Major 43
829 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43
830 RTT001 Ritter's Disease 43
831 PRN049 Paraneoplastic Pemphigus 43
832 BSL006 Basaloid Squamous Cell Carcinoma 43
833 EPC005 Epicanthus 43
834 c FNC057 Fanconi Anemia, Complementation Group U 43
835 c LPD019 Lipodystrophy, Partial, Acquired 43
836 ILC002 Ileocolitis 43
837 DSC009 Discoid Lupus Erythematosus 42
838 P GRN010 Granular Cell Tumor 42
839 c HRM006 Hermansky-Pudlak Syndrome 3 42
840 P PHT010 Photoparoxysmal Response 1 42
841 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 42
842 RTC008 Reticulate Acropigmentation of Kitamura 42
843 c CNG185 Congenital Disorder of Glycosylation, Type Iig 42
844 c FNC030 Fanconi Anemia, Complementation Group G 42
845 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 42
846 c FNC058 Fanconi Anemia, Complementation Group R 42
847 c PRK082 Porokeratosis 1, Multiple Types 41
848 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 41
849 ICH020 Ichthyosis Prematurity Syndrome 41
850 FBR003 Fibrous Histiocytoma 41
851 PYG006 Pyogenic Granuloma 40
852 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 40
853 FML091 Familial Tumoral Calcinosis 40
854 ATN014 Autoinflammation with Arthritis and Dyskeratosis 40
855 c FNC052 Fanconi Anemia, Complementation Group T 40
856 CHN002 Chancroid 40
857 MLT016 Multicentric Reticulohistiocytosis 40
858 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 39
859 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
860 HYP137 Hypotrichosis Simplex 39
861 PRM329 Premature Aging 39
862 c FNC056 Fanconi Anemia, Complementation Group V 39
863 PRP005 Parapsoriasis 39
864 NVS015 Nevus Comedonicus 39
865 TNC003 Tinea Corporis 39
866 SKN006 Skin Sarcoidosis 39
867 P FML361 Familial Woolly Hair Syndrome 38
868 c PSR032 Psoriasis 11 38
869 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 38
870 SKN023 Skin Tag 38
871 c BSL011 Basal Cell Carcinoma, Multiple 38
872 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 38
873 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 38
874 VSC012 Vesiculobullous Skin Disease 38
875 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 37
876 CHR463 Chronic Actinic Dermatitis 37
877 SCL001 Scalp Dermatosis 37
878 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 37
879 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
880 CTN013 Cutaneous Anthrax 37
881 PMP010 Pompholyx 37
882 c HRM010 Hermansky-Pudlak Syndrome 7 37
883 ACT167 Acute Generalized Exanthematous Pustulosis 37
884 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 37
885 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 37
886 LYM052 Lymphomatoid Papulosis 36
887 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 36
888 PRR013 Prurigo Nodularis 36
889 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 36
890 TNM001 Tinea Imbricata 36
891 ACN003 Acneiform Dermatitis 36
892 TNC001 Tinea Cruris 36
893 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 36
894 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 35
895 c BRT028 Brittle Cornea Syndrome 1 35
896 c SPN095 Spinocerebellar Ataxia 19 35
897 c WLL036 Weill-Marchesani Syndrome 1 35
898 PLM135 Palmoplantar Keratoderma, Bothnian Type 35
899 GRN003 Granulomatous Dermatitis 35
900 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35
901 c FNC062 Fanconi Anemia, Complementation Group S 34
902 LMY001 Leiomyoma Cutis 34
903 EMY001 Eumycotic Mycetoma 34
904 PHT003 Phototoxic Dermatitis 34
905 DRM003 Dermatosis Papulosa Nigra 34
906 MLR009 Miliaria 34
907 P UNC017 Uncombable Hair Syndrome 1 34
908 PLM137 Palmoplantar Keratoderma and Woolly Hair 34
909 LCH013 Lichen Planus Pemphigoides 34
910 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 34
911 ECC003 Eccrine Papillary Adenoma 34
912 TNF001 Tinea Favosa 33
913 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
914 SWT003 Sweat Gland Disease 33
915 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 33
916 ERY002 Erythema Infectiosum 33
917 HDR001 Hidrocystoma 33
918 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 33
919 c INT059 Internal Hemorrhoid 33
920 LPD026 Lipedema 32
921 SPN011 Spongiotic Dermatitis 32
922 c LCL022 Localized Lipodystrophy 32
923 c BTH006 Bethlem Myopathy 2 32
924 MLN079 Melanoma in Congenital Melanocytic Nevus 32
925 SLF015 Self-Improving Collodion Baby 32
926 c ADM010 Adams-Oliver Syndrome 5 32
927 ALL007 Allergic Urticaria 32
928 SBC019 Subcutaneous Mycosis 31
929 c SBR001 Seborrheic Infantile Dermatitis 31
930 FCL003 Facial Hemiatrophy 31
931 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 31
932 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 31
933 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
934 BSS001 Basosquamous Carcinoma 31
935 LCH014 Lichen Amyloidosis 31
936 PMP009 Pemphigus Erythematosus 31
937 c INH031 Inherited Epidermolysis Bullosa 31
938 ELS002 Elastosis Perforans Serpiginosa 31
939 c ADL027 Adult Dermatomyositis 30
940 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
941 DRM008 Dermatographia 30
942 PMP013 Pemphigus Gestationis 30
943 SLR005 Solar Urticaria 30
944 c CND033 Candidiasis, Familial, 1 30
945 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 30
946 LBM003 Lobomycosis 29
947 VRR003 Verruciform Xanthoma of Skin 29
948 c ALB017 Albinism, Oculocutaneous, Type Vi 29
949 ANG014 Angiokeratoma of Fordyce 29
950 FCL001 Facial Dermatosis 29
951 c TRC100 Trichothiodystrophy 3, Photosensitive 29
952 HYP346 Hypotrichosis and Recurrent Skin Vesicles 29
953 CNT001 Contagious Pustular Dermatitis 29
954 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
955 ERY010 Erythrasma 28
956 CTN010 Cutaneous Ganglioneuroma 28
957 c MLG063 Malignant Dermis Tumor 28
958 c DYS040 Dyskeratosis Congenita Autosomal Recessive 28
959 HRD216 Hereditary Palmoplantar Keratoderma 28
960 ERY066 Erythema Multiforme Major 28
961 GRN032 Granulomatous Slack Skin Disease 28
962 ICH035 Ichthyosis, Hystrix-Like, with Deafness 28
963 ACR097 Acrodermatitis Chronica Atrophicans 28
964 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
965 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 28
966 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 27
967 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 27
968 c ACQ043 Acquired Lipodystrophy 27
969 c CND037 Candidiasis, Familial, 6 27
970 c TYP003 Type I Ehlers-Danlos Syndrome 27
971 FXF002 Fox-Fordyce Disease 27
972 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
973 EXF003 Exfoliative Dermatitis 27
974 HYP855 Hyperpigmentation of the Skin 27
975 P DRM012 Dermis Tumor 27
976 CLR013 Clear Cell Hidradenoma 26
977 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 26
978 c MLG036 Malignant Spiradenoma 26
979 IGP001 Iga Pemphigus 26
980 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 26
981 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 26
982 TNG001 Tungiasis 26
983 c ORF041 Orofaciodigital Syndrome X 26
984 FCL029 Focal Palmoplantar Keratoderma 26
985 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
986 ADS001 Adiaspiromycosis 26
987 MLG032 Malignant Granular Cell Myoblastoma 26
988 ANG006 Angiokeratoma of Mibelli 26
989 c CND036 Candidiasis, Familial, 4 26
990 c LPR007 Leopard Syndrome 3 26
991 P ACN018 Acne Inversa, Familial, 1 26
992 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 26
993 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 26
994 c BSL034 Basal Cell Carcinoma 7 26
995 c CWD009 Cowden Syndrome 7 25
996 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 25
997 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25
998 c FCL046 Focal Facial Dermal Dysplasia 4 25
999 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 25
1000 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1001 GRD004 Gardner-Diamond Syndrome 25
1002 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 25
1003 CRM013 Ceruminous Adenocarcinoma 25
1004 c VRL008 Viral Exanthem 25
1005 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 25
1006 XLN086 X-Linked Ehlers-Danlos Syndrome 25
1007 CHL075 Cheilitis Glandularis 25
1008 c DRM055 Dermatitis, Atopic, 3 25
1009 c PSR025 Psoriasis 4 25
1010 PNS002 Penis Carcinoma in Situ 25
1011 c XLN227 X-Linked Chondrodysplasia Punctata 1 25
1012 ACL002 Acalvaria 25
1013 c FNC061 Fanconi Anemia, Complementation Group W 25
1014 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1015 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1016 SNL003 Senile Angioma 24
1017 c CND025 Candidiasis, Familial, 8 24
1018 c ALP099 Alopecia, Congenital 24
1019 P KRT014 Keratosis Follicularis Spinulosa Decalvans 24
1020 ATM016 Autoimmune Disease of Skin and Connective Tissue 24
1021 P PPL026 Papular Mucinosis 24
1022 CRM002 Ceruminoma 24
1023 MRP002 Morpheaform Basal Cell Carcinoma 24
1024 c SPN372 Spinocerebellar Ataxia 43 24
1025 INT189 Interstitial Granulomatous Dermatitis with Arthritis 24
1026 HYP181 Hypertrichosis Lanuginosa, Acquired 24
1027 c MLN055 Melanoma, Cutaneous Malignant 10 24
1028 c WSK002 Wiskott-Aldrich Syndrome 2 24
1029 CLL039 Collagenosis, Familial Reactive Perforating 24
1030 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1031 c CNG022 Congenital Granular Cell Tumor 24
1032 CTN025 Cutaneous Collagenous Vasculopathy 24
1033 LLS001 Lelis Syndrome 24
1034 ERS002 Erosive Pustular Dermatosis of the Scalp 23
1035 ERY005 Erythematosquamous Dermatosis 23
1036 CLC064 Calcifying Aponeurotic Fibroma 23
1037 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 23
1038 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23
1039 IMM194 Immunodeficiency 59 and Hypoglycemia 23
1040 NVD003 Nevoid Hypermelanosis, Linear and Whorled 23
1041 KYR001 Kyrle Disease 23
1042 P NNP004 Nonphotosensitive Trichothiodystrophy 23
1043 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 23
1044 c ACN016 Acne Inversa, Familial, 3 23
1045 VLV002 Vulva Basal Cell Carcinoma 23
1046 c XLN229 X-Linked Chondrodysplasia Punctata 2 23
1047 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23
1048 P HYD015 Hydroa Vacciniforme 23
1049 P FML337 Familial Chilblain Lupus 22
1050 c MYF010 Myofibromatosis, Infantile, 2 22
1051 c SPN419 Spinocerebellar Ataxia 45 22
1052 PSD043 Pseudopelade of Brocq 22
1053 EXF002 Exfoliative Ichthyosis 22
1054 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 22
1055 BSD001 Basidiobolomycosis 22
1056 HND001 Hand Dermatosis 22
1057 c CND031 Candidiasis, Familial, 9 22
1058 QST001 Question Mark Ears, Isolated 22
1059 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
1060 MSC089 Mosaic Monosomy X 21
1061 MCL047 Macular Amyloidosis 21
1062 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 21
1063 c PSR027 Psoriasis 6 21
1064 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 21
1065 ACQ008 Acquired Hyperkeratosis 21
1066 URT052 Urticaria, Aquagenic 21
1067 ATR052 Atrophic Lichen Planus 21
1068 LPS019 Lupus Erythematosus Tumidus 21
1069 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1070 BLL015 Bullous Lichen Planus 21
1071 c WHT015 White Sponge Nevus 2 21
1072 CYT017 Cytophagic Histiocytic Panniculitis 20
1073 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1074 IND009 Indeterminate Cell Histiocytosis 20
1075 DRM042 Dermatoosteolysis, Kirghizian Type 20
1076 P CTS012 Cutis Verticis Gyrata 20
1077 CLL041 Collagenoma, Familial Cutaneous 20
1078 FLL020 Follicular Infundibulum Tumor 20
1079 c PSR031 Psoriasis 10 20
1080 SKN004 Skin Amelanotic Melanoma 20
1081 HYP854 Hypopigmentation of the Skin 20
1082 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 20
1083 LTN013 Late-Onset Focal Dermal Elastosis 20
1084 EPD082 Epidermolytic Nevus 20
1085 AGG003 Aggressive Digital Papillary Adenocarcinoma 20
1086 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
1087 c TRC094 Trichoepithelioma, Multiple Familial, 2 20
1088 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 20
1089 HRP026 Herpetiform Pemphigus 20
1090 c PRK074 Porokeratosis 9, Multiple Types 20
1091 TRC114 Trichodental Dysplasia 20
1092 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 20
1093 c MLN040 Melanoma, Cutaneous Malignant 7 20
1094 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 19
1095 c SYS051 Systemic Lupus Erythematosus 4 19
1096 PTY005 Pityriasis Lichenoides Chronica 19
1097 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 19
1098 LNR010 Linear Lichen Planus 19
1099 KRT077 Keratinopathic Ichthyosis 19
1100 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
1101 c CRN298 Carney Complex, Type 2 19
1102 AML012 Ameloonychohypohidrotic Syndrome 19
1103 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19
1104 ELS005 Elastoma 18
1105 OTN001 Otoonychoperoneal Syndrome 18
1106 c CND027 Candidiasis, Familial, 3 18
1107 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 18
1108 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 18
1109 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 18
1110 c PLN021 Peeling Skin Syndrome 3 18
1111 PPL038 Papular Xanthoma 18
1112 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 18
1113 c ATM109 Autoimmune Bullous Skin Disease 18
1114 c DRM058 Dermatitis, Atopic, 6 18
1115 P PRM145 Primary Anetoderma 18
1116 c PLL014 Pellagra-Like Syndrome 18
1117 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 17
1118 SCL044 Scalp Syndrome 17
1119 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
1120 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 17
1121 13Q001 13q12.3 Microdeletion Syndrome 17
1122 c INH022 Inherited Ichthyosis 17
1123 c ALP040 Alopecia Areata 2 17
1124 BKS002 Book Syndrome 17
1125 ELS003 Elastoderma 17
1126 GST056 Gastrocutaneous Syndrome 17
1127 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 17
1128 P NDL017 Nodular Cutaneous Amyloidosis 17
1129 ANT063 Anti-P200 Pemphigoid 17
1130 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 17
1131 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
1132 c FML348 Familial Pityriasis Rubra Pilaris 16
1133 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1134 c UNC018 Uncombable Hair Syndrome 3 16
1135 CRN075 Crandall Syndrome 16
1136 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 16
1137 c DRM061 Dermatitis, Atopic, 9 16
1138 CNG238 Congenital Panfollicular Nevus 16
1139 BLL018 Bullous Pyoderma Gangrenosum 16
1140 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1141 LNR009 Linear Atrophoderma of Moulin 16
1142 LGD001 Leg Dermatosis 16
1143 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 15
1144 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
1145 ODN008 Odontomicronychial Dysplasia 15
1146 SPR145 Superficial Fibromatosis 15
1147 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
1148 FCL040 Focal Acral Hyperkeratosis 15
1149 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 15
1150 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1151 c SYS067 Systemic Lupus Erythematosus 15 15
1152 ONY005 Onychomatricoma 15
1153 CNG265 Congenital Erosive and Vesicular Dermatosis 15
1154 TRC111 Trichodysplasia-Xeroderma 15
1155 c SYS045 Systemic Lupus Erythematosus 14 15
1156 HLL006 Halal Setton Wang Syndrome 14
1157 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1158 c RRC001 Rare Cutaneous Lupus Erythematosus 14
1159 HYP742 Hyperpigmentation of Eyelids 14
1160 c BSL025 Basal Cell Carcinoma 2 14
1161 c BSL026 Basal Cell Carcinoma 3 14
1162 PLT010 Pili Torti Onychodysplasia 14
1163 GNR027 Generalized Peeling Skin Syndrome 14
1164 c BSL029 Basal Cell Carcinoma 6 13
1165 c DYS091 Dyschromatosis Universalis Hereditaria 2 13
1166 c BSL028 Basal Cell Carcinoma 5 13
1167 ANN015 Anonychia with Flexural Pigmentation 13
1168 ACH007 Achenbach Syndrome 13
1169 ONY004 Onychocytic Matricoma 13
1170 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 13
1171 ISL136 Isolated Punctate Palmoplantar Keratoderma 13
1172 c RRD053 Rare Disorder with Hypertrichosis 13
1173 PLG007 Pili Gemini 13
1174 CHR175 Chromhidrosis 12
1175 ACR040 Acromelanosis 12
1176 CRP016 Creeping Myiasis 12
1177 c HYD016 Hydroa Vacciniforme, Familial 12
1178 c DFN345 Deafness, Congenital, with Total Albinism 12
1179 CHL021 Cholesteatoma of External Ear 12
1180 c RRL001 Rare Lichen Planus 12
1181 ONY006 Onychodystrophy-Anonychia 11
1182 ACR080 Acral Persistent Papular Mucinosis 11
1183 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 11
1184 c AMY014 Amyloidosis Nodular Localized Cutaneous 11
1185 GNN001 Genuine Diffuse Phlebectasia 11
1186 PST107 Pustular Pyoderma Gangrenosum 11
1187 LBM005 Labia Minora Cancer 10
1188 DSC010 Discrete Papular Lichen Myxedematosus 10
1189 LBM004 Labium Majus Cancer 10
1190 ATY027 Atypical Lichen Myxedematosus 10
1191 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1192 CLC050 Calciphylaxis Cutis 10
1193 WHT012 White Fibrous Papulosis of the Neck 10
1194 ACR075 Acral Dystrophic Epidermolysis Bullosa 9
1195 c ACQ035 Acquired Angioedema Type 1 8
1196 P DSR041 Disorder of Multiple Glycosylation 8
1197 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1198 DCT001 Dioctophymiasis 8
1199 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 8
1200 c ECT114 Ectodermal Dysplasia 10b 8
1201 c ATS439 Autosomal Ichthyosis Syndrome 8
1202 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 8
1203 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 8
1204 NDL018 Nodular Urticaria Pigmentosa 8
1205 RRN013 Rare Nail Tumor 8
1206 FLL021 Follicular Basal Cell Carcinoma 7
1207 BLN022 Blue Nevi, Familial Multiple 7
1208 c GRD008 Grid2-Related Spinocerebellar Ataxia 7
1209 c RRR007 Rare Urticaria 7
1210 PRP010 Prepuce Cancer 7
1211 BNG008 Benign Dermal Neurilemmoma 7
1212 SKN007 Skin Meningioma 7
1213 NDL019 Nodular Lichen Myxedematosus 6
1214 VRR002 Verrucous Keratotic Hemangioma 6
1215 FRG002 Ferguson-Smith Tumor 6
1216 MYC091 Mycosis Fungoides and Variants 6
1217 PRT089 Partial Deep Dermal and Full Thickness Burns 6
1218 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
1219 SQM001 Squamous Cell Papilloma of Skin 6
1220 RRN012 Rare Nevus 6
1221 CNF001 Confetti-Like Macular Atrophy 6
1222 SCL040 Scleromyxedema Without Monoclonal Gammopathy 6
1223 INH027 Inherited Ichthyosis Syndromic Form 5
1224 P DSS029 Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1225 MRG017 Marginal Papular Palmoplantar Keratoderma 5
1226 DRM063 Dermis Disorder 5
1227 P DRM064 Dermis Elastic Tissue Disorder 5
1228 CHN007 Chondroid Syringoma of the Vulva 5
1229 VRR005 Verrucous Nevus Acanthokeratolytic 5
1230 CNG581 Congenital Disorder of Glycosylation with Skin Involvement 5
1231 c ATS464 Autosomal Dominant Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1232 ATS465 Autosomal Dominant Disease Associated with Focal Palmoplantar Keratoderma As a Major Feature 5
1233 c ATS466 Autosomal Recessive Isolated Diffuse Palmoplantar Keratoderma 5
1234 c ATS467 Autosomal Recessive Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1235 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
1236 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
1237 DSS030 Disease with Punctate Palmoplantar Keratoderma As a Major Feature 4
1238 MCP053 Mucopolysaccharidosis with Skin Involvement 4
1239 ACQ062 Acquired Dermis Elastic Tissue Disorder with Increased Elastic Tissue 4
1240 ACQ032 Acquired Kinky Hair Syndrome 4
1241 SYN138 Syndromic Hair Shaft Abnormality 4
1242 ATN019 Autoinflammatory Syndrome with Skin Involvement 3
1243 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 3
1244 OTH023 Other Epidermal Disorder 3
1245 ATS440 Autosomal Ichthyosis Syndrome with Other Associated Signs 3
1246 ATS442 Autosomal Ichthyosis Syndrome with Fatal Disease Course 3
1247 ATS443 Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities 3
1248 ISL150 Isolated Hair Shaft Abnormality 3
1249 HND002 Hand, Foot and Mouth Disease 51
1250 VCC001 Vaccinia 49
1251 CWP001 Cowpox 45
1252 ERY001 Erysipeloid 36
1253 MLK001 Milker's Nodule 33
1254 EXN001 Exanthema Subitum 32
1255 CMM003 Common Wart 31
1256 c TRN014 Transient Arthritis 29
1257 HRP005 Herpetic Whitlow 27
1258 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
1259 LNG039 Lung Squamous Cell Carcinoma 65
1260 VRC005 Varicose Veins 60
1261 IMM080 Immunodeficiency 23 40
1262 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1263 DNT019 Daentl Towsend Siegel Syndrome 12
1264 ADN011 Adenoid Cystic Carcinoma 70
1265 BLL001 Baller-Gerold Syndrome 59
1266 PRX015 Paroxysmal Extreme Pain Disorder 53
1267 RPD002 Rapadilino Syndrome 48
1268 LRY018 Laryngeal Squamous Cell Carcinoma 44
1269 CLN009 Colon Squamous Cell Carcinoma 39
1270 BLD047 Bladder Squamous Cell Carcinoma 30
1271 RNL009 Renal Pelvis Squamous Cell Carcinoma 25
1272 MDD007 Middle Ear Squamous Cell Carcinoma 24
1273 MLN064 Melanoma of Soft Tissue 22
1274 RSS027 Russell-Silver Syndrome, X-Linked 19
1275 LCR007 Lacrimal Gland Squamous Cell Carcinoma 11
1276 EXT016 External Ear Squamous Cell Carcinoma 10
1277 XRD010 Xeroderma Pigmentosum, Variant Type 73
1278 BSL036 Basal Cell Nevus Syndrome 72
1279 c NRF024 Neurofibromatosis, Type I 71
1280 c MCP050 Mucopolysaccharidosis, Type Ii 71
1281 P CRD224 Cardiofaciocutaneous Syndrome 1 70
1282 NVS017 Nevus, Epidermal 68
1283 SKN019 Skin Melanoma 67
1284 ALL003 Allergic Rhinitis 67
1285 P PSD087 Pseudoxanthoma Elasticum 67
1286 P SKN015 Skin Carcinoma 67
1287 SVR097 Severe Cutaneous Adverse Reaction 67
1288 P CCK001 Cockayne Syndrome 66
1289 FCL009 Focal Dermal Hypoplasia 65
1290 P HRM001 Hermansky-Pudlak Syndrome 65
1291 P BRL012 Bare Lymphocyte Syndrome, Type Ii 65
1292 MNK001 Menkes Disease 64
1293 c MLN065 Melanocytic Nevus Syndrome, Congenital 63
1294 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
1295 P PRP029 Porphyria 61
1296 CHN055 Chanarin-Dorfman Syndrome 61
1297 c HRD002 Hereditary Angioedema 61
1298 PHL006 Phelan-Mcdermid Syndrome 61
1299 NLP001 Nail-Patella Syndrome 60
1300 P BTH005 Bethlem Myopathy 1 60
1301 P SPN309 Spinocerebellar Ataxia 6 59
1302 BRN002 Bronchiolitis 59
1303 P PRD006 Prader-Willi Syndrome 59
1304 DBN001 Dubin-Johnson Syndrome 59
1305 PLM026 Pilomatrixoma 59
1306 P DST002 Distal Arthrogryposis 58
1307 P URT039 Urticaria 58
1308 TMR010 Tumor Predisposition Syndrome 58
1309 c DWL002 Dowling-Degos Disease 1 58
1310 LYM021 Lymphadenitis 58
1311 ALP097 Alopecia Universalis Congenita 56
1312 P PSD015 Pseudohypoparathyroidism 56
1313 ICH001 Ichthyosis Vulgaris 55
1314 PRP082 Porphyria, Congenital Erythropoietic 55
1315 HYP691 Hypomelanosis of Ito 55
1316 ALL010 Allergic Contact Dermatitis 55
1317 P PMP001 Pemphigus 55
1318 OCL020 Ocular Cicatricial Pemphigoid 54
1319 PNM001 Pneumocystosis 54
1320 P LRY044 Larynx Cancer 54
1321 c ART144 Arthrogryposis, Distal, Type 1a 54
1322 P CLS054 Classic Ehlers-Danlos Syndrome 54
1323 P NLD001 Nail Disease 54
1324 MLT135 Multiple Sulfatase Deficiency 53
1325 c ACT020 Acute T Cell Leukemia 53
1326 P EPD016 Epidermolysis Bullosa 53
1327 MMM001 Mammary Paget's Disease 53
1328 c BRL011 Bare Lymphocyte Syndrome, Type I 53
1329 OCC006 Occipital Horn Syndrome 52
1330 P SML001 Small Cell Carcinoma 52
1331 ERD001 Erdheim-Chester Disease 52
1332 P ACT008 Actinic Keratosis 52
1333 JHN001 Johanson-Blizzard Syndrome 52
1334 ENC055 Encephalopathy, Ethylmalonic 52
1335 c PSR017 Psoriasis 2 52
1336 NRL002 Neurilemmomatosis 51
1337 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
1338 GCH018 Gaucher Disease, Perinatal Lethal 50
1339 RSD004 Rosai-Dorfman Disease 50
1340 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 50
1341 c ACT078 Acute Porphyria 49
1342 MNL001 Monilethrix 49
1343 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 49
1344 P CNG436 Congenital Disorder of Deglycosylation 49
1345 c LRG001 Large Cell Carcinoma 49
1346 SKN013 Skin Benign Neoplasm 49
1347 c ART061 Arthrogryposis, Distal, Type 2a 49
1348 c ART120 Arthrogryposis, Distal, Type 3 49
1349 c ART155 Arthrogryposis, Distal, Type 2b1 48
1350 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 48
1351 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 48
1352 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 48
1353 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 48
1354 HLC001 Holocarboxylase Synthetase Deficiency 48
1355 ERY004 Erysipelas 48
1356 c SHR030 Short Qt Syndrome 48
1357 MLT152 Multiple Self-Healing Squamous Epithelioma 48
1358 SCH038 Schopf-Schulz-Passarge Syndrome 47
1359 c CNG206 Congenital Disorder of Glycosylation, Type Ie 47
1360 WRS002 Warsaw Breakage Syndrome 47
1361 ANL022 Anal Fistula 47
1362 RYN003 Reynolds Syndrome 47
1363 c WRD020 Waardenburg Syndrome, Type 4a 47
1364 ALB002 Albinism 46
1365 KRT013 Keratolytic Winter Erythema 46
1366 ENC010 Encephalocraniocutaneous Lipomatosis 46
1367 P WHT013 White Sponge Nevus 1 46
1368 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 46
1369 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 46
1370 P PRD037 Periodontal Ehlers-Danlos Syndrome 46
1371 c EPD030 Epidermolysis Bullosa Simplex, Localized 45
1372 SCL002 Scleredema Adultorum 45
1373 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44
1374 ECZ002 Eczema Herpeticum 44
1375 LRY022 Laryngoonychocutaneous Syndrome 44
1376 ICH002 Ichthyosis Bullosa of Siemens 44
1377 ATR013 Atrichia with Papular Lesions 44
1378 P FRN036 Frontonasal Dysplasia 1 44
1379 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 44
1380 STT007 Steatocystoma Multiplex 44
1381 c HRM009 Hermansky-Pudlak Syndrome 6 44
1382 CMP007 Complement Component 5 Deficiency 43
1383 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 43
1384 WYR002 Weyers Acrofacial Dysostosis 43
1385 c ART119 Arthrogryposis, Distal, Type 5 43
1386 LSS001 Loiasis 42
1387 NDL009 Nodular Basal Cell Carcinoma 42
1388 CTS002 Cat-Scratch Disease 42
1389 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 42
1390 EPD029 Epidermolysis Bullosa Simplex, Generalized 42
1391 SBC011 Sebaceous Adenocarcinoma 42
1392 P GLP001 Geleophysic Dysplasia 42
1393 c CHR576 Chronic Beryllium Disease 42
1394 YLL001 Yellow Nail Syndrome 42
1395 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
1396 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
1397 SBC017 Sebaceous Gland Disease 41
1398 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 41
1399 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 41
1400 EHL015 Ehlers-Danlos Syndrome Progeroid Type 41
1401 CTN004 Cutaneous Fibrous Histiocytoma 41
1402 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
1403 LPM010 Lipomatosis, Multiple Symmetric 41
1404 CLR015 Clear Cell Basal Cell Carcinoma 40
1405 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 40
1406 SWT002 Sweat Gland Cancer 40
1407 ACR004 Acrokeratosis Verruciformis 40
1408 ACR005 Acrodermatitis 40
1409 P BRY005 Beryllium Disease 40
1410 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 40
1411 c PLN017 Peeling Skin Syndrome 1 40
1412 TRC077 Trichomegaly 40
1413 P BLL007 Bullous Skin Disease 40
1414 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 39
1415 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
1416 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
1417 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 39
1418 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1419 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 39
1420 PMP002 Pemphigoid Gestationis 39
1421 c SPN104 Spinocerebellar Ataxia 34 39
1422 c PSR028 Psoriasis 7 39
1423 c MCP051 Mucopolysaccharidosis, Type Ix 39
1424 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 39
1425 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39
1426 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 38
1427 c PLN018 Peeling Skin Syndrome 2 38
1428 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38
1429 c SPN103 Spinocerebellar Ataxia 31 38
1430 CHL073 Cholestasis-Lymphedema Syndrome 38
1431 c ART147 Arthrogryposis, Distal, Type 7 38
1432 MCP033 Mucopolysaccharidoses 38
1433 MYP001 Myoepithelioma 37
1434 c HMN027 Hemangioma, Capillary Infantile 37
1435 c SPN266 Spinocerebellar Ataxia 35 37
1436 CYS004 Cystic Basal Cell Carcinoma 37
1437 NNL001 Non-Langerhans-Cell Histiocytosis 37
1438 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1439 MTT001 Metatypical Basal Cell Carcinoma 36
1440 c LPR012 Leopard Syndrome 1 36
1441 c CRN109 Cranioectodermal Dysplasia 2 36
1442 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1443 CHN040 Choanal Atresia and Lymphedema 36
1444 XNT009 Xanthoma Disseminatum 36
1445 DRM009 Dermatomycosis 36
1446 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 36
1447 PLV001 Pelvic Lipomatosis 35
1448 TTH004 Tethered Spinal Cord Syndrome 35
1449 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 35
1450 SBC009 Sebaceous Adenoma 35
1451 c CNG192 Congenital Disorder of Glycosylation, Type Ik 35
1452 c HRM011 Hermansky-Pudlak Syndrome 8 35
1453 c NNN013 Noonan Syndrome 6 35
1454 DFN007 Deafness Enamel Hypoplasia Nail Defects 35
1455 MLG007 Malignant Skin Fibrous Histiocytoma 34
1456 P DYS023 Dyschromatosis Universalis Hereditaria 34
1457 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
1458 PRP093 Pierpont Syndrome 34
1459 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 34
1460 c WRD026 Waardenburg Syndrome, Type 2c 34
1461 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 34
1462 SGN001 Signet Ring Basal Cell Carcinoma 34
1463 MNS001 Mansonelliasis 33
1464 P INH011 Inherited Bone Marrow Failure Syndromes 33
1465 GTT002 Guttate Psoriasis 33
1466 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 33
1467 c ART104 Arthrogryposis, Distal, Type 5d 33
1468 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 33
1469 SWT004 Sweat Gland Neoplasm 33
1470 PRG023 Progeroid Short Stature with Pigmented Nevi 33
1471 KRT058 Keratoderma, Palmoplantar, with Deafness 33
1472 c ADM007 Adams-Oliver Syndrome 2 33
1473 VRS002 Virus-Associated Trichodysplasia Spinulosa 32
1474 SCL017 Sclerosing Hemangioma 32
1475 c SPN383 Spinocerebellar Ataxia 42 32
1476 ORL022 Oral Erosive Lichen 32
1477 NRD001 Neurodermatitis 32
1478 c GLP003 Geleophysic Dysplasia 1 32
1479 BJL001 Bejel 32
1480 SBC018 Sebaceous Gland Neoplasm 32
1481 NRT002 Neurotic Excoriation 32
1482 c PSD104 Pseudohypoparathyroidism, Type Ii 32
1483 c SPN105 Spinocerebellar Ataxia 4 31
1484 c DRM060 Dermatitis, Atopic, 8 31
1485 c CRB098 Cerebrooculofacioskeletal Syndrome 2 31
1486 PRM206 Premature Aging Syndrome, Penttinen Type 31
1487 DFF038 Diffuse Palmoplantar Keratoderma 31
1488 c SCN005 Secondary Hypertrophic Osteoarthropathy 31
1489 SKN002 Skin Lipoma 31
1490 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
1491 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 31
1492 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 31
1493 c VHW003 Vohwinkel Syndrome, Variant Form 31
1494 ERY069 Erythrokeratoderma ''en Cocardes'' 30
1495 P SKN009 Skin Granular Cell Tumor 30
1496 c ICH023 Ichthyosis, Acquired 30
1497 P FML313 Familial Progressive Hyperpigmentation 30
1498 STY001 Satoyoshi Syndrome 30
1499 GRV012 Grover's Disease 30
1500 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 30
1501 c GLP004 Geleophysic Dysplasia 2 30
1502 c NLX003 Neu-Laxova Syndrome 2 30
1503 RNG003 Ring Dermoid of Cornea 29
1504 ATR054 Atrophoderma Vermiculata 29
1505 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 29
1506 STR096 Striate Palmoplantar Keratoderma 29
1507 P ADL037 Adult Xanthogranuloma 29
1508 HPR006 Heparin Cofactor Ii Deficiency 29
1509 c BNM010 Bone Marrow Failure Syndrome 1 29
1510 CTN012 Cutaneous Leiomyosarcoma 29
1511 BSN001 Basan Syndrome 29
1512 APC005 Apocrine Sweat Gland Neoplasm 29
1513 OCC001 Occupational Dermatitis 29
1514 c FRN033 Frontonasal Dysplasia 2 29
1515 SPT022 Spitzoid Melanoma 29
1516 SRC003 Sarcomatoid Basal Cell Carcinoma 28
1517 c PHL010 Peho-Like Syndrome 28
1518 BNG069 Benign Cephalic Histiocytosis 28
1519 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 28
1520 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 28
1521 HRF001 Hair Follicle Neoplasm 28
1522 CTN027 Cutaneous Mastocytoma 28
1523 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 28
1524 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
1525 HRY005 Hairy Elbows 27
1526 LSN002 Loose Anagen Hair Syndrome 27
1527 BLL002 Balloon Cell Malignant Melanoma 27
1528 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 27
1529 c ART112 Arthrogryposis, Distal, Type 10 27
1530 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 27
1531 ERY014 Erythrokeratoderma 27
1532 DPT001 Dipetalonemiasis 27
1533 MDD015 Mid-Dermal Elastolysis 27
1534 c CRD163 Cardiofaciocutaneous Syndrome 2 27
1535 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 27
1536 OMS001 Omsk Hemorrhagic Fever 27
1537 IMM153 Immunodeficiency 51 27
1538 c BNM013 Bone Marrow Failure Syndrome 3 26
1539 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 26
1540 EPD010 Epidermal Appendage Tumor 26
1541 ACR034 Acrogeria, Gottron Type 26
1542 c CRD167 Cardiofaciocutaneous Syndrome 4 26
1543 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1544 TNP002 Tinea Profunda 26
1545 c ART157 Arthrogryposis, Distal, Type 2b3 26
1546 c ART156 Arthrogryposis, Distal, Type 2b2 26
1547 TNM002 Tinea Manuum 26
1548 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
1549 GNR023 Generalized Eruptive Histiocytosis 26
1550 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 26
1551 c JVN011 Juvenile Dermatitis Herpetiformis 25
1552 c DRM059 Dermatitis, Atopic, 7 25
1553 c CRD164 Cardiofaciocutaneous Syndrome 3 25
1554 PGM030 Pigmentation Anomaly of the Skin 25
1555 RDT005 Radiation Induced Cancer 25
1556 DRM043 Dermochondrocorneal Dystrophy 25
1557 FBR015 Fibroepithelial Basal Cell Carcinoma 25
1558 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 25
1559 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
1560 TNB001 Tinea Barbae 24
1561 MRN005 Marie Unna Congenital Hypotrichosis 24
1562 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
1563 GNT018 Gianotti Crosti Syndrome 24
1564 c WLL018 Woolly Hair, Autosomal Dominant 24
1565 c BNM032 Bone Marrow Failure Syndrome 4 24
1566 c ART060 Arthrogryposis, Distal, Type 1b 24
1567 HYP267 Hyperchlorhidrosis, Isolated 24
1568 EPD052 Epidermolysis Bullosa Simplex Superficialis 24
1569 SKN010 Skin Epithelioid Hemangioma 24
1570 CNR001 Coenurosis 24
1571 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
1572 c ART131 Arthrogryposis, Distal, Type 4 24
1573 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 23
1574 c BNM011 Bone Marrow Failure Syndrome 2 23
1575 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 23
1576 c BLP049 Blepharocheilodontic Syndrome 2 23
1577 c GLP007 Geleophysic Dysplasia 3 23
1578 c LYM147 Lymphatic Malformation 3 23
1579 c ART128 Arthrogryposis, Distal, Type 6 23
1580 LNR005 Linear Scleroderma 23
1581 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 23
1582 MTH082 Methemoglobinemia and Ambiguous Genitalia 22
1583 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 22
1584 JNT001 Joint Laxity, Familial 22
1585 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 22
1586 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 22
1587 c DRM057 Dermatitis, Atopic, 5 22
1588 c UVS003 Uv-Sensitive Syndrome 3 22
1589 c BNM033 Bone Marrow Failure Syndrome 5 22
1590 PHK008 Phakomatosis Cesioflammea 22
1591 PPL017 Papillary Hidradenoma 22
1592 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 22
1593 c PSR033 Psoriasis 12 21
1594 c SYS069 Systemic Lupus Erythematosus 6 21
1595 c DWL003 Dowling-Degos Disease 2 21
1596 c CWD005 Cowden Syndrome 4 21
1597 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
1598 c MNT181 Mental Retardation, Autosomal Recessive 35 21
1599 SKN001 Skin Angiosarcoma 21
1600 ECC005 Eccrine Adenocarcinoma 21
1601 LNT008 Lentiginosis, Inherited Patterned 21
1602 P ALP068 Alopecia-Intellectual Disability Syndrome 21
1603 SYN120 Syndromic Oculocutaneous Albinism 20
1604 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 20
1605 ACK001 Ackerman Syndrome 20
1606 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 20
1607 c DRM056 Dermatitis, Atopic, 4 20
1608 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 20
1609 HST018 Histiocytosis, Progressive Mucinous 20
1610 c DWL004 Dowling-Degos Disease 4 20
1611 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1612 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
1613 c SPN259 Spinocerebellar Ataxia 32 20
1614 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 20
1615 TLN013 Telangiectasia Macularis Eruptive Perstans 20
1616 HYP182 Hypertrichosis, Anterior Cervical 19
1617 FRN028 Furunculous Myiasis 19
1618 PBL004 Piebald Trait with Neurologic Defects 19
1619 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 19
1620 c WLL035 Woolly Hair, Autosomal Recessive 3 19
1621 ANL016 Anal Margin Carcinoma 19
1622 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
1623 HYP489 Hypotrichosis-Deafness Syndrome 19
1624 c UNC019 Uncombable Hair Syndrome 2 19
1625 ALL002 Allergic Cutaneous Vasculitis 19
1626 CLL040 Callosities, Hereditary Painful 18
1627 ACT160 Actinic Lichen Planus 18
1628 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18
1629 SCL051 Scalp Defects and Postaxial Polydactyly 18
1630 c PLN025 Peeling Skin Syndrome 5 18
1631 INF127 Infective Dermatitis Associated with Htlv-1 18
1632 RDR002 Rodrigues Blindness 18
1633 CTN031 Cutaneous Pseudolymphoma 18
1634 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1635 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1636 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 18
1637 PKL003 Poikiloderma, Hereditary Sclerosing 17
1638 DSC014 Discoid Fibromas, Familial Multiple 17
1639 c PSR030 Psoriasis 8 17
1640 TRG017 Trigeminal Trophic Syndrome 17
1641 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1642 PRN056 Parana Hard-Skin Syndrome 17
1643 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 17
1644 AQG004 Aquagenic Syringeal Acrokeratoderma 17
1645 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 16
1646 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16
1647 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 16
1648 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 16
1649 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1650 c SYS052 Systemic Lupus Erythematosus 13 16
1651 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
1652 c ART054 Arthrogryposis, Distal, Type 2e 16
1653 CLS055 Classic Pyoderma Gangrenosum 16
1654 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
1655 ORL024 Oral and Digital Anomalies with Ichthyosis 15
1656 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1657 c SYR009 Syringomas, Multiple 15
1658 c SX2003 Six2-Related Frontonasal Dysplasia 15
1659 ERY049 Erythroderma, Lethal Congenital 15
1660 FLT007 Flotch Syndrome 15
1661 c PLN016 Peeling Skin Syndrome Type a 15
1662 HRD035 Hair Defect with Photosensitivity and Mental Retardation 15
1663 HMT019 Hematohidrosis 15
1664 PHK006 Phakomatosis Pigmentokeratotica 14
1665 ACR120 Acrokeratoderma 14
1666 LCL017 Localized Pagetoid Reticulosis 14
1667 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 14
1668 c LCH017 Lichen Planus, Familial 14
1669 LNR017 Linear Focal Elastosis 13
1670 PNS008 Penis Basal Cell Carcinoma 13
1671 EPD090 Epidermal Disease 13
1672 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 13
1673 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 13
1674 BLL014 Bullous Diffuse Cutaneous Mastocytosis 12
1675 ATR020 Atrophoderma of Pierini and Pasini 12
1676 RRP024 Rare Photodermatosis 12
1677 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 12
1678 c ACQ036 Acquired Angioedema Type 2 12
1679 c PSR034 Psoriasis 15 12
1680 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1681 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
1682 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
1683 CTN008 Cutaneous Liposarcoma 11
1684 c HRD203 Hereditary Lymphedema Id 11
1685 SCR010 Scrotal Angioma 11
1686 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 11
1687 MCD003 Mcdowall Syndrome 11
1688 c LRY009 Larynx Carcinoma in Situ 11
1689 PNN006 Panniculitis-Induced Localized Lipodystrophy 10
1690 c KRT070 Keratosis, Familial Actinic 10
1691 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 10
1692 DRM002 Dermoid Cyst of Skin 9
1693 BSL002 Basaloid Squamous Cell Skin Carcinoma 9
1694 ACN008 Acantholytic Squamous Cell Skin Carcinoma 9
1695 ISL103 Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 9
1696 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
1697 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1698 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8
1699 P RRC010 Rare Capillary Malformation 8
1700 P ISL140 Isolated Diffuse Palmoplantar Keratoderma 8
1701 HYP046 Hypopigmentation of Eyelid 8
1702 c KRN003 Kernicterus Due to Isoimmunization 8
1703 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 8
1704 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 8
1705 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1706 HRD213 Hereditary Poikiloderma 8
1707 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 8
1708 MLG109 Malignant Melanoma of the Mucosa 7
1709 c PLN027 Peeling Skin Syndrome Type C 7
1710 CLR010 Clear Cell Squamous Cell Skin Carcinoma 7
1711 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 6
1712 PHK009 Phakomatosis Cesiomarmorata 6
1713 ECS003 Eec Syndrome and Related Disorders 6
1714 RRC009 Rare Cutaneous Lichen Planus 6
1715 c ATM107 Autoimmune Disease with Skin Involvement 6
1716 P DSS028 Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 6
1717 RRM007 Rare Mucosal Lichen Planus 6
1718 ISL141 Isolated Focal Palmoplantar Keratoderma 6
1719 PHK010 Phakomatosis Spilorosea 6
1720 NVD002 Nevada Syndrome 5
1721 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1722 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
1723 TYP022 Typical Urticaria Pigmentosa 5
1724 SPR146 Suprabasal Epidermolysis Bullosa Simplex 5
1725 c ATS444 Autosomal Recessive Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1726 ATS445 Autosomal Dominant Diffuse Mutilating Palmoplantar Keratoderma 5
1727 c ATS468 Autosomal Dominant Isolated Diffuse Palmoplantar Keratoderma 5
1728 CNG614 Congenital Primary Lymphedema of Gordon 5
1729 MTB014 Metabolic Disease with Skin Involvement 4
1730 TXC023 Toxic Dermatosis 4
1731 c ATS446 Autosomal Recessive Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1732 P ATS447 Autosomal Dominant Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1733 EPD089 Epidermal Appendage Anomaly 4
1734 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 4
1735 OTH019 Other Metabolic Disease with Skin Involvement 4
1736 P SYS073 Systemic Disease with Skin Involvement 3
1737 OTH020 Other Acquired Skin Disease 3
1738 UNC024 Unclassified Genetic Skin Disorder 3
1739 PNC131 Punctate Acrokeratoderma Freckle-Like Pigmentation 3
1740 ANT024 Anthrax Disease 58
1741 MLL001 Molluscum Contagiosum 49
1742 SPR020 Superficial Mycosis 34
1743 GRN005 Granuloma Inguinale 31
1744 P LYN001 Lynch Syndrome 77
1745 HYP780 Hypoadrenocorticism, Familial 62
1746 c LYN004 Lynch Syndrome I 58
1747 BDH001 Boudhina Yedes Khiari Syndrome 8
1748 c TBR025 Tuberous Sclerosis 1 76
1749 P WSK001 Wiskott-Aldrich Syndrome 71
1750 c TBR026 Tuberous Sclerosis 2 71
1751 P PRP003 Porphyria Cutanea Tarda 67
1752 BLM001 Bloom Syndrome 66
1753 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
1754 FML089 Familial Thoracic Aortic Aneurysm and Dissection 66
1755 P DRM053 Dermatitis, Atopic 66
1756 c PRD013 Periodic Fever, Familial, Autosomal Dominant 65
1757 CNC002 Cinca Syndrome 65
1758 P RTH006 Rothmund-Thomson Syndrome, Type 2 64
1759 P LPR002 Leopard Syndrome 64
1760 KHL003 Kohlschutter-Tonz Syndrome 64
1761 GT001 Gout 63
1762 P HRD008 Hereditary Hemorrhagic Telangiectasia 62
1763 P PSR002 Psoriasis 62
1764 c LCL006 Localized Scleroderma 62
1765 BLL006 Bullous Pemphigoid 62
1766 P ANP001 Anaplastic Large Cell Lymphoma 61
1767 P BRN019 Bernard-Soulier Syndrome 60
1768 NTH001 Netherton Syndrome 60
1769 CHL028 Childhood Type Dermatomyositis 60
1770 c DNG003 Dengue Disease 59
1771 c LPM012 Lipomatosis, Multiple 59
1772 c ALB021 Albinism, Oculocutaneous, Type Ii 59
1773 P WRD001 Waardenburg's Syndrome 59
1774 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
1775 VLV032 Vulva Cancer 59
1776 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 58
1777 P DNG005 Dengue Virus 57
1778 c CHL140 Chilblain Lupus 1 57
1779 c ADL017 Adult T-Cell Leukemia 57
1780 PSD014 Pseudopseudohypoparathyroidism 56
1781 SKN022 Skin Squamous Cell Carcinoma 56
1782 DYS164 Dyskeratosis Congenita, X-Linked 56
1783 KRT071 Keratosis, Seborrheic 56
1784 EPD002 Epidermolytic Hyperkeratosis 56
1785 CHR105 Choreoacanthocytosis 55
1786 PYD001 Pyoderma Gangrenosum 54
1787 c CNG012 Congenital Generalized Lipodystrophy 54
1788 P LCH002 Lichen Planus 54
1789 P ANG015 Angioedema 54
1790 P PRM018 Primary Hypertrophic Osteoarthropathy 54
1791 CYS005 Cysticercosis 54
1792 PRC002 Paracoccidioidomycosis 53
1793 ACR014 Acral Lentiginous Melanoma 53
1794 c WRD033 Waardenburg Syndrome, Type 2e 53
1795 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 53
1796 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52
1797 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 51
1798 STR008 Strongyloidiasis 51
1799 RVS001 Revesz Syndrome 50
1800 NPH018 Nephrogenic Systemic Fibrosis 50
1801 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 50
1802 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50
1803 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50
1804 CCT002 Cicatricial Pemphigoid 50
1805 P ORF001 Orofaciodigital Syndrome 48
1806 MLT145 Multiple Enchondromatosis, Maffucci Type 48
1807 c BSL024 Basal Cell Carcinoma 1 47
1808 IRN004 Iron-Refractory Iron Deficiency Anemia 47
1809 c WRD019 Waardenburg Syndrome, Type 4b 47
1810 CRY008 Cryopyrin-Associated Periodic Syndrome 47
1811 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
1812 PGT003 Paget Disease, Extramammary 46
1813 c ORF035 Orofaciodigital Syndrome Iv 46
1814 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
1815 PKL001 Poikiloderma with Neutropenia 45
1816 c SPN312 Spinocerebellar Ataxia 14 45
1817 c WRD031 Waardenburg Syndrome, Type 3 45
1818 ART035 Arterial Calcification of Infancy 45
1819 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 45
1820 MLD006 Mal De Meleda 45
1821 P VHW001 Vohwinkel Syndrome 45
1822 P PLL002 Pellagra 45
1823 c WRD024 Waardenburg Syndrome, Type 4c 45
1824 P PLN008 Peeling Skin Syndrome 44
1825 ACT164 Actinic Prurigo 44
1826 BZX001 Bazex Syndrome 44
1827 SPH001 Sapho Syndrome 44
1828 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 44
1829 BRT059 Bartsocas-Papas Syndrome 43
1830 c ATS393 Autosomal Recessive Cutis Laxa Type I 43
1831 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 43
1832 KMR001 Kimura Disease 43
1833 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 43
1834 ORL015 Oral Squamous Cell Carcinoma 43
1835 ADP001 Adiposis Dolorosa 43
1836 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
1837 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1838 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1839 c PCH012 Pachyonychia Congenita 2 42
1840 P DWL001 Dowling-Degos Disease 42
1841 PHH001 Phaeohyphomycosis 42
1842 c FML117 Familial Cold Autoinflammatory Syndrome 2 41
1843 CLD014 Cole Disease 41
1844 MCR016 Micronodular Basal Cell Carcinoma 41
1845 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
1846 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1847 c SPN265 Spinocerebellar Ataxia 36 40
1848 c NNN009 Noonan Syndrome 2 40
1849 LNR006 Linear Iga Disease 40
1850 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 40
1851 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 40
1852 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 40
1853 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 40
1854 EPD022 Epidermolysis Bullosa Pruriginosa 40
1855 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 39
1856 ANC001 Ancylostomiasis 39
1857 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 39
1858 c ADM005 Adams-Oliver Syndrome 1 39
1859 c ACQ012 Acquired Angioedema 39
1860 TYL002 Tylosis with Esophageal Cancer 39
1861 ANG016 Angiokeratoma 38
1862 c MCP048 Mucopolysaccharidosis, Type Ivb 38
1863 P PST059 Pustular Psoriasis 38
1864 CYL004 Cylindromatosis, Familial 37
1865 c HMN022 Human T-Cell Leukemia Virus Type 2 37
1866 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
1867 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
1868 c GRS012 Griscelli Syndrome, Type 3 37
1869 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 37
1870 c NNN020 Noonan Syndrome 7 37
1871 TRM011 Terminal Osseous Dysplasia 37
1872 c WRD022 Waardenburg Syndrome, Type 2d 36
1873 HDR004 Hidradenoma 36
1874 P LRG012 Large Congenital Melanocytic Nevus 36
1875 VBR001 Vibratory Urticaria 36
1876 c DRM040 Dermatitis Herpetiformis, Familial 35
1877 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
1878 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 35
1879 c MLN043 Melanoma, Cutaneous Malignant 8 35
1880 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
1881 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 35
1882 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
1883 c PRM301 Primary Cutaneous T-Cell Lymphoma 35
1884 LMB008 Limb-Mammary Syndrome 35
1885 INF057 Inflammatory Linear Verrucous Epidermal Nevus 34
1886 HNS001 Hansen's Disease 34
1887 c ALB016 Albinism, Oculocutaneous, Type Vii 34
1888 TRC118 Trichodentoosseous Syndrome 34
1889 ODN009 Odontoonychodermal Dysplasia 34
1890 P HRD214 Hereditary Periodic Fever Syndrome 34
1891 P SPR013 Spiradenoma 33
1892 c ORF038 Orofaciodigital Syndrome Iii 33
1893 NTR042 Neutrophilic Dermatosis, Acute Febrile 33
1894 MLG048 Malignant Acrospiroma 33
1895 TRN029 Transient Bullous Dermolysis of the Newborn 32
1896 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 32
1897 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 32
1898 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 32
1899 PGM002 Pigmented Basal Cell Carcinoma 32
1900 CHN019 Chand Syndrome 32
1901 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1902 CLR007 Colorado Tick Fever 31
1903 RMB001 Rombo Syndrome 31
1904 P RRL003 Rare Lymphatic Malformation 31
1905 P ALB003 Albinism-Deafness Syndrome 31
1906 DRF001 Dirofilariasis 31
1907 CFL005 Cafe-Au-Lait Spots, Multiple 31
1908 INF027 Infiltrative Basal Cell Carcinoma 31
1909 P PLT008 Pili Torti 31
1910 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 31
1911 SHH004 Shaheen Syndrome 30
1912 c FML324 Familial Porphyria Cutanea Tarda 30
1913 KRT047 Keratosis Pilaris Atrophicans 30
1914 KPP002 Keppen-Lubinsky Syndrome 30
1915 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 30
1916 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 30
1917 c PRP091 Porphyria Cutanea Tarda, Type I 30
1918 c ANG045 Angioedema, Hereditary, Type Iii 29
1919 SKN018 Skin Hemangioma 29
1920 c WRD010 Waardenburg Syndrome Type 4 29
1921 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 29
1922 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 29
1923 NBL001 Nablus Mask-Like Facial Syndrome 29
1924 EYL002 Eyelid Carcinoma 29
1925 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1926 MRL006 Meralgia Paraesthetica, Familial 29
1927 CTN009 Cutaneous Adenocystic Carcinoma 28
1928 HST022 Histiocytoma, Angiomatoid Fibrous 28
1929 c HRD100 Hereditary Lymphedema Ic 28
1930 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 28
1931 DRM021 Dermatopathia Pigmentosa Reticularis 28
1932 PRN017 Perianal Hematoma 28
1933 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 28
1934 SKN021 Skin Sarcoma 28
1935 c SPN427 Spinocerebellar Ataxia 48 27
1936 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1937 c PLN024 Peeling Skin Syndrome 4 27
1938 PTY007 Pityriasis Rotunda 27
1939 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 27
1940 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 26
1941 NCR009 Necrobiotic Xanthogranuloma 26
1942 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 26
1943 P PNC113 Punctate Palmoplantar Keratoderma 25
1944 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
1945 OCL030 Oculoauriculofrontonasal Syndrome 25
1946 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
1947 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 25
1948 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 25
1949 P FCL023 Focal Facial Dermal Dysplasia 24
1950 PGM010 Pigmented Purpuric Eruption 24
1951 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 24
1952 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23
1953 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 23
1954 c SYS038 Systemic Lupus Erythematosus 2 23
1955 SKN011 Skin Pilomatrix Carcinoma 23
1956 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 23
1957 c MLN077 Melanoma, Cutaneous Malignant 9 23
1958 c MLN076 Melanoma, Cutaneous Malignant 5 23
1959 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
1960 TBS009 Teebi-Shaltout Syndrome 22
1961 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 22
1962 PLM177 Pilomatrix Carcinoma 22
1963 FLY003 Flynn-Aird Syndrome 22
1964 c FML223 Familial Keratoacanthoma 22
1965 KRT066 Keratosis, Focal Palmoplantar and Gingival 22
1966 BLL009 Bullous Dystrophy Hereditary Macular Type 22
1967 c PLN028 Peeling Skin Syndrome 6 22
1968 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1969 VSC009 Vascular Skin Disease 22
1970 c SYS040 Systemic Lupus Erythematosus 10 21
1971 c SYS046 Systemic Lupus Erythematosus 3 21
1972 c CHL114 Chilblain Lupus 2 21
1973 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1974 c MLN074 Melanoma, Cutaneous Malignant 4 20
1975 GST108 Gist-Plus Syndrome 20
1976 ADM002 Adamantinoid Basal Cell Epithelioma 20
1977 ECC006 Eccrine Mixed Tumor of Skin 20
1978 c ATP003 Atp6v0a2-Related Cutis Laxa 20
1979 CTN002 Cutaneous Mucoepidermoid Carcinoma 20
1980 GRW032 Growth Factors, Combined Defect of 20
1981 VLV046 Vulvovaginal Gingival Syndrome 19
1982 c FBL003 Fbln5-Related Cutis Laxa 19
1983 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 19
1984 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 19
1985 OCL057 Oculotrichodysplasia 19
1986 c SYS053 Systemic Lupus Erythematosus 5 19
1987 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
1988 ANG063 Angiolipomatosis, Familial 18
1989 PRM314 Primary Cutaneous Lymphoma 18
1990 CNC020 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 18
1991 ANL013 Anal Margin Basal Cell Carcinoma 18
1992 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 18
1993 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 18
1994 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 18
1995 CRN224 Craniofaciofrontodigital Syndrome 18
1996 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
1997 c SPN107 Spinocerebellar Ataxia 9 18
1998 MLN018 Moloney Syndrome 18
1999 c MNT162 Mental Retardation, Autosomal Recessive 24 17
2000 VND003 Van Den Bosch Syndrome 17
2001 ACR078 Acral Self-Healing Collodion Baby 17
2002 c MNT167 Mental Retardation, Autosomal Recessive 16 17
2003 DRM019 Dermatoleukodystrophy 17
2004 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
2005 c MNT165 Mental Retardation, Autosomal Recessive 28 17
2006 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 17
2007 c MNT182 Mental Retardation, Autosomal Recessive 19 17
2008 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 17
2009 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
2010 c MNT170 Mental Retardation, Autosomal Recessive 23 16
2011 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
2012 CHM001 Cahmr Syndrome 16
2013 JSS002 Jessner Lymphocytic Infiltration of the Skin 16
2014 ANL007 Anal Margin Squamous Cell Carcinoma 15
2015 c MNT160 Mental Retardation, Autosomal Recessive 31 15
2016 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 15
2017 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 15
2018 c FML205 Familial Anetoderma 14
2019 SBC013 Sebaceous Basal Cell Carcinoma 14
2020 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
2021 c ANP011 Anaplastic Small Cell Lymphoma 14
2022 SCR014 Scrotum Basal Cell Carcinoma 13
2023 c ORF005 Orofaciodigital Syndrome 12 13
2024 c HMN023 Human T-Cell Leukemia Virus Type 3 13
2025 CHN047 Chondroectodermal Dysplasia with Night Blindness 13
2026 VGT002 Vegetative Pyoderma Gangrenosum 12
2027 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 12
2028 ALP049 Alopecia Antibody Deficiency 11
2029 ODN004 Odonto Onycho Dysplasia with Alopecia 11
2030 SKN017 Skin Glomangioma 11
2031 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 10
2032 c ALP081 Alopecia Intellectual Disability Syndrome 2 10
2033 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 10
2034 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
2035 MLG010 Malignant Eyelid Melanoma 9
2036 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 8
2037 c BSL047 Basal Epidermolysis Bullosa Simplex 8
2038 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 8
2039 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8
2040 c ATS394 Autosomal Dominant Mental Retardation 55 7
2041 PRN012 Perianal Skin Paget's Disease 7
2042 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
2043 c MLG050 Malignant Granular Cell Skin Tumor 7
2044 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 6
2045 PLN004 Plantar Verrucous Skin Carcinoma 5
2046 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5
2047 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 5
2048 IMM214 Immune Deficiency with Skin Involvement 4
2049 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 4
2050 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 4
2051 RRS013 Rare Skin Tumor or Hamartoma 4
2052 P ART022 Arthritis 70
2053 MSL001 Measles 61
2054 PNT003 Pinta Disease 31
2055 c FML346 Familial Adenomatous Polyposis 1 70
2056 PTZ001 Peutz-Jeghers Syndrome 69
2057 ADL002 Adult Syndrome 69
2058 c PSD108 Pseudohypoparathyroidism, Type Ia 66
2059 c MCP001 Mucopolysaccharidosis Iii 65
2060 P PRT008 Proteus Syndrome 64
2061 RFS006 Refsum Disease, Classic 63
2062 P CRN038 Carney Complex Variant 63
2063 c LPD015 Lipodystrophy, Familial Partial, Type 2 62
2064 DNH001 Donohue Syndrome 62
2065 PSR001 Psoriatic Arthritis 62
2066 c ORF037 Orofaciodigital Syndrome I 61
2067 RHM001 Rheumatic Fever 61
2068 c PRT132 Protoporphyria, Erythropoietic, 1 61
2069 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 60
2070 c PCH015 Pachyonychia Congenita 1 60
2071 CRT002 Cartilage-Hair Hypoplasia 60
2072 DPH001 Diphtheria 60
2073 P ECT006 Ectodermal Dysplasia 59
2074 P TYR004 Tyrosinemia 58
2075 P PTY003 Pityriasis Rubra Pilaris 58
2076 PMP006 Pemphigus Vulgaris, Familial 58
2077 LGS001 Legius Syndrome 57
2078 ERY003 Erythema Multiforme 57
2079 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
2080 P SHR029 Short Syndrome 57
2081 FRB001 Farber Lipogranulomatosis 57
2082 c ALB009 Albinism, Oculocutaneous, Type Ia 57
2083 P WLL002 Weill-Marchesani Syndrome 55
2084 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
2085 P ICH004 Ichthyosis 54
2086 RCS002 Recessive Dystrophic Epidermolysis Bullosa 53
2087 P LYM025 Lymphedema 53
2088 STR039 Sturge-Weber Syndrome 52
2089 c TRC092 Trichorhinophalangeal Syndrome, Type I 52
2090 NRF008 Neurofibromatosis-Noonan Syndrome 52
2091 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51
2092 CHL122 Cholesteatoma of Middle Ear 51
2093 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
2094 c GRS014 Griscelli Syndrome, Type 2 50
2095 c FML347 Familial Adenomatous Polyposis 2 50
2096 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 50
2097 FLR001 Filarial Elephantiasis 50
2098 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50
2099 P CTN015 Cutaneous T Cell Lymphoma 49
2100 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
2101 NXS001 Naxos Disease 49
2102 P AMY084 Amyloidosis, Finnish Type 49
2103 BRR012 Berardinelli-Seip Congenital Lipodystrophy 48
2104 DBW001 Dubowitz Syndrome 48
2105 DYS022 Dyschromatosis Symmetrica Hereditaria 48
2106 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 47
2107 c ALB019 Albinism, Oculocutaneous, Type Iv 47
2108 P PRP056 Porphyria, Acute Hepatic 46
2109 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 46
2110 MLT018 Multiple Carboxylase Deficiency 45
2111 c WRD032 Waardenburg Syndrome, Type 2a 45
2112 MLN073 Melanosis, Neurocutaneous 45
2113 WTK002 Witkop Syndrome 45
2114 P MLT048 Multiple Familial Trichoepithelioma 44
2115 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
2116 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 44
2117 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 44
2118 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 44
2119 c GRS013 Griscelli Syndrome, Type 1 44
2120 c FML294 Familial Short Qt Syndrome 43
2121 P PRM001 Primary Cutaneous Amyloidosis 43
2122 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 43
2123 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
2124 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 42
2125 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 42
2126 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 42
2127 MLK003 Melkersson-Rosenthal Syndrome 42
2128 c CRN243 Carney Complex, Type 1 42
2129 ERY017 Erythema Elevatum Diutinum 41
2130 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
2131 c SPN290 Spinocerebellar Ataxia 15 41
2132 MND025 Mandibulofacial Dysostosis with Alopecia 41
2133 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 41
2134 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
2135 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 40
2136 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 40
2137 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40
2138 c NNN012 Noonan Syndrome 5 39
2139 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
2140 c SPN099 Spinocerebellar Ataxia 26 39
2141 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 38
2142 c PRM327 Primary Lymphedema 38
2143 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 38
2144 c SPN097 Spinocerebellar Ataxia 23 37
2145 APC004 Apocrine Adenocarcinoma 37
2146 c HRD007 Hereditary Lymphedema 37
2147 c MLG049 Malignant Syringoma 37
2148 LVD003 Livedoid Vasculitis 37
2149 c LPD040 Lipodystrophy, Familial Partial, Type 1 37
2150 TMP011 Temple-Baraitser Syndrome 37
2151 OLV004 Oliver-Mcfarlane Syndrome 37
2152 WNC001 Winchester Syndrome 36
2153 HMM002 Haim-Munk Syndrome 36
2154 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 36
2155 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 36
2156 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 36
2157 c ALB015 Albinism, Oculocutaneous, Type V 36
2158 ECC002 Eccrine Acrospiroma 36
2159 c SYS061 Systemic Lupus Erythematosus 16 35
2160 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
2161 c PRM299 Primary Cutaneous B-Cell Lymphoma 35
2162 BSL044 Basal Cell Carcinoma, Infundibulocystic 34
2163 MCR183 Microcephaly-Capillary Malformation Syndrome 34
2164 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
2165 c SPN299 Spinocerebellar Ataxia 20 34
2166 ANG062 Angioosteohypertrophic Syndrome 33
2167 c WLL040 Weill-Marchesani Syndrome 4 33
2168 BCK005 Becker Nevus Syndrome 33
2169 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
2170 c NNN024 Noonan Syndrome 9 32
2171 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 32
2172 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 32
2173 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 31
2174 ADN015 Adenoid Basal Cell Carcinoma 31
2175 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 31
2176 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 31
2177 HRZ001 Huriez Syndrome 31
2178 c SHR032 Short Qt Syndrome 2 30
2179 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 30
2180 SKN024 Skin Fragility-Woolly Hair Syndrome 30
2181 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 30
2182 c RTH007 Rothmund-Thomson Syndrome, Type 1 30
2183 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 30
2184 c MLN067 Melanoma, Cutaneous Malignant 2 29
2185 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 29
2186 c CLL013 Cell Type Cancer 29
2187 c SHR031 Short Qt Syndrome 1 29
2188 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 29
2189 c SHR033 Short Qt Syndrome 3 28
2190 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 28
2191 c CNG133 Congenital Varicella Syndrome 28
2192 ECC008 Eccrine Sweat Gland Neoplasm 28
2193 c MNT270 Mental Retardation, Autosomal Recessive 53 28
2194 P ATM076 Autoimmune Retinopathy 28
2195 c MNT262 Mental Retardation, Autosomal Dominant 42 28
2196 c FRN032 Frontonasal Dysplasia 3 27
2197 CBB002 Cobb Syndrome 27
2198 c CRN110 Cranioectodermal Dysplasia 3 27
2199 c MLN075 Melanoma, Cutaneous Malignant 3 27
2200 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 27
2201 CRC001 Cercarial Dermatitis 26
2202 c SPN418 Spinocerebellar Ataxia 44 26
2203 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 26
2204 c SPN420 Spinocerebellar Ataxia 46 26
2205 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 26
2206 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 26
2207 c ADM012 Adams-Oliver Syndrome 6 26
2208 ECC001 Eccrine Papillary Adenocarcinoma 25
2209 c ADM009 Adams-Oliver Syndrome 4 25
2210 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 25
2211 HYP481 Hyperbiliverdinemia 25
2212 ECC007 Eccrine Sweat Gland Cancer 25
2213 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
2214 PLM104 Palmoplantar Keratoderma, Nagashima Type 24
2215 c SKN012 Skin Carcinoma in Situ 24
2216 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 24
2217 c LPR011 Leopard Syndrome 2 24
2218 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 24
2219 c LTB003 Ltbp4-Related Cutis Laxa 24
2220 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
2221 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 23
2222 EYL006 Eyelid Benign Neoplasm 22
2223 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 22
2224 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 22
2225 c ORF045 Orofaciodigital Syndrome Xv 22
2226 c MLN042 Melanoma, Cutaneous Malignant 6 22
2227 c LYM148 Lymphatic Malformation 4 22
2228 c FML249 Familial Amyloidosis, Finnish Type 21
2229 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 21
2230 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 21
2231 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
2232 DRM023 Dermoodontodysplasia 21
2233 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
2234 ZNC006 Zinc, Elevated Plasma 20
2235 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
2236 c PSR022 Psoriasis 15, Pustular 19
2237 STT008 Steatocystoma Multiplex with Natal Teeth 18
2238 c MNT172 Mental Retardation, Autosomal Recessive 25 18
2239 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18
2240 c SYS048 Systemic Lupus Erythematosus 8 18
2241 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
2242 c PRT135 Protoporphyria, Erythropoietic, 2 18
2243 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 17
2244 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
2245 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 17
2246 c SYS055 Systemic Lupus Erythematosus 12 17
2247 c BSL027 Basal Cell Carcinoma 4 16
2248 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
2249 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 16
2250 c NDP001 Ndp-Related Retinopathies 14
2251 9Q3002 9q33.3q34.11 Microdeletion Syndrome 14
2252 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
2253 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 13
2254 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 12
2255 P DFN296 Deafness-Onychodystrophy Syndrome 12
2256 EXT018 External Ear Basal Cell Carcinoma 10
2257 P VRC007 Varicella, Severe Recurrent 9
2258 SKN008 Skin Glomus Tumor 7
2259 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 6
2260 c LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 5
2261 EPH003 Ephb4-Related Lymphatic-Related Nonimmune Hydrops Fetalis with Atrial Septal Defect 5
2262 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 5
2263 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 4
2264 CHC001 Chickenpox 60
2265 BRL010 Buruli Ulcer 45
2266 P BRS047 Breast Cancer 96
2267 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81
2268 P NRF023 Neurofibromatosis, Type Ii 76
2269 c HMC039 Hemochromatosis, Type 1 74
2270 P FML011 Familial Adenomatous Polyposis 72
2271 P MLN066 Melanoma, Cutaneous Malignant 1 70
2272 P TTR001 Tetralogy of Fallot 69
2273 c BSL007 Basal Cell Carcinoma 68
2274 CHL065 Cholangiocarcinoma 67
2275 LKC009 Leukocyte Adhesion Deficiency, Type I 67
2276 c TYR012 Tyrosinemia, Type I 67
2277 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66
2278 c ATS013 Autosomal Recessive Congenital Ichthyosis 66
2279 MYC006 Mycosis Fungoides 66
2280 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65
2281 MVL001 Mevalonic Aciduria 64
2282 PPL049 Papillon-Lefevre Syndrome 63
2283 P CTS001 Cutis Laxa 62
2284 LCR014 Lacrimoauriculodentodigital Syndrome 61
2285 BRK001 Brooke-Spiegler Syndrome 60
2286 PBL005 Piebald Trait 59
2287 P FML052 Familial Cold Autoinflammatory Syndrome 59
2288 c BNG091 Benign Chronic Pemphigus 59
2289 P ADM011 Adams-Oliver Syndrome 59
2290 ALK013 Alkaptonuria 58
2291 BRG013 Buerger Disease 57
2292 CPR004 Coproporphyria, Hereditary 57
2293 VRG001 Variegate Porphyria 56
2294 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
2295 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56
2296 P FML012 Familial Partial Lipodystrophy 55
2297 c CCK008 Cockayne Syndrome a 55
2298 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
2299 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
2300 P GRS003 Griscelli Syndrome 55
2301 c CCK007 Cockayne Syndrome B 54
2302 c HRM017 Hermansky-Pudlak Syndrome 2 53
2303 VCS001 Vici Syndrome 53
2304 P NLX004 Neu-Laxova Syndrome 1 53
2305 DYS002 Dysplastic Nevus Syndrome 53
2306 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 53
2307 c PSD066 Pseudohypoparathyroidism, Type Ib 52
2308 MRS002 Marshall Syndrome 52
2309 c SPN294 Spinocerebellar Ataxia 1 52
2310 P CRB101 Cerebrooculofacioskeletal Syndrome 1 52
2311 HYP088 Hyper-Igd Syndrome 52
2312 c HMC021 Hemochromatosis, Type 2a 52
2313 c CTS045 Cutis Laxa, Autosomal Dominant 1 51
2314 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 51
2315 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 51
2316 CLC001 Calciphylaxis 51
2317 FML063 Familial Glucocorticoid Deficiency 51
2318 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
2319 c BRS049 Breast Carcinoma in Situ 50
2320 c SPN296 Spinocerebellar Ataxia 17 50
2321 c HMC009 Hemochromatosis Type 2 50
2322 c HRM005 Hermansky-Pudlak Syndrome 1 50
2323 c HMC035 Hemochromatosis, Type 4 50
2324 c ALB020 Albinism, Oculocutaneous, Type Iii 49
2325 c HMC010 Hemochromatosis, Type 3 49
2326 c INF023 Inflammatory Breast Carcinoma 49
2327 c PSR021 Psoriasis 14, Pustular 49
2328 c MCP047 Mucopolysaccharidosis, Type Iva 49
2329 LPD016 Lipoid Proteinosis of Urbach and Wiethe 49
2330 SND002 Sneddon Syndrome 48
2331 ADR038 Adermatoglyphia 48
2332 c HMN021 Human T-Cell Leukemia Virus Type 1 48
2333 LMT001 Limited Scleroderma 47
2334 P ACQ022 Acquired Generalized Lipodystrophy 47
2335 c AXN009 Axenfeld-Rieger Syndrome, Type 1 47
2336 c LYM144 Lymphatic Malformation 1 47
2337 P ERY008 Erythromelalgia 47
2338 c FML253 Familial Cold Autoinflammatory Syndrome 3 45
2339 c SPN293 Spinocerebellar Ataxia 12 45
2340 HNN001 Hennekam Syndrome 45
2341 c SPR009 Sporadic Breast Cancer 45
2342 LYM029 Lymphedema-Distichiasis Syndrome 44
2343 ECC004 Eccrine Porocarcinoma 44
2344 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 44
2345 c PCH010 Pachyonychia Congenita 3 43
2346 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 43
2347 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 43
2348 TRN021 Transaldolase Deficiency 42
2349 BJR001 Bjornstad Syndrome 41
2350 PRK003 Parkes Weber Syndrome 41
2351 c LYM150 Lymphatic Malformation 7 41
2352 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 41
2353 c SPN284 Spinocerebellar Ataxia 38 41
2354 P RRH023 Rare Hereditary Hemochromatosis 41
2355 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 41
2356 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
2357 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 41
2358 c MCP045 Mucopolysaccharidosis, Type Iiic 40
2359 BLR027 Blue Rubber Bleb Nevus 40
2360 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 40
2361 P TRC031 Trichorhinophalangeal Syndrome 40
2362 MJD001 Majeed Syndrome 39
2363 c HMC034 Hemochromatosis, Type 5 39
2364 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 39
2365 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 39
2366 GRD005 Geroderma Osteodysplasticum 38
2367 c PSD117 Pseudohypoparathyroidism, Type Ic 38
2368 NST002 Nestor-Guillermo Progeria Syndrome 37
2369 GPS001 Gapo Syndrome 36
2370 c HMC019 Hemochromatosis, Type 2b 36
2371 c MCP046 Mucopolysaccharidosis, Type Iiid 36
2372 c TRC095 Trichoepithelioma, Multiple Familial, 1 36
2373 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 36
2374 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 35
2375 c WLL037 Weill-Marchesani Syndrome 2 35
2376 WRN004 Wrinkly Skin Syndrome 35
2377 c MNT179 Mental Retardation, Autosomal Dominant 21 34
2378 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 34
2379 c CRB100 Cerebrooculofacioskeletal Syndrome 4 33
2380 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
2381 c HRD206 Hereditary Lymphedema Ii 32
2382 c CNG439 Congenital Lymphedema 32
2383 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 32
2384 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 32
2385 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
2386 JHN004 Johnson Neuroectodermal Syndrome 30
2387 WYB002 Wyburn-Mason Syndrome 30
2388 P ANG013 Angioma Serpiginosum 30
2389 c CRB099 Cerebrooculofacioskeletal Syndrome 3 29
2390 c FML339 Familial Adenomatous Polyposis 4 29
2391 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 29
2392 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29
2393 c HRD202 Hereditary Lymphedema I 28
2394 c FML299 Familial Adenomatous Polyposis 3 28
2395 c PRT063 Proteus-Like Syndrome 28
2396 c LYM149 Lymphatic Malformation 6 27
2397 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 27
2398 c CRN111 Cranioectodermal Dysplasia 4 27
2399 LMB076 Lumbar Syndrome 26
2400 c JVN024 Juvenile Hereditary Hemochromatosis 26
2401 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 26
2402 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
2403 c PCH011 Pachyonychia Congenita 4 25
2404 c HRD204 Hereditary Lymphedema Ia 25
2405 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 25
2406 c ADM008 Adams-Oliver Syndrome 3 25
2407 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 25
2408 c ORF046 Orofaciodigital Syndrome Xvi 25
2409 SCR025 Scarf Syndrome 25
2410 c MNT326 Mental Retardation, Autosomal Dominant 50 24
2411 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 24
2412 ARD001 Aredyld 24
2413 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
2414 c MNT177 Mental Retardation, Autosomal Recessive 27 23
2415 c MNT339 Mental Retardation, Autosomal Recessive 66 23
2416 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 23
2417 ECT073 Ectodermal Dysplasia/short Stature Syndrome 23
2418 c TRC099 Trichothiodystrophy 2, Photosensitive 22
2419 GRM003 German Syndrome 22
2420 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 22
2421 CRN070 Corneodermatoosseous Syndrome 22
2422 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 21
2423 c MNT277 Mental Retardation, Autosomal Recessive 54 19
2424 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
2425 c MNT161 Mental Retardation, Autosomal Recessive 29 17
2426 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 16
2427 c LYM146 Lymphatic Malformation 2 16
2428 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
2429 c TFR001 Tfr2-Related Hereditary Hemochromatosis 15
2430 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
2431 c SCN066 Secondary Erythromelalgia 13
2432 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 13
2433 c SCN010 Scn9a-Related Inherited Erythromelalgia 10
2434 c HLL012 Hallermann-Streiff-Like Syndrome 9
2435 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
2436 c HRD205 Hereditary Lymphedema Ib 7
2437 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
2438 PZ1001 Piezo1-Related Lymphatic-Related Nonimmune Hydrops Fetalis with Systemic Involvement 5
2439 P RBL001 Rubella 58
2440 CNN003 Conn's Syndrome 79
2441 FBR011 Fibrodysplasia Ossificans Progressiva 66
2442 P TRC102 Trichothiodystrophy 1, Photosensitive 65
2443 P EPD009 Epidermolysis Bullosa Dystrophica 64
2444 P MCP040 Mucopolysaccharidosis-Plus Syndrome 64
2445 BLS001 Blau Syndrome 64
2446 CHR063 Chronic Mucocutaneous Candidiasis 63
2447 OSS012 Osseous Heteroplasia, Progressive 61
2448 P LPS004 Lupus Erythematosus 61
2449 P OCL002 Oculocutaneous Albinism 60
2450 MRT001 Muir-Torre Syndrome 60
2451 CLS005 Clouston Syndrome 59
2452 P AXN002 Axenfeld-Rieger Syndrome 58
2453 GLB001 Gilbert Syndrome 57
2454 CHR003 Cherubism 57
2455 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
2456 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 56
2457 c MCP043 Mucopolysaccharidosis, Type Iiia 54
2458 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 54
2459 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54
2460 c SPN291 Spinocerebellar Ataxia 7 53
2461 c ORF034 Orofaciodigital Syndrome Vi 52
2462 BSC001 Buschke-Ollendorff Syndrome 52
2463 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 52
2464 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
2465 P BRT029 Brittle Cornea Syndrome 2 50
2466 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
2467 c SPN311 Spinocerebellar Ataxia 13 49
2468 c MCP044 Mucopolysaccharidosis, Type Iiib 48
2469 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 47
2470 c HRM008 Hermansky-Pudlak Syndrome 5 46
2471 c HRM007 Hermansky-Pudlak Syndrome 4 46
2472 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
2473 LTH001 Lethal Midline Granuloma 43
2474 c MYF007 Myofibromatosis, Infantile, 1 43
2475 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 43
2476 SCL046 Scalp-Ear-Nipple Syndrome 43
2477 c SPN305 Spinocerebellar Ataxia 11 43
2478 c SPN314 Spinocerebellar Ataxia 10 42
2479 BRB006 Barber-Say Syndrome 41
2480 c CPL013 Capillary Malformations, Congenital 40
2481 c SPN096 Spinocerebellar Ataxia 21 40
2482 c MNT240 Mental Retardation, Autosomal Dominant 33 40
2483 c SPN283 Spinocerebellar Ataxia 37 39
2484 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 38
2485 c MNT212 Mental Retardation, Autosomal Dominant 26 37
2486 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
2487 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 34
2488 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
2489 c MNT323 Mental Retardation, Autosomal Dominant 48 34
2490 c MNT273 Mental Retardation, Autosomal Dominant 44 34
2491 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 33
2492 c MNT157 Mental Retardation, Autosomal Dominant 18 33
2493 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 32
2494 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 32
2495 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 32
2496 c AXN012 Axenfeld-Rieger Syndrome, Type 2 31
2497 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 31
2498 c SPN247 Spinocerebellar Ataxia Type 19/22 30
2499 c SPN098 Spinocerebellar Ataxia 25 30
2500 c MNT219 Mental Retardation, Autosomal Dominant 30 30
2501 c WRD029 Waardenburg Syndrome, Type 2b 29
2502 c ORF043 Orofaciodigital Syndrome Ix 29
2503 PHC006 Phacomatosis Pigmentovascularis 29
2504 c CWD004 Cowden Syndrome 5 28
2505 c SPN102 Spinocerebellar Ataxia 30 27
2506 c MNT280 Mental Retardation, Autosomal Dominant 43 27
2507 c MNT166 Mental Retardation, Autosomal Recessive 39 26
2508 c ACQ027 Acquired Cutis Laxa 26
2509 c MNT328 Mental Retardation, Autosomal Dominant 52 26
2510 c MNT184 Mental Retardation, Autosomal Dominant 11 25
2511 c MNT244 Mental Retardation, Autosomal Recessive 49 25
2512 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 24
2513 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 24
2514 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
2515 c MNT286 Mental Retardation, Autosomal Dominant 45 24
2516 c MNT285 Mental Retardation, Autosomal Recessive 58 23
2517 c MNT278 Mental Retardation, Autosomal Dominant 46 22
2518 c NNN034 Noonan Syndrome 12 22
2519 c CCK004 Cockayne Syndrome Type Iii 22
2520 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 20
2521 c MNT180 Mental Retardation, Autosomal Recessive 33 17
2522 c MNT163 Mental Retardation, Autosomal Recessive 30 17
2523 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
2524 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
2525 c OCL037 Oculodentodigital Dysplasia Dominant 5
2526 ANG005 Anogenital Venereal Wart 56
2527 c EPD085 Epidermodysplasia Verruciformis 3 25
2528 c EPD086 Epidermodysplasia Verruciformis 4 23
2529 c EPD084 Epidermodysplasia Verruciformis 2 20
2530 c EPD087 Epidermodysplasia Verruciformis 5 18
2531 FBR012 Fabry Disease 71
2532 c HPT073 Hepatitis C Virus 70
2533 MCC012 Mccune-Albright Syndrome 70
2534 MST024 Mastocytosis, Cutaneous 67
2535 P HPT021 Hepatitis 67
2536 MRK001 Merkel Cell Carcinoma 66
2537 DRM014 Dermatofibrosarcoma Protuberans 65
2538 CRB011 Cerebrotendinous Xanthomatosis 63
2539 c MCP049 Mucopolysaccharidosis, Type Vii 63
2540 c HPT001 Hepatitis C 63
2541 c HPT003 Hepatitis a 63
2542 c SCL052 Scleroderma, Familial Progressive 62
2543 c ATM011 Autoimmune Hepatitis 62
2544 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61
2545 c HPT016 Hepatitis B 59
2546 c SPN301 Spinocerebellar Ataxia 2 59
2547 EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
2548 c CNG412 Congenital Disorder of Glycosylation, Type Ii 54
2549 P BLP047 Blepharocheilodontic Syndrome 1 53
2550 c HPT007 Hepatitis E 52
2551 c VRL010 Viral Hepatitis 51
2552 c HPT015 Hepatitis D 49
2553 c TYR013 Tyrosinemia, Type Ii 46
2554 c NNN011 Noonan Syndrome 4 44
2555 c SPN308 Spinocerebellar Ataxia 28 43
2556 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
2557 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 42
2558 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
2559 c ATM112 Autoimmune Hepatitis Type 1 34
2560 ACR025 Acrocephalopolydactylous Dysplasia 33
2561 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
2562 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
2563 c SPN286 Spinocerebellar Ataxia 40 30
2564 c ATM111 Autoimmune Hepatitis Type 2 30
2565 MCP039 Mucoepithelial Dysplasia, Hereditary 30
2566 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 28
2567 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
2568 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 26
2569 c MNT176 Mental Retardation, Autosomal Recessive 38 26
2570 c MNT279 Mental Retardation, Autosomal Dominant 47 26
2571 c MNT236 Mental Retardation, Autosomal Dominant 39 26
2572 c SPN421 Spinocerebellar Ataxia 47 25
2573 c MNT329 Mental Retardation, Autosomal Dominant 53 25
2574 c HRM020 Hermansky-Pudlak Syndrome 10 25
2575 c MNT338 Mental Retardation, Autosomal Recessive 65 24
2576 c ORF052 Orofaciodigital Syndrome Xviii 24
2577 c NNN029 Noonan Syndrome 11 24
2578 c SPN323 Spinocerebellar Ataxia 41 23
2579 c MNT151 Mental Retardation, Autosomal Recessive 18 22
2580 c MNT275 Mental Retardation, Autosomal Recessive 60 21
2581 c MNT220 Mental Retardation, Autosomal Recessive 45 20
2582 c MNT264 Mental Retardation, Autosomal Recessive 52 19
2583 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 19
2584 P TBR001 Tuberous Sclerosis 70
2585 WRN001 Werner Syndrome 69
2586 c MCP052 Mucopolysaccharidosis, Type Vi 67
2587 c MCL062 Mucolipidosis Ii Alpha/beta 66
2588 HTC003 Hutchinson-Gilford Progeria Syndrome 65
2589 c MCL013 Mucolipidosis Iv 64
2590 ELL001 Ellis-Van Creveld Syndrome 62
2591 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 61
2592 P DRM010 Dermatomyositis 61
2593 BTN003 Biotinidase Deficiency 60
2594 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 57
2595 c MCL046 Mucolipidosis Iii Alpha/beta 55
2596 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54
2597 c ALB010 Albinism, Oculocutaneous, Type Ib 54
2598 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 54
2599 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 53
2600 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 53
2601 P MNT319 Mental Retardation, Autosomal Dominant 20 51
2602 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
2603 c ORF040 Orofaciodigital Syndrome Viii 50
2604 P INT099 Intrahepatic Cholestasis of Pregnancy 49
2605 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 47
2606 P MCL001 Mucolipidosis 47
2607 c CNG190 Congenital Disorder of Glycosylation, Type Iib 46
2608 c ORF033 Orofaciodigital Syndrome V 44
2609 c MCL016 Mucolipidosis Iii Gamma 43
2610 c MNT185 Mental Retardation, Autosomal Dominant 7 43
2611 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 42
2612 c MNT245 Mental Retardation, Autosomal Dominant 36 42
2613 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 41
2614 c MNT242 Mental Retardation, Autosomal Dominant 40 41
2615 c SPN304 Spinocerebellar Ataxia 8 41
2616 c MNT214 Mental Retardation, Autosomal Dominant 24 39
2617 LYM094 Lymphedema, Primary, with Myelodysplasia 38
2618 c MNT143 Mental Retardation, Autosomal Dominant 13 36
2619 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
2620 c MNT158 Mental Retardation, Autosomal Dominant 22 34
2621 P EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 34
2622 c NNN025 Noonan Syndrome 10 33
2623 c SPN094 Spinocerebellar Ataxia 18 33
2624 c MNT226 Mental Retardation, Autosomal Dominant 31 31
2625 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 31
2626 c MNT222 Mental Retardation, Autosomal Dominant 29 30
2627 c MNT211 Mental Retardation, Autosomal Dominant 23 30
2628 c MNT241 Mental Retardation, Autosomal Dominant 32 30
2629 c MNT239 Mental Retardation, Autosomal Dominant 35 30
2630 c CNG388 Congenital Disorder of Glycosylation, Type Iw 29
2631 c MNT145 Mental Retardation, Autosomal Recessive 5 29
2632 c MNT210 Mental Retardation, Autosomal Recessive 42 29
2633 c MNT272 Mental Retardation, Autosomal Dominant 41 28
2634 c MNT246 Mental Retardation, Autosomal Dominant 38 28
2635 c MNT213 Mental Retardation, Autosomal Recessive 40 27
2636 c MNT334 Mental Retardation, Autosomal Dominant 57 27
2637 c MNT183 Mental Retardation, Autosomal Recessive 36 27
2638 c MNT282 Mental Retardation, Autosomal Recessive 55 27
2639 c MNT324 Mental Retardation, Autosomal Dominant 49 26
2640 c MNT216 Mental Retardation, Autosomal Recessive 41 26
2641 c MNT321 Mental Retardation, Autosomal Recessive 37 26
2642 c MNT150 Mental Retardation, Autosomal Recessive 15 26
2643 c MNT332 Mental Retardation, Autosomal Dominant 56 26
2644 c MNT238 Mental Retardation, Autosomal Dominant 34 25
2645 c MNT337 Mental Retardation, Autosomal Dominant 58 25
2646 c MNT330 Mental Retardation, Autosomal Dominant 54 24
2647 c MNT325 Mental Retardation, Autosomal Recessive 61 24
2648 c MNT227 Mental Retardation, Autosomal Recessive 46 24
2649 c MNT155 Mental Retardation, Autosomal Recessive 2 24
2650 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
2651 c ORF051 Orofaciodigital Syndrome Xvii 24
2652 c MNT287 Mental Retardation, Autosomal Recessive 57 24
2653 c MNT327 Mental Retardation, Autosomal Dominant 51 24
2654 c MNT234 Mental Retardation, Autosomal Recessive 48 23
2655 c EFM001 Efemp2-Related Cutis Laxa 23
2656 c ORF039 Orofaciodigital Syndrome Vii 22
2657 c MNT221 Mental Retardation, Autosomal Recessive 44 22
2658 c MNT186 Mental Retardation, Autosomal Dominant 10 22
2659 c MNT154 Mental Retardation, Autosomal Recessive 14 21
2660 c MNT336 Mental Retardation, Autosomal Recessive 64 21
2661 c MNT215 Mental Retardation, Autosomal Recessive 43 21
2662 c MNT225 Mental Retardation, Autosomal Recessive 47 21
2663 c MNT263 Mental Retardation, Autosomal Recessive 51 20
2664 c MNT243 Mental Retardation, Autosomal Recessive 50 19
2665 c MNT335 Mental Retardation, Autosomal Recessive 63 19
2666 c MNT281 Mental Retardation, Autosomal Recessive 59 19
2667 c MNT284 Mental Retardation, Autosomal Recessive 56 18
2668 c ORF006 Orofaciodigital Syndrome 13 13
2669 P EPD083 Epidermodysplasia Verruciformis 1 57
2670 c LPR022 Leprosy 2 37
2671 c LPR017 Leprosy 5 20
2672 c LPR016 Leprosy 4 17
2673 c LPR020 Leprosy 6 17
2674 c CWD006 Cowden Syndrome 1 77
2675 P CWD010 Cowden Syndrome 66
2676 P TRN020 Turner Syndrome 65
2677 MCK007 Muckle-Wells Syndrome 63
2678 BRT002 Birt-Hogg-Dube Syndrome 62
2679 c SPN101 Spinocerebellar Ataxia 29 48
2680 c TYR011 Tyrosinemia, Type Iii 42
2681 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 41
2682 c NNN021 Noonan Syndrome 8 40
2683 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
2684 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
2685 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
2686 c ORF036 Orofaciodigital Syndrome Xiv 30
2687 c CWD008 Cowden Syndrome 6 29
2688 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
2689 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
2690 c CNG124 Congenital Rubella 45
2691 c LPR023 Leprosy 1 23
2692 c MCP004 Mucopolysaccharidosis Iv 58
2693 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 44
2694 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
2695 P PHS005 Peho Syndrome 38
2696 c CNG198 Congenital Disorder of Glycosylation, Type Il 33
2697 c ORF042 Orofaciodigital Syndrome Xi 25
2698 c CNG389 Congenital Disorder of Glycosylation, Type Iim 46
2699 c CNG203 Congenital Disorder of Glycosylation, Type Iii 45
2700 c CNG194 Congenital Disorder of Glycosylation, Type Ig 39
2701 P LPR021 Leprosy 3 67
2702 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
2703 c CNG414 Congenital Disorder of Glycosylation, Type Iil 43
2704 c CNG498 Congenital Disorder of Glycosylation, Type Iin 43
2705 c CNG379 Congenital Disorder of Glycosylation, Type It 38
2706 c CNG196 Congenital Disorder of Glycosylation, Type Ic 35
2707 c CNG188 Congenital Disorder of Glycosylation, Type if 31
2708 c CNG201 Congenital Disorder of Glycosylation, Type Iij 44
2709 c CNG411 Congenital Disorder of Glycosylation, Type in 68
2710 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
2711 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
2712 c CNG200 Congenital Disorder of Glycosylation, Type Iq 35
2713 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35



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