Skin Diseases Category (2737 diseases)


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

# Family MCID Name MIFTS
1 c XRD031 Xeroderma Pigmentosum, Complementation Group F 55
2 c XRD023 Xeroderma Pigmentosum, Complementation Group G 53
3 P XRD029 Xeroderma Pigmentosum, Complementation Group a 55
4 c XRD022 Xeroderma Pigmentosum, Complementation Group D 58
5 c XRD030 Xeroderma Pigmentosum, Complementation Group C 55
6 c MLN043 Melanoma, Cutaneous Malignant 8 34
7 P MLN008 Melanoma 69
8 P MLN069 Melanoma, Uveal 59
9 c KRT018 Keratosis Palmoplantaris Striata Iii 16
10 OCL022 Ocular Melanoma 50
11 c XRD032 Xeroderma Pigmentosum, Complementation Group B 50
12 c XRD021 Xeroderma Pigmentosum, Complementation Group E 45
13 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 32
14 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 27
15 P KRT017 Keratosis Palmoplantaris Striata Ii 21
16 c MLN067 Melanoma, Cutaneous Malignant 2 29
17 c MLN075 Melanoma, Cutaneous Malignant 3 27
18 c MLN076 Melanoma, Cutaneous Malignant 5 24
19 c MLN077 Melanoma, Cutaneous Malignant 9 23
20 c MLN042 Melanoma, Cutaneous Malignant 6 22
21 PRM139 Primary Melanoma of the Central Nervous System 16
22 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
23 AML001 Amelanotic Melanoma 39
24 DGS008 Digestive System Melanoma 13
25 P ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 47
26 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46
27 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45
28 c ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 45
29 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 45
30 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 44
31 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 43
32 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 41
33 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 41
34 MLG005 Malignant Spindle Cell Melanoma 40
35 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34
36 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 34
37 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 33
38 TXC003 Toxicodendron Dermatitis 33
39 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 31
40 c PST022 Posterior Uveal Melanoma 42
41 c HRD223 Hereditary Melanoma 39
42 EPD081 Epidermoid Brain Cyst 25
43 ESP016 Esophagus Melanoma 23
44 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 14
45 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 13
46 c MLN055 Melanoma, Cutaneous Malignant 10 52
47 LPD014 Lipodermatosclerosis 38
48 MLN070 Melanoma-Astrocytoma Syndrome 37
49 TNN002 Tinea Unguium 35
50 GMZ002 Gomez-Lopez-Hernandez Syndrome 30
51 c EPD086 Epidermodysplasia Verruciformis 4 23
52 c MLN074 Melanoma, Cutaneous Malignant 4 20
53 c MLN040 Melanoma, Cutaneous Malignant 7 20
54 SPR033 Superficial Spreading Melanoma 18
55 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 44
56 XRD027 Xeroderma Pigmentosum Group E 39
57 PHT004 Photoallergic Dermatitis 28
58 DRM050 Dermographism, Familial 28
59 c EPD085 Epidermodysplasia Verruciformis 3 25
60 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 23
61 c EPD084 Epidermodysplasia Verruciformis 2 21
62 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 20
63 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 17
64 MLG052 Malignant Cornea Melanoma 8
65 GNT084 Genetic Photodermatosis 5
66 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 34
67 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 22
68 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 19
69 c EPD087 Epidermodysplasia Verruciformis 5 18
70 c PLN021 Peeling Skin Syndrome 3 18
71 UNN001 Unna-Thost Palmoplantar Keratoderma 11
72 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 27
73 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 20
74 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 18
75 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 11
76 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 5
77 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 5
78 DFF003 Diffuse Scleroderma 41
79 MLG142 Malignant Conjunctival Melanoma 36
80 MLG061 Malignant Choroid Melanoma 34
81 MNN010 Meningeal Melanoma 30
82 MLG038 Malignant Anus Melanoma 29
83 c PLN024 Peeling Skin Syndrome 4 26
84 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 25
85 MLG062 Malignant Ciliary Body Melanoma 25
86 MLG070 Malignant Iris Melanoma 23
87 MLG008 Malignant Breast Melanoma 22
88 MLN071 Melanoma Tumor Antigen Gp90 17
89 KRT023 Keratoderma Palmoplantaris Transgrediens 14
90 MXD040 Mixed Cell Uveal Melanoma 13
91 c PRM047 Primary Malignant Melanoma of the Cervix 11
92 RCT003 Rectum Malignant Melanoma 11
93 RTN010 Retinal Melanoma 9
94 JNS005 Jones Hersh Yusk Syndrome 9
95 P FRN057 Furuncular Myiasis Due to Cordylobia Anthropophaga 9
96 c FRN056 Furuncular Myiasis Due to Dermatobia Hominis 7
97 CHR448 Choroid Mixed Cell Melanoma 6
98 c FRN055 Furuncular Myiasis Due to Cordylobia Rodhaini 6
99 TNC002 Tinea Capitis 38
100 EPD070 Epidermoid Cysts 37
101 KSK002 Kosaki Overgrowth Syndrome 33
102 EPD025 Epidermolysis Bullosa with Pyloric Atresia 28
103 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 26
104 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 25
105 IMM145 Immunodeficiency 11b with Atopic Dermatitis 20
106 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 20
107 c DWL002 Dowling-Degos Disease 1 58
108 DRM011 Dermatophytosis 52
109 KWS001 Kwashiorkor 44
110 NCK004 Nickel Allergic Contact Dermatitis 35
111 INT379 Integumentary System Disease 28
112 PLL016 Palladium Allergic Contact Dermatitis 27
113 c PLN028 Peeling Skin Syndrome 6 23
114 c PLN025 Peeling Skin Syndrome 5 18
115 PRC021 Parc Syndrome 17
116 DPD001 Deep Dermatophytosis 16
117 c DWL005 Dowling-Degos Disease 3 13
118 CHR011 Choroid Spindle Cell Melanoma 8
119 FRM010 Formaldehyde Allergic Contact Dermatitis 7
120 CBL009 Cobalt Allergic Contact Dermatitis 7
121 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 6
122 BNZ004 Benzoic Acid Allergic Contact Dermatitis 5
123 KTP001 Ketoprofen Photoallergic Dermatitis 5
124 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 5
125 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 4
126 CRV076 Carvone Allergic Contact Dermatitis 4
127 PRT137 Parthenolide Allergic Contact Dermatitis 4
128 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 4
129 MCS004 Mucosal Melanoma 46
130 WND001 Wound Botulism 39
131 VLV020 Vulvar Melanoma 36
132 MNN008 Meningeal Melanomatosis 30
133 TCH005 Tièche-Jadassohn Nevus 28
134 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27
135 GLL012 Gallbladder Melanoma 25
136 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
137 EPT001 Epithelioid Cell Melanoma 21
138 JNC002 Junctional Epidermolysis Bullosa Inversa 21
139 CTN001 Cutaneous Solitary Mastocytoma 21
140 SPN025 Spinal Cord Melanoma 20
141 SPN047 Spindle Cell Intraocular Melanoma 18
142 ATM026 Autoimmune Progesterone Dermatitis 18
143 CND003 Candidal Paronychia 18
144 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 17
145 DFF028 Diffuse Leptomeningeal Melanocytosis 17
146 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 15
147 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 14
148 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 13
149 BRS103 Bier Spots 12
150 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 12
151 c MLN039 Melanoma, Uveal 1 12
152 MGR041 Megarbane-Jalkh Syndrome 11
153 c MLN041 Melanoma, Uveal 2 11
154 DYS044 Dysmorphism Cleft Palate Loose Skin 11
155 RDS002 Red Skin Pigment Anomaly of New Guinea 10
156 CHR045 Choroid Necrotic Melanoma 8
157 SCR012 Scrotum Melanoma 7
158 ADL009 Adult Leptomeningeal Melanoma 7
159 CLR002 Ciliary Body Spindle Cell Melanoma 7
160 JDG001 Judge Misch Wright Syndrome 6
161 PDT007 Pediatric Leptomeningeal Melanoma 6
162 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
163 UVL002 Uveal Epithelioid Cell Melanoma 5
164 CHR014 Choroid Epithelioid Cell Melanoma 5
165 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 4
166 GRR001 Garret Tripp Syndrome 4
167 DRM062 Dermoid or Epidermoid Cyst of the Central Nervous System 4
168 c FNC027 Fanconi Anemia, Complementation Group a 81
169 c FNC043 Fanconi Anemia, Complementation Group E 62
170 MXD005 Mixed Connective Tissue Disease 58
171 P FNC044 Fanconi Anemia, Complementation Group C 57
172 c FNC042 Fanconi Anemia, Complementation Group D2 56
173 c FNC029 Fanconi Anemia, Complementation Group I 54
174 c FNC024 Fanconi Anemia, Complementation Group D1 52
175 ONC002 Onchocerciasis 52
176 c FNC025 Fanconi Anemia, Complementation Group J 52
177 c FNC046 Fanconi Anemia, Complementation Group P 50
178 c FNC048 Fanconi Anemia, Complementation Group O 49
179 c FNC028 Fanconi Anemia, Complementation Group L 49
180 c FNC032 Fanconi Anemia, Complementation Group B 48
181 c FNC023 Fanconi Anemia, Complementation Group N 48
182 c FNC047 Fanconi Anemia, Complementation Group Q 46
183 c FNC045 Fanconi Anemia, Complementation Group F 46
184 CRS005 Crest Syndrome 43
185 c FNC058 Fanconi Anemia, Complementation Group R 43
186 c FNC057 Fanconi Anemia, Complementation Group U 43
187 c FNC030 Fanconi Anemia, Complementation Group G 41
188 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 40
189 c FNC052 Fanconi Anemia, Complementation Group T 40
190 c FNC056 Fanconi Anemia, Complementation Group V 39
191 HMF008 Hemifacial Atrophy, Progressive 39
192 c BRT028 Brittle Cornea Syndrome 1 36
193 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 35
194 c FNC062 Fanconi Anemia, Complementation Group S 34
195 LNT002 Lentigo Maligna Melanoma 33
196 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 32
197 OCL034 Oculocerebrocutaneous Syndrome 32
198 c CRB100 Cerebrooculofacioskeletal Syndrome 4 32
199 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 31
200 c CRB098 Cerebrooculofacioskeletal Syndrome 2 30
201 c CRB099 Cerebrooculofacioskeletal Syndrome 3 29
202 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 25
203 c FNC061 Fanconi Anemia, Complementation Group W 24
204 MLN046 Melanoma-Associated Retinopathy 24
205 BDN002 Bednar Tumor 24
206 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 21
207 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 19
208 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 17
209 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
210 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 16
211 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 12
212 DFF018 Diffuse Dermal Angiomatosis 12
213 YSH001 Yusho Disease 11
214 KRT062 Keratoderma with Woolly Hair 10
215 MLT163 Multiple Pterygium Syndrome, Escobar Variant 64
216 CMP010 Complex Regional Pain Syndrome 58
217 P PLY147 Polydactyly, Postaxial, Type A1 53
218 SCB001 Scabies 50
219 ESN015 Eosinophilic Fasciitis 48
220 NLS001 Nelson Syndrome 45
221 c PCH010 Pachyonychia Congenita 3 44
222 PST053 Postherpetic Neuralgia 40
223 c PCH012 Pachyonychia Congenita 2 40
224 ACN010 Acanthoma 38
225 P PST059 Pustular Psoriasis 37
226 SPT007 Spitz Nevus 34
227 PPL052 Papillomatosis, Confluent and Reticulated 33
228 CMP060 Complement Component 9 Deficiency 32
229 PNC060 Punctate Porokeratosis 29
230 EPD004 Epidermolytic Acanthoma 26
231 c PCH011 Pachyonychia Congenita 4 26
232 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 24
233 c DWL003 Dowling-Degos Disease 2 22
234 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 20
235 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19
236 NCR008 Necrotic Uveal Melanoma 18
237 c PSR022 Psoriasis 15, Pustular 18
238 c PLY178 Polydactyly, Postaxial, Type A8 17
239 c PLY103 Polydactyly, Postaxial, Type A5 16
240 ALG003 Al Gazali Aziz Salem Syndrome 15
241 c PLY182 Polydactyly, Postaxial, Type A9 15
242 HLN003 Halo Nevus 15
243 c PLY184 Polydactyly, Postaxial, Type A10 15
244 LSS041 Lessel-Kubisch Syndrome 15
245 c PLY101 Polydactyly, Postaxial, Type A6 15
246 c PLY163 Polydactyly, Postaxial, Type A2 15
247 c PLY144 Polydactyly, Postaxial, Type A7 15
248 TBR017 Tuberculin Skin Test Reactivity, Absence of 14
249 c PLY054 Polydactyly, Postaxial, Type A4 13
250 c PLY053 Polydactyly, Postaxial, Type A3 13
251 CHR679 Chromium Allergic Contact Dermatitis 12
252 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 12
253 DRM047 Dermatoglyphics--Arch on Any Digit 7
254 END012 Endometriosis in Scar of Skin 6
255 IRS001 Iris Spindle Cell Melanoma 6
256 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
257 PTS020 Potassium Dichromate Allergic Contact Dermatitis 3
258 P CRN038 Carney Complex Variant 61
259 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58
260 TLR001 Tularemia 51
261 HYP781 Hypoascorbemia 51
262 RYN001 Raynaud Disease 48
263 P DPY001 Dupuytren Contracture 48
264 c WRD032 Waardenburg Syndrome, Type 2a 46
265 c CRN243 Carney Complex, Type 1 43
266 PLL008 Pallister-Killian Syndrome 43
267 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 39
268 MCC013 Mucocutaneous Ulceration, Chronic 39
269 PTY002 Pityriasis Versicolor 38
270 ANG065 Angioma, Tufted 38
271 RTC001 Reticulohistiocytic Granuloma 32
272 MLN002 Melanomatosis 29
273 c WRD029 Waardenburg Syndrome, Type 2b 29
274 PRN035 Perniosis 28
275 HLN001 Halo Nevi 27
276 ZNC004 Zinc Deficiency, Transient Neonatal 25
277 DRM046 Dermal Ridges-off-the-End 24
278 OVR104 Ovarian Melanoma 22
279 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 20
280 AQG001 Aquagenic Pruritus 19
281 NTL003 Notalgia Paresthetica 19
282 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 19
283 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 18
284 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 18
285 c CRN298 Carney Complex, Type 2 18
286 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 18
287 LNR001 Leiner Disease 17
288 THM021 Thumb Deformity and Alopecia 17
289 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 16
290 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 14
291 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 13
292 NNT046 Neonatal Dermatomyositis 12
293 P CRV009 Cervix Melanoma 12
294 c LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12
295 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
296 PTT039 Pituitary Dermoid and Epidermoid Cysts 11
297 EPD079 Epidermodysplasia Verruciformis, X-Linked 11
298 PSD110 Pseudoatrophoderma Colli 11
299 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 11
300 HRY007 Hairy Palms and Soles 11
301 NNT043 Neonatal Scleroderma 10
302 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 10
303 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
304 HST020 Histiocytic Dermatoarthritis 9
305 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 9
306 MLN068 Melanoma, Malignant Familial Intraocular 9
307 DRM045 Dermal Ridges, Patternless 9
308 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 8
309 DRM049 Dermatoglyphics--Fingerprint Pattern 8
310 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 8
311 DRM044 Dermal Ridges, Nelson Syndrome 7
312 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7
313 BRR007 Borrone Di Rocco Crovato Syndrome 7
314 BSR001 Basaran Yilmaz Syndrome 7
315 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 6
316 DRM052 Dermatoglyphics--Hypothenar Radial Arch 6
317 P APL009 Aplasia Cutis Congenita of Limbs Recessive 6
318 ELL003 Elliott Ludman Teebi Syndrome 5
319 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
320 GNT094 Genetic Pigmentation Anomaly of the Skin 5
321 INT023 Intermediate Cell Type Ciliary Body Melanoma 4
322 CLR004 Ciliary Body Epithelioid Cell Melanoma 4
323 PRM048 Primary Malignant Melanoma of the Conjunctiva 4
324 CLR008 Ciliary Body Mixed Cell Melanoma 4
325 IRS002 Iris Mixed Cell Melanoma 4
326 DRM048 Dermatoglyphics--Finger Ridge Count 4
327 MLG096 Malignant Melanoma, Childhood 3
328 GNT085 Genetic Immune Deficiency with Skin Involvement 3
329 GNT088 Genetic Skin Vascular Disorder 3
330 GNT087 Genetic Skin Tumor 3
331 GNT091 Genetic Hyperpigmentation of the Skin 3
332 GNT092 Genetic Hypopigmentation of the Skin 3
333 GNT100 Genetic Epidermal Disorder 3
334 MSM009 Mesomelic Dysplasia Skin Dimples 2
335 GNT095 Genetic Erythrokeratoderma 2
336 GNT097 Genetic Acrokeratoderma 2
337 GNT098 Genetic Epidermal Appendage Anomaly 2
338 OTH024 Other Genetic Epidermal Disease 2
339 c FML226 Familial Dupuytren Contracture 2
340 CDK001 Cdk4 Linked Melanoma 1
341 DRM018 Dermatocardioskeletal Syndrome Boronne Type 1
342 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 1
343 P CRD224 Cardiofaciocutaneous Syndrome 1 70
344 P SYS005 Systemic Scleroderma 68
345 HYL004 Hyaline Fibromatosis Syndrome 67
346 CTN007 Cutaneous Leishmaniasis 62
347 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 62
348 P PRP029 Porphyria 62
349 c LPM012 Lipomatosis, Multiple 60
350 ACN002 Acanthosis Nigricans 60
351 OCC006 Occipital Horn Syndrome 60
352 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
353 P SYP003 Syphilis 58
354 P URT039 Urticaria 58
355 c ANG068 Angioedema, Hereditary, Type I 57
356 P ANG015 Angioedema 57
357 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55
358 HDR002 Hidradenitis Suppurativa 55
359 P PRK001 Porokeratosis 55
360 P CLS054 Classic Ehlers-Danlos Syndrome 54
361 RSC001 Rosacea 54
362 RFL001 Reflex Sympathetic Dystrophy 54
363 P ICH004 Ichthyosis 54
364 P CTN003 Cutaneous Lupus Erythematosus 53
365 NNT012 Neonatal Jaundice 53
366 HYP088 Hyper-Igd Syndrome 52
367 KRT009 Keratosis 51
368 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 51
369 CCT002 Cicatricial Pemphigoid 51
370 PNN001 Panniculitis 51
371 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51
372 c ACT078 Acute Porphyria 51
373 P HYP077 Hypertrichosis 50
374 LNT004 Lentigines 50
375 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
376 HRT031 Hartnup Disorder 50
377 PRN014 Paronychia 49
378 HDR003 Hidradenitis 49
379 NCR007 Necrotizing Fasciitis 48
380 CHL056 Cheilitis 48
381 CRY008 Cryopyrin-Associated Periodic Syndrome 47
382 PST062 Pustulosis Palmaris Et Plantaris 47
383 ANH002 Anhidrosis 47
384 c PSR032 Psoriasis 11 47
385 P KRN004 Kernicterus 47
386 ANL022 Anal Fistula 46
387 P LPM005 Lipomatosis 46
388 AND014 Androgenic Alopecia 46
389 FLL008 Folliculitis 46
390 SPR010 Sporotrichosis 46
391 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 46
392 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 45
393 PTY001 Pityriasis Rosea 44
394 ATR013 Atrichia with Papular Lesions 44
395 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 43
396 CRB016 Carbuncle 43
397 MYC013 Mycobacterium Abscessus 43
398 SLT014 Salt and Pepper Developmental Regression Syndrome 43
399 P HRD018 Hair Disease 43
400 VRL003 Variola Major 43
401 PRN049 Paraneoplastic Pemphigus 42
402 HYP457 Hypertrophic Scars 42
403 URM005 Uremic Pruritus 42
404 c PSR028 Psoriasis 7 42
405 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 42
406 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42
407 c PRK082 Porokeratosis 1, Multiple Types 41
408 c SCN006 Secondary Syphilis 40
409 MJD001 Majeed Syndrome 40
410 c CNG033 Congenital Syphilis 40
411 c CRD163 Cardiofaciocutaneous Syndrome 2 39
412 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
413 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 39
414 c MLG036 Malignant Spiradenoma 38
415 c ACQ012 Acquired Angioedema 38
416 KLD003 Keloid Formation 38
417 CTN011 Cutaneous Porphyria 38
418 P SYR003 Syringoma 37
419 c HMN027 Hemangioma, Capillary Infantile 37
420 BLP004 Blepharophimosis 37
421 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 35
422 c CRD164 Cardiofaciocutaneous Syndrome 3 35
423 HYP137 Hypotrichosis Simplex 35
424 FXD003 Fixed Drug Eruption 35
425 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35
426 c CRD167 Cardiofaciocutaneous Syndrome 4 35
427 PRM329 Premature Aging 35
428 MLG141 Malignant Atrophic Papulosis 35
429 TKN001 Takenouchi-Kosaki Syndrome 35
430 CLD011 Cold Urticaria 35
431 P ENT005 Entropion 34
432 EMY001 Eumycotic Mycetoma 34
433 PHY008 Physical Urticaria 34
434 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 34
435 P CLR001 Clear Cell Acanthoma 34
436 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 34
437 MLR001 Miliaria Rubra 34
438 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
439 c PSR025 Psoriasis 4 33
440 LPD026 Lipedema 33
441 KNC002 Knuckle Pads 33
442 ERY002 Erythema Infectiosum 33
443 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 33
444 c SBC035 Subacute Cutaneous Lupus Erythematosus 32
445 c PRK080 Porokeratosis 3, Multiple Types 32
446 c LCL022 Localized Lipodystrophy 32
447 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 32
448 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 32
449 INF046 Infantile Digital Fibromatosis 32
450 c LTC001 Late Congenital Syphilis 32
451 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
452 c ANG045 Angioedema, Hereditary, Type Iii 31
453 FLL019 Follicular Mucinosis 31
454 MNG001 Mongolian Spot 31
455 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 31
456 P DYS023 Dyschromatosis Universalis Hereditaria 31
457 P PLT008 Pili Torti 31
458 LCH003 Lichen Nitidus 31
459 c PRM022 Primary Syphilis 31
460 LCH014 Lichen Amyloidosis 31
461 LGP001 Lagophthalmos 30
462 CHL035 Cholinergic Urticaria 30
463 ERY066 Erythema Multiforme Major 30
464 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 30
465 TLG001 Telogen Effluvium 30
466 PMP009 Pemphigus Erythematosus 30
467 c PSR033 Psoriasis 12 30
468 SNL004 Senile Ectropion 29
469 SQM003 Squamous Blepharitis 29
470 BNG069 Benign Cephalic Histiocytosis 28
471 NVS007 Nevus of Ota 28
472 SPS002 Spastic Entropion 28
473 HST022 Histiocytoma, Angiomatoid Fibrous 28
474 c PSR031 Psoriasis 10 28
475 c PSR024 Psoriasis 3 28
476 QNQ002 Quinquaud Folliculitis Decalvans 28
477 c PRK075 Porokeratosis 7, Multiple Types 27
478 c ACQ043 Acquired Lipodystrophy 27
479 HYP160 Hyperkeratosis Lenticularis Perstans 27
480 PMP008 Pemphigus Vegetans 27
481 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
482 IMP001 Impetigo Herpetiformis 27
483 c UVS005 Uv-Sensitive Syndrome 1 27
484 ANH001 Ainhum 27
485 c PSR026 Psoriasis 5 27
486 c PSR034 Psoriasis 15 27
487 BLP001 Blepharochalasis 27
488 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27
489 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 27
490 HRY005 Hairy Elbows 27
491 APC003 Apocrine Adenoma 27
492 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 27
493 DFF010 Diffuse Alopecia Areata 26
494 CLR013 Clear Cell Hidradenoma 26
495 LCH004 Lichen Disease 26
496 ECT004 Ecthyma 26
497 c LRG002 Large Cell Acanthoma 26
498 GNR023 Generalized Eruptive Histiocytosis 26
499 PSD078 Pseudofolliculitis Barbae 25
500 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
501 CCT001 Cicatricial Ectropion 25
502 c ACQ027 Acquired Cutis Laxa 25
503 ACR039 Acromegaloid Hypertrichosis Syndrome 25
504 HYP267 Hyperchlorhidrosis, Isolated 25
505 CNR001 Coenurosis 25
506 DFF009 Diffuse Lipomatosis 25
507 c PSR027 Psoriasis 6 25
508 VLV039 Vulvar Seborrheic Keratosis 25
509 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
510 INF022 Inflamed Seborrheic Keratosis 25
511 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
512 c ERL002 Early Congenital Syphilis 25
513 c PSR029 Psoriasis 9 24
514 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
515 P PPL026 Papular Mucinosis 24
516 ANG006 Angiokeratoma of Mibelli 24
517 c PLT022 Pili Torti, Early-Onset 24
518 LLS001 Lelis Syndrome 24
519 LDW001 Ludwig's Angina 23
520 SNL001 Senile Entropion 23
521 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 23
522 KYR001 Kyrle Disease 23
523 ULC005 Ulcer of Lower Limbs 23
524 P HYD015 Hydroa Vacciniforme 22
525 c PSR030 Psoriasis 8 22
526 EXF002 Exfoliative Ichthyosis 22
527 c UVS003 Uv-Sensitive Syndrome 3 22
528 GNR033 Generalized Eruptive Keratoacanthoma 22
529 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 22
530 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 21
531 MLR026 Miliaria Crystallina 21
532 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 21
533 MLN005 Melanoacanthoma 21
534 PRG077 Progressive Nodular Histiocytosis 21
535 PRL006 Paralytic Lagophthalmos 21
536 URT052 Urticaria, Aquagenic 21
537 ATR052 Atrophic Lichen Planus 21
538 MDS003 Mediastinal Lipomatosis 21
539 CCT003 Cicatricial Entropion 21
540 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 21
541 MCL047 Macular Amyloidosis 21
542 P CTS012 Cutis Verticis Gyrata 20
543 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 20
544 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
545 CNJ004 Conjunctival Pigmentation 20
546 c DWL004 Dowling-Degos Disease 4 20
547 WRB006 Warburg-Cinotti Syndrome 20
548 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 20
549 HYP641 Hypotrichosis Simplex of the Scalp 20
550 TRC114 Trichodental Dysplasia 20
551 CYT017 Cytophagic Histiocytic Panniculitis 20
552 c PRK074 Porokeratosis 9, Multiple Types 20
553 KRT077 Keratinopathic Ichthyosis 19
554 PMP013 Pemphigus Gestationis 19
555 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 19
556 MLR025 Miliaria Profunda 19
557 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
558 HRP026 Herpetiform Pemphigus 19
559 c UVS004 Uv-Sensitive Syndrome 2 19
560 AML012 Ameloonychohypohidrotic Syndrome 19
561 P PRM210 Primary Lipodystrophy 19
562 c PRM188 Primary Cutis Verticis Gyrata 18
563 OTN001 Otoonychoperoneal Syndrome 18
564 SND006 Sonoda Syndrome 18
565 PTR029 Pterygium, Antecubital 18
566 LPS018 Lupus Erythematosus Panniculitis 18
567 MCH001 Mechanical Ectropion 18
568 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
569 c PRK084 Porokeratosis 6, Multiple Types 17
570 ERY050 Erythema Palmare Hereditarium 17
571 WRT005 Warty Dyskeratoma 17
572 c INH022 Inherited Ichthyosis 17
573 c HRN019 Hair-an Syndrome 17
574 P NDL017 Nodular Cutaneous Amyloidosis 17
575 c CHR471 Chronic Hepatic Porphyria 16
576 c INT047 Internal Hordeolum 16
577 MLR024 Miliaria Pustulosa 16
578 ANN014 Annular Lichen Planus 15
579 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
580 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
581 HYP039 Hypodermyiasis 15
582 ONY005 Onychomatricoma 15
583 CNG238 Congenital Panfollicular Nevus 15
584 ULC003 Ulcerative Blepharitis 15
585 PMP003 Pemphigus and Fogo Selvagem 14
586 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
587 LCL017 Localized Pagetoid Reticulosis 14
588 DRM038 Dermotrichic Syndrome 14
589 c RRC001 Rare Cutaneous Lupus Erythematosus 14
590 PLT010 Pili Torti Onychodysplasia 14
591 ICH012 Ichthyosis Hystrix Gravior 14
592 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
593 c RRD053 Rare Disorder with Hypertrichosis 13
594 RCH009 Roch-Leri Mesosomatous Lipomatosis 13
595 c DYS091 Dyschromatosis Universalis Hereditaria 2 13
596 CCT004 Cicatricial Lagophthalmos 13
597 CHR175 Chromhidrosis 12
598 ACR040 Acromelanosis 12
599 PLB003 Pili Bifurcati 12
600 c SYR009 Syringomas, Multiple 12
601 CRP016 Creeping Myiasis 12
602 c PPL045 Papular Mucinosis of Infancy 12
603 CRC033 Circumscribed Palmoplantar Hypokeratosis 12
604 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 12
605 c NNS071 Nonsyndromic Congenital Nail Disorder 11
606 c ACQ036 Acquired Angioedema Type 2 11
607 c HYD016 Hydroa Vacciniforme, Familial 11
608 CNT011 Contact Blepharoconjunctivitis 11
609 ANG010 Angular Blepharoconjunctivitis 11
610 SCR010 Scrotal Angioma 11
611 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 11
612 c AMY014 Amyloidosis Nodular Localized Cutaneous 11
613 ONY006 Onychodystrophy-Anonychia 11
614 PNN006 Panniculitis-Induced Localized Lipodystrophy 10
615 ATS117 Autosomal Recessive Nail Dysplasia 10
616 MXL007 Maxillary Sinus Cholesteatoma 10
617 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
618 DDY001 Didymosis Aplasticosebacea 10
619 DSC010 Discrete Papular Lichen Myxedematosus 9
620 FBR005 Fibroepithelial Polyp of Urethra 9
621 ATY027 Atypical Lichen Myxedematosus 9
622 MCH004 Mechanical Entropion 9
623 SPS001 Spastic Ectropion 9
624 SLF008 Self-Healing Papular Mucinosis 9
625 c KRN003 Kernicterus Due to Isoimmunization 8
626 PRR034 Pruritus, Hereditary Localized 8
627 NDL018 Nodular Urticaria Pigmentosa 8
628 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
629 c ACQ035 Acquired Angioedema Type 1 7
630 DCT001 Dioctophymiasis 7
631 c BCT003 Bacterial Exanthem 7
632 c RRR007 Rare Urticaria 7
633 c ATS439 Autosomal Ichthyosis Syndrome 7
634 CHL020 Cholesteatoma of Attic 7
635 STR010 Steroid Lipomatosis 7
636 VLV007 Vulvar Inverted Follicular Keratosis 7
637 FRG002 Ferguson-Smith Tumor 6
638 NDL019 Nodular Lichen Myxedematosus 6
639 STR006 Stromal Corneal Pigmentation 6
640 SCL040 Scleromyxedema Without Monoclonal Gammopathy 6
641 ISL149 Isolated Nail Anomaly 6
642 MCH005 Mechanical Lagophthalmos 5
643 DRM063 Dermis Disorder 5
644 P DRM064 Dermis Elastic Tissue Disorder 5
645 VRR005 Verrucous Nevus Acanthokeratolytic 5
646 PLQ001 Plaque-Form Urticaria Pigmentosa 5
647 c ACQ061 Acquired Dermis Elastic Tissue Disorder 5
648 c RRD046 Rare Disorder with Entropion 4
649 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
650 GNT129 Genetic Dermis Elastic Tissue Disorder 3
651 ACQ063 Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue 3
652 ATS440 Autosomal Ichthyosis Syndrome with Other Associated Signs 3
653 ATS442 Autosomal Ichthyosis Syndrome with Fatal Disease Course 3
654 SYN139 Syndromic Nail Anomaly 3
655 OTH022 Other Dermis Disorder 3
656 MLN047 Melanoma-Pancreatic Cancer Syndrome 29
657 SQM006 Squamous Cell Carcinoma 60
658 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 52
659 BP1002 Bap1 Tumor Predisposition Syndrome 42
660 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 23
661 c CLR017 Clear Cell Sarcoma 45
662 P SML002 Small Cell Sarcoma 27
663 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 53
664 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 27
665 CRR017 Curry-Jones Syndrome 37
666 RRG043 Rare Genetic Skin Disease 22
667 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
668 P THN009 Thanatophoric Dysplasia, Type I 62
669 BLL001 Baller-Gerold Syndrome 59
670 P MYS005 Myositis 56
671 PRN038 Prune Belly Syndrome 56
672 c THN010 Thanatophoric Dysplasia, Type Ii 45
673 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
674 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 40
675 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 32
676 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
677 c VRL025 Viral Myositis 15
678 c BCT018 Bacterial Myositis 14
679 CNN005 Connective Tissue Disease 68
680 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 54
681 FRN039 Frank-Ter Haar Syndrome 54
682 VLV034 Vulva Squamous Cell Carcinoma 48
683 FTL075 Fetal Encasement Syndrome 46
684 SQM002 Squamous Cell Papilloma 46
685 LYM008 Lymphangiosarcoma 45
686 MND023 Mend Syndrome 43
687 CNJ018 Conjunctival Squamous Cell Carcinoma 41
688 CPL002 Capillary Lymphangioma 37
689 P TRC095 Trichoepithelioma, Multiple Familial, 1 33
690 YSY001 Yao Syndrome 33
691 IMM193 Immunodeficiency 58 26
692 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
693 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
694 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 5
695 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 5
696 P BRS047 Breast Cancer 97
697 c HRD010 Hereditary Spastic Paraplegia 66
698 c MLG084 Malignant Fibrous Histiocytoma 63
699 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
700 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
701 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57
702 c BSL024 Basal Cell Carcinoma 1 56
703 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
704 P INF049 Infantile Myofibromatosis 56
705 OCL009 Ocular Cancer 55
706 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
707 P CPL006 Capillary Hemangioma 51
708 c BRS049 Breast Carcinoma in Situ 51
709 c INF023 Inflammatory Breast Carcinoma 50
710 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
711 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
712 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 47
713 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
714 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
715 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 46
716 MYX013 Myxofibrosarcoma 45
717 MLR003 Melorheostosis 45
718 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 45
719 c SPR009 Sporadic Breast Cancer 45
720 ANL017 Anal Squamous Cell Carcinoma 44
721 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
722 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
723 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
724 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 43
725 c MYF007 Myofibromatosis, Infantile, 1 43
726 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42
727 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
728 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
729 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
730 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
731 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 41
732 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 41
733 P PRN020 Paranasal Sinus Cancer 41
734 OST014 Osteopoikilosis 41
735 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
736 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
737 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
738 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
739 PNS010 Penis Squamous Cell Carcinoma 40
740 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
741 PPL004 Papillary Squamous Carcinoma 40
742 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 40
743 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
744 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
745 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
746 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 39
747 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
748 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
749 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
750 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
751 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
752 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
753 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
754 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
755 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 37
756 KRT003 Keratinizing Squamous Cell Carcinoma 37
757 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 36
758 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 35
759 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
760 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 35
761 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 35
762 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 34
763 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
764 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 34
765 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 33
766 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
767 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
768 GLL015 Gallbladder Squamous Cell Carcinoma 30
769 MXL004 Maxillary Sinus Squamous Cell Carcinoma 30
770 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
771 ATN022 Autoinflammation, Antibody Deficiency, and Immune Dysregulation 30
772 c SPS021 Spastic Paraplegia 10 30
773 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
774 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
775 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
776 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
777 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
778 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
779 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
780 c SPS091 Spastic Paraplegia 4 28
781 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
782 GLT004 Glottis Squamous Cell Carcinoma 27
783 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
784 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
785 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
786 c HRD220 Hereditary Spastic Paraplegia 30 27
787 P SPS012 Spastic Paraplegia 3a 26
788 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
789 c SPS092 Spastic Paraplegia 11 25
790 c SPS013 Spastic Paraplegia 8 25
791 THY027 Thymus Squamous Cell Carcinoma 25
792 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
793 c HRD186 Hereditary Spastic Paraplegia 51 24
794 c SPS039 Spastic Paraplegia 5a 23
795 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
796 c SPS025 Spastic Paraplegia 15 23
797 SPR023 Supraglottis Squamous Cell Carcinoma 23
798 c HRD188 Hereditary Spastic Paraplegia 72 23
799 c SPS036 Spastic Paraplegia 3 23
800 c SPS027 Spastic Paraplegia 17 22
801 c HRD210 Hereditary Spastic Paraplegia 23 22
802 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
803 MLN064 Melanoma of Soft Tissue 21
804 URT021 Ureter Squamous Cell Carcinoma 20
805 RSS027 Russell-Silver Syndrome, X-Linked 19
806 c SPS041 Spastic Paraplegia 6 19
807 c SPS028 Spastic Paraplegia 18 17
808 c SPS023 Spastic Paraplegia 13 16
809 ULR001 Ulerythema Ophryogenesis 15
810 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
811 c SPS042 Spastic Paraplegia 9 15
812 c SPS032 Spastic Paraplegia 24 15
813 FRN005 Frontal Sinus Squamous Cell Carcinoma 14
814 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 14
815 c SPS038 Spastic Paraplegia 39 14
816 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
817 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
818 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 13
819 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
820 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
821 c SPS022 Spastic Paraplegia 12 13
822 c SPS029 Spastic Paraplegia 19 13
823 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
824 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 13
825 c SPS035 Spastic Paraplegia 29 13
826 TRC017 Trachea Squamous Cell Carcinoma 13
827 c SPS034 Spastic Paraplegia 26 13
828 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
829 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
830 c SPS033 Spastic Paraplegia 25 12
831 c SPS161 Spastic Paraplegia 32 12
832 c SPS024 Spastic Paraplegia 14 12
833 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
834 URT034 Urethra Squamous Cell Carcinoma 12
835 c SPS165 Spastic Paraplegia 47 12
836 c SPS230 Spastic Paraplegia Type 49 11
837 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 11
838 c SPS026 Spastic Paraplegia 16 11
839 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
840 SBG004 Subglottis Squamous Cell Carcinoma 9
841 CRN001 Cornea Squamous Cell Carcinoma 9
842 BDH001 Boudhina Yedes Khiari Syndrome 8
843 TNG005 Tang Hsi Ryu Syndrome 8
844 c SPS040 Spastic Paraplegia 5b 7
845 MLN017 Milner Khallouf Gibson Syndrome 5
846 KZN001 Kuzniecky Andermann Syndrome 4
847 RRD016 Rare Developmental Defect with Skin/mucosae Involvement 4
848 c PRN030 Paranasal Sinus Cancer, Adult 3
849 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81
850 P WSK001 Wiskott-Aldrich Syndrome 72
851 CST001 Costello Syndrome 68
852 c CNG411 Congenital Disorder of Glycosylation, Type in 68
853 P DYS007 Dyskeratosis Congenita 67
854 FCL009 Focal Dermal Hypoplasia 66
855 P CTS001 Cutis Laxa 65
856 CRB011 Cerebrotendinous Xanthomatosis 65
857 PLL001 Pallister-Hall Syndrome 64
858 c ATS013 Autosomal Recessive Congenital Ichthyosis 63
859 SKN016 Skin Disease 63
860 P ECT006 Ectodermal Dysplasia 62
861 DNH001 Donohue Syndrome 62
862 CHN055 Chanarin-Dorfman Syndrome 61
863 DRM006 Dermatitis 61
864 DCB001 Decubitus Ulcer 61
865 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 60
866 CHR288 Chronic Recurrent Multifocal Osteomyelitis 60
867 P ALP009 Alopecia Areata 60
868 P SPN309 Spinocerebellar Ataxia 6 59
869 FRB001 Farber Lipogranulomatosis 59
870 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59
871 P ADM011 Adams-Oliver Syndrome 59
872 ALP097 Alopecia Universalis Congenita 59
873 KRT071 Keratosis, Seborrheic 58
874 c SPN301 Spinocerebellar Ataxia 2 58
875 TTZ003 Tietz Albinism-Deafness Syndrome 58
876 MCS006 Macs Syndrome 58
877 CNT047 Contact Dermatitis 58
878 P EPD003 Epidermolysis Bullosa Simplex 58
879 GRN051 Granulomatous Disease, Chronic, X-Linked 57
880 P EXN002 Exanthem 57
881 DSS009 Disseminated Intravascular Coagulation 57
882 LYM021 Lymphadenitis 57
883 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
884 VGT001 Vogt-Koyanagi-Harada Disease 55
885 ICH001 Ichthyosis Vulgaris 55
886 CHR100 Chronic Ulcer of Skin 55
887 P DRM007 Dermatitis Herpetiformis 55
888 P JNC001 Junctional Epidermolysis Bullosa 54
889 P ALP008 Alopecia 54
890 RVS001 Revesz Syndrome 54
891 STF002 Stiff Skin Syndrome 54
892 CLL003 Cellulitis 54
893 c SPN294 Spinocerebellar Ataxia 1 53
894 P LCH002 Lichen Planus 53
895 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
896 c PSR017 Psoriasis 2 53
897 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
898 c SPN291 Spinocerebellar Ataxia 7 52
899 PST011 Pustulosis of Palm and Sole 52
900 c PSR023 Psoriasis 1 52
901 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
902 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
903 PLM135 Palmoplantar Keratoderma, Bothnian Type 51
904 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
905 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
906 c SPN296 Spinocerebellar Ataxia 17 51
907 WLL006 Wells Syndrome 50
908 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50
909 BLP005 Blepharitis 50
910 PYD002 Pyoderma 50
911 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50
912 P OCL001 Ocular Albinism 50
913 c SPN311 Spinocerebellar Ataxia 13 50
914 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 49
915 DFF035 Diffuse Cutaneous Systemic Sclerosis 49
916 ERY004 Erysipelas 49
917 IRR003 Irritant Dermatitis 49
918 IMP004 Impetigo 49
919 EPD006 Epidermolysis Bullosa Acquisita 49
920 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
921 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
922 c SPN106 Spinocerebellar Ataxia 5 49
923 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 48
924 P KRT005 Keratoacanthoma 48
925 ADN001 Adenosine Deaminase Deficiency 47
926 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 47
927 PLM029 Palmoplantar Keratosis 47
928 c SPN105 Spinocerebellar Ataxia 4 47
929 c SPN312 Spinocerebellar Ataxia 14 47
930 c LPD021 Lipodystrophy, Familial Partial, Type 3 47
931 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
932 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
933 ENC010 Encephalocraniocutaneous Lipomatosis 46
934 HNN001 Hennekam Syndrome 46
935 P HMR005 Hemorrhoid 46
936 P WHT013 White Sponge Nevus 1 46
937 SPR005 Superficial Basal Cell Carcinoma 46
938 PGM003 Pigmentation Disease 46
939 c SPN293 Spinocerebellar Ataxia 12 45
940 c LYM145 Lymphatic Malformation 5 45
941 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 45
942 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 45
943 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 45
944 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 45
945 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 45
946 c SPN097 Spinocerebellar Ataxia 23 45
947 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
948 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
949 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 45
950 c SPN314 Spinocerebellar Ataxia 10 45
951 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 45
952 P SBR004 Seborrheic Dermatitis 45
953 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
954 c SPN305 Spinocerebellar Ataxia 11 45
955 c SPN308 Spinocerebellar Ataxia 28 45
956 c ATS393 Autosomal Recessive Cutis Laxa Type I 44
957 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 44
958 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
959 P FBR003 Fibrous Histiocytoma 44
960 FML091 Familial Tumoral Calcinosis 44
961 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
962 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 44
963 GRN007 Granuloma Annulare 44
964 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
965 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 44
966 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
967 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
968 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 43
969 SKN005 Skin Atrophy 43
970 SBC012 Subcorneal Pustular Dermatosis 43
971 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 43
972 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
973 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 43
974 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
975 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
976 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 43
977 OLV004 Oliver-Mcfarlane Syndrome 43
978 ADP001 Adiposis Dolorosa 43
979 ILC002 Ileocolitis 43
980 PMP004 Pemphigus Foliaceus 43
981 DSC009 Discoid Lupus Erythematosus 42
982 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 42
983 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 42
984 c SPN101 Spinocerebellar Ataxia 29 42
985 P GRN010 Granular Cell Tumor 42
986 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 42
987 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
988 c SPN265 Spinocerebellar Ataxia 36 42
989 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 42
990 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 42
991 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
992 SKN023 Skin Tag 42
993 P PHT010 Photoparoxysmal Response 1 42
994 RTT001 Ritter's Disease 41
995 LCH016 Lichen Sclerosus Et Atrophicus 41
996 c SPN100 Spinocerebellar Ataxia 27 41
997 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
998 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 41
999 c PSR018 Psoriasis 13 41
1000 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 41
1001 PRS063 Paresthesia 41
1002 SKN006 Skin Sarcoidosis 41
1003 c SPN304 Spinocerebellar Ataxia 8 41
1004 P BLL007 Bullous Skin Disease 41
1005 ATN014 Autoinflammation with Arthritis and Dyskeratosis 41
1006 c SPN284 Spinocerebellar Ataxia 38 41
1007 PYG006 Pyogenic Granuloma 41
1008 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
1009 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 40
1010 c SPN096 Spinocerebellar Ataxia 21 40
1011 RTC008 Reticulate Acropigmentation of Kitamura 40
1012 c SPN104 Spinocerebellar Ataxia 34 40
1013 c SPN290 Spinocerebellar Ataxia 15 40
1014 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
1015 c PLN018 Peeling Skin Syndrome 2 40
1016 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 40
1017 ICH020 Ichthyosis Prematurity Syndrome 40
1018 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
1019 EPC005 Epicanthus 40
1020 MLN079 Melanoma in Congenital Melanocytic Nevus 39
1021 c SPN266 Spinocerebellar Ataxia 35 39
1022 NDL003 Nodular Nonsuppurative Panniculitis 39
1023 SKN020 Skin Papilloma 39
1024 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39
1025 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
1026 PMP002 Pemphigoid Gestationis 39
1027 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39
1028 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 39
1029 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 39
1030 MLT016 Multicentric Reticulohistiocytosis 39
1031 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
1032 c ADM005 Adams-Oliver Syndrome 1 39
1033 c SPN103 Spinocerebellar Ataxia 31 39
1034 CTN033 Cutaneous Candidiasis 38
1035 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
1036 c ALB024 Albinism, Ocular, Type I 38
1037 NCR002 Necrobiosis Lipoidica 38
1038 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
1039 PRP005 Parapsoriasis 38
1040 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
1041 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 38
1042 RNG003 Ring Dermoid of Cornea 38
1043 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
1044 MYP001 Myoepithelioma 38
1045 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 38
1046 LYM052 Lymphomatoid Papulosis 38
1047 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 38
1048 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
1049 SCL001 Scalp Dermatosis 38
1050 VSC012 Vesiculobullous Skin Disease 38
1051 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 37
1052 ACT167 Acute Generalized Exanthematous Pustulosis 37
1053 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 37
1054 P UVS001 Uv-Sensitive Syndrome 37
1055 PSD016 Pseudosarcomatous Fibromatosis 37
1056 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
1057 PMP010 Pompholyx 37
1058 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 37
1059 CHR463 Chronic Actinic Dermatitis 37
1060 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 37
1061 NRW001 Norwegian Scabies 37
1062 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1063 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 36
1064 TNC001 Tinea Cruris 36
1065 c ALB015 Albinism, Oculocutaneous, Type V 36
1066 c SPN247 Spinocerebellar Ataxia Type 19/22 36
1067 P YWS001 Yaws 36
1068 c SPN283 Spinocerebellar Ataxia 37 36
1069 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1070 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 36
1071 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1072 SPT022 Spitzoid Melanoma 36
1073 ACN003 Acneiform Dermatitis 35
1074 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
1075 MNS001 Mansonelliasis 35
1076 c DRM040 Dermatitis Herpetiformis, Familial 35
1077 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35
1078 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 35
1079 c WRD022 Waardenburg Syndrome, Type 2d 35
1080 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
1081 GRN003 Granulomatous Dermatitis 35
1082 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
1083 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
1084 c XLN229 X-Linked Chondrodysplasia Punctata 2 35
1085 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 35
1086 c SPN419 Spinocerebellar Ataxia 45 35
1087 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1088 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
1089 LSN002 Loose Anagen Hair Syndrome 34
1090 c INT059 Internal Hemorrhoid 34
1091 MLR009 Miliaria 34
1092 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 34
1093 PLN001 Plantar Wart 34
1094 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
1095 PLM137 Palmoplantar Keratoderma and Woolly Hair 34
1096 LCH013 Lichen Planus Pemphigoides 34
1097 c SPN099 Spinocerebellar Ataxia 26 34
1098 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
1099 ANG007 Angiokeratoma Circumscriptum 34
1100 c SPN102 Spinocerebellar Ataxia 30 34
1101 SWT003 Sweat Gland Disease 34
1102 SBC019 Subcutaneous Mycosis 34
1103 c SPN299 Spinocerebellar Ataxia 20 33
1104 c ADM010 Adams-Oliver Syndrome 5 33
1105 P UNC017 Uncombable Hair Syndrome 1 33
1106 DRM003 Dermatosis Papulosa Nigra 33
1107 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1108 c ADM007 Adams-Oliver Syndrome 2 33
1109 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 33
1110 PRL042 Proliferating Trichilemmal Cyst 33
1111 TNF001 Tinea Favosa 33
1112 LMY001 Leiomyoma Cutis 32
1113 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 32
1114 c SPN095 Spinocerebellar Ataxia 19 32
1115 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 32
1116 INV005 Inverted Follicular Keratosis 32
1117 SCL025 Scleromyxedema 32
1118 SLF015 Self-Improving Collodion Baby 32
1119 ALP048 Alopecia Totalis 32
1120 CHN019 Chand Syndrome 32
1121 c SPN383 Spinocerebellar Ataxia 42 32
1122 ALL007 Allergic Urticaria 31
1123 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 31
1124 PHT003 Phototoxic Dermatitis 31
1125 SPN011 Spongiotic Dermatitis 31
1126 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1127 BLP006 Blepharoconjunctivitis 31
1128 c SPN094 Spinocerebellar Ataxia 18 31
1129 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 31
1130 FCL001 Facial Dermatosis 31
1131 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 31
1132 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
1133 P HRD022 Hordeolum 31
1134 c SCN005 Secondary Hypertrophic Osteoarthropathy 31
1135 c ADL027 Adult Dermatomyositis 30
1136 c ALB017 Albinism, Oculocutaneous, Type Vi 30
1137 ERY069 Erythrokeratoderma ''en Cocardes'' 30
1138 c AST055 Asthma-Related Traits 1 30
1139 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 30
1140 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1141 c ICH023 Ichthyosis, Acquired 30
1142 c SBR001 Seborrheic Infantile Dermatitis 30
1143 ELS002 Elastosis Perforans Serpiginosa 30
1144 c ERL004 Early Yaws 30
1145 SLR005 Solar Urticaria 30
1146 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 30
1147 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
1148 P AST056 Asthma-Related Traits 2 30
1149 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 29
1150 P ANG013 Angioma Serpiginosum 29
1151 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 29
1152 c SPN286 Spinocerebellar Ataxia 40 29
1153 STR096 Striate Palmoplantar Keratoderma 29
1154 c WRD026 Waardenburg Syndrome, Type 2c 29
1155 VRR003 Verruciform Xanthoma of Skin 29
1156 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1157 FCL003 Facial Hemiatrophy 29
1158 c SPN098 Spinocerebellar Ataxia 25 29
1159 HYP346 Hypotrichosis and Recurrent Skin Vesicles 28
1160 c AST034 Asthma-Related Traits 4 28
1161 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1162 ECC003 Eccrine Papillary Adenoma 28
1163 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1164 ICH035 Ichthyosis, Hystrix-Like, with Deafness 28
1165 GRN032 Granulomatous Slack Skin Disease 28
1166 CTN027 Cutaneous Mastocytoma 28
1167 PRN017 Perianal Hematoma 28
1168 CNT001 Contagious Pustular Dermatitis 28
1169 c VRL008 Viral Exanthem 28
1170 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
1171 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1172 c PHL010 Peho-Like Syndrome 28
1173 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 28
1174 CTN010 Cutaneous Ganglioneuroma 28
1175 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
1176 c SPN427 Spinocerebellar Ataxia 48 27
1177 ANG014 Angiokeratoma of Fordyce 27
1178 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 27
1179 DRM008 Dermatographia 27
1180 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
1181 BSS001 Basosquamous Carcinoma 27
1182 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 27
1183 FXF002 Fox-Fordyce Disease 27
1184 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
1185 ACR097 Acrodermatitis Chronica Atrophicans 27
1186 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1187 HYP855 Hyperpigmentation of the Skin 27
1188 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27
1189 EXF003 Exfoliative Dermatitis 27
1190 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
1191 LDD006 Ledderhose Disease 27
1192 CND001 Conidiobolomycosis 26
1193 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 26
1194 OCL030 Oculoauriculofrontonasal Syndrome 26
1195 c MLG063 Malignant Dermis Tumor 26
1196 HRF001 Hair Follicle Neoplasm 26
1197 HYP180 Hypertrichosis Lanuginosa Congenita 26
1198 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
1199 ATM016 Autoimmune Disease of Skin and Connective Tissue 26
1200 IGP001 Iga Pemphigus 26
1201 ADS001 Adiaspiromycosis 26
1202 c ADM009 Adams-Oliver Syndrome 4 26
1203 c SPN418 Spinocerebellar Ataxia 44 26
1204 c FML223 Familial Keratoacanthoma 26
1205 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
1206 c SPN420 Spinocerebellar Ataxia 46 26
1207 c SPN421 Spinocerebellar Ataxia 47 25
1208 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 25
1209 TNG001 Tungiasis 25
1210 c ADM012 Adams-Oliver Syndrome 6 25
1211 VRL002 Variola Minor 25
1212 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 25
1213 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25
1214 TNP002 Tinea Profunda 25
1215 c JVN011 Juvenile Dermatitis Herpetiformis 25
1216 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 25
1217 HYP481 Hyperbiliverdinemia 25
1218 HMN008 Hemangioma of Subcutaneous Tissue 25
1219 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1220 c WSK002 Wiskott-Aldrich Syndrome 2 25
1221 RNG030 Ringed Hair 25
1222 c DRM055 Dermatitis, Atopic, 3 25
1223 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1224 c ADM008 Adams-Oliver Syndrome 3 25
1225 ERY010 Erythrasma 25
1226 ACL002 Acalvaria 24
1227 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 24
1228 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24
1229 P KRT014 Keratosis Follicularis Spinulosa Decalvans 24
1230 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1231 P DRM012 Dermis Tumor 24
1232 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
1233 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1234 c DRM060 Dermatitis, Atopic, 8 24
1235 NDL010 Nodular Hidradenoma 24
1236 INT189 Interstitial Granulomatous Dermatitis with Arthritis 24
1237 c LTB003 Ltbp4-Related Cutis Laxa 24
1238 TNB001 Tinea Barbae 24
1239 HYP181 Hypertrichosis Lanuginosa, Acquired 24
1240 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
1241 CLL039 Collagenosis, Familial Reactive Perforating 24
1242 GRD004 Gardner-Diamond Syndrome 24
1243 LCH008 Lichen Planus Pigmentosus 24
1244 c ALP039 Alopecia Areata 1 24
1245 PNS002 Penis Carcinoma in Situ 24
1246 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1247 GNT018 Gianotti Crosti Syndrome 23
1248 c SPN372 Spinocerebellar Ataxia 43 23
1249 c ALP099 Alopecia, Congenital 23
1250 c SPN323 Spinocerebellar Ataxia 41 23
1251 CRM002 Ceruminoma 23
1252 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 23
1253 c ACN016 Acne Inversa, Familial, 3 23
1254 ERS002 Erosive Pustular Dermatosis of the Scalp 23
1255 CLC064 Calcifying Aponeurotic Fibroma 23
1256 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1257 c MLG167 Malignant Inflammatory Fibrous Histiocytoma 23
1258 c DRM057 Dermatitis, Atopic, 5 23
1259 c EFM001 Efemp2-Related Cutis Laxa 23
1260 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 23
1261 FBR015 Fibroepithelial Basal Cell Carcinoma 23
1262 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 23
1263 c MYF010 Myofibromatosis, Infantile, 2 22
1264 c CNG022 Congenital Granular Cell Tumor 22
1265 c WHT015 White Sponge Nevus 2 22
1266 ACH007 Achenbach Syndrome 22
1267 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 22
1268 PSD043 Pseudopelade of Brocq 22
1269 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1270 SKN004 Skin Amelanotic Melanoma 22
1271 ACQ008 Acquired Hyperkeratosis 22
1272 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 22
1273 BSD001 Basidiobolomycosis 22
1274 HND001 Hand Dermatosis 22
1275 QST001 Question Mark Ears, Isolated 22
1276 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1277 c DYS039 Dyskeratosis Congenita Autosomal Dominant 21
1278 PHK008 Phakomatosis Cesioflammea 21
1279 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
1280 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 21
1281 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 21
1282 PPL017 Papillary Hidradenoma 21
1283 ECC005 Eccrine Adenocarcinoma 21
1284 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
1285 BLL015 Bullous Lichen Planus 21
1286 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 21
1287 TLN007 Telangiectasia, Hereditary Benign 21
1288 CTN005 Cutaneous Diphtheria 21
1289 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
1290 ACK001 Ackerman Syndrome 21
1291 PTY005 Pityriasis Lichenoides Chronica 21
1292 IND009 Indeterminate Cell Histiocytosis 20
1293 CLL041 Collagenoma, Familial Cutaneous 20
1294 LPS019 Lupus Erythematosus Tumidus 20
1295 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 20
1296 c DRM056 Dermatitis, Atopic, 4 20
1297 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 20
1298 FLL020 Follicular Infundibulum Tumor 20
1299 GRW032 Growth Factors, Combined Defect of 20
1300 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 19
1301 c LTY001 Late Yaws 19
1302 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
1303 LNR010 Linear Lichen Planus 19
1304 PLD002 Pilodental Dysplasia with Refractive Errors 19
1305 c DRM059 Dermatitis, Atopic, 7 19
1306 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1307 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
1308 c FBL003 Fbln5-Related Cutis Laxa 19
1309 c SPN259 Spinocerebellar Ataxia 32 19
1310 c DRM058 Dermatitis, Atopic, 6 18
1311 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18
1312 SCL051 Scalp Defects and Postaxial Polydactyly 18
1313 ELS004 Elastofibroma Dorsi 18
1314 RDR002 Rodrigues Blindness 18
1315 CTN031 Cutaneous Pseudolymphoma 18
1316 c ECT114 Ectodermal Dysplasia 10b 18
1317 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
1318 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 18
1319 c UNC019 Uncombable Hair Syndrome 2 18
1320 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 18
1321 ELS005 Elastoma 18
1322 TRC052 Trichofolliculoma 18
1323 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 18
1324 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1325 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 18
1326 P PRM145 Primary Anetoderma 17
1327 PKL003 Poikiloderma, Hereditary Sclerosing 17
1328 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
1329 c DRM061 Dermatitis, Atopic, 9 17
1330 DRM019 Dermatoleukodystrophy 17
1331 c ATM109 Autoimmune Bullous Skin Disease 17
1332 TRG017 Trigeminal Trophic Syndrome 17
1333 SPR072 Superficial Pemphigus 17
1334 c ALP040 Alopecia Areata 2 17
1335 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 17
1336 ELS003 Elastoderma 17
1337 GST056 Gastrocutaneous Syndrome 17
1338 ECT111 Ectodermal Dysplasia 15, Hypohidrotic/hair Type 17
1339 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 17
1340 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 17
1341 ANT063 Anti-P200 Pemphigoid 17
1342 ERY005 Erythematosquamous Dermatosis 17
1343 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 16
1344 c FML348 Familial Pityriasis Rubra Pilaris 16
1345 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1346 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 16
1347 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1348 CLS055 Classic Pyoderma Gangrenosum 16
1349 AQG004 Aquagenic Syringeal Acrokeratoderma 16
1350 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1351 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
1352 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 16
1353 c UNC018 Uncombable Hair Syndrome 3 16
1354 c AST057 Asthma-Related Traits 5 15
1355 ODN008 Odontomicronychial Dysplasia 15
1356 c PLN016 Peeling Skin Syndrome Type a 15
1357 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
1358 SPR145 Superficial Fibromatosis 15
1359 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 15
1360 c AST032 Asthma-Related Traits 7 15
1361 ERY049 Erythroderma, Lethal Congenital 15
1362 c SPN107 Spinocerebellar Ataxia 9 15
1363 CNG248 Congenital Smooth Muscle Hamartoma 15
1364 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1365 LGD001 Leg Dermatosis 15
1366 CNG265 Congenital Erosive and Vesicular Dermatosis 15
1367 PHK006 Phakomatosis Pigmentokeratotica 14
1368 HLL006 Halal Setton Wang Syndrome 14
1369 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 14
1370 ANN013 Annular Atrophic Lichen Planus 14
1371 c PHT011 Photoparoxysmal Response 3 14
1372 c PHT009 Photoparoxysmal Response 2 14
1373 ACR120 Acrokeratoderma 14
1374 LNR012 Linear Verrucous Nevus Syndrome 14
1375 GNR027 Generalized Peeling Skin Syndrome 14
1376 PPL044 Papular Elastorrhexis 14
1377 c ACQ026 Acquired Pseudoxanthoma Elasticum 13
1378 SCR014 Scrotum Basal Cell Carcinoma 13
1379 ONY004 Onychocytic Matricoma 13
1380 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 13
1381 P NNP004 Nonphotosensitive Trichothiodystrophy 13
1382 EPD090 Epidermal Disease 13
1383 SCL044 Scalp Syndrome 13
1384 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 13
1385 HYP742 Hyperpigmentation of Eyelids 13
1386 CHL021 Cholesteatoma of External Ear 13
1387 PLG007 Pili Gemini 13
1388 BLL014 Bullous Diffuse Cutaneous Mastocytosis 12
1389 c LCH017 Lichen Planus, Familial 12
1390 PRM233 Primary Cutaneous Plasmacytosis 12
1391 VGT002 Vegetative Pyoderma Gangrenosum 12
1392 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 12
1393 c AST035 Asthma-Related Traits 6 12
1394 c RRL001 Rare Lichen Planus 12
1395 c AST033 Asthma-Related Traits 3 11
1396 ACR080 Acral Persistent Papular Mucinosis 11
1397 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 11
1398 CTN008 Cutaneous Liposarcoma 11
1399 GNN001 Genuine Diffuse Phlebectasia 11
1400 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 10
1401 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1402 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
1403 WHT012 White Fibrous Papulosis of the Neck 10
1404 FBR006 Fibroepithelial Polyp of the Anus 9
1405 c AST036 Asthma-Related Traits 8 9
1406 TRB003 Trueb Burg Bottani Syndrome 9
1407 VLV014 Vulva Fibroepithelial Polyp 9
1408 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8
1409 MLG109 Malignant Melanoma of the Mucosa 8
1410 ANG056 Angora Hair Nevus 8
1411 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1412 c BSL047 Basal Epidermolysis Bullosa Simplex 8
1413 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 8
1414 HRD213 Hereditary Poikiloderma 8
1415 RRN013 Rare Nail Tumor 8
1416 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 8
1417 FLL021 Follicular Basal Cell Carcinoma 7
1418 HYP046 Hypopigmentation of Eyelid 7
1419 PRP010 Prepuce Cancer 7
1420 SKN007 Skin Meningioma 7
1421 BLN022 Blue Nevi, Familial Multiple 6
1422 PHK009 Phakomatosis Cesiomarmorata 6
1423 VRR002 Verrucous Keratotic Hemangioma 6
1424 MYC091 Mycosis Fungoides and Variants 6
1425 P DSS028 Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 6
1426 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1427 RRN012 Rare Nevus 6
1428 P DSR041 Disorder of Multiple Glycosylation 6
1429 CNF001 Confetti-Like Macular Atrophy 6
1430 PHK010 Phakomatosis Spilorosea 6
1431 c ATM107 Autoimmune Disease with Skin Involvement 5
1432 INH027 Inherited Ichthyosis Syndromic Form 5
1433 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
1434 EYL004 Eyelid Degenerative Disease 5
1435 CNG581 Congenital Disorder of Glycosylation with Skin Involvement 5
1436 c ATS466 Autosomal Recessive Isolated Diffuse Palmoplantar Keratoderma 5
1437 c ATS467 Autosomal Recessive Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1438 HYP045 Hypertrichosis of Eyelid 5
1439 HYP044 Hypotrichosis of Eyelid 5
1440 DSC002 Discoid Lupus Erythematosus of Eyelid 5
1441 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
1442 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
1443 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
1444 P SYS073 Systemic Disease with Skin Involvement 4
1445 DSS030 Disease with Punctate Palmoplantar Keratoderma As a Major Feature 4
1446 c ATS446 Autosomal Recessive Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1447 P ATS447 Autosomal Dominant Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
1448 EPD089 Epidermal Appendage Anomaly 4
1449 ACQ062 Acquired Dermis Elastic Tissue Disorder with Increased Elastic Tissue 4
1450 ACQ032 Acquired Kinky Hair Syndrome 4
1451 SYN138 Syndromic Hair Shaft Abnormality 4
1452 MXD049 Mixed Dermis Disorder 4
1453 ATN019 Autoinflammatory Syndrome with Skin Involvement 3
1454 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 3
1455 INH028 Inherited Non-Syndromic Ichthyosis 3
1456 ATS443 Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities 3
1457 ISL150 Isolated Hair Shaft Abnormality 3
1458 HND002 Hand, Foot and Mouth Disease 51
1459 VCC001 Vaccinia 49
1460 CWP001 Cowpox 46
1461 ERY001 Erysipeloid 37
1462 MLK001 Milker's Nodule 33
1463 EXN001 Exanthema Subitum 32
1464 CMM003 Common Wart 32
1465 HRP005 Herpetic Whitlow 28
1466 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
1467 c CND034 Candidiasis, Familial, 2 36
1468 LNG039 Lung Squamous Cell Carcinoma 66
1469 VRC005 Varicose Veins 60
1470 IMM080 Immunodeficiency 23 40
1471 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1472 DNT019 Daentl Towsend Siegel Syndrome 12
1473 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6
1474 ADN011 Adenoid Cystic Carcinoma 70
1475 PRX015 Paroxysmal Extreme Pain Disorder 58
1476 P TRC102 Trichothiodystrophy 1, Photosensitive 55
1477 RPD002 Rapadilino Syndrome 48
1478 LRY018 Laryngeal Squamous Cell Carcinoma 44
1479 CLN009 Colon Squamous Cell Carcinoma 34
1480 BLD047 Bladder Squamous Cell Carcinoma 31
1481 c TRC100 Trichothiodystrophy 3, Photosensitive 28
1482 RNL009 Renal Pelvis Squamous Cell Carcinoma 24
1483 MDD007 Middle Ear Squamous Cell Carcinoma 23
1484 c TRC099 Trichothiodystrophy 2, Photosensitive 21
1485 EXT016 External Ear Squamous Cell Carcinoma 9
1486 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
1487 c SYS001 Systemic Lupus Erythematosus 86
1488 c NRF023 Neurofibromatosis, Type Ii 80
1489 c NRF024 Neurofibromatosis, Type I 77
1490 P RTH006 Rothmund-Thomson Syndrome, Type 2 69
1491 SVR097 Severe Cutaneous Adverse Reaction 69
1492 CHL065 Cholangiocarcinoma 68
1493 c BSL007 Basal Cell Carcinoma 68
1494 ALL003 Allergic Rhinitis 67
1495 P CHR012 Chronic Granulomatous Disease 67
1496 P TRN020 Turner Syndrome 67
1497 P SKN015 Skin Carcinoma 66
1498 ART001 Arterial Tortuosity Syndrome 66
1499 P CCK001 Cockayne Syndrome 66
1500 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65
1501 MNK001 Menkes Disease 64
1502 P HRM001 Hermansky-Pudlak Syndrome 64
1503 GT001 Gout 64
1504 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 64
1505 KND001 Kindler Syndrome 64
1506 INC021 Incontinentia Pigmenti 63
1507 P DST002 Distal Arthrogryposis 63
1508 c LCL006 Localized Scleroderma 62
1509 NNN026 Noonan Syndrome with Multiple Lentigines 62
1510 PSR001 Psoriatic Arthritis 61
1511 c SCL052 Scleroderma, Familial Progressive 61
1512 c ART144 Arthrogryposis, Distal, Type 1a 61
1513 P LPS004 Lupus Erythematosus 61
1514 DPH001 Diphtheria 60
1515 DRR014 Darier-White Disease 60
1516 P PRD006 Prader-Willi Syndrome 59
1517 BRN002 Bronchiolitis 59
1518 P CND004 Candidiasis 58
1519 c ART061 Arthrogryposis, Distal, Type 2a 57
1520 PLM102 Palmoplantar Keratoderma, Epidermolytic 56
1521 ALL010 Allergic Contact Dermatitis 56
1522 EPD002 Epidermolytic Hyperkeratosis 56
1523 P NRF002 Neurofibromatosis 56
1524 OCL020 Ocular Cicatricial Pemphigoid 55
1525 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 55
1526 SCH038 Schopf-Schulz-Passarge Syndrome 55
1527 c ART119 Arthrogryposis, Distal, Type 5 55
1528 P NLD001 Nail Disease 54
1529 VCS001 Vici Syndrome 54
1530 RCS002 Recessive Dystrophic Epidermolysis Bullosa 54
1531 MMM001 Mammary Paget's Disease 53
1532 P EPD016 Epidermolysis Bullosa 53
1533 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 53
1534 ICH054 Ichthyosis, X-Linked 53
1535 ENC055 Encephalopathy, Ethylmalonic 53
1536 ERD001 Erdheim-Chester Disease 53
1537 P ACT008 Actinic Keratosis 53
1538 c WRD033 Waardenburg Syndrome, Type 2e 53
1539 OCL039 Oculoectodermal Syndrome 53
1540 P SML001 Small Cell Carcinoma 52
1541 P CNG436 Congenital Disorder of Deglycosylation 52
1542 LYM029 Lymphedema-Distichiasis Syndrome 52
1543 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 51
1544 c HRM005 Hermansky-Pudlak Syndrome 1 51
1545 WYR002 Weyers Acrofacial Dysostosis 51
1546 c ART120 Arthrogryposis, Distal, Type 3 51
1547 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
1548 SKN013 Skin Benign Neoplasm 51
1549 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 51
1550 c ART155 Arthrogryposis, Distal, Type 2b1 50
1551 c LRG001 Large Cell Carcinoma 50
1552 c PSR021 Psoriasis 14, Pustular 50
1553 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 49
1554 SPT005 Spotted Fever 49
1555 MLT145 Multiple Enchondromatosis, Maffucci Type 49
1556 WDM005 Wiedemann-Rautenstrauch Syndrome 49
1557 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
1558 FRN020 Frontal Fibrosing Alopecia 49
1559 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 49
1560 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 48
1561 DRG013 Drug-Induced Lupus Erythematosus 48
1562 HLC001 Holocarboxylase Synthetase Deficiency 48
1563 SND002 Sneddon Syndrome 48
1564 P MRC003 Mercury Poisoning 48
1565 CHR031 Chromoblastomycosis 47
1566 WRS002 Warsaw Breakage Syndrome 47
1567 c HRM008 Hermansky-Pudlak Syndrome 5 47
1568 MLT152 Multiple Self-Healing Squamous Epithelioma 47
1569 PGT003 Paget Disease, Extramammary 47
1570 ALB002 Albinism 46
1571 P FML361 Familial Woolly Hair Syndrome 46
1572 TNP001 Tinea Pedis 46
1573 KRT013 Keratolytic Winter Erythema 46
1574 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 46
1575 c HRM007 Hermansky-Pudlak Syndrome 4 46
1576 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
1577 c HRM009 Hermansky-Pudlak Syndrome 6 45
1578 c WRD031 Waardenburg Syndrome, Type 3 45
1579 c LPD019 Lipodystrophy, Partial, Acquired 45
1580 CSL001 Causalgia 45
1581 c ART147 Arthrogryposis, Distal, Type 7 45
1582 BZX001 Bazex Syndrome 45
1583 c HRM006 Hermansky-Pudlak Syndrome 3 45
1584 c JVN003 Juvenile Xanthogranuloma 44
1585 c DRM054 Dermatitis, Atopic, 2 44
1586 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 44
1587 TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 44
1588 SYR002 Syringocystadenoma Papilliferum 44
1589 PKL001 Poikiloderma with Neutropenia 44
1590 FNT005 Fontaine Progeroid Syndrome 44
1591 c HRM012 Hermansky-Pudlak Syndrome 9 43
1592 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 43
1593 ICH002 Ichthyosis Bullosa of Siemens 43
1594 BSL006 Basaloid Squamous Cell Carcinoma 43
1595 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
1596 NDL009 Nodular Basal Cell Carcinoma 43
1597 ANC001 Ancylostomiasis 43
1598 P PLN008 Peeling Skin Syndrome 43
1599 P PRP034 Purpura Fulminans 43
1600 SBC011 Sebaceous Adenocarcinoma 42
1601 P DWL001 Dowling-Degos Disease 42
1602 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 42
1603 P ECT005 Ectropion 42
1604 LPM010 Lipomatosis, Multiple Symmetric 42
1605 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 42
1606 GCH018 Gaucher Disease, Perinatal Lethal 41
1607 c ART104 Arthrogryposis, Distal, Type 5d 41
1608 HPR006 Heparin Cofactor Ii Deficiency 40
1609 CHN002 Chancroid 40
1610 SBC017 Sebaceous Gland Disease 40
1611 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 40
1612 EYL005 Eyelid Disease 40
1613 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 40
1614 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40
1615 TNC003 Tinea Corporis 39
1616 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
1617 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 39
1618 NVS015 Nevus Comedonicus 39
1619 CLR015 Clear Cell Basal Cell Carcinoma 39
1620 BLL012 Bullous Impetigo 39
1621 c PLN017 Peeling Skin Syndrome 1 38
1622 ANG016 Angiokeratoma 38
1623 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 38
1624 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38
1625 CHL073 Cholestasis-Lymphedema Syndrome 38
1626 c SYS043 Systemic Lupus Erythematosus 1 38
1627 ACR004 Acrokeratosis Verruciformis 38
1628 ACR005 Acrodermatitis 38
1629 MCP033 Mucopolysaccharidoses 38
1630 c HRM010 Hermansky-Pudlak Syndrome 7 37
1631 TNM001 Tinea Imbricata 37
1632 NNL001 Non-Langerhans-Cell Histiocytosis 37
1633 CTN013 Cutaneous Anthrax 37
1634 c RTH007 Rothmund-Thomson Syndrome, Type 1 37
1635 WNC001 Winchester Syndrome 36
1636 PRR013 Prurigo Nodularis 36
1637 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 36
1638 DRM009 Dermatomycosis 36
1639 ECC002 Eccrine Acrospiroma 36
1640 c SYS061 Systemic Lupus Erythematosus 16 36
1641 TRM011 Terminal Osseous Dysplasia 36
1642 LVD003 Livedoid Vasculitis 36
1643 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 35
1644 c HRM011 Hermansky-Pudlak Syndrome 8 35
1645 SBC009 Sebaceous Adenoma 35
1646 MBM001 Meibomian Cyst 35
1647 c ART060 Arthrogryposis, Distal, Type 1b 35
1648 TTH004 Tethered Spinal Cord Syndrome 35
1649 PRP093 Pierpont Syndrome 35
1650 NRD001 Neurodermatitis 35
1651 XNT009 Xanthoma Disseminatum 34
1652 CTS011 Cutis Marmorata Telangiectatica Congenita 34
1653 HNS001 Hansen's Disease 34
1654 P SPR013 Spiradenoma 34
1655 c ART112 Arthrogryposis, Distal, Type 10 34
1656 INF057 Inflammatory Linear Verrucous Epidermal Nevus 34
1657 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 34
1658 P INH011 Inherited Bone Marrow Failure Syndromes 34
1659 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 33
1660 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
1661 BCK005 Becker Nevus Syndrome 33
1662 MLG007 Malignant Skin Fibrous Histiocytoma 33
1663 MTT001 Metatypical Basal Cell Carcinoma 33
1664 ORL022 Oral Erosive Lichen 33
1665 PRG023 Progeroid Short Stature with Pigmented Nevi 33
1666 PRM206 Premature Aging Syndrome, Penttinen Type 33
1667 VRS002 Virus-Associated Trichodysplasia Spinulosa 32
1668 SWT008 Sweat Gland Benign Neoplasm 32
1669 GTT002 Guttate Psoriasis 32
1670 SCL017 Sclerosing Hemangioma 32
1671 c WLL018 Woolly Hair, Autosomal Dominant 32
1672 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 32
1673 PGM002 Pigmented Basal Cell Carcinoma 32
1674 MLR023 Melorheostosis, Isolated 32
1675 P EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 32
1676 NRT002 Neurotic Excoriation 31
1677 DFF038 Diffuse Palmoplantar Keratoderma 31
1678 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 31
1679 HDR001 Hidrocystoma 31
1680 CLR007 Colorado Tick Fever 31
1681 DRF001 Dirofilariasis 31
1682 PRT094 Protoporphyria, Erythropoietic, X-Linked 31
1683 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
1684 c VHW003 Vohwinkel Syndrome, Variant Form 31
1685 LBM003 Lobomycosis 31
1686 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 31
1687 c ART131 Arthrogryposis, Distal, Type 4 30
1688 FML286 Familial Isolated Trichomegaly 30
1689 c INH031 Inherited Epidermolysis Bullosa 30
1690 SLT013 Salt and Pepper Syndrome 30
1691 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 30
1692 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 30
1693 GRV012 Grover's Disease 30
1694 c CND033 Candidiasis, Familial, 1 30
1695 BSN001 Basan Syndrome 30
1696 APC005 Apocrine Sweat Gland Neoplasm 29
1697 UND007 Undifferentiated Connective Tissue Disease 29
1698 c ART128 Arthrogryposis, Distal, Type 6 29
1699 OCC001 Occupational Dermatitis 29
1700 INF027 Infiltrative Basal Cell Carcinoma 29
1701 c CND037 Candidiasis, Familial, 6 29
1702 MRL006 Meralgia Paraesthetica, Familial 29
1703 P ADL037 Adult Xanthogranuloma 29
1704 FLL042 Folliculotropic Mycosis Fungoides 29
1705 CTN012 Cutaneous Leiomyosarcoma 29
1706 c BNM010 Bone Marrow Failure Syndrome 1 29
1707 P FML313 Familial Progressive Hyperpigmentation 28
1708 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 28
1709 EYL002 Eyelid Carcinoma 28
1710 NBL001 Nablus Mask-Like Facial Syndrome 28
1711 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 28
1712 HRD216 Hereditary Palmoplantar Keratoderma 28
1713 ATR054 Atrophoderma Vermiculata 28
1714 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 28
1715 SKN002 Skin Lipoma 27
1716 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 27
1717 ERY014 Erythrokeratoderma 27
1718 OMS001 Omsk Hemorrhagic Fever 27
1719 MDD015 Mid-Dermal Elastolysis 27
1720 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 27
1721 c BNM013 Bone Marrow Failure Syndrome 3 27
1722 PGM030 Pigmentation Anomaly of the Skin 26
1723 ACR034 Acrogeria, Gottron Type 26
1724 FCL029 Focal Palmoplantar Keratoderma 26
1725 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 26
1726 c SYS038 Systemic Lupus Erythematosus 2 26
1727 P ACN018 Acne Inversa, Familial, 1 26
1728 TNM002 Tinea Manuum 26
1729 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 26
1730 c BSL034 Basal Cell Carcinoma 7 26
1731 SKN001 Skin Angiosarcoma 25
1732 c FCL046 Focal Facial Dermal Dysplasia 4 25
1733 BLL002 Balloon Cell Malignant Melanoma 25
1734 c CND025 Candidiasis, Familial, 8 25
1735 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 25
1736 DRM043 Dermochondrocorneal Dystrophy 25
1737 c ART157 Arthrogryposis, Distal, Type 2b3 25
1738 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 25
1739 c CND036 Candidiasis, Familial, 4 25
1740 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 25
1741 RDT005 Radiation Induced Cancer 25
1742 CHL075 Cheilitis Glandularis 25
1743 ALL002 Allergic Cutaneous Vasculitis 25
1744 c BSL011 Basal Cell Carcinoma, Multiple 25
1745 c HRM020 Hermansky-Pudlak Syndrome 10 25
1746 P FCL023 Focal Facial Dermal Dysplasia 25
1747 c SKN012 Skin Carcinoma in Situ 25
1748 c BNM032 Bone Marrow Failure Syndrome 4 24
1749 c ART156 Arthrogryposis, Distal, Type 2b2 24
1750 MRP002 Morpheaform Basal Cell Carcinoma 24
1751 MLG032 Malignant Granular Cell Myoblastoma 24
1752 P PNC113 Punctate Palmoplantar Keratoderma 24
1753 EPD052 Epidermolysis Bullosa Simplex Superficialis 24
1754 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
1755 MRN005 Marie Unna Congenital Hypotrichosis 24
1756 CTN025 Cutaneous Collagenous Vasculopathy 23
1757 XLN086 X-Linked Ehlers-Danlos Syndrome 23
1758 HRL002 Harlequin Syndrome 23
1759 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 23
1760 c BNM011 Bone Marrow Failure Syndrome 2 23
1761 IMM194 Immunodeficiency 59 and Hypoglycemia 23
1762 NVD003 Nevoid Hypermelanosis, Linear and Whorled 23
1763 CRM013 Ceruminous Adenocarcinoma 23
1764 SKN010 Skin Epithelioid Hemangioma 23
1765 c CND031 Candidiasis, Familial, 9 23
1766 LNR005 Linear Scleroderma 22
1767 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 22
1768 SNL003 Senile Angioma 22
1769 SDD011 Siddiqi Syndrome 22
1770 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 22
1771 EYL006 Eyelid Benign Neoplasm 22
1772 P ALP068 Alopecia-Intellectual Disability Syndrome 22
1773 MTH082 Methemoglobinemia and Ambiguous Genitalia 22
1774 CHN040 Choanal Atresia and Lymphedema 22
1775 c BNM033 Bone Marrow Failure Syndrome 5 22
1776 c SYS069 Systemic Lupus Erythematosus 6 21
1777 c SYS046 Systemic Lupus Erythematosus 3 21
1778 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1779 c PSD047 Pseudo-Turner Syndrome 21
1780 LNT008 Lentiginosis, Inherited Patterned 21
1781 13Q001 13q12.3 Microdeletion Syndrome 21
1782 SYN120 Syndromic Oculocutaneous Albinism 21
1783 c SYS040 Systemic Lupus Erythematosus 10 21
1784 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 21
1785 ADM002 Adamantinoid Basal Cell Epithelioma 20
1786 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 20
1787 EPD082 Epidermolytic Nevus 20
1788 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1789 TLN013 Telangiectasia Macularis Eruptive Perstans 20
1790 PBL004 Piebald Trait with Neurologic Defects 20
1791 HYP854 Hypopigmentation of the Skin 20
1792 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
1793 c SYS051 Systemic Lupus Erythematosus 4 20
1794 c SYS041 Systemic Lupus Erythematosus 9 19
1795 ECC006 Eccrine Mixed Tumor of Skin 19
1796 FRN028 Furunculous Myiasis 19
1797 c WLL035 Woolly Hair, Autosomal Recessive 3 19
1798 LTN013 Late-Onset Focal Dermal Elastosis 19
1799 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
1800 AGG003 Aggressive Digital Papillary Adenocarcinoma 19
1801 c SYS053 Systemic Lupus Erythematosus 5 19
1802 HST018 Histiocytosis, Progressive Mucinous 19
1803 CLL040 Callosities, Hereditary Painful 18
1804 ACT160 Actinic Lichen Planus 18
1805 HYP182 Hypertrichosis, Anterior Cervical 18
1806 STT008 Steatocystoma Multiplex with Natal Teeth 18
1807 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1808 ANL013 Anal Margin Basal Cell Carcinoma 18
1809 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 18
1810 PRM314 Primary Cutaneous Lymphoma 18
1811 ANG063 Angiolipomatosis, Familial 18
1812 PPL038 Papular Xanthoma 18
1813 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18
1814 c CND027 Candidiasis, Familial, 3 17
1815 c SYS065 Systemic Lupus Erythematosus 11 17
1816 c ACQ039 Acquired Purpura Fulminans 17
1817 DSC014 Discoid Fibromas, Familial Multiple 17
1818 EPD010 Epidermal Appendage Tumor 17
1819 INF127 Infective Dermatitis Associated with Htlv-1 17
1820 c SYS048 Systemic Lupus Erythematosus 8 17
1821 BKS002 Book Syndrome 17
1822 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1823 PRN056 Parana Hard-Skin Syndrome 17
1824 CRN075 Crandall Syndrome 16
1825 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
1826 c SYS052 Systemic Lupus Erythematosus 13 16
1827 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16
1828 c BSL027 Basal Cell Carcinoma 4 16
1829 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 16
1830 ATR097 Atrophoderma of Pasini and Pierini 16
1831 c SYS055 Systemic Lupus Erythematosus 12 16
1832 c CNG596 Congenital Ectropion 16
1833 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 16
1834 LNR009 Linear Atrophoderma of Moulin 16
1835 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 16
1836 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1837 BLL018 Bullous Pyoderma Gangrenosum 16
1838 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 15
1839 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
1840 ORL024 Oral and Digital Anomalies with Ichthyosis 15
1841 FCL040 Focal Acral Hyperkeratosis 15
1842 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1843 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 15
1844 SBC013 Sebaceous Basal Cell Carcinoma 15
1845 FLT007 Flotch Syndrome 15
1846 HMT019 Hematohidrosis 15
1847 TRC111 Trichodysplasia-Xeroderma 14
1848 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 14
1849 c SYS047 Systemic Lupus Erythematosus 7 14
1850 MCD003 Mcdowall Syndrome 14
1851 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 14
1852 c ART054 Arthrogryposis, Distal, Type 2e 14
1853 c BSL025 Basal Cell Carcinoma 2 14
1854 c BNM034 Bone Marrow Failure Syndrome 6 14
1855 c BSL029 Basal Cell Carcinoma 6 13
1856 LNR017 Linear Focal Elastosis 13
1857 c BSL028 Basal Cell Carcinoma 5 13
1858 ANN015 Anonychia with Flexural Pigmentation 13
1859 GNT041 Genetic Lipodystrophy 13
1860 c BSL026 Basal Cell Carcinoma 3 13
1861 c SYS045 Systemic Lupus Erythematosus 14 13
1862 ISL136 Isolated Punctate Palmoplantar Keratoderma 13
1863 CHN047 Chondroectodermal Dysplasia with Night Blindness 13
1864 c SYS067 Systemic Lupus Erythematosus 15 12
1865 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 12
1866 RRP024 Rare Photodermatosis 12
1867 c INF119 Infantile Mercury Poisoning 12
1868 ALP049 Alopecia Antibody Deficiency 11
1869 SBC040 Subcutaneous Tissue Disease 11
1870 HRD017 Hordeolum Externum 11
1871 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
1872 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
1873 ODN004 Odonto Onycho Dysplasia with Alopecia 11
1874 PST107 Pustular Pyoderma Gangrenosum 11
1875 c KRT070 Keratosis, Familial Actinic 10
1876 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 10
1877 LBM004 Labium Majus Cancer 10
1878 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 10
1879 ACR075 Acral Dystrophic Epidermolysis Bullosa 9
1880 c ALP081 Alopecia Intellectual Disability Syndrome 2 9
1881 DRM002 Dermoid Cyst of Skin 9
1882 TLN001 Telangiectatic Glomangioma 9
1883 c SCN085 Secondary Ectropion 9
1884 ACN008 Acantholytic Squamous Cell Skin Carcinoma 9
1885 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
1886 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1887 SKN008 Skin Glomus Tumor 8
1888 P ISL140 Isolated Diffuse Palmoplantar Keratoderma 8
1889 c PLN027 Peeling Skin Syndrome Type C 7
1890 PRS018 Parasitic Eyelid Infestation 7
1891 c MLG050 Malignant Granular Cell Skin Tumor 7
1892 BNG008 Benign Dermal Neurilemmoma 7
1893 ECS003 Eec Syndrome and Related Disorders 6
1894 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
1895 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
1896 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 6
1897 SQM001 Squamous Cell Papilloma of Skin 6
1898 RRC009 Rare Cutaneous Lichen Planus 6
1899 PRT089 Partial Deep Dermal and Full Thickness Burns 6
1900 RRM007 Rare Mucosal Lichen Planus 6
1901 ISL141 Isolated Focal Palmoplantar Keratoderma 6
1902 PLN004 Plantar Verrucous Skin Carcinoma 5
1903 NVD002 Nevada Syndrome 5
1904 P DSS029 Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1905 MRG017 Marginal Papular Palmoplantar Keratoderma 5
1906 CHN007 Chondroid Syringoma of the Vulva 5
1907 ECZ001 Eczematous Dermatitis of Eyelid 5
1908 XRD002 Xeroderma of Eyelid 5
1909 TYP022 Typical Urticaria Pigmentosa 5
1910 SPR146 Suprabasal Epidermolysis Bullosa Simplex 5
1911 TXC023 Toxic Dermatosis 5
1912 c ATS444 Autosomal Recessive Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1913 ATS445 Autosomal Dominant Diffuse Mutilating Palmoplantar Keratoderma 5
1914 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1915 c ATS464 Autosomal Dominant Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1916 ATS465 Autosomal Dominant Disease Associated with Focal Palmoplantar Keratoderma As a Major Feature 5
1917 c ATS468 Autosomal Dominant Isolated Diffuse Palmoplantar Keratoderma 5
1918 MTB014 Metabolic Disease with Skin Involvement 4
1919 IMM214 Immune Deficiency with Skin Involvement 4
1920 c RRD045 Rare Disorder with Ectropion 4
1921 MCP053 Mucopolysaccharidosis with Skin Involvement 4
1922 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 4
1923 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 4
1924 RRS013 Rare Skin Tumor or Hamartoma 4
1925 OTH020 Other Acquired Skin Disease 3
1926 UNC024 Unclassified Genetic Skin Disorder 3
1927 OTH023 Other Epidermal Disorder 3
1928 PNC131 Punctate Acrokeratoderma Freckle-Like Pigmentation 3
1929 P RBL001 Rubella 59
1930 ANT024 Anthrax Disease 58
1931 MLL001 Molluscum Contagiosum 50
1932 c CNG124 Congenital Rubella 45
1933 SPR020 Superficial Mycosis 35
1934 GRN005 Granuloma Inguinale 31
1935 P LYN001 Lynch Syndrome 77
1936 c TBR025 Tuberous Sclerosis 1 77
1937 c TBR026 Tuberous Sclerosis 2 72
1938 P TBR001 Tuberous Sclerosis 70
1939 HYP780 Hypoadrenocorticism, Familial 63
1940 c LYN004 Lynch Syndrome I 60
1941 c HMC039 Hemochromatosis, Type 1 74
1942 P HYP724 Hyperlipoproteinemia, Type Iii 73
1943 c MCP050 Mucopolysaccharidosis, Type Ii 72
1944 c HPT073 Hepatitis C Virus 72
1945 P FML011 Familial Adenomatous Polyposis 72
1946 BHC003 Behcet Syndrome 71
1947 P TTR001 Tetralogy of Fallot 70
1948 P MCP040 Mucopolysaccharidosis-Plus Syndrome 69
1949 SKN019 Skin Melanoma 68
1950 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1951 c MCP052 Mucopolysaccharidosis, Type Vi 67
1952 c HYP768 Hyperlipoproteinemia, Type I 67
1953 P HPT021 Hepatitis 67
1954 BLM001 Bloom Syndrome 67
1955 P PRP003 Porphyria Cutanea Tarda 67
1956 c TYR012 Tyrosinemia, Type I 66
1957 GRG001 Greig Cephalopolysyndactyly Syndrome 66
1958 c FML346 Familial Adenomatous Polyposis 1 66
1959 P DRM053 Dermatitis, Atopic 66
1960 MVL001 Mevalonic Aciduria 66
1961 KHL003 Kohlschutter-Tonz Syndrome 65
1962 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1963 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
1964 c MCP001 Mucopolysaccharidosis Iii 65
1965 PRP083 Porphyria, Acute Intermittent 64
1966 c MCP049 Mucopolysaccharidosis, Type Vii 63
1967 BLS001 Blau Syndrome 63
1968 P SHR029 Short Syndrome 63
1969 c ATM011 Autoimmune Hepatitis 63
1970 ELL001 Ellis-Van Creveld Syndrome 62
1971 c HPT001 Hepatitis C 62
1972 P PSR002 Psoriasis 62
1973 c HPT003 Hepatitis a 62
1974 c MLN065 Melanocytic Nevus Syndrome, Congenital 62
1975 BLL006 Bullous Pemphigoid 62
1976 c MCP043 Mucopolysaccharidosis, Type Iiia 61
1977 c MCP047 Mucopolysaccharidosis, Type Iva 61
1978 YLL002 Yellow Fever 61
1979 NTH001 Netherton Syndrome 60
1980 SZR001 Sezary's Disease 60
1981 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60
1982 P BRN019 Bernard-Soulier Syndrome 60
1983 c ALB021 Albinism, Oculocutaneous, Type Ii 59
1984 P AXN002 Axenfeld-Rieger Syndrome 59
1985 c HPT016 Hepatitis B 59
1986 c DNG003 Dengue Disease 59
1987 c MCP045 Mucopolysaccharidosis, Type Iiic 59
1988 P DNG005 Dengue Virus 59
1989 c MCP044 Mucopolysaccharidosis, Type Iiib 59
1990 P TYR004 Tyrosinemia 58
1991 c CHL140 Chilblain Lupus 1 58
1992 c BNG091 Benign Chronic Pemphigus 58
1993 P EHL001 Ehlers-Danlos Syndrome 58
1994 c MCP004 Mucopolysaccharidosis Iv 57
1995 c ALB009 Albinism, Oculocutaneous, Type Ia 57
1996 SKN022 Skin Squamous Cell Carcinoma 57
1997 P ADL017 Adult T-Cell Leukemia 56
1998 BSC001 Buschke-Ollendorff Syndrome 56
1999 P TMR010 Tumor Predisposition Syndrome 56
2000 EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
2001 MLT135 Multiple Sulfatase Deficiency 56
2002 SML019 Smallpox 56
2003 P WLL002 Weill-Marchesani Syndrome 56
2004 c CCK008 Cockayne Syndrome a 55
2005 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55
2006 P LRY044 Larynx Cancer 55
2007 P PMP001 Pemphigus 54
2008 PYD001 Pyoderma Gangrenosum 54
2009 SJG002 Sjogren-Larsson Syndrome 54
2010 RST011 Restrictive Dermopathy, Lethal 54
2011 HYP691 Hypomelanosis of Ito 53
2012 ACR014 Acral Lentiginous Melanoma 53
2013 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
2014 c HYP740 Hyperlipoproteinemia, Type V 53
2015 c HPT007 Hepatitis E 53
2016 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52
2017 c VRL010 Viral Hepatitis 52
2018 c MCP048 Mucopolysaccharidosis, Type Ivb 52
2019 c TRC092 Trichorhinophalangeal Syndrome, Type I 52
2020 c MCP046 Mucopolysaccharidosis, Type Iiid 51
2021 c HMC021 Hemochromatosis, Type 2a 51
2022 c HMC035 Hemochromatosis, Type 4 51
2023 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 51
2024 P VHW001 Vohwinkel Syndrome 51
2025 STR008 Strongyloidiasis 51
2026 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
2027 c GRS014 Griscelli Syndrome, Type 2 50
2028 CHL122 Cholesteatoma of Middle Ear 50
2029 c HMC009 Hemochromatosis Type 2 50
2030 c HMC010 Hemochromatosis, Type 3 50
2031 c HRD202 Hereditary Lymphedema I 50
2032 NPH018 Nephrogenic Systemic Fibrosis 50
2033 c HYP739 Hyperlipoproteinemia, Type Iv 50
2034 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 50
2035 c FML347 Familial Adenomatous Polyposis 2 49
2036 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
2037 P LRG012 Large Congenital Melanocytic Nevus 49
2038 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 49
2039 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
2040 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 49
2041 P CTN015 Cutaneous T Cell Lymphoma 49
2042 c HPT015 Hepatitis D 49
2043 MNL001 Monilethrix 48
2044 SPH001 Sapho Syndrome 48
2045 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
2046 c ALB019 Albinism, Oculocutaneous, Type Iv 48
2047 c WRD020 Waardenburg Syndrome, Type 4a 48
2048 c TYR013 Tyrosinemia, Type Ii 47
2049 IRN004 Iron-Refractory Iron Deficiency Anemia 47
2050 c HMN021 Human T-Cell Leukemia Virus Type 1 47
2051 c SHR030 Short Qt Syndrome 46
2052 BRT059 Bartsocas-Papas Syndrome 46
2053 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 46
2054 P PLL002 Pellagra 46
2055 HYP236 Hyperbilirubinemia, Rotor Type 46
2056 SCL002 Scleredema Adultorum 46
2057 ECZ002 Eczema Herpeticum 45
2058 APL023 Aplasia Cutis Congenita, Nonsyndromic 45
2059 MLK003 Melkersson-Rosenthal Syndrome 45
2060 ART035 Arterial Calcification of Infancy 45
2061 MLT018 Multiple Carboxylase Deficiency 45
2062 LRY022 Laryngoonychocutaneous Syndrome 44
2063 P GLP001 Geleophysic Dysplasia 44
2064 c GRS013 Griscelli Syndrome, Type 1 44
2065 WTK002 Witkop Syndrome 44
2066 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 44
2067 NDL001 Nodular Malignant Melanoma 44
2068 c EPD030 Epidermolysis Bullosa Simplex, Localized 44
2069 ACT164 Actinic Prurigo 44
2070 P PRM001 Primary Cutaneous Amyloidosis 44
2071 KMR001 Kimura Disease 43
2072 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 43
2073 c GLP003 Geleophysic Dysplasia 1 43
2074 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 43
2075 EPD029 Epidermolysis Bullosa Simplex, Generalized 43
2076 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 43
2077 TRC118 Trichodentoosseous Syndrome 43
2078 PHH001 Phaeohyphomycosis 42
2079 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 42
2080 c CHR576 Chronic Beryllium Disease 42
2081 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 42
2082 c HMC034 Hemochromatosis, Type 5 42
2083 CMP007 Complement Component 5 Deficiency 42
2084 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
2085 c FML294 Familial Short Qt Syndrome 41
2086 PRK003 Parkes Weber Syndrome 41
2087 P RRH023 Rare Hereditary Hemochromatosis 41
2088 SWT002 Sweat Gland Cancer 40
2089 c MCP051 Mucopolysaccharidosis, Type Ix 40
2090 LNR006 Linear Iga Disease 40
2091 CLD014 Cole Disease 40
2092 c TYR011 Tyrosinemia, Type Iii 40
2093 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
2094 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 40
2095 TRC077 Trichomegaly 40
2096 P BRY005 Beryllium Disease 40
2097 P TRC031 Trichorhinophalangeal Syndrome 40
2098 CTN004 Cutaneous Fibrous Histiocytoma 39
2099 c GLP004 Geleophysic Dysplasia 2 39
2100 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 39
2101 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 39
2102 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38
2103 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 38
2104 EPD022 Epidermolysis Bullosa Pruriginosa 38
2105 P PRM327 Primary Lymphedema 38
2106 c HMN022 Human T-Cell Leukemia Virus Type 2 37
2107 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 37
2108 CYS004 Cystic Basal Cell Carcinoma 37
2109 c HRD007 Hereditary Lymphedema 37
2110 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 37
2111 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 37
2112 HDR004 Hidradenoma 37
2113 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
2114 c XLN227 X-Linked Chondrodysplasia Punctata 1 36
2115 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36
2116 GPS001 Gapo Syndrome 36
2117 c HMC019 Hemochromatosis, Type 2b 36
2118 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
2119 c WLL036 Weill-Marchesani Syndrome 1 35
2120 c ALB016 Albinism, Oculocutaneous, Type Vii 35
2121 c WLL037 Weill-Marchesani Syndrome 2 35
2122 c PRM299 Primary Cutaneous B-Cell Lymphoma 35
2123 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 35
2124 c ATM112 Autoimmune Hepatitis Type 1 35
2125 c PRM301 Primary Cutaneous T-Cell Lymphoma 35
2126 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 34
2127 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 34
2128 ODN009 Odontoonychodermal Dysplasia 34
2129 c LKM005 Leukemia, T-Cell, Chronic 34
2130 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34
2131 c GLP007 Geleophysic Dysplasia 3 34
2132 c WLL040 Weill-Marchesani Syndrome 4 33
2133 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 33
2134 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 33
2135 CYL004 Cylindromatosis, Familial 33
2136 c HRD206 Hereditary Lymphedema Ii 33
2137 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 32
2138 c SHR032 Short Qt Syndrome 2 32
2139 BJL001 Bejel 32
2140 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
2141 MCR016 Micronodular Basal Cell Carcinoma 32
2142 SBC018 Sebaceous Gland Neoplasm 32
2143 SGN001 Signet Ring Basal Cell Carcinoma 32
2144 c CNG439 Congenital Lymphedema 32
2145 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 32
2146 ADN015 Adenoid Basal Cell Carcinoma 32
2147 RMB001 Rombo Syndrome 31
2148 P ALB003 Albinism-Deafness Syndrome 31
2149 HRZ001 Huriez Syndrome 31
2150 c FML324 Familial Porphyria Cutanea Tarda 31
2151 CFL005 Cafe-Au-Lait Spots, Multiple 31
2152 SKN024 Skin Fragility-Woolly Hair Syndrome 30
2153 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 30
2154 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 30
2155 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 30
2156 c ATM111 Autoimmune Hepatitis Type 2 30
2157 KRT047 Keratosis Pilaris Atrophicans 30
2158 P SKN009 Skin Granular Cell Tumor 30
2159 ECC001 Eccrine Papillary Adenocarcinoma 30
2160 c PRP091 Porphyria Cutanea Tarda, Type I 29
2161 SKN018 Skin Hemangioma 29
2162 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 29
2163 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 29
2164 c FML339 Familial Adenomatous Polyposis 4 29
2165 c SHR033 Short Qt Syndrome 3 29
2166 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 29
2167 IMM153 Immunodeficiency 51 28
2168 CRC001 Cercarial Dermatitis 28
2169 c SHR031 Short Qt Syndrome 1 28
2170 c FML299 Familial Adenomatous Polyposis 3 28
2171 SRC003 Sarcomatoid Basal Cell Carcinoma 28
2172 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 27
2173 CBB002 Cobb Syndrome 27
2174 DGT002 Digital Clubbing, Isolated Congenital 27
2175 PTY007 Pityriasis Rotunda 27
2176 SKN021 Skin Sarcoma 27
2177 c TYP003 Type I Ehlers-Danlos Syndrome 27
2178 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 26
2179 NCR009 Necrobiotic Xanthogranuloma 26
2180 CTN009 Cutaneous Adenocystic Carcinoma 26
2181 DPT001 Dipetalonemiasis 26
2182 LMB076 Lumbar Syndrome 26
2183 c CHL114 Chilblain Lupus 2 26
2184 P FML337 Familial Chilblain Lupus 25
2185 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 25
2186 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 25
2187 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
2188 c HRD100 Hereditary Lymphedema Ic 24
2189 c WLL038 Weill-Marchesani Syndrome 3 24
2190 PGM010 Pigmented Purpuric Eruption 24
2191 ECC007 Eccrine Sweat Gland Cancer 23
2192 PLM104 Palmoplantar Keratoderma, Nagashima Type 23
2193 c HYP819 Hyperlipoproteinemia, Type Id 23
2194 c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23
2195 SKN011 Skin Pilomatrix Carcinoma 23
2196 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 23
2197 TBS009 Teebi-Shaltout Syndrome 22
2198 FLY003 Flynn-Aird Syndrome 22
2199 KRT066 Keratosis, Focal Palmoplantar and Gingival 22
2200 PLM177 Pilomatrix Carcinoma 22
2201 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
2202 GRM003 German Syndrome 22
2203 CRN070 Corneodermatoosseous Syndrome 22
2204 c FHT001 Fh Tumor Predisposition Syndrome 21
2205 VSC009 Vascular Skin Disease 21
2206 BLL009 Bullous Dystrophy Hereditary Macular Type 21
2207 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
2208 GST108 Gist-Plus Syndrome 21
2209 DRM023 Dermoodontodysplasia 21
2210 DRM042 Dermatoosteolysis, Kirghizian Type 20
2211 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 20
2212 c ATP003 Atp6v0a2-Related Cutis Laxa 20
2213 HYP489 Hypotrichosis-Deafness Syndrome 20
2214 VLV002 Vulva Basal Cell Carcinoma 19
2215 VLV046 Vulvovaginal Gingival Syndrome 19
2216 9Q3002 9q33.3q34.11 Microdeletion Syndrome 19
2217 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 19
2218 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
2219 CTN002 Cutaneous Mucoepidermoid Carcinoma 19
2220 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 19
2221 OCL057 Oculotrichodysplasia 19
2222 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 18
2223 CNC020 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 18
2224 CRN224 Craniofaciofrontodigital Syndrome 18
2225 ANL016 Anal Margin Carcinoma 18
2226 MLN018 Moloney Syndrome 18
2227 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 18
2228 c PLL014 Pellagra-Like Syndrome 18
2229 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 17
2230 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 17
2231 ACR078 Acral Self-Healing Collodion Baby 17
2232 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
2233 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
2234 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
2235 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
2236 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
2237 CHM001 Cahmr Syndrome 16
2238 JSS002 Jessner Lymphocytic Infiltration of the Skin 16
2239 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 15
2240 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 15
2241 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
2242 c FML205 Familial Anetoderma 14
2243 PNS008 Penis Basal Cell Carcinoma 13
2244 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 12
2245 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 12
2246 c HMN023 Human T-Cell Leukemia Virus Type 3 12
2247 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
2248 SKN017 Skin Glomangioma 11
2249 c DFN345 Deafness, Congenital, with Total Albinism 11
2250 LBM005 Labia Minora Cancer 10
2251 c HRD203 Hereditary Lymphedema Id 10
2252 EXT018 External Ear Basal Cell Carcinoma 10
2253 c LRY009 Larynx Carcinoma in Situ 10
2254 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 10
2255 CLC050 Calciphylaxis Cutis 10
2256 MLG010 Malignant Eyelid Melanoma 9
2257 BSL002 Basaloid Squamous Cell Skin Carcinoma 9
2258 NNN006 Noninfectious Dermatoses of Eyelid 9
2259 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 8
2260 PRN012 Perianal Skin Paget's Disease 7
2261 PZ1002 Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis 7
2262 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
2263 ALL005 Allergic Contact Dermatitis of Eyelid 7
2264 c HRD204 Hereditary Lymphedema Ia 7
2265 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 6
2266 CLR010 Clear Cell Squamous Cell Skin Carcinoma 6
2267 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 6
2268 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 6
2269 c HRD205 Hereditary Lymphedema Ib 6
2270 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 6
2271 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
2272 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 5
2273 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5
2274 CNG614 Congenital Primary Lymphedema of Gordon 5
2275 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 4
2276 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 4
2277 OTH019 Other Metabolic Disease with Skin Involvement 4
2278 MSL001 Measles 62
2279 PNT003 Pinta Disease 31
2280 BSL036 Basal Cell Nevus Syndrome 73
2281 XRD010 Xeroderma Pigmentosum, Variant Type 73
2282 PTZ001 Peutz-Jeghers Syndrome 70
2283 P MLN066 Melanoma, Cutaneous Malignant 1 70
2284 ADL002 Adult Syndrome 70
2285 LKC009 Leukocyte Adhesion Deficiency, Type I 69
2286 MST024 Mastocytosis, Cutaneous 69
2287 c MCL062 Mucolipidosis Ii Alpha/beta 68
2288 c PRD013 Periodic Fever, Familial, Autosomal Dominant 67
2289 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2290 c PSD108 Pseudohypoparathyroidism, Type Ia 66
2291 P EPD009 Epidermolysis Bullosa Dystrophica 66
2292 c MCL013 Mucolipidosis Iv 66
2293 P PSD087 Pseudoxanthoma Elasticum 65
2294 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 65
2295 CHR063 Chronic Mucocutaneous Candidiasis 63
2296 PHL006 Phelan-Mcdermid Syndrome 62
2297 P BTH005 Bethlem Myopathy 1 61
2298 c PRT132 Protoporphyria, Erythropoietic, 1 61
2299 DYS164 Dyskeratosis Congenita, X-Linked 60
2300 c HRD002 Hereditary Angioedema 60
2301 PBL005 Piebald Trait 59
2302 PNM001 Pneumocystosis 59
2303 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 59
2304 P WRD001 Waardenburg's Syndrome 59
2305 VLV032 Vulva Cancer 59
2306 CLS005 Clouston Syndrome 58
2307 P FML052 Familial Cold Autoinflammatory Syndrome 58
2308 P ANP001 Anaplastic Large Cell Lymphoma 58
2309 FML063 Familial Glucocorticoid Deficiency 58
2310 ERY003 Erythema Multiforme 58
2311 P PTY003 Pityriasis Rubra Pilaris 58
2312 PMP006 Pemphigus Vulgaris, Familial 57
2313 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
2314 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 57
2315 c MCL046 Mucolipidosis Iii Alpha/beta 56
2316 INS023 Insensitivity to Pain, Congenital, with Anhidrosis 56
2317 P PSD015 Pseudohypoparathyroidism 56
2318 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
2319 FLR001 Filarial Elephantiasis 55
2320 c PSD066 Pseudohypoparathyroidism, Type Ib 55
2321 c CCK007 Cockayne Syndrome B 54
2322 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
2323 c FML116 Familial Cold Autoinflammatory Syndrome 1 54
2324 P FML012 Familial Partial Lipodystrophy 54
2325 NXS001 Naxos Disease 53
2326 P AMY084 Amyloidosis, Finnish Type 53
2327 CYS005 Cysticercosis 53
2328 c HRM017 Hermansky-Pudlak Syndrome 2 53
2329 TRC096 Trichothiodystrophy 52
2330 c CNG012 Congenital Generalized Lipodystrophy 52
2331 P NLX004 Neu-Laxova Syndrome 1 52
2332 PRL019 Prolidase Deficiency 52
2333 c ALB020 Albinism, Oculocutaneous, Type Iii 51
2334 P PRM018 Primary Hypertrophic Osteoarthropathy 51
2335 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 51
2336 RSD004 Rosai-Dorfman Disease 51
2337 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50
2338 DBW001 Dubowitz Syndrome 49
2339 BRR012 Berardinelli-Seip Congenital Lipodystrophy 49
2340 GRD005 Geroderma Osteodysplasticum 49
2341 P HLL001 Hallermann-Streiff Syndrome 48
2342 P MCL001 Mucolipidosis 48
2343 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 48
2344 DYS022 Dyschromatosis Symmetrica Hereditaria 48
2345 c NLX003 Neu-Laxova Syndrome 2 47
2346 c FML253 Familial Cold Autoinflammatory Syndrome 3 47
2347 LMT001 Limited Scleroderma 47
2348 P ACQ022 Acquired Generalized Lipodystrophy 47
2349 RYN003 Reynolds Syndrome 46
2350 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
2351 STT007 Steatocystoma Multiplex 46
2352 c WRD019 Waardenburg Syndrome, Type 4b 45
2353 EHL015 Ehlers-Danlos Syndrome Progeroid Type 45
2354 BRT001 Bart-Pumphrey Syndrome 45
2355 c WRD024 Waardenburg Syndrome, Type 4c 45
2356 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
2357 LSS001 Loiasis 44
2358 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 44
2359 MLD006 Mal De Meleda 44
2360 MND025 Mandibulofacial Dysostosis with Alopecia 43
2361 c MCL016 Mucolipidosis Iii Gamma 43
2362 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
2363 c FML117 Familial Cold Autoinflammatory Syndrome 2 43
2364 TRN021 Transaldolase Deficiency 43
2365 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
2366 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
2367 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
2368 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
2369 CTS002 Cat-Scratch Disease 41
2370 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 41
2371 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 41
2372 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 40
2373 APC004 Apocrine Adenocarcinoma 40
2374 c LPD034 Lipodystrophy, Familial Partial, Type 4 39
2375 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
2376 NTR042 Neutrophilic Dermatosis, Acute Febrile 38
2377 TRN029 Transient Bullous Dermolysis of the Newborn 38
2378 P HML047 Heimler Syndrome 1 38
2379 ERY017 Erythema Elevatum Diutinum 38
2380 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
2381 c PSD117 Pseudohypoparathyroidism, Type Ic 38
2382 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 37
2383 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
2384 c MLG049 Malignant Syringoma 37
2385 VBR001 Vibratory Urticaria 36
2386 TMP011 Temple-Baraitser Syndrome 36
2387 c GRS012 Griscelli Syndrome, Type 3 36
2388 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 36
2389 WRN004 Wrinkly Skin Syndrome 36
2390 c LPD040 Lipodystrophy, Familial Partial, Type 1 35
2391 ANG062 Angioosteohypertrophic Syndrome 35
2392 MCR183 Microcephaly-Capillary Malformation Syndrome 34
2393 c BTH006 Bethlem Myopathy 2 34
2394 BSL044 Basal Cell Carcinoma, Infundibulocystic 34
2395 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
2396 P HRD214 Hereditary Periodic Fever Syndrome 33
2397 SHH004 Shaheen Syndrome 32
2398 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 32
2399 c CNG188 Congenital Disorder of Glycosylation, Type if 32
2400 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 31
2401 c PSD104 Pseudohypoparathyroidism, Type Ii 31
2402 c HML046 Heimler Syndrome 2 30
2403 PLV001 Pelvic Lipomatosis 30
2404 WYB002 Wyburn-Mason Syndrome 30
2405 JHN004 Johnson Neuroectodermal Syndrome 30
2406 c WRD010 Waardenburg Syndrome Type 4 29
2407 MCP039 Mucoepithelial Dysplasia, Hereditary 29
2408 c CNG133 Congenital Varicella Syndrome 28
2409 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 28
2410 ECC008 Eccrine Sweat Gland Neoplasm 28
2411 P ATM076 Autoimmune Retinopathy 27
2412 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
2413 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 25
2414 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
2415 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 23
2416 JNT001 Joint Laxity, Familial 23
2417 ECT073 Ectodermal Dysplasia/short Stature Syndrome 23
2418 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 23
2419 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 22
2420 c FML249 Familial Amyloidosis, Finnish Type 22
2421 c CCK004 Cockayne Syndrome Type Iii 21
2422 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 21
2423 ZNC006 Zinc, Elevated Plasma 20
2424 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 19
2425 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 18
2426 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
2427 c PRT135 Protoporphyria, Erythropoietic, 2 18
2428 VND003 Van Den Bosch Syndrome 17
2429 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
2430 c NDP001 Ndp-Related Retinopathies 14
2431 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 13
2432 c ANP011 Anaplastic Small Cell Lymphoma 13
2433 P DFN296 Deafness-Onychodystrophy Syndrome 13
2434 ANL007 Anal Margin Squamous Cell Carcinoma 13
2435 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 12
2436 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
2437 c HLL012 Hallermann-Streiff-Like Syndrome 10
2438 P VRC007 Varicella, Severe Recurrent 7
2439 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
2440 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
2441 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
2442 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 4
2443 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 4
2444 CHC001 Chickenpox 60
2445 BRL010 Buruli Ulcer 46
2446 FBR012 Fabry Disease 72
2447 MCC012 Mccune-Albright Syndrome 70
2448 NVS017 Nevus, Epidermal 68
2449 MYC006 Mycosis Fungoides 66
2450 P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 66
2451 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
2452 P PRT008 Proteus Syndrome 64
2453 RFS006 Refsum Disease, Classic 64
2454 P HRD008 Hereditary Hemorrhagic Telangiectasia 63
2455 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
2456 RHM001 Rheumatic Fever 60
2457 NRF008 Neurofibromatosis-Noonan Syndrome 60
2458 MRT001 Muir-Torre Syndrome 60
2459 LGS001 Legius Syndrome 59
2460 c PCH015 Pachyonychia Congenita 1 59
2461 DBN001 Dubin-Johnson Syndrome 59
2462 KLP010 Klippel-Trenaunay-Weber Syndrome 59
2463 PLM026 Pilomatrixoma 58
2464 VRG001 Variegate Porphyria 56
2465 PRP082 Porphyria, Congenital Erythropoietic 56
2466 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54
2467 c ALB010 Albinism, Oculocutaneous, Type Ib 54
2468 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 54
2469 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 54
2470 PRC002 Paracoccidioidomycosis 54
2471 JHN001 Johanson-Blizzard Syndrome 52
2472 c BRL011 Bare Lymphocyte Syndrome, Type I 52
2473 NRL002 Neurilemmomatosis 51
2474 CLC001 Calciphylaxis 51
2475 LPD016 Lipoid Proteinosis of Urbach and Wiethe 50
2476 P BRT029 Brittle Cornea Syndrome 2 50
2477 c CPL013 Capillary Malformations, Congenital 50
2478 ADR038 Adermatoglyphia 49
2479 P BLP047 Blepharocheilodontic Syndrome 1 48
2480 c LYM144 Lymphatic Malformation 1 48
2481 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 47
2482 P ERY008 Erythromelalgia 47
2483 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 46
2484 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45
2485 P FRN036 Frontonasal Dysplasia 1 44
2486 TYL002 Tylosis with Esophageal Cancer 43
2487 ECC004 Eccrine Porocarcinoma 43
2488 YLL001 Yellow Nail Syndrome 42
2489 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 41
2490 BJR001 Bjornstad Syndrome 41
2491 c LYM150 Lymphatic Malformation 7 40
2492 BLR027 Blue Rubber Bleb Nevus 40
2493 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 39
2494 DRM021 Dermatopathia Pigmentosa Reticularis 39
2495 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 38
2496 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 36
2497 MLG048 Malignant Acrospiroma 34
2498 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 33
2499 P RRL003 Rare Lymphatic Malformation 31
2500 KPP002 Keppen-Lubinsky Syndrome 31
2501 STY001 Satoyoshi Syndrome 30
2502 c FRN033 Frontonasal Dysplasia 2 29
2503 c LYM149 Lymphatic Malformation 6 28
2504 c FRN032 Frontonasal Dysplasia 3 28
2505 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 28
2506 c PRT063 Proteus-Like Syndrome 27
2507 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 26
2508 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 26
2509 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 25
2510 SCR025 Scarf Syndrome 25
2511 c BLP049 Blepharocheilodontic Syndrome 2 24
2512 ARD001 Aredyld 24
2513 c LYM147 Lymphatic Malformation 3 23
2514 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
2515 c LYM148 Lymphatic Malformation 4 22
2516 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
2517 c LYM155 Lymphatic Malformation 8 19
2518 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 19
2519 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 17
2520 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 16
2521 c LYM146 Lymphatic Malformation 2 16
2522 c SX2003 Six2-Related Frontonasal Dysplasia 15
2523 c SCN066 Secondary Erythromelalgia 12
2524 P PCH020 Pachyonychia Congenita, Autosomal Recessive 11
2525 P RRC010 Rare Capillary Malformation 7
2526 c RRD022 Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection 5
2527 P ATX030 Ataxia-Telangiectasia 82
2528 CNN003 Conn's Syndrome 79
2529 P OCL013 Oculodentodigital Dysplasia 69
2530 P CWD010 Cowden Syndrome 67
2531 CHD001 Chediak-Higashi Syndrome 66
2532 CNC002 Cinca Syndrome 65
2533 GRN037 Granulomatosis with Polyangiitis 65
2534 BRK001 Brooke-Spiegler Syndrome 64
2535 c LPD015 Lipodystrophy, Familial Partial, Type 2 64
2536 P CRN108 Cranioectodermal Dysplasia 1 62
2537 P DRM010 Dermatomyositis 61
2538 LCR014 Lacrimoauriculodentodigital Syndrome 61
2539 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 60
2540 STR039 Sturge-Weber Syndrome 60
2541 P OCL002 Oculocutaneous Albinism 60
2542 NLP001 Nail-Patella Syndrome 60
2543 CRT002 Cartilage-Hair Hypoplasia 59
2544 GLB001 Gilbert Syndrome 58
2545 ALK013 Alkaptonuria 58
2546 BRG013 Buerger Disease 58
2547 CPR004 Coproporphyria, Hereditary 57
2548 CHR105 Choreoacanthocytosis 57
2549 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 57
2550 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56
2551 IMM140 Immunodeficiency 47 56
2552 c WRD030 Waardenburg Syndrome, Type 1 56
2553 DYS002 Dysplastic Nevus Syndrome 53
2554 P GRS003 Griscelli Syndrome 53
2555 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 52
2556 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
2557 P MNT185 Mental Retardation, Autosomal Dominant 7 45
2558 MLN073 Melanosis, Neurocutaneous 45
2559 LTH001 Lethal Midline Granuloma 44
2560 ORL015 Oral Squamous Cell Carcinoma 43
2561 KRT058 Keratoderma, Palmoplantar, with Deafness 42
2562 c MNT319 Mental Retardation, Autosomal Dominant 20 42
2563 c MNT242 Mental Retardation, Autosomal Dominant 40 41
2564 c MNT245 Mental Retardation, Autosomal Dominant 36 41
2565 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 40
2566 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 38
2567 c MNT332 Mental Retardation, Autosomal Dominant 56 38
2568 c MNT262 Mental Retardation, Autosomal Dominant 42 37
2569 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
2570 c MNT240 Mental Retardation, Autosomal Dominant 33 37
2571 c CRN109 Cranioectodermal Dysplasia 2 36
2572 c MNT212 Mental Retardation, Autosomal Dominant 26 36
2573 HMM002 Haim-Munk Syndrome 36
2574 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 36
2575 c MNT143 Mental Retardation, Autosomal Dominant 13 35
2576 c MNT179 Mental Retardation, Autosomal Dominant 21 35
2577 LMB008 Limb-Mammary Syndrome 35
2578 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
2579 c MNT226 Mental Retardation, Autosomal Dominant 31 33
2580 ACR025 Acrocephalopolydactylous Dysplasia 33
2581 c MNT222 Mental Retardation, Autosomal Dominant 29 33
2582 c MNT157 Mental Retardation, Autosomal Dominant 18 32
2583 c MNT323 Mental Retardation, Autosomal Dominant 48 31
2584 c CRN111 Cranioectodermal Dysplasia 4 31
2585 c MNT239 Mental Retardation, Autosomal Dominant 35 30
2586 c MNT158 Mental Retardation, Autosomal Dominant 22 30
2587 c CWD008 Cowden Syndrome 6 30
2588 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 29
2589 c MNT211 Mental Retardation, Autosomal Dominant 23 29
2590 c MNT186 Mental Retardation, Autosomal Dominant 10 29
2591 c MNT246 Mental Retardation, Autosomal Dominant 38 29
2592 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 29
2593 c MNT145 Mental Retardation, Autosomal Recessive 5 29
2594 PHC006 Phacomatosis Pigmentovascularis 28
2595 c MNT270 Mental Retardation, Autosomal Recessive 53 28
2596 c MNT183 Mental Retardation, Autosomal Recessive 36 28
2597 c MNT210 Mental Retardation, Autosomal Recessive 42 28
2598 c CWD004 Cowden Syndrome 5 27
2599 c MNT219 Mental Retardation, Autosomal Dominant 30 27
2600 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 27
2601 c MNT166 Mental Retardation, Autosomal Recessive 39 27
2602 c CRN110 Cranioectodermal Dysplasia 3 27
2603 c MNT213 Mental Retardation, Autosomal Recessive 40 27
2604 c MNT216 Mental Retardation, Autosomal Recessive 41 26
2605 c CWD009 Cowden Syndrome 7 26
2606 c MNT272 Mental Retardation, Autosomal Dominant 41 26
2607 c MNT279 Mental Retardation, Autosomal Dominant 47 26
2608 c MNT150 Mental Retardation, Autosomal Recessive 15 26
2609 c MNT282 Mental Retardation, Autosomal Recessive 55 26
2610 c MNT280 Mental Retardation, Autosomal Dominant 43 25
2611 c MNT334 Mental Retardation, Autosomal Dominant 57 25
2612 c MNT321 Mental Retardation, Autosomal Recessive 37 25
2613 c MNT176 Mental Retardation, Autosomal Recessive 38 24
2614 c MNT155 Mental Retardation, Autosomal Recessive 2 24
2615 c MNT236 Mental Retardation, Autosomal Dominant 39 24
2616 c MNT184 Mental Retardation, Autosomal Dominant 11 24
2617 c MNT328 Mental Retardation, Autosomal Dominant 52 24
2618 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
2619 c MNT238 Mental Retardation, Autosomal Dominant 34 23
2620 c MNT337 Mental Retardation, Autosomal Dominant 58 23
2621 c MNT329 Mental Retardation, Autosomal Dominant 53 23
2622 c MNT244 Mental Retardation, Autosomal Recessive 49 23
2623 c MNT326 Mental Retardation, Autosomal Dominant 50 23
2624 c MNT234 Mental Retardation, Autosomal Recessive 48 22
2625 c MNT287 Mental Retardation, Autosomal Recessive 57 22
2626 c MNT325 Mental Retardation, Autosomal Recessive 61 22
2627 c MNT227 Mental Retardation, Autosomal Recessive 46 22
2628 c MNT177 Mental Retardation, Autosomal Recessive 27 22
2629 c MNT330 Mental Retardation, Autosomal Dominant 54 22
2630 c MNT286 Mental Retardation, Autosomal Dominant 45 22
2631 c MNT338 Mental Retardation, Autosomal Recessive 65 22
2632 c MNT339 Mental Retardation, Autosomal Recessive 66 21
2633 c CWD005 Cowden Syndrome 4 21
2634 c MNT285 Mental Retardation, Autosomal Recessive 58 21
2635 c MNT221 Mental Retardation, Autosomal Recessive 44 21
2636 c MNT327 Mental Retardation, Autosomal Dominant 51 21
2637 c MNT278 Mental Retardation, Autosomal Dominant 46 20
2638 c MNT151 Mental Retardation, Autosomal Recessive 18 20
2639 c MNT181 Mental Retardation, Autosomal Recessive 35 19
2640 c MNT275 Mental Retardation, Autosomal Recessive 60 19
2641 c MNT154 Mental Retardation, Autosomal Recessive 14 19
2642 c MNT225 Mental Retardation, Autosomal Recessive 47 19
2643 c MNT336 Mental Retardation, Autosomal Recessive 64 19
2644 c MNT215 Mental Retardation, Autosomal Recessive 43 19
2645 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 19
2646 c MNT220 Mental Retardation, Autosomal Recessive 45 18
2647 c MNT263 Mental Retardation, Autosomal Recessive 51 18
2648 c MNT243 Mental Retardation, Autosomal Recessive 50 18
2649 c MNT277 Mental Retardation, Autosomal Recessive 54 17
2650 c MNT264 Mental Retardation, Autosomal Recessive 52 17
2651 c MNT281 Mental Retardation, Autosomal Recessive 59 17
2652 c MNT172 Mental Retardation, Autosomal Recessive 25 17
2653 c MNT284 Mental Retardation, Autosomal Recessive 56 16
2654 c MNT335 Mental Retardation, Autosomal Recessive 63 16
2655 c MNT180 Mental Retardation, Autosomal Recessive 33 16
2656 c MNT162 Mental Retardation, Autosomal Recessive 24 16
2657 c MNT163 Mental Retardation, Autosomal Recessive 30 15
2658 c MNT161 Mental Retardation, Autosomal Recessive 29 15
2659 c MNT167 Mental Retardation, Autosomal Recessive 16 15
2660 c MNT165 Mental Retardation, Autosomal Recessive 28 15
2661 c MNT182 Mental Retardation, Autosomal Recessive 19 15
2662 c MNT170 Mental Retardation, Autosomal Recessive 23 14
2663 c MNT160 Mental Retardation, Autosomal Recessive 31 13
2664 c ATS394 Autosomal Dominant Mental Retardation 55 5
2665 c OCL037 Oculodentodigital Dysplasia Dominant 3
2666 ANG005 Anogenital Venereal Wart 55
2667 WRN001 Werner Syndrome 69
2668 FBR011 Fibrodysplasia Ossificans Progressiva 67
2669 PPL049 Papillon-Lefevre Syndrome 65
2670 DRM014 Dermatofibrosarcoma Protuberans 65
2671 MRK001 Merkel Cell Carcinoma 65
2672 OSS012 Osseous Heteroplasia, Progressive 61
2673 MRS002 Marshall Syndrome 58
2674 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 53
2675 P INT099 Intrahepatic Cholestasis of Pregnancy 51
2676 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 49
2677 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
2678 NST002 Nestor-Guillermo Progeria Syndrome 38
2679 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
2680 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
2681 MSC089 Mosaic Monosomy X 21
2682 c CWD006 Cowden Syndrome 1 78
2683 P NNN008 Noonan Syndrome 1 76
2684 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65
2685 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61
2686 BTN003 Biotinidase Deficiency 61
2687 P CRB101 Cerebrooculofacioskeletal Syndrome 1 60
2688 c ORF037 Orofaciodigital Syndrome I 60
2689 CHL028 Childhood Type Dermatomyositis 58
2690 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 57
2691 CHR003 Cherubism 57
2692 c ORF034 Orofaciodigital Syndrome Vi 55
2693 c ORF040 Orofaciodigital Syndrome Viii 50
2694 SCL046 Scalp-Ear-Nipple Syndrome 49
2695 c NNN010 Noonan Syndrome 3 49
2696 P ORF001 Orofaciodigital Syndrome 48
2697 c ORF035 Orofaciodigital Syndrome Iv 47
2698 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 46
2699 c NNN013 Noonan Syndrome 6 45
2700 c ORF033 Orofaciodigital Syndrome V 44
2701 c NNN011 Noonan Syndrome 4 44
2702 c NNN021 Noonan Syndrome 8 41
2703 c NNN009 Noonan Syndrome 2 39
2704 LYM094 Lymphedema, Primary, with Myelodysplasia 39
2705 BRB006 Barber-Say Syndrome 37
2706 c NNN012 Noonan Syndrome 5 37
2707 c ORF043 Orofaciodigital Syndrome Ix 37
2708 c NNN020 Noonan Syndrome 7 36
2709 c ORF038 Orofaciodigital Syndrome Iii 33
2710 c NNN024 Noonan Syndrome 9 33
2711 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
2712 c NNN025 Noonan Syndrome 10 32
2713 c ORF036 Orofaciodigital Syndrome Xiv 30
2714 c ORF041 Orofaciodigital Syndrome X 26
2715 c NNN034 Noonan Syndrome 12 24
2716 c ORF042 Orofaciodigital Syndrome Xi 24
2717 c ORF046 Orofaciodigital Syndrome Xvi 24
2718 c NNN029 Noonan Syndrome 11 24
2719 c ORF052 Orofaciodigital Syndrome Xviii 23
2720 c ORF051 Orofaciodigital Syndrome Xvii 23
2721 c ORF045 Orofaciodigital Syndrome Xv 21
2722 c ORF039 Orofaciodigital Syndrome Vii 20
2723 c ORF006 Orofaciodigital Syndrome 13 13
2724 c ORF005 Orofaciodigital Syndrome 12 13
2725 MCK007 Muckle-Wells Syndrome 65
2726 BRT002 Birt-Hogg-Dube Syndrome 63
2727 P PRP056 Porphyria, Acute Hepatic 48
2728 P PHS005 Peho Syndrome 44
2729 P EPD083 Epidermodysplasia Verruciformis 1 58
2730 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 55
2731 P LPR021 Leprosy 3 69
2732 c LPR022 Leprosy 2 37
2733 c LPR023 Leprosy 1 22
2734 c LPR017 Leprosy 5 19
2735 c LPR016 Leprosy 4 16
2736 c LPR020 Leprosy 6 16
2737 PSD014 Pseudopseudohypoparathyroidism 55



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