Skin Diseases Category (2911 diseases)


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

# Family MCID Name MIFTS
1 DRM011 Dermatophytosis 56
2 c XRD031 Xeroderma Pigmentosum, Complementation Group F 56
3 c XRD023 Xeroderma Pigmentosum, Complementation Group G 54
4 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 41
5 ECT109 Ectodermal Dysplasia and Immunodeficiency 2 32
6 P XRD029 Xeroderma Pigmentosum, Complementation Group a 57
7 c XRD022 Xeroderma Pigmentosum, Complementation Group D 56
8 c XRD030 Xeroderma Pigmentosum, Complementation Group C 54
9 P MLN008 Melanoma 74
10 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 26
11 P MLN069 Melanoma, Uveal 62
12 OCL022 Ocular Melanoma 50
13 c XRD032 Xeroderma Pigmentosum, Complementation Group B 49
14 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
15 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
16 c EPD095 Epidermolysis Bullosa Simplex 1c, Localized 34
17 BST005 Bustos Simosa Pinto Cisternas Syndrome 24
18 c XRD021 Xeroderma Pigmentosum, Complementation Group E 46
19 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
20 AML001 Amelanotic Melanoma 38
21 c EPD123 Epidermolysis Bullosa, Junctional 4, Intermediate 36
22 c EPD106 Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive 31
23 SPR033 Superficial Spreading Melanoma 28
24 c EPD086 Epidermodysplasia Verruciformis 4 26
25 P CRN323 Cranioectodermal Dysplasia 60
26 c CRN108 Cranioectodermal Dysplasia 1 49
27 c CRN111 Cranioectodermal Dysplasia 4 45
28 MLG005 Malignant Spindle Cell Melanoma 41
29 c HRD223 Hereditary Melanoma 37
30 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 32
31 c CRN110 Cranioectodermal Dysplasia 3 27
32 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 19
33 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 12
34 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 9
35 c PST022 Posterior Uveal Melanoma 34
36 CYL004 Cylindromatosis, Familial 31
37 ESP016 Esophagus Melanoma 25
38 TNN002 Tinea Unguium 38
39 GMZ002 Gomez-Lopez-Hernandez Syndrome 32
40 c EPD124 Epidermolysis Bullosa, Junctional 5a, Intermediate 26
41 LPD014 Lipodermatosclerosis 23
42 c EPD122 Epidermolysis Bullosa, Junctional 3b, Severe 22
43 c EPD120 Epidermolysis Bullosa, Junctional 2b, Severe 21
44 c EPD121 Epidermolysis Bullosa, Junctional 3a, Intermediate 20
45 c EPD119 Epidermolysis Bullosa, Junctional 2a, Intermediate 19
46 c EPD087 Epidermodysplasia Verruciformis 5 19
47 P WLL002 Weill-Marchesani Syndrome 55
48 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 53
49 c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 48
50 P ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 48
51 c ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 48
52 MLG142 Malignant Conjunctival Melanoma 47
53 c ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 46
54 c ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 46
55 c ARR018 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 45
56 c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 45
57 c ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 43
58 c RST025 Restrictive Dermopathy 1 42
59 MLN070 Melanoma-Astrocytoma Syndrome 38
60 c ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 36
61 c WLL040 Weill-Marchesani Syndrome 4 35
62 c ARR048 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 35
63 XRD027 Xeroderma Pigmentosum Group E 35
64 c ARR049 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 34
65 c EPD100 Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive 32
66 c ARR047 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 28
67 c WLL038 Weill-Marchesani Syndrome 3 24
68 c MLN039 Melanoma, Uveal 1 22
69 c ARR051 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 22
70 c RST026 Restrictive Dermopathy 2 21
71 c ARR052 Arrhythmogenic Right Ventricular Dysplasia 14 5
72 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 43
73 ECT095 Ectodermal Dysplasia 13, Hair/tooth Type 37
74 OVR051 Ovarian Endodermal Sinus Tumor 35
75 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 34
76 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
77 SLT017 Solitary Mastocytoma of the Skin 30
78 c EPD085 Epidermodysplasia Verruciformis 3 25
79 c EPD110 Epidermolysis Bullosa Simplex 2c, Localized 24
80 c EPD108 Epidermolysis Bullosa Simplex 2a, Generalized Severe 23
81 c EPD084 Epidermodysplasia Verruciformis 2 23
82 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
83 GNT084 Genetic Photodermatosis 7
84 MLG052 Malignant Cornea Melanoma 6
85 c MLN065 Melanocytic Nevus Syndrome, Congenital 59
86 BLS002 Blastomycosis 50
87 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 28
88 c EPD109 Epidermolysis Bullosa Simplex 2b, Generalized Intermediate 22
89 ECT111 Ectodermal Dysplasia 15, Hypohidrotic/hair Type 18
90 c PLN021 Peeling Skin Syndrome 3 18
91 c MLN074 Melanoma, Cutaneous Malignant 4 17
92 CHR729 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Tempera 15
93 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 24
94 c PLN028 Peeling Skin Syndrome 6 23
95 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 23
96 c PLN025 Peeling Skin Syndrome 5 20
97 CHL049 Childhood Endodermal Sinus Tumor 19
98 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
99 c CRN109 Cranioectodermal Dysplasia 2 38
100 DFF003 Diffuse Scleroderma 37
101 IMM145 Immunodeficiency 11b with Atopic Dermatitis 37
102 MLG038 Malignant Anus Melanoma 31
103 MNN010 Meningeal Melanoma 30
104 MLG061 Malignant Choroid Melanoma 30
105 c PLN024 Peeling Skin Syndrome 4 27
106 MLG062 Malignant Ciliary Body Melanoma 25
107 MLG008 Malignant Breast Melanoma 25
108 MLG070 Malignant Iris Melanoma 23
109 MXD040 Mixed Cell Uveal Melanoma 22
110 HDR007 Hidrotic Ectodermal Dysplasia 2 20
111 c EPD111 Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive 20
112 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 14
113 YLK002 Yolk Sac Tumor of Central Nervous System 13
114 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 13
115 RCT003 Rectum Malignant Melanoma 10
116 P FRN057 Furuncular Myiasis Due to Cordylobia Anthropophaga 10
117 JNS005 Jones Hersh Yusk Syndrome 9
118 c FRN056 Furuncular Myiasis Due to Dermatobia Hominis 8
119 c FRN055 Furuncular Myiasis Due to Cordylobia Rodhaini 7
120 CHR448 Choroid Mixed Cell Melanoma 6
121 DRM062 Dermoid or Epidermoid Cyst of the Central Nervous System 6
122 TNC002 Tinea Capitis 44
123 ICH002 Ichthyosis Bullosa of Siemens 39
124 c WLL037 Weill-Marchesani Syndrome 2 37
125 TNC001 Tinea Cruris 36
126 EPD025 Epidermolysis Bullosa with Pyloric Atresia 35
127 CRP016 Creeping Myiasis 28
128 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
129 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 26
130 LNT002 Lentigo Maligna Melanoma 26
131 CNG503 Congenital Heart Defects and Ectodermal Dysplasia 25
132 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 23
133 c EPD125 Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia 23
134 ECT116 Ectodermal Dysplasia 14, Hair/tooth Type, with or Without Hypohidrosis 22
135 DPD001 Deep Dermatophytosis 18
136 PRC021 Parc Syndrome 18
137 DYS044 Dysmorphism Cleft Palate Loose Skin 14
138 STL004 Stoll Alembik Finck Syndrome 6
139 ONC002 Onchocerciasis 50
140 KWS001 Kwashiorkor 45
141 c ECT114 Ectodermal Dysplasia 10b 20
142 DFF028 Diffuse Leptomeningeal Melanocytosis 19
143 c MLN041 Melanoma, Uveal 2 19
144 c ECT117 Ectodermal Dysplasia 14 14
145 CHR011 Choroid Spindle Cell Melanoma 8
146 c ADL047 Adult Endodermal Sinus Tumor 7
147 CHR031 Chromoblastomycosis 50
148 MCS004 Mucosal Melanoma 46
149 c WLL036 Weill-Marchesani Syndrome 1 44
150 VLV020 Vulvar Melanoma 39
151 WND001 Wound Botulism 38
152 P RST003 Restrictive Dermopathy 36
153 OCL034 Oculocerebrocutaneous Syndrome 34
154 MNN008 Meningeal Melanomatosis 32
155 GLL012 Gallbladder Melanoma 29
156 EPT001 Epithelioid Cell Melanoma 26
157 c OLM004 Olmsted Syndrome 2 25
158 CHL174 Childhood Leptomeningeal Melanoma 22
159 CTN034 Cutaneous Myiasis 19
160 SCR012 Scrotum Melanoma 19
161 INF174 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 19
162 SPN047 Spindle Cell Intraocular Melanoma 19
163 CND003 Candidal Paronychia 19
164 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 19
165 c DRM040 Dermatitis Herpetiformis, Familial 17
166 ECT024 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 14
167 c ICH084 Ichthyosis, Annular Epidermolytic, 2 14
168 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 14
169 RDS002 Red Skin Pigment Anomaly of New Guinea 11
170 ADL009 Adult Leptomeningeal Melanoma 7
171 CLR002 Ciliary Body Spindle Cell Melanoma 7
172 JDG001 Judge Misch Wright Syndrome 6
173 LWR006 Lower Mesodermal Defects Sequence 6
174 UVL002 Uveal Epithelioid Cell Melanoma 6
175 CHR014 Choroid Epithelioid Cell Melanoma 5
176 CHR045 Choroid Necrotic Melanoma 5
177 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 5
178 GNT100 Genetic Epidermal Disorder 4
179 GRR001 Garret Tripp Syndrome 4
180 OTH024 Other Genetic Epidermal Disease 2
181 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 2
182 GNT098 Genetic Epidermal Appendage Anomaly 2
183 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 1
184 CMP010 Complex Regional Pain Syndrome 59
185 c CRB101 Cerebrooculofacioskeletal Syndrome 1 56
186 c CRB098 Cerebrooculofacioskeletal Syndrome 2 41
187 P CRB050 Cerebrooculofacioskeletal Syndrome 41
188 ACN010 Acanthoma 39
189 c CRB100 Cerebrooculofacioskeletal Syndrome 4 37
190 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
191 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 35
192 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 35
193 c CRB099 Cerebrooculofacioskeletal Syndrome 3 33
194 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 33
195 INT379 Integumentary System Disease 29
196 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 28
197 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 27
198 ICH074 Ichthyosis, Lamellar, Autosomal Dominant 26
199 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 20
200 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 19
201 c NNS071 Nonsyndromic Congenital Nail Disorder 18
202 MLN046 Melanoma-Associated Retinopathy 17
203 ECT027 Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate 16
204 ALG003 Al Gazali Aziz Salem Syndrome 16
205 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
206 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 16
207 BDN002 Bednar Tumor 15
208 TBR017 Tuberculin Skin Test Reactivity, Absence of 13
209 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 12
210 NNT043 Neonatal Scleroderma 12
211 TRB003 Trueb Burg Bottani Syndrome 11
212 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 11
213 KRT062 Keratoderma with Woolly Hair 10
214 CSY001 C Syndrome 57
215 MXD005 Mixed Connective Tissue Disease 57
216 TLR001 Tularemia 56
217 P PLY147 Polydactyly, Postaxial, Type A1 54
218 c DWL002 Dowling-Degos Disease 1 51
219 SCB001 Scabies 50
220 c PCH012 Pachyonychia Congenita 2 41
221 c PCH010 Pachyonychia Congenita 3 41
222 MYS004 Myiasis 40
223 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
224 BWN006 Bowen's Disease 39
225 PPL052 Papillomatosis, Confluent and Reticulated 31
226 CMP060 Complement Component 9 Deficiency 30
227 MLR023 Melorheostosis, Isolated 29
228 TNG001 Tungiasis 28
229 c PCH011 Pachyonychia Congenita 4 27
230 TNF001 Tinea Favosa 26
231 EPD004 Epidermolytic Acanthoma 25
232 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 25
233 c DWL003 Dowling-Degos Disease 2 24
234 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 23
235 KRT080 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive 22
236 OVR039 Ovarian Mesodermal Adenosarcoma 21
237 SND006 Sonoda Syndrome 21
238 HLN001 Halo Nevi 20
239 c PLY144 Polydactyly, Postaxial, Type A7 20
240 c ERY072 Erythrokeratodermia Variabilis Et Progressiva 7 19
241 LSS041 Lessel-Kubisch Syndrome 19
242 AQG001 Aquagenic Pruritus 19
243 NCR008 Necrotic Uveal Melanoma 19
244 c PLY178 Polydactyly, Postaxial, Type A8 19
245 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 18
246 c PLY184 Polydactyly, Postaxial, Type A10 18
247 c PLY101 Polydactyly, Postaxial, Type A6 17
248 c PLY163 Polydactyly, Postaxial, Type A2 17
249 PRG149 Progestogen Hypersensitivity 16
250 c PLY182 Polydactyly, Postaxial, Type A9 16
251 c PLY103 Polydactyly, Postaxial, Type A5 16
252 PHC005 Phacomatosis Pigmentokeratotica 15
253 c PLY053 Polydactyly, Postaxial, Type A3 13
254 NNT046 Neonatal Dermatomyositis 13
255 c DWL005 Dowling-Degos Disease 3 13
256 c PLY054 Polydactyly, Postaxial, Type A4 13
257 PTT039 Pituitary Dermoid and Epidermoid Cysts 11
258 DRM047 Dermatoglyphics--Arch on Any Digit 7
259 END012 Endometriosis in Scar of Skin 7
260 IRS001 Iris Spindle Cell Melanoma 6
261 ECT015 Ectodermal Dysplasia Berlin Type 3
262 MLG096 Malignant Melanoma, Childhood 3
263 P CRN038 Carney Complex Variant 62
264 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 59
265 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 50
266 P ANX007 Anauxetic Dysplasia 1 50
267 NCR007 Necrotizing Fasciitis 50
268 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 48
269 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 47
270 P ATM019 Autoimmune Polyendocrine Syndrome 47
271 ANL022 Anal Fistula 45
272 P DPY001 Dupuytren Contracture 44
273 c CRN243 Carney Complex, Type 1 42
274 PTY002 Pityriasis Versicolor 40
275 RNG003 Ring Dermoid of Cornea 39
276 DRC001 Dracunculiasis 38
277 c ANX008 Anauxetic Dysplasia 2 34
278 SPT007 Spitz Nevus 32
279 RTC001 Reticulohistiocytic Granuloma 32
280 P CRV009 Cervix Melanoma 30
281 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 30
282 CHR219 Chromosome 19q13.11 Deletion Syndrome 28
283 MLN002 Melanomatosis 28
284 ARG004 Argyria 26
285 c ANX011 Anauxetic Dysplasia 3 25
286 OVR104 Ovarian Melanoma 22
287 PNC060 Punctate Porokeratosis 21
288 FRN028 Furunculous Myiasis 21
289 DRM046 Dermal Ridges-off-the-End 20
290 MSM018 Mesomelic Limb Shortening and Bowing 19
291 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 19
292 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 19
293 EPD052 Epidermolysis Bullosa Simplex Superficialis 17
294 c CRN298 Carney Complex, Type 2 17
295 CRB223 Cerebellopontine Angle Primitive Neuroectodermal Tumor 17
296 MDS024 Mediastinal Endodermal Sinus Tumors 16
297 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 14
298 ECT104 Ectodermal Dysplasia with Mental Retardation and Syndactyly 14
299 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 14
300 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 14
301 c TNX002 Tnxb-Related Classical-Like Ehlers-Danlos Syndrome 14
302 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 12
303 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 12
304 PSD110 Pseudoatrophoderma Colli 12
305 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 12
306 DFF018 Diffuse Dermal Angiomatosis 12
307 TTR007 Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 12
308 HRY007 Hairy Palms and Soles 11
309 TRC060 Trichoscyphodysplasia 10
310 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
311 ECT096 Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 10
312 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
313 HST020 Histiocytic Dermatoarthritis 9
314 DRM045 Dermal Ridges, Patternless 9
315 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 8
316 DRM044 Dermal Ridges, Nelson Syndrome 8
317 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 7
318 CTK001 Cote Katsantoni Syndrome 7
319 BSR001 Basaran Yilmaz Syndrome 7
320 DRM049 Dermatoglyphics--Fingerprint Pattern 6
321 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 6
322 DRM052 Dermatoglyphics--Hypothenar Radial Arch 6
323 ELL003 Elliott Ludman Teebi Syndrome 5
324 LNR002 Linear Hamartoma Syndrome 5
325 CLR004 Ciliary Body Epithelioid Cell Melanoma 4
326 INT023 Intermediate Cell Type Ciliary Body Melanoma 4
327 MDK001 Madokoro Ohdo Sonoda Syndrome 4
328 GNT091 Genetic Hyperpigmentation of the Skin 4
329 CLR008 Ciliary Body Mixed Cell Melanoma 4
330 IRS002 Iris Mixed Cell Melanoma 4
331 KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4
332 ECT012 Ectodermal Dysplasia Alopecia Preaxial Polydactyly 4
333 DRM048 Dermatoglyphics--Finger Ridge Count 4
334 GNT088 Genetic Skin Vascular Disorder 3
335 GNT097 Genetic Acrokeratoderma 3
336 GNT191 Genetic Skin Tumor or Hamartoma 3
337 GNT092 Genetic Hypopigmentation of the Skin 3
338 GNT095 Genetic Erythrokeratoderma 3
339 GNT193 Genetic Autoinflammatory Syndrome with Skin Involvement 3
340 MSM009 Mesomelic Dysplasia Skin Dimples 2
341 c FML226 Familial Dupuytren Contracture 2
342 DRM018 Dermatocardioskeletal Syndrome Boronne Type 1
343 ECT014 Ectodermal Dysplasia Bartalos Type 1
344 CDK001 Cdk4 Linked Melanoma 1
345 ECT013 Ectodermal Dysplasia Arthrogryposis Diabetes Mellitus 1
346 ECT081 Ectodermal Dysplasia Intellectual Disability Cns Malformation 1
347 SYN017 Syndactyly Ectodermal Dysplasia Cleft Lip Palate Hand Foot 1
348 c CWD006 Cowden Syndrome 1 78
349 c HMC039 Hemochromatosis, Type 1 75
350 P SYS005 Systemic Scleroderma 73
351 MCC012 Mccune-Albright Syndrome 71
352 P CWD010 Cowden Syndrome 68
353 P CCK001 Cockayne Syndrome 67
354 c TYR012 Tyrosinemia, Type I 67
355 BLM001 Bloom Syndrome 66
356 MNK001 Menkes Disease 64
357 KND001 Kindler Syndrome 64
358 P ALC033 Alcohol Use Disorder 64
359 P HRM001 Hermansky-Pudlak Syndrome 63
360 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 62
361 SZR001 Sezary's Disease 61
362 c LPM012 Lipomatosis, Multiple 60
363 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 60
364 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60
365 FLR001 Filarial Elephantiasis 59
366 c PRD039 Periodontitis, Aggressive, 1 59
367 c PSR017 Psoriasis 2 58
368 c BNG091 Benign Chronic Pemphigus 58
369 P TYR004 Tyrosinemia 58
370 P AGG001 Aggressive Periodontitis 57
371 ACN002 Acanthosis Nigricans 57
372 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
373 c HRM005 Hermansky-Pudlak Syndrome 1 57
374 RSC001 Rosacea 57
375 P URT039 Urticaria 57
376 c HMC009 Hemochromatosis Type 2 56
377 P GRS003 Griscelli Syndrome 56
378 c HRM017 Hermansky-Pudlak Syndrome 2 56
379 VCS001 Vici Syndrome 55
380 BRK001 Brooke-Spiegler Syndrome 55
381 c HMC035 Hemochromatosis, Type 4 55
382 P PMP001 Pemphigus 55
383 SML019 Smallpox 55
384 CCT002 Cicatricial Pemphigoid 55
385 LYM029 Lymphedema-Distichiasis Syndrome 54
386 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 54
387 RVS001 Revesz Syndrome 53
388 STF002 Stiff Skin Syndrome 53
389 c TYR013 Tyrosinemia, Type Ii 53
390 P EXN002 Exanthem 52
391 HRT031 Hartnup Disorder 52
392 c LPD021 Lipodystrophy, Familial Partial, Type 3 52
393 MLT145 Multiple Enchondromatosis, Maffucci Type 51
394 PNN001 Panniculitis 51
395 c TRC092 Trichorhinophalangeal Syndrome, Type I 51
396 c CWD008 Cowden Syndrome 6 50
397 RFL001 Reflex Sympathetic Dystrophy 50
398 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 50
399 P ERY036 Erythema Nodosum 50
400 P BLP047 Blepharocheilodontic Syndrome 1 50
401 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 50
402 c HRM009 Hermansky-Pudlak Syndrome 6 50
403 NNT012 Neonatal Jaundice 50
404 c HRM006 Hermansky-Pudlak Syndrome 3 49
405 MYC012 Mycetoma 49
406 OCL039 Oculoectodermal Syndrome 49
407 c PSR028 Psoriasis 7 48
408 P HYP077 Hypertrichosis 48
409 LNT004 Lentigines 48
410 c HRM008 Hermansky-Pudlak Syndrome 5 48
411 c SPL067 Split-Hand/foot Malformation 1 47
412 ANH002 Anhidrosis 47
413 c HRM012 Hermansky-Pudlak Syndrome 9 46
414 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 46
415 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
416 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
417 FLL008 Folliculitis 46
418 AND014 Androgenic Alopecia 46
419 LVD003 Livedoid Vasculitis 46
420 P LPM005 Lipomatosis 46
421 c TYR011 Tyrosinemia, Type Iii 46
422 c SPL024 Split-Hand/foot Malformation 3 45
423 P WHT013 White Sponge Nevus 1 45
424 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
425 GRN007 Granuloma Annulare 45
426 KLD004 Keloid Disorder 45
427 P KRN004 Kernicterus 44
428 HMN048 Human Papillomavirus Infectious Disease 44
429 FSR001 Fusariosis 44
430 PTY001 Pityriasis Rosea 44
431 LSS001 Loiasis 44
432 c CHR708 Chronic Urticaria 44
433 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
434 c HMC021 Hemochromatosis, Type 2a 43
435 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 43
436 LYM094 Lymphedema, Primary, with Myelodysplasia 43
437 ATN014 Autoinflammation with Arthritis and Dyskeratosis 42
438 c HMC019 Hemochromatosis, Type 2b 42
439 c HRM007 Hermansky-Pudlak Syndrome 4 41
440 CHR710 Chronic Spontaneous Urticaria 41
441 c HMC034 Hemochromatosis, Type 5 41
442 HYP457 Hypertrophic Scars 40
443 c GRS012 Griscelli Syndrome, Type 3 40
444 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 40
445 c SPL034 Split-Hand/foot Malformation 4 40
446 c HRM010 Hermansky-Pudlak Syndrome 7 40
447 BLP004 Blepharophimosis 40
448 P SPL061 Split Hand-Foot Malformation 39
449 NNL001 Non-Langerhans-Cell Histiocytosis 39
450 TLG001 Telogen Effluvium 39
451 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 38
452 c HMN027 Hemangioma, Capillary Infantile 38
453 P ENT005 Entropion 38
454 BLL012 Bullous Impetigo 38
455 PRM329 Premature Aging 38
456 c HRM011 Hermansky-Pudlak Syndrome 8 38
457 P SYR003 Syringoma 37
458 PMP010 Pompholyx 37
459 c SPL033 Split-Hand/foot Malformation 6 37
460 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 37
461 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 36
462 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
463 WLL006 Wells Syndrome 36
464 HYP137 Hypotrichosis Simplex 35
465 SCL017 Sclerosing Hemangioma 35
466 LMB008 Limb-Mammary Syndrome 35
467 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
468 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 34
469 PHY008 Physical Urticaria 34
470 ULC005 Ulcer of Lower Limbs 34
471 PLT022 Pili Torti, Early-Onset 33
472 MLR001 Miliaria Rubra 32
473 c ALC016 Alcohol Sensitivity, Acute 32
474 ANH001 Ainhum 31
475 c DYS139 Dyschromatosis Universalis Hereditaria 3 31
476 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 31
477 SLR005 Solar Urticaria 31
478 ECT004 Ecthyma 31
479 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 31
480 SLT013 Salt and Pepper Syndrome 31
481 CHL035 Cholinergic Urticaria 31
482 DGT002 Digital Clubbing, Isolated Congenital 30
483 FLL019 Follicular Mucinosis 30
484 P TRC031 Trichorhinophalangeal Syndrome 30
485 KLD003 Keloid Formation 30
486 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 30
487 c AST055 Asthma-Related Traits 1 30
488 SQM003 Squamous Blepharitis 29
489 MNG001 Mongolian Spot 29
490 c SPL070 Split-Hand/foot Malformation 2 29
491 c LRG002 Large Cell Acanthoma 29
492 IMP001 Impetigo Herpetiformis 28
493 SNL001 Senile Entropion 28
494 CNR001 Coenurosis 28
495 ANN011 Annular Erythema 28
496 LCH004 Lichen Disease 28
497 SPS002 Spastic Entropion 28
498 CRT011 Carotenemia 28
499 c PSR033 Psoriasis 12 27
500 LCH003 Lichen Nitidus 27
501 P CLR001 Clear Cell Acanthoma 27
502 LDW001 Ludwig's Angina 27
503 ANG014 Angiokeratoma of Fordyce 27
504 WRB006 Warburg-Cinotti Syndrome 27
505 CCT001 Cicatricial Ectropion 26
506 c HRM023 Hermansky-Pudlak Syndrome 11 26
507 NDL010 Nodular Hidradenoma 26
508 HMN008 Hemangioma of Subcutaneous Tissue 26
509 CLR013 Clear Cell Hidradenoma 26
510 c HRM020 Hermansky-Pudlak Syndrome 10 26
511 c SPL025 Split-Hand/foot Malformation 5 26
512 RNG030 Ringed Hair 26
513 PSD078 Pseudofolliculitis Barbae 25
514 P HFH002 Hfe Hemochromatosis 25
515 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 25
516 LCH008 Lichen Planus Pigmentosus 25
517 c BLP049 Blepharocheilodontic Syndrome 2 25
518 BSD001 Basidiobolomycosis 25
519 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
520 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
521 ARD001 Aredyld 24
522 c PSR034 Psoriasis 15 24
523 VRL002 Variola Minor 24
524 MDS003 Mediastinal Lipomatosis 24
525 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 24
526 CTN005 Cutaneous Diphtheria 24
527 KYR001 Kyrle Disease 23
528 MLN005 Melanoacanthoma 23
529 c PSR024 Psoriasis 3 23
530 P NNP004 Nonphotosensitive Trichothiodystrophy 23
531 CCT004 Cicatricial Lagophthalmos 23
532 PMP008 Pemphigus Vegetans 23
533 CNT011 Contact Blepharoconjunctivitis 23
534 KNC002 Knuckle Pads 23
535 DFF009 Diffuse Lipomatosis 23
536 CCT003 Cicatricial Entropion 23
537 VLV039 Vulvar Seborrheic Keratosis 23
538 TRC069 Trichilemmal Cyst 1 22
539 VRR008 Verrucous Hemangioma 22
540 SNL004 Senile Ectropion 22
541 c TFR001 Tfr2-Related Hereditary Hemochromatosis 22
542 APC003 Apocrine Adenoma 22
543 c WHT015 White Sponge Nevus 2 22
544 GNR033 Generalized Eruptive Keratoacanthoma 22
545 PRM367 Primary Localized Cutaneous Nodular Amyloidosis 22
546 c UVS003 Uv-Sensitive Syndrome 3 22
547 CHR709 Chronic Inducible Urticaria 22
548 c PSR027 Psoriasis 6 22
549 c CHR686 Chronic Cutaneous Lupus Erythematosus 22
550 GLB011 Glioblastoma Classical Subtype 22
551 13Q001 13q12.3 Microdeletion Syndrome 21
552 ZNC004 Zinc Deficiency, Transient Neonatal 21
553 URT052 Urticaria, Aquagenic 21
554 LPS018 Lupus Erythematosus Panniculitis 21
555 PHK008 Phakomatosis Cesioflammea 21
556 c PSR031 Psoriasis 10 21
557 MCH001 Mechanical Ectropion 21
558 OTN001 Otoonychoperoneal Syndrome 21
559 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 21
560 c INT047 Internal Hordeolum 21
561 c PSR029 Psoriasis 9 20
562 BNG069 Benign Cephalic Histiocytosis 20
563 c RRH023 Rare Hereditary Hemochromatosis 20
564 MLR025 Miliaria Profunda 20
565 OCL057 Oculotrichodysplasia 20
566 TLN013 Telangiectasia Macularis Eruptive Perstans 20
567 DSC014 Discoid Fibromas, Familial Multiple 20
568 TRC052 Trichofolliculoma 20
569 INF022 Inflamed Seborrheic Keratosis 20
570 PTY005 Pityriasis Lichenoides Chronica 20
571 c TRC128 Trichothiodystrophy 9, Nonphotosensitive 19
572 CNJ004 Conjunctival Pigmentation 19
573 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 19
574 PMP013 Pemphigus Gestationis 19
575 ERY050 Erythema Palmare Hereditarium 19
576 ELS004 Elastofibroma Dorsi 19
577 PPL038 Papular Xanthoma 19
578 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 18
579 ATR052 Atrophic Lichen Planus 18
580 MLR026 Miliaria Crystallina 18
581 PRM233 Primary Cutaneous Plasmacytosis 17
582 PPL027 Papular Urticaria 17
583 ICH082 Ichthyosis Hystrix, Lambert Type 17
584 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
585 c INH022 Inherited Ichthyosis 16
586 ANT063 Anti-P200 Pemphigoid 16
587 RCH009 Roch-Leri Mesosomatous Lipomatosis 16
588 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 16
589 ULC003 Ulcerative Blepharitis 16
590 ANN013 Annular Atrophic Lichen Planus 15
591 PLT010 Pili Torti Onychodysplasia 15
592 GNT041 Genetic Lipodystrophy 15
593 ONY005 Onychomatricoma 15
594 CNG238 Congenital Panfollicular Nevus 15
595 c PPL045 Papular Mucinosis of Infancy 15
596 ACR080 Acral Persistent Papular Mucinosis 14
597 ONY004 Onychocytic Matricoma 14
598 c ERY057 Erythema Nodosum, Familial 14
599 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
600 PLG007 Pili Gemini 14
601 BLL014 Bullous Diffuse Cutaneous Mastocytosis 14
602 c AST032 Asthma-Related Traits 7 14
603 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 13
604 CRH002 Crohn's Disease of the Esophagus 13
605 CHR175 Chromhidrosis 13
606 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 13
607 ODN004 Odonto Onycho Dysplasia with Alopecia 13
608 PRR034 Pruritus, Hereditary Localized 12
609 MLR024 Miliaria Pustulosa 12
610 c SYR009 Syringomas, Multiple 11
611 CLC050 Calciphylaxis Cutis 11
612 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 11
613 ONY006 Onychodystrophy-Anonychia 11
614 CLS058 Classic Eosinophilic Pustular Folliculitis 11
615 PYR042 Pyramidal Molars-Abnormal Upper Lip Syndrome 10
616 DDY001 Didymosis Aplasticosebacea 10
617 DCT001 Dioctophymiasis 10
618 SCR010 Scrotal Angioma 9
619 FBR005 Fibroepithelial Polyp of Urethra 9
620 P KRT059 Keratosis Palmoplantaris Striata 9
621 ANG010 Angular Blepharoconjunctivitis 9
622 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
623 ANG056 Angora Hair Nevus 9
624 NDL019 Nodular Lichen Myxedematosus 9
625 CDN004 Cadins Disease 8
626 c PRD018 Periodontitis, Aggressive, 2 8
627 c KRN003 Kernicterus Due to Isoimmunization 8
628 MCH004 Mechanical Entropion 7
629 CNF001 Confetti-Like Macular Atrophy 7
630 NDL018 Nodular Urticaria Pigmentosa 7
631 SPS001 Spastic Ectropion 7
632 CHL020 Cholesteatoma of Attic 7
633 FRG002 Ferguson-Smith Tumor 6
634 P DRM064 Dermis Elastic Tissue Disorder 6
635 c ACQ061 Acquired Dermis Elastic Tissue Disorder 6
636 DRM063 Dermis Disorder 6
637 c RRR007 Rare Urticaria 6
638 STR006 Stromal Corneal Pigmentation 6
639 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 5
640 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 5
641 STR010 Steroid Lipomatosis 5
642 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 5
643 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 5
644 c RRD053 Rare Disorder with Hypertrichosis 5
645 PLQ001 Plaque-Form Urticaria Pigmentosa 5
646 TYP022 Typical Urticaria Pigmentosa 5
647 VRR005 Verrucous Nevus Acanthokeratolytic 5
648 SYN139 Syndromic Nail Anomaly 4
649 c RRD046 Rare Disorder with Entropion 4
650 ACQ062 Acquired Dermis Elastic Tissue Disorder with Increased Elastic Tissue 4
651 ATS442 Autosomal Ichthyosis Syndrome with Fatal Disease Course 3
652 ISL150 Isolated Hair Shaft Abnormality 3
653 INH027 Inherited Ichthyosis Syndromic Form 3
654 c MLN043 Melanoma, Cutaneous Malignant 8 43
655 MLN001 Melanotic Neuroectodermal Tumor 27
656 c MLN067 Melanoma, Cutaneous Malignant 2 29
657 c MLN075 Melanoma, Cutaneous Malignant 3 27
658 c MLN077 Melanoma, Cutaneous Malignant 9 23
659 c MLN076 Melanoma, Cutaneous Malignant 5 22
660 c MLN042 Melanoma, Cutaneous Malignant 6 21
661 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 13
662 DGS008 Digestive System Melanoma 16
663 SQM006 Squamous Cell Carcinoma 57
664 CNT029 Central Nervous System Endodermal Sinus Tumor 7
665 DRM050 Dermographism, Familial 29
666 c MLN040 Melanoma, Cutaneous Malignant 7 18
667 P MDL005 Medulloblastoma 76
668 c ADL023 Adult Medulloblastoma 40
669 c MLN055 Melanoma, Cutaneous Malignant 10 26
670 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 24
671 ECT115 Ectodermal Dysplasia and Immune Deficiency 11
672 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
673 CLR017 Clear Cell Sarcoma 46
674 KSK002 Kosaki Overgrowth Syndrome 36
675 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27
676 RTN010 Retinal Melanoma 27
677 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 14
678 c PRM047 Primary Malignant Melanoma of the Cervix 12
679 P END039 Endodermal Sinus Tumor 44
680 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
681 ECT113 Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies 22
682 CNG091 Congenital Ectodermal Dysplasia with Hearing Loss 7
683 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
684 DSN001 De Sanctis-Cacchione Syndrome 50
685 SPR008 Supratentorial Primitive Neuroectodermal Tumor 41
686 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 41
687 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
688 SPN025 Spinal Cord Melanoma 28
689 INT022 Intracranial Primitive Neuroectodermal Tumor 19
690 RRG043 Rare Genetic Skin Disease 18
691 SPN045 Spinal Cord Primitive Neuroectodermal Neoplasm 17
692 c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 16
693 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 15
694 CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 14
695 DNT019 Daentl Towsend Siegel Syndrome 14
696 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
697 BLL001 Baller-Gerold Syndrome 60
698 IMM066 Immunodeficiency 9 44
699 P TTH010 Tooth Agenesis, Selective, 1 37
700 c TTH013 Tooth Agenesis, Selective, 4 31
701 c TTH012 Tooth Agenesis, Selective, 3 24
702 c TTH026 Tooth Agenesis, Selective, 7 19
703 c TTH027 Tooth Agenesis, Selective, 8 18
704 c TTH025 Tooth Agenesis, Selective, 9 18
705 c TTH011 Tooth Agenesis, Selective, 2 13
706 c TTH017 Tooth Agenesis, Selective, 5 11
707 c HRD010 Hereditary Spastic Paraplegia 68
708 P CNN005 Connective Tissue Disease 67
709 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
710 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
711 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
712 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
713 P CPL006 Capillary Hemangioma 51
714 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
715 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
716 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
717 c HRD227 Hereditary Spastic Paraplegia 35 50
718 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
719 VLV034 Vulva Squamous Cell Carcinoma 49
720 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
721 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
722 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
723 MYX013 Myxofibrosarcoma 46
724 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
725 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
726 MND023 Mend Syndrome 45
727 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
728 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
729 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
730 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
731 c HRD220 Hereditary Spastic Paraplegia 30 45
732 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
733 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
734 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
735 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
736 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
737 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
738 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
739 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
740 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
741 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
742 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
743 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
744 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
745 CPL002 Capillary Lymphangioma 42
746 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
747 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
748 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
749 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
750 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
751 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
752 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
753 CNJ018 Conjunctival Squamous Cell Carcinoma 40
754 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
755 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
756 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
757 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
758 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
759 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
760 SQM002 Squamous Cell Papilloma 38
761 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
762 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
763 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
764 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
765 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 36
766 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
767 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
768 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
769 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
770 c HRD229 Hereditary Spastic Paraplegia 56 35
771 c SPS092 Spastic Paraplegia 11 35
772 P TRC095 Trichoepithelioma, Multiple Familial, 1 34
773 TST018 Testicular Yolk Sac Tumor 34
774 P SPS012 Spastic Paraplegia 3a 34
775 c HRD226 Hereditary Spastic Paraplegia 49 33
776 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
777 c SPS025 Spastic Paraplegia 15 32
778 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
779 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
780 YSY001 Yao Syndrome 31
781 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
782 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
783 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
784 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
785 OLG005 Oligodontia-Colorectal Cancer Syndrome 30
786 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
787 c HRD186 Hereditary Spastic Paraplegia 51 29
788 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
789 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
790 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
791 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
792 c HRD188 Hereditary Spastic Paraplegia 72 29
793 c SPS091 Spastic Paraplegia 4 29
794 c SPS013 Spastic Paraplegia 8 28
795 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
796 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
797 CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 26
798 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 24
799 c HRD210 Hereditary Spastic Paraplegia 23 24
800 CNT115 Central Nervous System Embryonal Tumor 24
801 c SPS042 Spastic Paraplegia 9 24
802 c SPS230 Spastic Paraplegia Type 49 23
803 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
804 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
805 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
806 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
807 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
808 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
809 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
810 c TRC094 Trichoepithelioma, Multiple Familial, 2 15
811 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
812 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
813 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
814 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
815 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
816 c RRH035 Rare Hereditary Connective Tissue Disease 8
817 c SPS040 Spastic Paraplegia 5b 7
818 P BRS047 Breast Cancer 97
819 P CRD224 Cardiofaciocutaneous Syndrome 1 70
820 P CMR001 Camurati-Engelmann Disease 60
821 ESP027 Esophagus Squamous Cell Carcinoma 58
822 HYP458 Hyper Ige Syndrome 56
823 MMM001 Mammary Paget's Disease 54
824 FTL075 Fetal Encasement Syndrome 53
825 c HRD117 Hereditary Breast Cancer 52
826 c INF023 Inflammatory Breast Carcinoma 51
827 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 48
828 ALB002 Albinism 47
829 c BRS049 Breast Carcinoma in Situ 47
830 P PRN020 Paranasal Sinus Cancer 45
831 P OCL001 Ocular Albinism 43
832 OST014 Osteopoikilosis 43
833 c SPR009 Sporadic Breast Cancer 42
834 c ALB024 Albinism, Ocular, Type I 41
835 KRT003 Keratinizing Squamous Cell Carcinoma 41
836 ANG065 Angioma, Tufted 40
837 P PRM018 Primary Hypertrophic Osteoarthropathy 40
838 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 39
839 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 39
840 c SCN005 Secondary Hypertrophic Osteoarthropathy 38
841 ANL017 Anal Squamous Cell Carcinoma 38
842 c CRD164 Cardiofaciocutaneous Syndrome 3 35
843 PPL004 Papillary Squamous Carcinoma 34
844 c CRD167 Cardiofaciocutaneous Syndrome 4 33
845 c CRD163 Cardiofaciocutaneous Syndrome 2 32
846 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 29
847 GLT004 Glottis Squamous Cell Carcinoma 29
848 ICH035 Ichthyosis, Hystrix-Like, with Deafness 29
849 SCR017 Scrotum Neoplasm 28
850 TCH005 Tièche-Jadassohn Nevus 28
851 CRB002 Cerebral Primitive Neuroectodermal Tumor 27
852 HYP481 Hyperbiliverdinemia 26
853 GLL015 Gallbladder Squamous Cell Carcinoma 26
854 CRV036 Cervical Carcinosarcoma 26
855 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 25
856 THY089 Thymic Epithelial Neoplasm 25
857 MXL004 Maxillary Sinus Squamous Cell Carcinoma 23
858 c CMR006 Camurati-Engelmann Disease, Type 2 23
859 URT021 Ureter Squamous Cell Carcinoma 21
860 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 18
861 SPR023 Supraglottis Squamous Cell Carcinoma 17
862 FRN005 Frontal Sinus Squamous Cell Carcinoma 16
863 TRC017 Trachea Squamous Cell Carcinoma 15
864 SNR002 Sener Syndrome 15
865 HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 13
866 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
867 ECT097 Ectodermal Dysplasia with Adrenal Cyst 12
868 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
869 CRN001 Cornea Squamous Cell Carcinoma 10
870 URT034 Urethra Squamous Cell Carcinoma 10
871 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 10
872 IMM023 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 10
873 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 9
874 MLN068 Melanoma, Malignant Familial Intraocular 9
875 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
876 SFT001 Soft Tissue Peripheral Neuroepithelioma 9
877 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 8
878 SBG004 Subglottis Squamous Cell Carcinoma 7
879 PRM048 Primary Malignant Melanoma of the Conjunctiva 6
880 MLN017 Milner Khallouf Gibson Syndrome 5
881 KZN001 Kuzniecky Andermann Syndrome 4
882 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
883 GNT085 Genetic Immune Deficiency with Skin Involvement 4
884 RRD016 Rare Developmental Defect with Skin/mucosae Involvement 4
885 c PRN030 Paranasal Sinus Cancer, Adult 3
886 EPD081 Epidermoid Brain Cyst 3
887 c SYS001 Systemic Lupus Erythematosus 87
888 P ART067 Aortic Aneurysm, Familial Thoracic 1 81
889 c FNC027 Fanconi Anemia, Complementation Group a 80
890 P NNN008 Noonan Syndrome 1 76
891 BSL036 Basal Cell Nevus Syndrome 74
892 CHD001 Chediak-Higashi Syndrome 69
893 c FNC043 Fanconi Anemia, Complementation Group E 68
894 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 67
895 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 67
896 SKN016 Skin Disease 67
897 c CNG411 Congenital Disorder of Glycosylation, Type in 67
898 c HRD002 Hereditary Angioedema 66
899 NVS017 Nevus, Epidermal 65
900 GRN037 Granulomatosis with Polyangiitis 65
901 c ART028 Aortic Aneurysm, Familial Thoracic 4 65
902 P BTH005 Bethlem Myopathy 1 64
903 P PRT008 Proteus Syndrome 63
904 P SHR029 Short Syndrome 63
905 NNN026 Noonan Syndrome with Multiple Lentigines 63
906 c LPD015 Lipodystrophy, Familial Partial, Type 2 63
907 GRG001 Greig Cephalopolysyndactyly Syndrome 63
908 c SCL052 Scleroderma, Familial Progressive 62
909 c PSR021 Psoriasis 14, Pustular 62
910 DRM006 Dermatitis 62
911 DRR014 Darier-White Disease 61
912 DCB001 Decubitus Ulcer 61
913 c LCL006 Localized Scleroderma 61
914 P LPS004 Lupus Erythematosus 61
915 P SYP003 Syphilis 60
916 GRN051 Granulomatous Disease, Chronic, X-Linked 59
917 OCC006 Occipital Horn Syndrome 59
918 DYS164 Dyskeratosis Congenita, X-Linked 59
919 CTN007 Cutaneous Leishmaniasis 59
920 ADL030 Adult-Onset Still's Disease 59
921 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
922 c ANG070 Angioedema, Hereditary, 1 59
923 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 59
924 PLM102 Palmoplantar Keratoderma, Epidermolytic 58
925 c FNC042 Fanconi Anemia, Complementation Group D2 58
926 c MLG084 Malignant Fibrous Histiocytoma 57
927 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57
928 c PSR032 Psoriasis 11 57
929 P JNC001 Junctional Epidermolysis Bullosa 57
930 P FNC044 Fanconi Anemia, Complementation Group C 56
931 P ALP008 Alopecia 56
932 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
933 c PSR023 Psoriasis 1 55
934 PRP030 Purpura 55
935 c WRD033 Waardenburg Syndrome, Type 2e 55
936 CNT047 Contact Dermatitis 55
937 CHR100 Chronic Ulcer of Skin 55
938 HDR002 Hidradenitis Suppurativa 55
939 ICH001 Ichthyosis Vulgaris 55
940 P PRK001 Porokeratosis 55
941 P ANG015 Angioedema 55
942 P DRM007 Dermatitis Herpetiformis 55
943 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 54
944 P HMR005 Hemorrhoid 54
945 P PRP056 Porphyria, Acute Hepatic 54
946 P LCH002 Lichen Planus 54
947 c EPD115 Epidermolysis Bullosa, Junctional 1b, Severe 54
948 P EPD016 Epidermolysis Bullosa 54
949 c FNC024 Fanconi Anemia, Complementation Group D1 54
950 P ICH004 Ichthyosis 54
951 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 54
952 c FNC029 Fanconi Anemia, Complementation Group I 54
953 P FML012 Familial Partial Lipodystrophy 54
954 c FNC045 Fanconi Anemia, Complementation Group F 53
955 HYP691 Hypomelanosis of Ito 53
956 P NLD001 Nail Disease 53
957 P RCS002 Recessive Dystrophic Epidermolysis Bullosa 53
958 c FNC025 Fanconi Anemia, Complementation Group J 53
959 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
960 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
961 ADL104 Adult T-Cell Leukemia/lymphoma 52
962 PRN014 Paronychia 52
963 c NNN010 Noonan Syndrome 3 52
964 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
965 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 52
966 c EPD114 Epidermolysis Bullosa, Junctional 1a, Intermediate 51
967 c DRM054 Dermatitis, Atopic, 2 51
968 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
969 PYD002 Pyoderma 51
970 BLP005 Blepharitis 51
971 KRT009 Keratosis 51
972 c PSR018 Psoriasis 13 51
973 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 51
974 c FNC032 Fanconi Anemia, Complementation Group B 50
975 SND002 Sneddon Syndrome 50
976 CLC001 Calciphylaxis 50
977 c FNC028 Fanconi Anemia, Complementation Group L 50
978 HDR003 Hidradenitis 50
979 PMP014 Pemphigoid 50
980 TNP001 Tinea Pedis 50
981 GCH018 Gaucher Disease, Perinatal Lethal 50
982 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
983 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 49
984 EPD098 Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation 49
985 P ACT008 Actinic Keratosis 49
986 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
987 WRS002 Warsaw Breakage Syndrome 49
988 PST011 Pustulosis of Palm and Sole 49
989 c FNC048 Fanconi Anemia, Complementation Group O 48
990 ERY004 Erysipelas 48
991 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
992 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
993 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
994 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 48
995 P PHT010 Photoparoxysmal Response 1 47
996 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
997 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
998 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
999 c FNC030 Fanconi Anemia, Complementation Group G 47
1000 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1001 c FNC023 Fanconi Anemia, Complementation Group N 47
1002 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1003 c ANG071 Angioedema, Hereditary, 3 47
1004 IMP004 Impetigo 46
1005 P CTN003 Cutaneous Lupus Erythematosus 46
1006 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1007 MLT018 Multiple Carboxylase Deficiency 46
1008 CTN011 Cutaneous Porphyria 46
1009 HNN001 Hennekam Syndrome 46
1010 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1011 SBC012 Subcorneal Pustular Dermatosis 46
1012 P PLL002 Pellagra 46
1013 ADP001 Adiposis Dolorosa 46
1014 PGM003 Pigmentation Disease 46
1015 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1016 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1017 NCR002 Necrobiosis Lipoidica 45
1018 ANG062 Angioosteohypertrophic Syndrome 45
1019 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 45
1020 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1021 PYG006 Pyogenic Granuloma 45
1022 P SBR004 Seborrheic Dermatitis 45
1023 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44
1024 EPD103 Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia 44
1025 SKN023 Skin Tag 44
1026 SKN006 Skin Sarcoidosis 44
1027 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 44
1028 FNT005 Fontaine Progeroid Syndrome 44
1029 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 44
1030 c LPD034 Lipodystrophy, Familial Partial, Type 4 44
1031 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1032 SPR005 Superficial Basal Cell Carcinoma 44
1033 P PST059 Pustular Psoriasis 44
1034 c FNC047 Fanconi Anemia, Complementation Group Q 44
1035 c LPD019 Lipodystrophy, Partial, Acquired 44
1036 WNC001 Winchester Syndrome 44
1037 c SHR030 Short Qt Syndrome 44
1038 P ECT005 Ectropion 44
1039 c NNN009 Noonan Syndrome 2 44
1040 c SYS043 Systemic Lupus Erythematosus 1 44
1041 P FBR003 Fibrous Histiocytoma 43
1042 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 43
1043 WDM005 Wiedemann-Rautenstrauch Syndrome 43
1044 CSL001 Causalgia 43
1045 ATR013 Atrichia with Papular Lesions 43
1046 RTT001 Ritter's Disease 43
1047 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1048 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1049 EPD070 Epidermoid Cysts 42
1050 CRB016 Carbuncle 42
1051 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1052 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1053 c NNN012 Noonan Syndrome 5 42
1054 BLR027 Blue Rubber Bleb Nevus 42
1055 c CNG033 Congenital Syphilis 42
1056 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
1057 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 42
1058 P HRD018 Hair Disease 42
1059 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1060 c PLN018 Peeling Skin Syndrome 2 41
1061 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1062 c FNC052 Fanconi Anemia, Complementation Group T 41
1063 c PRK082 Porokeratosis 1, Multiple Types 41
1064 c FNC058 Fanconi Anemia, Complementation Group R 41
1065 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 41
1066 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1067 C1Q001 C1q Deficiency 40
1068 c NNN021 Noonan Syndrome 8 40
1069 IGP001 Iga Pemphigus 40
1070 c ALP076 Alopecia-Mental Retardation Syndrome 1 40
1071 c FML294 Familial Short Qt Syndrome 40
1072 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
1073 c NNN011 Noonan Syndrome 4 40
1074 ATN011 Autoinflammation with Infantile Enterocolitis 40
1075 c ACQ012 Acquired Angioedema 40
1076 SKN005 Skin Atrophy 40
1077 P GRN010 Granular Cell Tumor 40
1078 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1079 c FNC057 Fanconi Anemia, Complementation Group U 40
1080 HYP267 Hyperchlorhidrosis, Isolated 40
1081 c LPD036 Lipodystrophy, Familial Partial, Type 6 40
1082 P STR021 Struma Ovarii 39
1083 JNC005 Junctional Epidermolysis Bullosa Non-Herlitz Type 39
1084 DSC009 Discoid Lupus Erythematosus 39
1085 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 39
1086 c SYS061 Systemic Lupus Erythematosus 16 39
1087 ERY002 Erythema Infectiosum 39
1088 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
1089 c NNN020 Noonan Syndrome 7 38
1090 CTN033 Cutaneous Candidiasis 38
1091 PRS063 Paresthesia 38
1092 c FNC046 Fanconi Anemia, Complementation Group P 38
1093 KRT047 Keratosis Pilaris Atrophicans 37
1094 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
1095 BLP006 Blepharoconjunctivitis 37
1096 EPD022 Epidermolysis Bullosa Pruriginosa 37
1097 P YWS001 Yaws 37
1098 SBC017 Sebaceous Gland Disease 37
1099 c BTH006 Bethlem Myopathy 2 37
1100 P BLL007 Bullous Skin Disease 37
1101 c SCN006 Secondary Syphilis 37
1102 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1103 c NNN025 Noonan Syndrome 10 36
1104 ACN003 Acneiform Dermatitis 36
1105 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 36
1106 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1107 LSN002 Loose Anagen Hair Syndrome 36
1108 c LPD030 Lipodystrophy, Familial Partial, Type 5 36
1109 c VRL008 Viral Exanthem 36
1110 c EPD113 Epidermolysis Bullosa Simplex Generalized Type 36
1111 c NNN013 Noonan Syndrome 6 36
1112 P FML333 Familial Behcet-Like Autoinflammatory Syndrome 36
1113 HST022 Histiocytoma, Angiomatoid Fibrous 36
1114 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 36
1115 PLN001 Plantar Wart 35
1116 MBM001 Meibomian Cyst 35
1117 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1118 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
1119 c FNC056 Fanconi Anemia, Complementation Group V 35
1120 EMY001 Eumycotic Mycetoma 35
1121 c SBC035 Subacute Cutaneous Lupus Erythematosus 35
1122 DRM008 Dermatographia 35
1123 MLR009 Miliaria 35
1124 c SBR001 Seborrheic Infantile Dermatitis 34
1125 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 34
1126 BSS001 Basosquamous Carcinoma 34
1127 HDR001 Hidrocystoma 34
1128 c PRK080 Porokeratosis 3, Multiple Types 34
1129 c RNG029 Ring Chromosome 14 Syndrome 34
1130 ELS002 Elastosis Perforans Serpiginosa 34
1131 VLV002 Vulva Basal Cell Carcinoma 34
1132 c MLG059 Malignant Struma Ovarii 34
1133 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1134 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 34
1135 SWT003 Sweat Gland Disease 34
1136 VRL003 Variola Major 34
1137 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 34
1138 c NNN024 Noonan Syndrome 9 33
1139 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 33
1140 c NNN034 Noonan Syndrome 12 33
1141 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 33
1142 P UNC017 Uncombable Hair Syndrome 1 33
1143 ANG007 Angiokeratoma Circumscriptum 33
1144 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
1145 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 33
1146 c RNG008 Ring Chromosome 13 33
1147 PRT094 Protoporphyria, Erythropoietic, X-Linked 33
1148 KND005 Kindler Epidermolysis Bullosa 33
1149 DRM009 Dermatomycosis 33
1150 GRN003 Granulomatous Dermatitis 33
1151 P ATS411 Autosomal Dominant Epidermolytic Ichthyosis 33
1152 c RNG023 Ring Chromosome 7 33
1153 c FML324 Familial Porphyria Cutanea Tarda 32
1154 c RNG018 Ring Chromosome 22 32
1155 ALP048 Alopecia Totalis 32
1156 c PRM022 Primary Syphilis 32
1157 PMP009 Pemphigus Erythematosus 31
1158 c NNN036 Noonan Syndrome 13 31
1159 c PRM374 Primary Cutaneous Gamma-Delta T-Cell Lymphoma 31
1160 CTN010 Cutaneous Ganglioneuroma 31
1161 CNT001 Contagious Pustular Dermatitis 31
1162 c LTC001 Late Congenital Syphilis 31
1163 VRS002 Virus-Associated Trichodysplasia Spinulosa 31
1164 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 31
1165 c RNG017 Ring Chromosome 21 31
1166 c DRM059 Dermatitis, Atopic, 7 31
1167 PRR013 Prurigo Nodularis 31
1168 FCL003 Facial Hemiatrophy 30
1169 SPN011 Spongiotic Dermatitis 30
1170 c INT059 Internal Hemorrhoid 30
1171 c RNG004 Ring Chromosome 1 30
1172 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 30
1173 ACR097 Acrodermatitis Chronica Atrophicans 30
1174 c FNC062 Fanconi Anemia, Complementation Group S 30
1175 c NNN029 Noonan Syndrome 11 30
1176 c PRT063 Proteus-Like Syndrome 30
1177 MTH082 Methemoglobinemia and Ambiguous Genitalia 30
1178 FXD003 Fixed Drug Eruption 30
1179 PHC006 Phacomatosis Pigmentovascularis 30
1180 c SHR032 Short Qt Syndrome 2 30
1181 c SHR033 Short Qt Syndrome 3 29
1182 c ART071 Aortic Aneurysm, Familial Thoracic 6 29
1183 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 29
1184 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 29
1185 c WRD026 Waardenburg Syndrome, Type 2c 29
1186 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 29
1187 c ART105 Aortic Aneurysm, Familial Thoracic 7 29
1188 c RNG022 Ring Chromosome 6 29
1189 c RNG007 Ring Chromosome 12 29
1190 c PSR025 Psoriasis 4 29
1191 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 29
1192 EPD105 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with Bp230 Deficiency 29
1193 QNQ002 Quinquaud Folliculitis Decalvans 29
1194 c MLG036 Malignant Spiradenoma 29
1195 CHR588 Chromosome 8q22.1 Duplication Syndrome 29
1196 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
1197 KRT079 Keratosis Pilaris Atrophicans Faciei 29
1198 LCH014 Lichen Amyloidosis 29
1199 CHR463 Chronic Actinic Dermatitis 29
1200 ATM016 Autoimmune Disease of Skin and Connective Tissue 29
1201 c RNG020 Ring Chromosome 4 28
1202 PHT003 Phototoxic Dermatitis 28
1203 HRD090 Harderoporphyria 28
1204 CHN019 Chand Syndrome 28
1205 c ART134 Aortic Aneurysm, Familial Thoracic 10 28
1206 HRY005 Hairy Elbows 28
1207 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1208 c RNG024 Ring Chromosome 8 28
1209 c RNG005 Ring Chromosome 10 28
1210 c ERL002 Early Congenital Syphilis 28
1211 LDD006 Ledderhose Disease 28
1212 FCL001 Facial Dermatosis 28
1213 c AST034 Asthma-Related Traits 4 28
1214 c PSR026 Psoriasis 5 28
1215 P DRM012 Dermis Tumor 28
1216 CBB002 Cobb Syndrome 28
1217 c PRK075 Porokeratosis 7, Multiple Types 28
1218 P ACN016 Acne Inversa, Familial, 3 28
1219 FCL029 Focal Palmoplantar Keratoderma 28
1220 ICH062 Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 28
1221 ATN027 Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 28
1222 EPD102 Epidermolysis Bullosa Simplex 2e, with Migratory Circinate Erythema 27
1223 c LPD044 Lipodystrophy, Familial Partial, Type 7 27
1224 c UVS005 Uv-Sensitive Syndrome 1 27
1225 P AST056 Asthma-Related Traits 2 27
1226 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1227 BLP001 Blepharochalasis 27
1228 PRL006 Paralytic Lagophthalmos 27
1229 VRR003 Verruciform Xanthoma of Skin 27
1230 c ERL004 Early Yaws 27
1231 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 27
1232 c SHR031 Short Qt Syndrome 1 27
1233 PTY007 Pityriasis Rotunda 27
1234 c ACN018 Acne Inversa, Familial, 1 27
1235 TNM002 Tinea Manuum 27
1236 P RNG032 Ring Chromosome 27
1237 c INH031 Inherited Epidermolysis Bullosa 27
1238 SCL001 Scalp Dermatosis 27
1239 LCH013 Lichen Planus Pemphigoides 26
1240 FCL088 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome 26
1241 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 26
1242 EPD101 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 26
1243 CRM013 Ceruminous Adenocarcinoma 26
1244 P PNC113 Punctate Palmoplantar Keratoderma 26
1245 c RNG013 Ring Chromosome 18 26
1246 FXF002 Fox-Fordyce Disease 26
1247 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
1248 P FML337 Familial Chilblain Lupus 26
1249 INV005 Inverted Follicular Keratosis 26
1250 c JVN011 Juvenile Dermatitis Herpetiformis 26
1251 DRM003 Dermatosis Papulosa Nigra 26
1252 c MLG167 Malignant Inflammatory Fibrous Histiocytoma 26
1253 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1254 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1255 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 25
1256 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1257 c FNC061 Fanconi Anemia, Complementation Group W 25
1258 MLG032 Malignant Granular Cell Myoblastoma 25
1259 LTH053 Lethal Restrictive Dermopathy 25
1260 HYP181 Hypertrichosis Lanuginosa, Acquired 25
1261 c RNG010 Ring Chromosome 15 25
1262 INT389 Intellectual Developmental Disorder with Seizures and Language Delay 25
1263 c RNG016 Ring Chromosome 20 25
1264 ERY010 Erythrasma 25
1265 c ART107 Aortic Aneurysm, Familial Thoracic 8 25
1266 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 25
1267 TBS009 Teebi-Shaltout Syndrome 25
1268 c ALP099 Alopecia, Congenital 25
1269 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1270 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
1271 ART037 Arthrogryposis and Ectodermal Dysplasia 24
1272 c CNG022 Congenital Granular Cell Tumor 24
1273 ANG006 Angiokeratoma of Mibelli 24
1274 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1275 MRN005 Marie Unna Congenital Hypotrichosis 24
1276 c NNN038 Noonan Syndrome 14 24
1277 CLL039 Collagenosis, Familial Reactive Perforating 24
1278 c ATN028 Autoinflammatory Syndrome, Familial, Behcet-Like 1 24
1279 TNB001 Tinea Barbae 24
1280 c RNG006 Ring Chromosome 11 24
1281 NCR009 Necrobiotic Xanthogranuloma 24
1282 c FML348 Familial Pityriasis Rubra Pilaris 24
1283 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 24
1284 BLL009 Bullous Dystrophy Hereditary Macular Type 24
1285 c SYS081 Systemic Lupus Erythematosus 17 24
1286 GNR023 Generalized Eruptive Histiocytosis 23
1287 FLL042 Folliculotropic Mycosis Fungoides 23
1288 c RNG015 Ring Chromosome 2 23
1289 c CHL114 Chilblain Lupus 2 23
1290 CRM002 Ceruminoma 23
1291 ACH007 Achenbach Syndrome 23
1292 GTT002 Guttate Psoriasis 23
1293 ERY005 Erythematosquamous Dermatosis 23
1294 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 23
1295 c PRM301 Primary Cutaneous T-Cell Lymphoma 23
1296 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 23
1297 c RNG019 Ring Chromosome 3 23
1298 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1299 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 23
1300 c ANG072 Angioedema, Hereditary, 4 23
1301 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 23
1302 c ART118 Aortic Aneurysm, Familial Thoracic 9 23
1303 CLL041 Collagenoma, Familial Cutaneous 23
1304 PRL042 Proliferating Trichilemmal Cyst 23
1305 c RNG025 Ring Chromosome 9 22
1306 FLL020 Follicular Infundibulum Tumor 22
1307 c RNG021 Ring Chromosome 5 22
1308 GRW032 Growth Factors, Combined Defect of 22
1309 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
1310 c SYS040 Systemic Lupus Erythematosus 10 22
1311 BLL015 Bullous Lichen Planus 22
1312 PSD043 Pseudopelade of Brocq 22
1313 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 22
1314 c BNG029 Benign Struma Ovarii 22
1315 HYP641 Hypotrichosis Simplex of the Scalp 22
1316 LNT008 Lentiginosis, Inherited Patterned 22
1317 ACQ008 Acquired Hyperkeratosis 22
1318 ORL022 Oral Erosive Lichen 22
1319 c SYS038 Systemic Lupus Erythematosus 2 22
1320 c RNG012 Ring Chromosome 17 22
1321 c SYS069 Systemic Lupus Erythematosus 6 22
1322 c ART133 Aortic Aneurysm, Familial Thoracic 11 21
1323 HYP046 Hypopigmentation of Eyelid 21
1324 ECC005 Eccrine Adenocarcinoma 21
1325 c PSR030 Psoriasis 8 21
1326 HYP182 Hypertrichosis, Anterior Cervical 21
1327 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 21
1328 c ART068 Aortic Aneurysm, Familial Thoracic 2 21
1329 c ART174 Aortic Aneurysm, Familial Thoracic 12 21
1330 TRC114 Trichodental Dysplasia 21
1331 HST018 Histiocytosis, Progressive Mucinous 21
1332 P CTS012 Cutis Verticis Gyrata 21
1333 LNR010 Linear Lichen Planus 21
1334 c DWL004 Dowling-Degos Disease 4 21
1335 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 20
1336 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 20
1337 CNG248 Congenital Smooth Muscle Hamartoma 20
1338 PLD002 Pilodental Dysplasia with Refractive Errors 20
1339 c ANG073 Angioedema, Hereditary, 5 20
1340 c DRM055 Dermatitis, Atopic, 3 20
1341 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 20
1342 PTR029 Pterygium, Antecubital 20
1343 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
1344 c ANG074 Angioedema, Hereditary, 6 20
1345 c PSR022 Psoriasis 15, Pustular 20
1346 c ACQ027 Acquired Cutis Laxa 20
1347 AML012 Ameloonychohypohidrotic Syndrome 20
1348 HRP026 Herpetiform Pemphigus 20
1349 PRG077 Progressive Nodular Histiocytosis 20
1350 HND001 Hand Dermatosis 20
1351 c RNG011 Ring Chromosome 16 19
1352 DRM019 Dermatoleukodystrophy 19
1353 IMM238 Immunodeficiency 77 19
1354 c SYS041 Systemic Lupus Erythematosus 9 19
1355 GRN067 Granuloma Faciale 19
1356 ACT160 Actinic Lichen Planus 19
1357 c LTY001 Late Yaws 19
1358 P FML313 Familial Progressive Hyperpigmentation 19
1359 c PRK074 Porokeratosis 9, Multiple Types 19
1360 c RNG014 Ring Chromosome 19 19
1361 ATS495 Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form 19
1362 c UVS004 Uv-Sensitive Syndrome 2 19
1363 DFF010 Diffuse Alopecia Areata 19
1364 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 19
1365 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19
1366 CYT017 Cytophagic Histiocytic Panniculitis 19
1367 c ANG076 Angioedema, Hereditary, 8 19
1368 PMP003 Pemphigus and Fogo Selvagem 19
1369 c DRM056 Dermatitis, Atopic, 4 19
1370 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 19
1371 c UNC019 Uncombable Hair Syndrome 2 19
1372 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 18
1373 P PRM299 Primary Cutaneous B-Cell Lymphoma 18
1374 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 18
1375 BRB005 Birbeck Granule Deficiency 18
1376 CTN031 Cutaneous Pseudolymphoma 18
1377 ELS003 Elastoderma 18
1378 NTL003 Notalgia Paresthetica 18
1379 c PLN016 Peeling Skin Syndrome Type a 18
1380 c RNG031 Ring Chromosome Y Syndrome 18
1381 c SYS065 Systemic Lupus Erythematosus 11 18
1382 VND003 Van Den Bosch Syndrome 18
1383 FLT007 Flotch Syndrome 18
1384 ACR078 Acral Self-Healing Collodion Baby 18
1385 c SYS046 Systemic Lupus Erythematosus 3 18
1386 c CNG596 Congenital Ectropion 17
1387 LNR009 Linear Atrophoderma of Moulin 17
1388 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 17
1389 c ANG075 Angioedema, Hereditary, 7 17
1390 c PLL014 Pellagra-Like Syndrome 17
1391 PRN056 Parana Hard-Skin Syndrome 17
1392 c PRK084 Porokeratosis 6, Multiple Types 17
1393 STV009 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome 17
1394 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 17
1395 c SYS048 Systemic Lupus Erythematosus 8 17
1396 c RRC001 Rare Cutaneous Lupus Erythematosus 17
1397 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 17
1398 P PRM145 Primary Anetoderma 17
1399 MDL016 Midline Cervical Cleft 17
1400 c DRM061 Dermatitis, Atopic, 9 17
1401 ANN014 Annular Lichen Planus 17
1402 c SYS053 Systemic Lupus Erythematosus 5 17
1403 P PRM210 Primary Lipodystrophy 17
1404 ATR097 Atrophoderma of Pasini and Pierini 17
1405 CLC064 Calcifying Aponeurotic Fibroma 17
1406 c SYS051 Systemic Lupus Erythematosus 4 16
1407 c KRT018 Keratosis Palmoplantaris Striata Iii 16
1408 c UNC018 Uncombable Hair Syndrome 3 16
1409 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
1410 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 16
1411 ERY049 Erythroderma, Lethal Congenital 16
1412 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
1413 ORL024 Oral and Digital Anomalies with Ichthyosis 16
1414 c DRM058 Dermatitis, Atopic, 6 16
1415 c SYS055 Systemic Lupus Erythematosus 12 16
1416 FCL040 Focal Acral Hyperkeratosis 16
1417 MCD003 Mcdowall Syndrome 15
1418 BSL013 Basaloid Follicular Hamartoma 15
1419 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1420 c HRN019 Hair-an Syndrome 15
1421 LNR012 Linear Verrucous Nevus Syndrome 15
1422 HMT019 Hematohidrosis 15
1423 c SYS052 Systemic Lupus Erythematosus 13 15
1424 SCR014 Scrotum Basal Cell Carcinoma 15
1425 c AST057 Asthma-Related Traits 5 14
1426 PPL044 Papular Elastorrhexis 14
1427 c ACQ036 Acquired Angioedema Type 2 14
1428 ACR040 Acromelanosis 14
1429 c SYS047 Systemic Lupus Erythematosus 7 14
1430 LCL025 Localized Dystrophic Epidermolysis Bullosa, Acral Form 14
1431 LGD001 Leg Dermatosis 14
1432 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
1433 c PHT009 Photoparoxysmal Response 2 14
1434 GNR027 Generalized Peeling Skin Syndrome 14
1435 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 14
1436 c ATM109 Autoimmune Bullous Skin Disease 13
1437 P ALP110 Alopecia-Mental Retardation Syndrome 13
1438 PLB003 Pili Bifurcati 13
1439 SPR072 Superficial Pemphigus 13
1440 EPD090 Epidermal Disease 13
1441 WRT007 Warts-Immunodeficiency-Lymphedema-Anogenital Dysplasia Syndrome 13
1442 CRC033 Circumscribed Palmoplantar Hypokeratosis 13
1443 c PHT011 Photoparoxysmal Response 3 13
1444 HYP742 Hyperpigmentation of Eyelids 13
1445 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1446 c SYS045 Systemic Lupus Erythematosus 14 13
1447 SPR145 Superficial Fibromatosis 13
1448 ATY027 Atypical Lichen Myxedematosus 13
1449 c RRL001 Rare Lichen Planus 12
1450 c LCH017 Lichen Planus, Familial 12
1451 c PRM188 Primary Cutis Verticis Gyrata 12
1452 LYM044 Lymphocytic Infiltrate of Jessner 12
1453 DSC010 Discrete Papular Lichen Myxedematosus 11
1454 LBM005 Labia Minora Cancer 11
1455 c SYS067 Systemic Lupus Erythematosus 15 11
1456 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
1457 CTN008 Cutaneous Liposarcoma 11
1458 c AST035 Asthma-Related Traits 6 11
1459 MXL007 Maxillary Sinus Cholesteatoma 11
1460 VLV014 Vulva Fibroepithelial Polyp 11
1461 SLF008 Self-Healing Papular Mucinosis 11
1462 WHT012 White Fibrous Papulosis of the Neck 11
1463 LCL024 Localized Dystrophic Epidermolysis Bullosa, Nails Only 11
1464 YSH001 Yusho Disease 11
1465 c PRM185 Primary Essential Cutis Verticis Gyrata 10
1466 c AST033 Asthma-Related Traits 3 10
1467 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 10
1468 c SCN085 Secondary Ectropion 9
1469 c LCL023 Localized Dystrophic Epidermolysis Bullosa 9
1470 DRM002 Dermoid Cyst of Skin 9
1471 P ISL140 Isolated Diffuse Palmoplantar Keratoderma 9
1472 c CNG628 Congenital Disorder of Glycosylation Iw 9
1473 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 9
1474 c AST036 Asthma-Related Traits 8 9
1475 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 9
1476 FBR006 Fibroepithelial Polyp of the Anus 9
1477 c KRT070 Keratosis, Familial Actinic 8
1478 c ACQ035 Acquired Angioedema Type 1 8
1479 SCL040 Scleromyxedema Without Monoclonal Gammopathy 8
1480 RRN012 Rare Nevus 8
1481 ISL149 Isolated Nail Anomaly 7
1482 c ATS439 Autosomal Ichthyosis Syndrome 7
1483 SBC040 Subcutaneous Tissue Disease 7
1484 MCH005 Mechanical Lagophthalmos 7
1485 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1486 c PLN027 Peeling Skin Syndrome Type C 7
1487 BLN022 Blue Nevi, Familial Multiple 7
1488 NNT060 Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18 7
1489 P AGG008 Aggressive Primary Cutaneous T-Cell Lymphoma 7
1490 GNT094 Genetic Pigmentation Anomaly of the Skin 7
1491 VLV007 Vulvar Inverted Follicular Keratosis 7
1492 RRM007 Rare Mucosal Lichen Planus 7
1493 P DSR041 Disorder of Multiple Glycosylation 6
1494 ISL141 Isolated Focal Palmoplantar Keratoderma 6
1495 ISL136 Isolated Punctate Palmoplantar Keratoderma 6
1496 P DSS028 Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 6
1497 PRT089 Partial Deep Dermal and Full Thickness Burns 6
1498 NVD002 Nevada Syndrome 6
1499 KTP001 Ketoprofen Photoallergic Dermatitis 6
1500 BNG008 Benign Dermal Neurilemmoma 6
1501 c BCT003 Bacterial Exanthem 6
1502 P DSS029 Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1503 c ATS466 Autosomal Recessive Isolated Diffuse Palmoplantar Keratoderma 5
1504 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
1505 CMB110 Combined Immunodeficiency Due to Rela Haploinsufficiency 5
1506 c AGG009 Aggressive Primary Cutaneous B-Cell Lymphoma 5
1507 PNC131 Punctate Acrokeratoderma Freckle-Like Pigmentation 5
1508 c ATS444 Autosomal Recessive Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1509 P SYS073 Systemic Disease with Skin Involvement 5
1510 c ATS464 Autosomal Dominant Disease with Diffuse Palmoplantar Keratoderma As a Major Feature 5
1511 c ATS467 Autosomal Recessive Disease with Focal Palmoplantar Keratoderma As a Major Feature 5
1512 HYP044 Hypotrichosis of Eyelid 4
1513 DSC002 Discoid Lupus Erythematosus of Eyelid 4
1514 GNT129 Genetic Dermis Elastic Tissue Disorder 4
1515 ACQ032 Acquired Kinky Hair Syndrome 4
1516 HYP045 Hypertrichosis of Eyelid 4
1517 c RRD045 Rare Disorder with Ectropion 4
1518 EPD089 Epidermal Appendage Anomaly 4
1519 c ATM107 Autoimmune Disease with Skin Involvement 4
1520 DSS030 Disease with Punctate Palmoplantar Keratoderma As a Major Feature 4
1521 PRM347 Primary Lymphedema with Systemic or Visceral Involvement 4
1522 INH028 Inherited Non-Syndromic Ichthyosis 4
1523 ACQ063 Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue 4
1524 SYN138 Syndromic Hair Shaft Abnormality 4
1525 MXD049 Mixed Dermis Disorder 4
1526 OTH022 Other Dermis Disorder 3
1527 ATS443 Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities 3
1528 ATS440 Autosomal Ichthyosis Syndrome with Other Associated Signs 3
1529 VCC001 Vaccinia 48
1530 SBC019 Subcutaneous Mycosis 36
1531 ERY001 Erysipeloid 32
1532 EXN001 Exanthema Subitum 31
1533 MLK001 Milker's Nodule 27
1534 HRP005 Herpetic Whitlow 26
1535 MLN047 Melanoma-Pancreatic Cancer Syndrome 31
1536 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 6
1537 IMM274 Immunodeficiency 103 Fungal Infections 39
1538 MGR041 Megarbane-Jalkh Syndrome 11
1539 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 40
1540 EMB015 Embryonal Tumor with Multilayered Rosettes 29
1541 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 24
1542 VRC005 Varicose Veins 60
1543 PRX015 Paroxysmal Extreme Pain Disorder 56
1544 c BSL024 Basal Cell Carcinoma 1 59
1545 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 58
1546 OCL009 Ocular Cancer 57
1547 LNG039 Lung Squamous Cell Carcinoma 57
1548 OVR044 Ovarian Carcinosarcoma 55
1549 MLR003 Melorheostosis 53
1550 LRY018 Laryngeal Squamous Cell Carcinoma 51
1551 c WRD032 Waardenburg Syndrome, Type 2a 49
1552 AND001 Anodontia 46
1553 PNL025 Penile Benign Neoplasm 44
1554 PNS010 Penis Squamous Cell Carcinoma 42
1555 LYM008 Lymphangiosarcoma 41
1556 c WRD022 Waardenburg Syndrome, Type 2d 35
1557 EXT065 Extraosseous Ewing Sarcoma 35
1558 c WRD029 Waardenburg Syndrome, Type 2b 34
1559 P VGN018 Vaginal Carcinosarcoma 31
1560 BLD047 Bladder Squamous Cell Carcinoma 30
1561 IMM239 Immunodeficiency 79 29
1562 c CNG133 Congenital Varicella Syndrome 29
1563 CLN009 Colon Squamous Cell Carcinoma 28
1564 IMM194 Immunodeficiency 59 and Hypoglycemia 26
1565 THY027 Thymus Squamous Cell Carcinoma 26
1566 MDD007 Middle Ear Squamous Cell Carcinoma 25
1567 MLN064 Melanoma of Soft Tissue 25
1568 FLL028 Fallopian Tube Carcinosarcoma 24
1569 RNL009 Renal Pelvis Squamous Cell Carcinoma 24
1570 P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 23
1571 RSS027 Russell-Silver Syndrome, X-Linked 21
1572 CPP001 Copper Deficiency, Familial Benign 20
1573 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 19
1574 EXT016 External Ear Squamous Cell Carcinoma 16
1575 VGN004 Vaginal Yolk Sac Tumor 14
1576 LCR007 Lacrimal Gland Squamous Cell Carcinoma 13
1577 BNP001 Bone Peripheral Neuroepithelioma 12
1578 P VRC007 Varicella, Severe Recurrent 8
1579 c BNG035 Benign Vaginal Carcinosarcoma 6
1580 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1581 c TBR025 Tuberous Sclerosis 1 74
1582 XRD010 Xeroderma Pigmentosum, Variant Type 72
1583 SVR097 Severe Cutaneous Adverse Reaction 70
1584 P DYS007 Dyskeratosis Congenita 69
1585 c DNG003 Dengue Disease 69
1586 HTC003 Hutchinson-Gilford Progeria Syndrome 68
1587 P TBR001 Tuberous Sclerosis 68
1588 VLV032 Vulva Cancer 66
1589 P PSR002 Psoriasis 65
1590 P LYS001 Loeys-Dietz Syndrome 65
1591 c ORF037 Orofaciodigital Syndrome I 64
1592 P EHL001 Ehlers-Danlos Syndrome 64
1593 c ATS013 Autosomal Recessive Congenital Ichthyosis 64
1594 c TBR026 Tuberous Sclerosis 2 63
1595 BTN003 Biotinidase Deficiency 63
1596 INC021 Incontinentia Pigmenti 63
1597 c PRT132 Protoporphyria, Erythropoietic, 1 62
1598 NTH001 Netherton Syndrome 62
1599 P EPD009 Epidermolysis Bullosa Dystrophica 62
1600 CHN055 Chanarin-Dorfman Syndrome 62
1601 c LYS019 Loeys-Dietz Syndrome 1 62
1602 SKN022 Skin Squamous Cell Carcinoma 61
1603 BLL006 Bullous Pemphigoid 61
1604 DNH001 Donohue Syndrome 61
1605 ALP097 Alopecia Universalis Congenita 60
1606 P CTR002 Cataract 60
1607 c HRD202 Hereditary Lymphedema I 60
1608 P ACN011 Acne 59
1609 c LYS021 Loeys-Dietz Syndrome 3 59
1610 c ORF040 Orofaciodigital Syndrome Viii 59
1611 P ALP009 Alopecia Areata 59
1612 CRT002 Cartilage-Hair Hypoplasia 59
1613 FRB001 Farber Lipogranulomatosis 59
1614 LGS001 Legius Syndrome 58
1615 P CND004 Candidiasis 58
1616 P ERY008 Erythromelalgia 58
1617 c CPL013 Capillary Malformations, Congenital 58
1618 P CTS001 Cutis Laxa 57
1619 HYL004 Hyaline Fibromatosis Syndrome 57
1620 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 57
1621 LYM021 Lymphadenitis 57
1622 BRN002 Bronchiolitis 57
1623 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 57
1624 DSS009 Disseminated Intravascular Coagulation 56
1625 c ORF034 Orofaciodigital Syndrome Vi 56
1626 CHR105 Choreoacanthocytosis 56
1627 c CHL140 Chilblain Lupus 1 56
1628 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 55
1629 c LYS018 Loeys-Dietz Syndrome 2 55
1630 PYD001 Pyoderma Gangrenosum 55
1631 NXS001 Naxos Disease 55
1632 ERD001 Erdheim-Chester Disease 54
1633 P EPD003 Epidermolysis Bullosa Simplex 54
1634 c ALB009 Albinism, Oculocutaneous, Type Ia 54
1635 c HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 53
1636 P EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 53
1637 CLL003 Cellulitis 53
1638 IRR003 Irritant Dermatitis 53
1639 LPD016 Lipoid Proteinosis of Urbach and Wiethe 52
1640 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1641 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
1642 PRM373 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma 52
1643 P KRT005 Keratoacanthoma 52
1644 EPD099 Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy 52
1645 SKN013 Skin Benign Neoplasm 51
1646 P EPT012 Epithelioid Sarcoma 51
1647 SCH038 Schopf-Schulz-Passarge Syndrome 51
1648 c EPD112 Epidermolysis Bullosa Simplex Localized Type 51
1649 P DNG005 Dengue Virus 51
1650 c LYS020 Loeys-Dietz Syndrome 5 50
1651 ENC010 Encephalocraniocutaneous Lipomatosis 50
1652 LMT001 Limited Scleroderma 50
1653 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 50
1654 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 49
1655 c ORF035 Orofaciodigital Syndrome Iv 49
1656 EPD006 Epidermolysis Bullosa Acquisita 49
1657 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 49
1658 ORL015 Oral Squamous Cell Carcinoma 49
1659 P ORF001 Orofaciodigital Syndrome 49
1660 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 48
1661 PLM029 Palmoplantar Keratosis 48
1662 P BRT028 Brittle Cornea Syndrome 1 48
1663 P ACT010 Acth-Secreting Pituitary Adenoma 48
1664 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 48
1665 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
1666 PRL019 Prolidase Deficiency 47
1667 c ORF033 Orofaciodigital Syndrome V 47
1668 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 47
1669 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 47
1670 CHL056 Cheilitis 47
1671 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
1672 c CTR103 Cataract 4, Multiple Types 47
1673 VXS001 Vexas Syndrome 47
1674 c CTR098 Cataract 1, Multiple Types 47
1675 c PTT057 Pituitary Adenoma 4, Acth-Secreting 47
1676 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
1677 P EPD094 Epidermolysis Bullosa Simplex 1a, Generalized Severe 47
1678 LCH016 Lichen Sclerosus Et Atrophicus 47
1679 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
1680 P ACQ022 Acquired Generalized Lipodystrophy 46
1681 P HML047 Heimler Syndrome 1 46
1682 EPD097 Epidermolysis Bullosa Simplex 5a, Ogna Type 46
1683 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 45
1684 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
1685 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
1686 MTL007 Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 45
1687 CTS002 Cat-Scratch Disease 45
1688 c CTR182 Cataract 23, Multiple Types 44
1689 P FML361 Familial Woolly Hair Syndrome 44
1690 c CTR096 Cataract 6, Multiple Types 44
1691 PKL001 Poikiloderma with Neutropenia 44
1692 MCP033 Mucopolysaccharidoses 44
1693 KRT058 Keratoderma, Palmoplantar, with Deafness 44
1694 ECZ002 Eczema Herpeticum 44
1695 WTK002 Witkop Syndrome 44
1696 DFF035 Diffuse Cutaneous Systemic Sclerosis 43
1697 HLX001 Helix Syndrome 43
1698 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 43
1699 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 43
1700 c CTR130 Cataract 9, Multiple Types 43
1701 APC004 Apocrine Adenocarcinoma 43
1702 IMM071 Immunodeficiency 12 43
1703 MND025 Mandibulofacial Dysostosis with Alopecia 43
1704 P PRP034 Purpura Fulminans 43
1705 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
1706 CRD017 Cardiac Valvular Dysplasia, X-Linked 42
1707 ACR004 Acrokeratosis Verruciformis 42
1708 FRN020 Frontal Fibrosing Alopecia 42
1709 MTL005 Metal Allergy 42
1710 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 42
1711 ICH031 Ichthyosis with Confetti 41
1712 ORL013 Oral Lichen Planus 41
1713 TNC003 Tinea Corporis 41
1714 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 41
1715 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
1716 EYL005 Eyelid Disease 41
1717 P BRT062 Bartsocas-Papas Syndrome 1 40
1718 PMP002 Pemphigoid Gestationis 40
1719 ILC002 Ileocolitis 40
1720 NDL003 Nodular Nonsuppurative Panniculitis 40
1721 P PRM327 Primary Lymphedema 40
1722 c CTR118 Cataract 14, Multiple Types 40
1723 SKN020 Skin Papilloma 40
1724 BSL006 Basaloid Squamous Cell Carcinoma 40
1725 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 40
1726 c ORF038 Orofaciodigital Syndrome Iii 40
1727 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 40
1728 ERY017 Erythema Elevatum Diutinum 40
1729 PSD016 Pseudosarcomatous Fibromatosis 39
1730 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 39
1731 c CTR125 Cataract 7 39
1732 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
1733 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
1734 NRD001 Neurodermatitis 39
1735 ACT167 Acute Generalized Exanthematous Pustulosis 39
1736 c BRT029 Brittle Cornea Syndrome 2 39
1737 c CTR132 Cataract 3, Multiple Types 39
1738 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 39
1739 MYP001 Myoepithelioma 39
1740 MCR016 Micronodular Basal Cell Carcinoma 39
1741 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 39
1742 c CTR115 Cataract 16, Multiple Types 39
1743 c PLN017 Peeling Skin Syndrome 1 39
1744 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
1745 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 39
1746 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
1747 c CTR170 Cataract 30, Multiple Types 39
1748 CLR015 Clear Cell Basal Cell Carcinoma 38
1749 SLT014 Salt and Pepper Developmental Regression Syndrome 38
1750 ESN015 Eosinophilic Fasciitis 38
1751 c CTR174 Cataract 40 38
1752 c HRD206 Hereditary Lymphedema Ii 38
1753 c CTR113 Cataract 11, Multiple Types 38
1754 ECC004 Eccrine Porocarcinoma 38
1755 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 38
1756 P UVS001 Uv-Sensitive Syndrome 38
1757 c ORF043 Orofaciodigital Syndrome Ix 38
1758 c HRD007 Hereditary Lymphedema 38
1759 c CWD005 Cowden Syndrome 4 37
1760 c CTR145 Cataract 44 37
1761 HYP652 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 37
1762 DRG013 Drug-Induced Lupus Erythematosus 37
1763 MTT001 Metatypical Basal Cell Carcinoma 37
1764 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 37
1765 NRW001 Norwegian Scabies 36
1766 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
1767 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 36
1768 PRP005 Parapsoriasis 36
1769 HRZ001 Huriez Syndrome 36
1770 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 36
1771 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 36
1772 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 36
1773 PRM206 Premature Aging Syndrome, Penttinen Type 36
1774 MNS001 Mansonelliasis 36
1775 c CTR129 Cataract 31, Multiple Types 36
1776 HMM002 Haim-Munk Syndrome 36
1777 c CTR181 Cataract 18 35
1778 NRT002 Neurotic Excoriation 35
1779 SPT022 Spitzoid Melanoma 35
1780 c ATP003 Atp6v0a2-Related Cutis Laxa 35
1781 TXC003 Toxicodendron Dermatitis 35
1782 MCR183 Microcephaly-Capillary Malformation Syndrome 35
1783 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 35
1784 P ICH083 Ichthyosis, Annular Epidermolytic, 1 34
1785 c CTR122 Cataract 5, Multiple Types 34
1786 c CTR183 Cataract 38 34
1787 c ALB015 Albinism, Oculocutaneous, Type V 34
1788 PGM030 Pigmentation Anomaly of the Skin 34
1789 LGP001 Lagophthalmos 34
1790 c CTR095 Cataract 8, Multiple Types 34
1791 LMY001 Leiomyoma Cutis 34
1792 SCL025 Scleromyxedema 33
1793 c CNG439 Congenital Lymphedema 33
1794 c VHW003 Vohwinkel Syndrome, Variant Form 33
1795 c DRM057 Dermatitis, Atopic, 5 33
1796 PRG023 Progeroid Short Stature with Pigmented Nevi 33
1797 INF027 Infiltrative Basal Cell Carcinoma 33
1798 c HML046 Heimler Syndrome 2 33
1799 c CTR102 Cataract 2, Multiple Types 33
1800 INF057 Inflammatory Linear Verrucous Epidermal Nevus 33
1801 c CTR131 Cataract 17, Multiple Types 32
1802 URM005 Uremic Pruritus 32
1803 c CTR187 Cataract 48 32
1804 DRF001 Dirofilariasis 32
1805 c CTR111 Cataract 36 32
1806 c CTR185 Cataract 30 32
1807 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 32
1808 CRC001 Cercarial Dermatitis 32
1809 c ATS533 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form 31
1810 c ORF036 Orofaciodigital Syndrome Xiv 31
1811 SKN021 Skin Sarcoma 31
1812 c WLL018 Woolly Hair, Autosomal Dominant 31
1813 c CTR124 Cataract 10, Multiple Types 31
1814 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 31
1815 c BNM010 Bone Marrow Failure Syndrome 1 31
1816 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 31
1817 CLD011 Cold Urticaria 31
1818 KRT013 Keratolytic Winter Erythema 31
1819 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
1820 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
1821 GRD004 Gardner-Diamond Syndrome 31
1822 NRD103 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 31
1823 LBM003 Lobomycosis 31
1824 SRC003 Sarcomatoid Basal Cell Carcinoma 30
1825 c CTR175 Cataract 24 30
1826 OCC001 Occupational Dermatitis 30
1827 BJL001 Bejel 30
1828 DRM043 Dermochondrocorneal Dystrophy 30
1829 c ACQ076 Acquired Ichthyosis 30
1830 c LCL022 Localized Lipodystrophy 30
1831 c CTR119 Cataract 32, Multiple Types 30
1832 PHT004 Photoallergic Dermatitis 30
1833 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 29
1834 TNP002 Tinea Profunda 29
1835 PRN017 Perianal Hematoma 29
1836 PLL016 Palladium Allergic Contact Dermatitis 29
1837 ACR034 Acrogeria, Gottron Type 29
1838 c CTR141 Cataract 21, Multiple Types 29
1839 c CWD009 Cowden Syndrome 7 29
1840 P ALP116 Alopecia-Intellectual Disability Syndrome 4 29
1841 c ALB016 Albinism, Oculocutaneous, Type Vii 29
1842 ERY066 Erythema Multiforme Major 29
1843 P INH011 Inherited Bone Marrow Failure Syndromes 28
1844 BRS013 Borst-Jadassohn Intraepidermal Carcinoma 28
1845 HYP160 Hyperkeratosis Lenticularis Perstans 28
1846 c ORF041 Orofaciodigital Syndrome X 28
1847 SGN001 Signet Ring Basal Cell Carcinoma 28
1848 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 28
1849 c BNM032 Bone Marrow Failure Syndrome 4 28
1850 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 28
1851 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 28
1852 c CND033 Candidiasis, Familial, 1 28
1853 HRD216 Hereditary Palmoplantar Keratoderma 28
1854 DFF038 Diffuse Palmoplantar Keratoderma 27
1855 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 27
1856 HRF001 Hair Follicle Neoplasm 27
1857 c BNM013 Bone Marrow Failure Syndrome 3 27
1858 c CTR180 Cataract 22, Multiple Types 27
1859 FBR015 Fibroepithelial Basal Cell Carcinoma 27
1860 CTN012 Cutaneous Leiomyosarcoma 27
1861 c MLG063 Malignant Dermis Tumor 27
1862 c CND025 Candidiasis, Familial, 8 27
1863 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
1864 STR096 Striate Palmoplantar Keratoderma 27
1865 EYL002 Eyelid Carcinoma 27
1866 PGM010 Pigmented Purpuric Eruption 27
1867 XNT009 Xanthoma Disseminatum 26
1868 NCK004 Nickel Allergic Contact Dermatitis 26
1869 c CTR116 Cataract 15, Multiple Types 26
1870 INF046 Infantile Digital Fibromatosis 26
1871 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 26
1872 ERS002 Erosive Pustular Dermatosis of the Scalp 26
1873 P PPL026 Papular Mucinosis 26
1874 c HYP884 Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive 26
1875 c CTR105 Cataract 12, Multiple Types 26
1876 EXF003 Exfoliative Dermatitis 26
1877 c OCL081 Oculocutaneous Albinism, Type Viii 26
1878 c ORF042 Orofaciodigital Syndrome Xi 26
1879 ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 26
1880 c CTR166 Cataract 33, Multiple Types 26
1881 c CTR121 Cataract 25 26
1882 c CTR097 Cataract 34, Multiple Types 26
1883 AQG004 Aquagenic Syringeal Acrokeratoderma 25
1884 c ORF046 Orofaciodigital Syndrome Xvi 25
1885 c EPD104 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive 25
1886 BLL002 Balloon Cell Malignant Melanoma 25
1887 ALL007 Allergic Urticaria 25
1888 c WLL035 Woolly Hair, Autosomal Recessive 3 25
1889 c ORF051 Orofaciodigital Syndrome Xvii 25
1890 CHL075 Cheilitis Glandularis 25
1891 c BNM011 Bone Marrow Failure Syndrome 2 25
1892 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
1893 c CND036 Candidiasis, Familial, 4 25
1894 c ORF052 Orofaciodigital Syndrome Xviii 25
1895 c LYS031 Loeys-Dietz Syndrome 6 24
1896 ECT073 Ectodermal Dysplasia/short Stature Syndrome 24
1897 P CMB108 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 24
1898 c CND031 Candidiasis, Familial, 9 24
1899 SNL003 Senile Angioma 24
1900 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 24
1901 c ORF045 Orofaciodigital Syndrome Xv 24
1902 c FML223 Familial Keratoacanthoma 24
1903 HRL002 Harlequin Syndrome 24
1904 c CTR169 Cataract 29 24
1905 GNT018 Gianotti Crosti Syndrome 24
1906 LNR005 Linear Scleroderma 24
1907 ZNC006 Zinc, Elevated Plasma 24
1908 c HRD204 Hereditary Lymphedema Ia 24
1909 c CTR165 Cataract 19, Multiple Types 24
1910 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 24
1911 c DRM060 Dermatitis, Atopic, 8 24
1912 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 23
1913 c CTR162 Cataract 47 23
1914 c KRT017 Keratosis Palmoplantaris Striata Ii 23
1915 c CTR136 Cataract 41 23
1916 INF118 Inflammatory Myopathy with Abundant Macrophages 23
1917 PLM104 Palmoplantar Keratoderma, Nagashima Type 23
1918 c CMB109 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 23
1919 c CTR157 Cataract 28 23
1920 c CTR158 Cataract 37 23
1921 SKN011 Skin Pilomatrix Carcinoma 23
1922 c BRT063 Bartsocas-Papas Syndrome 2 23
1923 c HRD100 Hereditary Lymphedema Ic 23
1924 c MYF010 Myofibromatosis, Infantile, 2 23
1925 c BNM033 Bone Marrow Failure Syndrome 5 23
1926 CHL021 Cholesteatoma of External Ear 23
1927 P HYP885 Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant 23
1928 MCL047 Macular Amyloidosis 22
1929 EPD082 Epidermolytic Nevus 22
1930 c CTR184 Cataract 39, Multiple Types 22
1931 TLN007 Telangiectasia, Hereditary Benign 22
1932 c TRC127 Trichothiodystrophy 8, Nonphotosensitive 22
1933 ACN030 Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 22
1934 c CTR106 Cataract 20, Multiple Types 22
1935 c CND037 Candidiasis, Familial, 6 22
1936 c CNT031 Central Epithelioid Sarcoma 22
1937 c CTR110 Cataract 26, Multiple Types 22
1938 PBL004 Piebald Trait with Neurologic Defects 22
1939 EXF002 Exfoliative Ichthyosis 22
1940 RDT005 Radiation Induced Cancer 22
1941 MRP002 Morpheaform Basal Cell Carcinoma 22
1942 HYP855 Hyperpigmentation of the Skin 21
1943 GRM003 German Syndrome 21
1944 PRM128 Primary Cutaneous Follicle Center Lymphoma 21
1945 PRM314 Primary Cutaneous Lymphoma 21
1946 c CTR160 Cataract 45 21
1947 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 21
1948 VLV046 Vulvovaginal Gingival Syndrome 21
1949 c CTR144 Cataract 43 21
1950 c PRT135 Protoporphyria, Erythropoietic, 2 21
1951 c CTR178 Cataract 27 21
1952 QST001 Question Mark Ears, Isolated 21
1953 ANG067 Angioma, Hereditary Neurocutaneous 21
1954 AGG003 Aggressive Digital Papillary Adenocarcinoma 21
1955 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 21
1956 SKN010 Skin Epithelioid Hemangioma 21
1957 IND009 Indeterminate Cell Histiocytosis 21
1958 c BNM034 Bone Marrow Failure Syndrome 6 21
1959 c ALP039 Alopecia Areata 1 21
1960 c ORF039 Orofaciodigital Syndrome Vii 21
1961 c CTR128 Cataract 33 20
1962 c CTR159 Cataract 35 20
1963 PKL003 Poikiloderma, Hereditary Sclerosing 20
1964 c CTR139 Cataract 42 20
1965 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 20
1966 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 20
1967 CLL040 Callosities, Hereditary Painful 20
1968 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 20
1969 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 20
1970 HYP854 Hypopigmentation of the Skin 20
1971 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 20
1972 c ACQ043 Acquired Lipodystrophy 19
1973 ADM002 Adamantinoid Basal Cell Epithelioma 19
1974 CNG265 Congenital Erosive and Vesicular Dermatosis 19
1975 PNH003 Pinheiro Freire-Maia Miranda Syndrome 19
1976 ANG063 Angiolipomatosis, Familial 19
1977 c LTB003 Ltbp4-Related Cutis Laxa 19
1978 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1979 BKS002 Book Syndrome 19
1980 PPL017 Papillary Hidradenoma 19
1981 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 19
1982 ELS005 Elastoma 19
1983 MCP053 Mucopolysaccharidosis with Skin Involvement 19
1984 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
1985 HRD017 Hordeolum Externum 19
1986 c CTR190 Cataract 49 18
1987 ANL016 Anal Margin Carcinoma 18
1988 c ALP114 Alopecia-Intellectual Disability Syndrome 2 18
1989 c ACQ039 Acquired Purpura Fulminans 18
1990 ERY014 Erythrokeratoderma 18
1991 c FBL003 Fbln5-Related Cutis Laxa 18
1992 HRM026 Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency 18
1993 CTN009 Cutaneous Adenocystic Carcinoma 18
1994 HRM025 Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency 18
1995 c ALP040 Alopecia Areata 2 17
1996 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
1997 ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 17
1998 c FML334 Familial Candidiasis 17
1999 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 17
2000 BLL018 Bullous Pyoderma Gangrenosum 17
2001 CRN075 Crandall Syndrome 17
2002 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
2003 c CND027 Candidiasis, Familial, 3 16
2004 DRM038 Dermotrichic Syndrome 16
2005 BLS009 Blistering, Acantholytic, of Oral and Laryngeal Mucosa 16
2006 c ALP115 Alopecia-Intellectual Disability Syndrome 3 16
2007 JSS002 Jessner Lymphocytic Infiltration of the Skin 16
2008 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16
2009 c CHR471 Chronic Hepatic Porphyria 16
2010 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 16
2011 EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 15
2012 c ATS532 Autosomal Recessive Generalized Epidermolysis Bullosa Simplex 15
2013 LCL017 Localized Pagetoid Reticulosis 15
2014 ANN015 Anonychia with Flexural Pigmentation 15
2015 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 14
2016 VSC009 Vascular Skin Disease 14
2017 c FML205 Familial Anetoderma 14
2018 c SCN066 Secondary Erythromelalgia 14
2019 c ELN002 Eln-Related Cutis Laxa 14
2020 SCL044 Scalp Syndrome 14
2021 14P001 1,4-Phenylenediamine Allergic Contact Dermatitis 14
2022 ART130 Arthrogryposis with Hyperkeratosis 14
2023 c ORF054 Orofaciodigital Syndrome Xix 13
2024 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 13
2025 LNR017 Linear Focal Elastosis 13
2026 c EFM001 Efemp2-Related Cutis Laxa 13
2027 MDD015 Mid-Dermal Elastolysis 13
2028 c ORF006 Orofaciodigital Syndrome 13 13
2029 c ORF005 Orofaciodigital Syndrome 12 13
2030 c HRD203 Hereditary Lymphedema Id 13
2031 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 13
2032 ACR120 Acrokeratoderma 13
2033 KRT077 Keratinopathic Ichthyosis 13
2034 c ATS416 Autosomal Recessive Epidermolytic Ichthyosis 12
2035 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 12
2036 SYN120 Syndromic Oculocutaneous Albinism 12
2037 c HYD016 Hydroa Vacciniforme, Familial 12
2038 LTN013 Late-Onset Focal Dermal Elastosis 12
2039 SKN017 Skin Glomangioma 12
2040 c HLL012 Hallermann-Streiff-Like Syndrome 12
2041 LBM004 Labium Majus Cancer 11
2042 ALP049 Alopecia Antibody Deficiency 11
2043 PNN006 Panniculitis-Induced Localized Lipodystrophy 11
2044 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
2045 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
2046 ERY070 Erythrokeratoderma Variabilis Progressiva 10
2047 c ACN029 Acne, Adult 10
2048 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 10
2049 c ADL038 Adult Epithelioid Sarcoma 9
2050 MLG109 Malignant Melanoma of the Mucosa 9
2051 PNS017 Pens Syndrome 9
2052 TLN001 Telangiectatic Glomangioma 9
2053 MYC091 Mycosis Fungoides and Variants 9
2054 PHK009 Phakomatosis Cesiomarmorata 8
2055 RRN013 Rare Nail Tumor 8
2056 HRD213 Hereditary Poikiloderma 8
2057 RRC009 Rare Cutaneous Lichen Planus 7
2058 ECS003 Eec Syndrome and Related Disorders 7
2059 CNG614 Congenital Primary Lymphedema of Gordon 7
2060 PRS018 Parasitic Eyelid Infestation 7
2061 FRM010 Formaldehyde Allergic Contact Dermatitis 7
2062 PRN012 Perianal Skin Paget's Disease 7
2063 PRP010 Prepuce Cancer 7
2064 PRM144 Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease 7
2065 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 6
2066 CLR010 Clear Cell Squamous Cell Skin Carcinoma 6
2067 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
2068 BNZ005 Benzo[d]isothiazol-3-One Allergic Contact Dermatitis 6
2069 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
2070 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
2071 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
2072 VRR002 Verrucous Keratotic Hemangioma 6
2073 BSL002 Basaloid Squamous Cell Skin Carcinoma 6
2074 SQM001 Squamous Cell Papilloma of Skin 6
2075 NMY001 Neomycin Sulfate Allergic Contact Dermatitis 6
2076 NLX006 Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency 6
2077 P RRC010 Rare Capillary Malformation 6
2078 c HRD205 Hereditary Lymphedema Ib 6
2079 NSL027 Nasal Dorsum Fistula 6
2080 IMM214 Immune Deficiency with Skin Involvement 6
2081 NND011 N,n'-Diphenylthiourea Allergic Contact Dermatitis 6
2082 P IND014 Indolent Primary Cutaneous T-Cell Lymphoma 6
2083 NLX008 Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency 5
2084 MRG017 Marginal Papular Palmoplantar Keratoderma 5
2085 ATS445 Autosomal Dominant Diffuse Mutilating Palmoplantar Keratoderma 5
2086 TXC023 Toxic Dermatosis 5
2087 EPD093 Epidermolysis Bullosa Simplex Without Extracutaneous Involvement 5
2088 c CTR008 Cataract Congenital Autosomal Dominant 5
2089 CHN007 Chondroid Syringoma of the Vulva 5
2090 CRV076 Carvone Allergic Contact Dermatitis 5
2091 24D002 2,4-Dinitrophenyl Allergic Contact Dermatitis 5
2092 PRT137 Parthenolide Allergic Contact Dermatitis 5
2093 XRD002 Xeroderma of Eyelid 5
2094 ECZ001 Eczematous Dermatitis of Eyelid 5
2095 c ATS468 Autosomal Dominant Isolated Diffuse Palmoplantar Keratoderma 5
2096 ATS465 Autosomal Dominant Disease Associated with Focal Palmoplantar Keratoderma As a Major Feature 5
2097 CNG581 Congenital Disorder of Glycosylation with Skin Involvement 5
2098 ATS441 Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs 5
2099 MSC208 Mosaic Legius Syndrome 5
2100 MTB014 Metabolic Disease with Skin Involvement 4
2101 PTS020 Potassium Dichromate Allergic Contact Dermatitis 4
2102 ATN019 Autoinflammatory Syndrome with Skin Involvement 4
2103 c ATS446 Autosomal Recessive Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
2104 P ATS447 Autosomal Dominant Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature 4
2105 EPD092 Epidermolysis Bullosa Simplex with Extracutaneous Involvement 4
2106 c LTN028 Late-Onset Primary Lymphedema Without Systemic or Visceral Involvement 4
2107 UNC024 Unclassified Genetic Skin Disorder 3
2108 OTH023 Other Epidermal Disorder 3
2109 OTH020 Other Acquired Skin Disease 3
2110 ANT024 Anthrax Disease 57
2111 PRC002 Paracoccidioidomycosis 54
2112 HND002 Hand, Foot and Mouth Disease 51
2113 CWP001 Cowpox 43
2114 SPR020 Superficial Mycosis 35
2115 CMM003 Common Wart 34
2116 OMN001 Omenn Syndrome 67
2117 EWN004 Ewing Sarcoma of Bone 33
2118 P TST021 Testicular Germ Cell Tumor 58
2119 P EMB018 Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 39
2120 c TST046 Testicular Germ Cell Tumor 1 32
2121 c ADL102 Adult Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 13
2122 c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 77
2123 SKN019 Skin Melanoma 71
2124 P BRL012 Bare Lymphocyte Syndrome, Type Ii 69
2125 P RTH006 Rothmund-Thomson Syndrome, Type 2 69
2126 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
2127 CHL065 Cholangiocarcinoma 68
2128 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
2129 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 67
2130 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 67
2131 P SKN015 Skin Carcinoma 67
2132 CRB011 Cerebrotendinous Xanthomatosis 67
2133 MVL001 Mevalonic Aciduria 66
2134 MRT001 Muir-Torre Syndrome 65
2135 P DRM053 Dermatitis, Atopic 65
2136 MYC006 Mycosis Fungoides 65
2137 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
2138 MCK007 Muckle-Wells Syndrome 64
2139 GT001 Gout 63
2140 ART001 Arterial Tortuosity Syndrome 63
2141 PSR001 Psoriatic Arthritis 63
2142 PHL006 Phelan-Mcdermid Syndrome 63
2143 ATM095 Autoimmune Disease 62
2144 P DRM010 Dermatomyositis 61
2145 MRS002 Marshall Syndrome 61
2146 P SPN301 Spinocerebellar Ataxia 2 61
2147 P EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 60
2148 P PRP029 Porphyria 60
2149 EPD002 Epidermolytic Hyperkeratosis 60
2150 CYS005 Cysticercosis 60
2151 c SPN309 Spinocerebellar Ataxia 6 60
2152 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
2153 P OCL002 Oculocutaneous Albinism 59
2154 P PTY003 Pityriasis Rubra Pilaris 59
2155 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
2156 CHR063 Chronic Mucocutaneous Candidiasis 59
2157 c ALB021 Albinism, Oculocutaneous, Type Ii 58
2158 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
2159 CPR004 Coproporphyria, Hereditary 58
2160 BSC001 Buschke-Ollendorff Syndrome 58
2161 LG4001 Lig4 Syndrome 57
2162 c CCK007 Cockayne Syndrome B 57
2163 KRT071 Keratosis, Seborrheic 57
2164 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 57
2165 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
2166 PRP082 Porphyria, Congenital Erythropoietic 56
2167 ALL010 Allergic Contact Dermatitis 56
2168 ERY003 Erythema Multiforme 56
2169 P CLS054 Classic Ehlers-Danlos Syndrome 56
2170 c SPN294 Spinocerebellar Ataxia 1 56
2171 c SPN291 Spinocerebellar Ataxia 7 55
2172 PMP004 Pemphigus Foliaceus 55
2173 ICH054 Ichthyosis, X-Linked 54
2174 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 54
2175 HYP781 Hypoascorbemia 54
2176 MLT135 Multiple Sulfatase Deficiency 53
2177 c LYS017 Loeys-Dietz Syndrome 4 53
2178 c ALB020 Albinism, Oculocutaneous, Type Iii 53
2179 c BRL011 Bare Lymphocyte Syndrome, Type I 53
2180 P LRG012 Large Congenital Melanocytic Nevus 53
2181 ADR038 Adermatoglyphia 52
2182 c ACT078 Acute Porphyria 52
2183 CHL122 Cholesteatoma of Middle Ear 52
2184 STR008 Strongyloidiasis 52
2185 JHN001 Johanson-Blizzard Syndrome 52
2186 c SPN106 Spinocerebellar Ataxia 5 52
2187 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 52
2188 INF034 Infective Endocarditis 52
2189 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 51
2190 c SPN311 Spinocerebellar Ataxia 13 51
2191 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 51
2192 c TMR025 Tumor Predisposition Syndrome 1 51
2193 P VHW001 Vohwinkel Syndrome 50
2194 c ALB010 Albinism, Oculocutaneous, Type Ib 50
2195 BRT001 Bart-Pumphrey Syndrome 50
2196 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
2197 c SPN100 Spinocerebellar Ataxia 27 50
2198 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 49
2199 SPH001 Sapho Syndrome 49
2200 c SPN296 Spinocerebellar Ataxia 17 49
2201 P APL006 Aplasia Cutis Congenita 49
2202 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 49
2203 c ALB019 Albinism, Oculocutaneous, Type Iv 49
2204 c SPN308 Spinocerebellar Ataxia 28 49
2205 BRS056 Breast Metaplastic Carcinoma 49
2206 AGG012 Aggressive Nk-Cell Leukemia 48
2207 c SPN305 Spinocerebellar Ataxia 11 48
2208 c LYM144 Lymphatic Malformation 1 48
2209 c SPN304 Spinocerebellar Ataxia 8 48
2210 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 48
2211 c SPN293 Spinocerebellar Ataxia 12 48
2212 c GRS013 Griscelli Syndrome, Type 1 48
2213 RYN003 Reynolds Syndrome 48
2214 OGD001 Ogden Syndrome 48
2215 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 48
2216 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
2217 c SPN312 Spinocerebellar Ataxia 14 47
2218 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
2219 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 47
2220 MLT152 Multiple Self-Healing Squamous Epithelioma 47
2221 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
2222 P DWL001 Dowling-Degos Disease 46
2223 c SPN314 Spinocerebellar Ataxia 10 46
2224 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 46
2225 TYL002 Tylosis with Esophageal Cancer 46
2226 STT007 Steatocystoma Multiplex 46
2227 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 46
2228 TRC118 Trichodentoosseous Syndrome 46
2229 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
2230 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 46
2231 OLV004 Oliver-Mcfarlane Syndrome 46
2232 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 46
2233 P PLY148 Polydactyly, Preaxial Ii 45
2234 ANC001 Ancylostomiasis 45
2235 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
2236 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 45
2237 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 45
2238 c JVN003 Juvenile Xanthogranuloma 45
2239 NDL001 Nodular Malignant Melanoma 45
2240 c SPN104 Spinocerebellar Ataxia 34 45
2241 IRN004 Iron-Refractory Iron Deficiency Anemia 45
2242 c SPN101 Spinocerebellar Ataxia 29 44
2243 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 44
2244 c SPN286 Spinocerebellar Ataxia 40 44
2245 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 44
2246 DRM021 Dermatopathia Pigmentosa Reticularis 44
2247 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
2248 c SPN284 Spinocerebellar Ataxia 38 44
2249 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 44
2250 SBC011 Sebaceous Adenocarcinoma 44
2251 c SPN097 Spinocerebellar Ataxia 23 44
2252 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 44
2253 SCL002 Scleredema Adultorum 44
2254 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 44
2255 P PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 44
2256 c SPN266 Spinocerebellar Ataxia 35 44
2257 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 44
2258 P PRD037 Periodontal Ehlers-Danlos Syndrome 44
2259 CTN004 Cutaneous Fibrous Histiocytoma 44
2260 c SPN290 Spinocerebellar Ataxia 15 44
2261 c SPN283 Spinocerebellar Ataxia 37 44
2262 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 43
2263 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
2264 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 43
2265 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 43
2266 P PLN008 Peeling Skin Syndrome 43
2267 MLN079 Melanoma in Congenital Melanocytic Nevus 43
2268 c SPN247 Spinocerebellar Ataxia Type 19/22 43
2269 c MLG049 Malignant Syringoma 42
2270 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 42
2271 c AXN009 Axenfeld-Rieger Syndrome, Type 1 42
2272 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
2273 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
2274 PRN049 Paraneoplastic Pemphigus 42
2275 SPT005 Spotted Fever 42
2276 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 42
2277 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 42
2278 c SPN105 Spinocerebellar Ataxia 4 42
2279 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 42
2280 c LYM161 Lymphatic Malformation 12 42
2281 c SPN265 Spinocerebellar Ataxia 36 42
2282 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 42
2283 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 42
2284 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 41
2285 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 41
2286 NDL009 Nodular Basal Cell Carcinoma 41
2287 SWT002 Sweat Gland Cancer 41
2288 c SPN096 Spinocerebellar Ataxia 21 41
2289 CHL073 Cholestasis-Lymphedema Syndrome 41
2290 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 40
2291 VBR001 Vibratory Urticaria 40
2292 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 40
2293 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 40
2294 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 40
2295 ACR113 Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma 40
2296 c SPN099 Spinocerebellar Ataxia 26 40
2297 c SPN103 Spinocerebellar Ataxia 31 40
2298 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
2299 MLT016 Multicentric Reticulohistiocytosis 40
2300 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39
2301 EPD117 Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous 39
2302 ACR005 Acrodermatitis 39
2303 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 39
2304 c APL023 Aplasia Cutis Congenita, Nonsyndromic 39
2305 P SPR013 Spiradenoma 39
2306 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 39
2307 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 39
2308 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 39
2309 c PLY149 Polydactyly, Preaxial Iv 39
2310 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
2311 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 39
2312 BRB006 Barber-Say Syndrome 39
2313 c SPN419 Spinocerebellar Ataxia 45 39
2314 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
2315 c EPD096 Epidermolysis Bullosa Simplex 1b, Generalized Intermediate 38
2316 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 38
2317 ANG016 Angiokeratoma 38
2318 c CWD004 Cowden Syndrome 5 38
2319 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 38
2320 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 38
2321 c SPN102 Spinocerebellar Ataxia 30 37
2322 BZX001 Bazex Syndrome 37
2323 EXT007 Extracutaneous Mastocytoma 37
2324 c SPN418 Spinocerebellar Ataxia 44 37
2325 ODN009 Odontoonychodermal Dysplasia 37
2326 c TMR026 Tumor Predisposition Syndrome 2 36
2327 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 36
2328 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 36
2329 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 36
2330 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 36
2331 P OLM003 Olmsted Syndrome 1 36
2332 IMM153 Immunodeficiency 51 35
2333 INT585 Intermediate Generalized Junctional Epidermolysis Bullosa 35
2334 c PLY136 Polydactyly, Preaxial I 35
2335 c RTH007 Rothmund-Thomson Syndrome, Type 1 35
2336 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
2337 CYS004 Cystic Basal Cell Carcinoma 35
2338 NVS015 Nevus Comedonicus 35
2339 SBC009 Sebaceous Adenoma 35
2340 BSL044 Basal Cell Carcinoma, Infundibulocystic 35
2341 TKN001 Takenouchi-Kosaki Syndrome 35
2342 c SPN383 Spinocerebellar Ataxia 42 35
2343 SWT008 Sweat Gland Benign Neoplasm 35
2344 c SPN299 Spinocerebellar Ataxia 20 35
2345 c SPN095 Spinocerebellar Ataxia 19 35
2346 c SPN098 Spinocerebellar Ataxia 25 35
2347 c SPN427 Spinocerebellar Ataxia 48 35
2348 ECC002 Eccrine Acrospiroma 34
2349 c LYM150 Lymphatic Malformation 7 34
2350 SLF015 Self-Improving Collodion Baby 34
2351 c SPN094 Spinocerebellar Ataxia 18 34
2352 c ADL027 Adult Dermatomyositis 34
2353 SBC018 Sebaceous Gland Neoplasm 34
2354 FML286 Familial Isolated Trichomegaly 34
2355 c LYM149 Lymphatic Malformation 6 34
2356 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
2357 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 33
2358 CFL005 Cafe-Au-Lait Spots, Multiple 33
2359 PGM002 Pigmented Basal Cell Carcinoma 33
2360 APC005 Apocrine Sweat Gland Neoplasm 33
2361 WRT005 Warty Dyskeratoma 33
2362 MCP039 Mucoepithelial Dysplasia, Hereditary 33
2363 KPP002 Keppen-Lubinsky Syndrome 32
2364 CLR007 Colorado Tick Fever 32
2365 SKN001 Skin Angiosarcoma 32
2366 SKN024 Skin Fragility-Woolly Hair Syndrome 32
2367 HYP346 Hypotrichosis and Recurrent Skin Vesicles 32
2368 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 32
2369 PLM135 Palmoplantar Keratoderma, Bothnian Type 31
2370 DPT001 Dipetalonemiasis 31
2371 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 31
2372 NPH018 Nephrogenic Systemic Fibrosis 31
2373 P RRL003 Rare Lymphatic Malformation 31
2374 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 31
2375 P DYS023 Dyschromatosis Universalis Hereditaria 31
2376 c ALB017 Albinism, Oculocutaneous, Type Vi 30
2377 SKN018 Skin Hemangioma 30
2378 PLV001 Pelvic Lipomatosis 30
2379 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 30
2380 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 30
2381 P SKN009 Skin Granular Cell Tumor 30
2382 SKN002 Skin Lipoma 30
2383 P HRD022 Hordeolum 30
2384 P FHT001 Fh Tumor Predisposition Syndrome 30
2385 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
2386 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 29
2387 c SPN372 Spinocerebellar Ataxia 43 29
2388 OLM002 Olmsted Syndrome, X-Linked 29
2389 PTY004 Pityriasis Lichenoides 29
2390 CTN027 Cutaneous Mastocytoma 29
2391 OMS001 Omsk Hemorrhagic Fever 29
2392 ELJ002 Elejalde Neuroectodermal Melanolysosomal Syndrome 28
2393 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
2394 c SPN421 Spinocerebellar Ataxia 47 28
2395 CHR679 Chromium Allergic Contact Dermatitis 28
2396 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 28
2397 ACT164 Actinic Prurigo 28
2398 HYP180 Hypertrichosis Lanuginosa Congenita 28
2399 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
2400 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
2401 NVD003 Nevoid Hypermelanosis, Linear and Whorled 27
2402 PLM137 Palmoplantar Keratoderma and Woolly Hair 27
2403 c SPN420 Spinocerebellar Ataxia 46 26
2404 ERY069 Erythrokeratoderma ''en Cocardes'' 26
2405 c SPN458 Spinocerebellar Ataxia 49 26
2406 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 26
2407 c SPN323 Spinocerebellar Ataxia 41 26
2408 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
2409 c SPN455 Spinocerebellar Ataxia, Autosomal Recessive 31 26
2410 SCR025 Scarf Syndrome 26
2411 NVR001 Nievergelt Syndrome 26
2412 ECC001 Eccrine Papillary Adenocarcinoma 26
2413 FCL046 Focal Facial Dermal Dysplasia 4 25
2414 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
2415 ECC007 Eccrine Sweat Gland Cancer 25
2416 LNR001 Leiner Disease 25
2417 c AXN012 Axenfeld-Rieger Syndrome, Type 2 25
2418 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 24
2419 LPS019 Lupus Erythematosus Tumidus 24
2420 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
2421 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 24
2422 c LYM147 Lymphatic Malformation 3 24
2423 c LYM148 Lymphatic Malformation 4 24
2424 GST108 Gist-Plus Syndrome 24
2425 LLS001 Lelis Syndrome 24
2426 EPD107 Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss 24
2427 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
2428 P ADL037 Adult Xanthogranuloma 23
2429 EYL006 Eyelid Benign Neoplasm 23
2430 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
2431 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 23
2432 FLY003 Flynn-Aird Syndrome 23
2433 P ATM076 Autoimmune Retinopathy 22
2434 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
2435 DRM023 Dermoodontodysplasia 22
2436 c SPN459 Spinocerebellar Ataxia, Autosomal Recessive 32 22
2437 c CHR715 Charcot-Marie-Tooth Disease, Axonal, Type 2gg 22
2438 1CH001 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 22
2439 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 22
2440 c PLY137 Polydactyly, Preaxial Iii 22
2441 c CHR716 Charcot-Marie-Tooth Disease, Axonal, Type 2hh 22
2442 FLL050 Full Schwannomatosis 21
2443 9Q3002 9q33.3q34.11 Microdeletion Syndrome 21
2444 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 21
2445 CRN224 Craniofaciofrontodigital Syndrome 21
2446 c LYM155 Lymphatic Malformation 8 21
2447 PLM177 Pilomatrix Carcinoma 21
2448 c LYM159 Lymphatic Malformation 10 21
2449 RMB001 Rombo Syndrome 21
2450 c CHR714 Charcot-Marie-Tooth Disease, Axonal, Type 2ff 20
2451 c SPN259 Spinocerebellar Ataxia 32 20
2452 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
2453 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
2454 SCL051 Scalp Defects and Postaxial Polydactyly 20
2455 CTN002 Cutaneous Mucoepidermoid Carcinoma 20
2456 ULR001 Ulerythema Ophryogenesis 20
2457 EPB002 Epiblepharon 19
2458 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 19
2459 ECC006 Eccrine Mixed Tumor of Skin 19
2460 STT008 Steatocystoma Multiplex with Natal Teeth 19
2461 c LYM158 Lymphatic Malformation 9 19
2462 c SKN012 Skin Carcinoma in Situ 19
2463 GST056 Gastrocutaneous Syndrome 18
2464 c CHR731 Charcot-Marie-Tooth Disease, Axonal, Type 2ii 18
2465 CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18
2466 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
2467 ICH080 Ichthyosis Alopecia Eclabion Ectropion Intellectual Disability 18
2468 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 18
2469 EPD010 Epidermal Appendage Tumor 18
2470 ANL013 Anal Margin Basal Cell Carcinoma 17
2471 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 17
2472 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
2473 TRC111 Trichodysplasia-Xeroderma 17
2474 FLL021 Follicular Basal Cell Carcinoma 17
2475 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 17
2476 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 17
2477 c LYM160 Lymphatic Malformation 11 17
2478 ODN008 Odontomicronychial Dysplasia 17
2479 c SPN107 Spinocerebellar Ataxia 9 16
2480 ANL007 Anal Margin Squamous Cell Carcinoma 16
2481 c LYM146 Lymphatic Malformation 2 16
2482 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 16
2483 HLL006 Halal Setton Wang Syndrome 16
2484 VLV049 Vulvar Basal Cell Carcinoma 15
2485 APL011 Aplasia Cutis Myopia 15
2486 SKN074 Skin Nasal Cell Carcinoma with Sebaceous Differentiation 15
2487 CLS055 Classic Pyoderma Gangrenosum 15
2488 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 15
2489 VGT002 Vegetative Pyoderma Gangrenosum 14
2490 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 14
2491 CHN047 Chondroectodermal Dysplasia with Night Blindness 14
2492 SKN004 Skin Amelanotic Melanoma 14
2493 GNN001 Genuine Diffuse Phlebectasia 13
2494 c NDP001 Ndp-Related Retinopathies 13
2495 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 13
2496 RRP024 Rare Photodermatosis 12
2497 PST107 Pustular Pyoderma Gangrenosum 12
2498 c DYS091 Dyschromatosis Universalis Hereditaria 2 12
2499 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
2500 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 11
2501 HYP489 Hypotrichosis-Deafness Syndrome 11
2502 SKN008 Skin Glomus Tumor 11
2503 c MLG050 Malignant Granular Cell Skin Tumor 10
2504 c IND015 Indolent Primary Cutaneous B-Cell Lymphoma 9
2505 ACN008 Acantholytic Squamous Cell Skin Carcinoma 9
2506 HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 9
2507 NNN006 Noninfectious Dermatoses of Eyelid 9
2508 HRM024 Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency 8
2509 PZ1002 Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis 8
2510 CBL009 Cobalt Allergic Contact Dermatitis 7
2511 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 7
2512 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
2513 ALL005 Allergic Contact Dermatitis of Eyelid 7
2514 SMD014 Samd9l-Associated Autoinflammatory Syndrome 7
2515 BNZ004 Benzoic Acid Allergic Contact Dermatitis 6
2516 SKN007 Skin Meningioma 6
2517 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 6
2518 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
2519 PLN004 Plantar Verrucous Skin Carcinoma 6
2520 NND012 N,n'-Diethylthiourea Allergic Contact Dermatitis 6
2521 4TR001 4-Tert-Butylphenol Allergic Contact Dermatitis 6
2522 F12001 F12-Associated Cold Autoinflammatory Syndrome 6
2523 PHK010 Phakomatosis Spilorosea 6
2524 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
2525 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
2526 DPH027 Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis 5
2527 RRS013 Rare Skin Tumor or Hamartoma 4
2528 c CNG612 Congenital Primary Lymphedema Without Systemic or Visceral Involvement 4
2529 DSR088 Disorder with Multisystemic Involvement and Primary Lymphedema 4
2530 OTH019 Other Metabolic Disease with Skin Involvement 4
2531 RBL001 Rubella 59
2532 MLL001 Molluscum Contagiosum 49
2533 ADS001 Adiaspiromycosis 22
2534 SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 55
2535 P FML011 Familial Adenomatous Polyposis 73
2536 P WSK001 Wiskott-Aldrich Syndrome 72
2537 CST001 Costello Syndrome 70
2538 ADL002 Adult Syndrome 68
2539 c PSD108 Pseudohypoparathyroidism, Type Ia 67
2540 c BSL007 Basal Cell Carcinoma 67
2541 c FML346 Familial Adenomatous Polyposis 1 67
2542 c ART144 Arthrogryposis, Distal, Type 1a 65
2543 EHL052 Ehlers-Danlos Syndrome, Vascular Type 65
2544 c CNG012 Congenital Generalized Lipodystrophy 65
2545 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 64
2546 P BLD062 Bile Duct Cancer 63
2547 YLL002 Yellow Fever 62
2548 DRM014 Dermatofibrosarcoma Protuberans 62
2549 P DST002 Distal Arthrogryposis 61
2550 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
2551 CHL028 Childhood Type Dermatomyositis 61
2552 HYP706 Hypermobile Ehlers-Danlos Syndrome 60
2553 c ART061 Arthrogryposis, Distal, Type 2a 60
2554 c FML347 Familial Adenomatous Polyposis 2 60
2555 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
2556 TTZ003 Tietz Albinism-Deafness Syndrome 59
2557 IMM140 Immunodeficiency 47 59
2558 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 59
2559 PLM026 Pilomatrixoma 59
2560 NTR042 Neutrophilic Dermatosis, Acute Febrile 59
2561 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 58
2562 c CCK008 Cockayne Syndrome a 58
2563 P ADM011 Adams-Oliver Syndrome 57
2564 VRG001 Variegate Porphyria 57
2565 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
2566 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 57
2567 c PSD066 Pseudohypoparathyroidism, Type Ib 56
2568 P ECT006 Ectodermal Dysplasia 56
2569 P EPD116 Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia 56
2570 WYR002 Weyers Acrofacial Dysostosis 56
2571 c ART120 Arthrogryposis, Distal, Type 3 55
2572 VGT001 Vogt-Koyanagi-Harada Disease 55
2573 PPL058 Papilloma of Choroid Plexus 55
2574 P FRN036 Frontonasal Dysplasia 1 55
2575 P PSD015 Pseudohypoparathyroidism 55
2576 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
2577 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 54
2578 ACR014 Acral Lentiginous Melanoma 54
2579 c ART119 Arthrogryposis, Distal, Type 5 53
2580 SCL046 Scalp-Ear-Nipple Syndrome 52
2581 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
2582 P NLX004 Neu-Laxova Syndrome 1 51
2583 c HMC010 Hemochromatosis, Type 3 51
2584 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 50
2585 c WRD020 Waardenburg Syndrome, Type 4a 50
2586 c ART155 Arthrogryposis, Distal, Type 2b1 50
2587 TRN029 Transient Bullous Dermolysis of the Newborn 50
2588 GRD005 Geroderma Osteodysplasticum 50
2589 MNL001 Monilethrix 49
2590 HLC001 Holocarboxylase Synthetase Deficiency 49
2591 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 48
2592 DYS002 Dysplastic Nevus Syndrome 48
2593 c ART147 Arthrogryposis, Distal, Type 7 48
2594 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
2595 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
2596 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 46
2597 P SML001 Small Cell Carcinoma 46
2598 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 46
2599 LPM010 Lipomatosis, Multiple Symmetric 45
2600 c LRG001 Large Cell Carcinoma 45
2601 MLD006 Mal De Meleda 45
2602 MLN073 Melanosis, Neurocutaneous 45
2603 WRN004 Wrinkly Skin Syndrome 44
2604 BSN001 Basan Syndrome 44
2605 TRM011 Terminal Osseous Dysplasia 44
2606 BJR001 Bjornstad Syndrome 43
2607 c ART104 Arthrogryposis, Distal, Type 5d 43
2608 c NLX003 Neu-Laxova Syndrome 2 43
2609 TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 43
2610 ICH020 Ichthyosis Prematurity Syndrome 42
2611 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 42
2612 RTC008 Reticulate Acropigmentation of Kitamura 42
2613 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 42
2614 c ADM005 Adams-Oliver Syndrome 1 42
2615 SCH037 Schinzel-Giedion Midface Retraction Syndrome 42
2616 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 41
2617 c ART157 Arthrogryposis, Distal, Type 2b3 41
2618 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 40
2619 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
2620 KMR001 Kimura Disease 40
2621 SYR002 Syringocystadenoma Papilliferum 40
2622 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
2623 GLT011 Glutamine Deficiency, Congenital 38
2624 MHV001 Mahvash Disease 38
2625 c FML299 Familial Adenomatous Polyposis 3 38
2626 PNS002 Penis Carcinoma in Situ 38
2627 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
2628 EHR002 Ehrlichiosis 38
2629 c ART156 Arthrogryposis, Distal, Type 2b2 37
2630 c FRN033 Frontonasal Dysplasia 2 37
2631 c ART112 Arthrogryposis, Distal, Type 10 37
2632 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36
2633 MLG007 Malignant Skin Fibrous Histiocytoma 36
2634 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
2635 c MYF007 Myofibromatosis, Infantile, 1 36
2636 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 35
2637 CLD014 Cole Disease 35
2638 c ART168 Arthrogryposis, Distal, Type 1c 35
2639 CHR554 Chromosome 17q11.2 Deletion Syndrome 34
2640 c ADM007 Adams-Oliver Syndrome 2 34
2641 BCK005 Becker Nevus Syndrome 34
2642 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 34
2643 NVS007 Nevus of Ota 33
2644 c ADM010 Adams-Oliver Syndrome 5 33
2645 HDR004 Hidradenoma 33
2646 SHH004 Shaheen Syndrome 32
2647 c PRP091 Porphyria Cutanea Tarda, Type I 32
2648 c WSK002 Wiskott-Aldrich Syndrome 2 31
2649 GRN032 Granulomatous Slack Skin Disease 31
2650 c PHL010 Peho-Like Syndrome 30
2651 c ART060 Arthrogryposis, Distal, Type 1b 30
2652 P ALB003 Albinism-Deafness Syndrome 30
2653 CTN013 Cutaneous Anthrax 30
2654 MCR119 Microtia, Hearing Impairment, and Cleft Palate 30
2655 c FRN032 Frontonasal Dysplasia 3 29
2656 MRL006 Meralgia Paraesthetica, Familial 29
2657 c FML339 Familial Adenomatous Polyposis 4 29
2658 c PSD104 Pseudohypoparathyroidism, Type Ii 29
2659 P PRT259 Proteasome-Associated Autoinflammatory Syndrome 28
2660 c ART128 Arthrogryposis, Distal, Type 6 27
2661 c ART131 Arthrogryposis, Distal, Type 4 27
2662 LMB076 Lumbar Syndrome 27
2663 c ADM009 Adams-Oliver Syndrome 4 27
2664 JNT001 Joint Laxity, Familial 26
2665 MN1002 Man1b1-Cdg 26
2666 c BSL011 Basal Cell Carcinoma, Multiple 26
2667 c ADM012 Adams-Oliver Syndrome 6 26
2668 ECC008 Eccrine Sweat Gland Neoplasm 25
2669 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 25
2670 KRT066 Keratosis, Focal Palmoplantar and Gingival 25
2671 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 25
2672 c CHR724 Charcot-Marie-Tooth Disease, Demyelinating, Type 1i 24
2673 c ADM008 Adams-Oliver Syndrome 3 24
2674 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 23
2675 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
2676 c CHR725 Charcot-Marie-Tooth Disease, Demyelinating, Type 1h 23
2677 CHN040 Choanal Atresia and Lymphedema 23
2678 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 23
2679 PNS008 Penis Basal Cell Carcinoma 22
2680 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 22
2681 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 21
2682 c BSL034 Basal Cell Carcinoma 7 21
2683 PHK006 Phakomatosis Pigmentokeratotica 19
2684 MLN018 Moloney Syndrome 19
2685 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 19
2686 c ART175 Arthrogryposis, Distal, Type 11 19
2687 c ART054 Arthrogryposis, Distal, Type 2e 18
2688 HND005 Hand and Foot Deformity with Flat Facies 18
2689 INF127 Infective Dermatitis Associated with Htlv-1 18
2690 c SX2003 Six2-Related Frontonasal Dysplasia 17
2691 ZRS001 Zori Stalker Williams Syndrome 17
2692 c CHR732 Charcot-Marie-Tooth Disease, Demyelinating, Type 1j 17
2693 ECT016 Ectodermal Dysplasia Blindness 16
2694 c BSL026 Basal Cell Carcinoma 3 16
2695 c WSK004 Wiskott-Aldrich Syndrome, Autosomal Dominant 16
2696 c BSL025 Basal Cell Carcinoma 2 15
2697 c BSL028 Basal Cell Carcinoma 5 15
2698 c BSL029 Basal Cell Carcinoma 6 14
2699 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 13
2700 c BSL027 Basal Cell Carcinoma 4 13
2701 c DFN345 Deafness, Congenital, with Total Albinism 13
2702 LTN031 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Sy 12
2703 c BLD001 Bile Duct Carcinoma in Situ 11
2704 MLG010 Malignant Eyelid Melanoma 8
2705 NLX005 Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency 6
2706 MSL001 Measles 61
2707 BRL010 Buruli Ulcer 47
2708 PNT003 Pinta Disease 34
2709 GRN005 Granuloma Inguinale 32
2710 c MCP050 Mucopolysaccharidosis, Type Ii 74
2711 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
2712 PPL049 Papillon-Lefevre Syndrome 70
2713 c MCP052 Mucopolysaccharidosis, Type Vi 70
2714 PTZ001 Peutz-Jeghers Syndrome 69
2715 FBR011 Fibrodysplasia Ossificans Progressiva 69
2716 c PRD013 Periodic Fever, Familial, Autosomal Dominant 68
2717 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 67
2718 P OCL013 Oculodentodigital Dysplasia 67
2719 P MLN066 Melanoma, Cutaneous Malignant 1 67
2720 MRK001 Merkel Cell Carcinoma 67
2721 c MCP001 Mucopolysaccharidosis Iii 67
2722 c MCP047 Mucopolysaccharidosis, Type Iva 65
2723 c MCP049 Mucopolysaccharidosis, Type Vii 65
2724 RFS006 Refsum Disease, Classic 64
2725 FCL009 Focal Dermal Hypoplasia 64
2726 c MCP043 Mucopolysaccharidosis, Type Iiia 64
2727 c MCP044 Mucopolysaccharidosis, Type Iiib 62
2728 c PCH015 Pachyonychia Congenita 1 62
2729 CHR288 Chronic Recurrent Multifocal Osteomyelitis 62
2730 STR039 Sturge-Weber Syndrome 62
2731 LCR014 Lacrimoauriculodentodigital Syndrome 61
2732 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
2733 ENC044 Enchondromatosis, Multiple, Ollier Type 61
2734 c MCP004 Mucopolysaccharidosis Iv 61
2735 NLP001 Nail-Patella Syndrome 61
2736 KLP010 Klippel-Trenaunay-Weber Syndrome 61
2737 c MCP045 Mucopolysaccharidosis, Type Iiic 61
2738 PBL005 Piebald Trait 59
2739 PMP006 Pemphigus Vulgaris, Familial 59
2740 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 59
2741 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 58
2742 CHR003 Cherubism 58
2743 P KHL003 Kohlschutter-Tonz Syndrome 57
2744 AND020 Androgen Insensitivity, Partial 57
2745 P INF049 Infantile Myofibromatosis 57
2746 P EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 56
2747 c MCP048 Mucopolysaccharidosis, Type Ivb 56
2748 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
2749 TRC096 Trichothiodystrophy 55
2750 c MCP046 Mucopolysaccharidosis, Type Iiid 55
2751 AMY084 Amyloidosis, Finnish Type 55
2752 PGT003 Paget Disease, Extramammary 54
2753 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 54
2754 c LYM145 Lymphatic Malformation 5 52
2755 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 51
2756 HMM003 Hemimegalencephaly 51
2757 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
2758 DYS022 Dyschromatosis Symmetrica Hereditaria 50
2759 P HLL001 Hallermann-Streiff Syndrome 50
2760 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 49
2761 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
2762