# |
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 |
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 |
|