# |
Family |
MCID |
Name |
MIFTS |
1 |
|
FRG013 |
Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) |
19 |
2 |
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
3 |
c
|
NRF023 |
Neurofibromatosis, Type Ii |
80 |
4 |
|
PFF001 |
Pfeiffer Syndrome |
79 |
5 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
6 |
P
|
LYN001 |
Lynch Syndrome |
77 |
7 |
|
PHN003 |
Phenylketonuria |
75 |
8 |
c
|
ART115 |
Aortic Valve Disease 1 |
75 |
9 |
P
|
APL001 |
Aplastic Anemia |
74 |
10 |
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
74 |
11 |
|
BSL036 |
Basal Cell Nevus Syndrome |
73 |
12 |
P
|
RTN024 |
Retinoblastoma |
73 |
13 |
P
|
MLT020 |
Multiple Sclerosis |
72 |
14 |
P
|
WSK001 |
Wiskott-Aldrich Syndrome |
72 |
15 |
P
|
BRG001 |
Brugada Syndrome |
71 |
16 |
c
|
GCH015 |
Gaucher Disease, Type I |
70 |
17 |
P
|
MYP004 |
Myopathy |
70 |
18 |
P
|
ASP006 |
Aspergillosis |
69 |
19 |
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
20 |
P
|
MYS003 |
Myasthenia Gravis |
68 |
21 |
P
|
HML033 |
Hemolytic Uremic Syndrome, Atypical 1 |
68 |
22 |
P
|
ALP004 |
Alport Syndrome |
68 |
23 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
24 |
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
25 |
|
CHD001 |
Chediak-Higashi Syndrome |
66 |
26 |
P
|
TRC072 |
Treacher Collins Syndrome 1 |
66 |
27 |
|
ART001 |
Arterial Tortuosity Syndrome |
66 |
28 |
c
|
AMY087 |
Amyloidosis, Hereditary, Transthyretin-Related |
66 |
29 |
c
|
LNG044 |
Long Qt Syndrome 1 |
66 |
30 |
|
CHG001 |
Chagas Disease |
66 |
31 |
|
HTC003 |
Hutchinson-Gilford Progeria Syndrome |
65 |
32 |
|
DMN031 |
Dementia, Lewy Body |
65 |
33 |
P
|
DYS154 |
Dystonia |
65 |
34 |
c
|
ART101 |
Aortic Valve Disease 2 |
65 |
35 |
P
|
HRP006 |
Herpes Simplex |
65 |
36 |
|
GRN037 |
Granulomatosis with Polyangiitis |
65 |
37 |
|
MYC079 |
Myoclonic Epilepsy of Lafora |
64 |
38 |
P
|
PRT008 |
Proteus Syndrome |
64 |
39 |
|
BRC012 |
Brucellosis |
64 |
40 |
P
|
PRD008 |
Periodontitis |
64 |
41 |
|
MSC007 |
Muscle Hypertrophy |
64 |
42 |
|
KND001 |
Kindler Syndrome |
64 |
43 |
c
|
PRC016 |
Pre-Eclampsia |
63 |
44 |
|
TYP007 |
Typhoid Fever |
63 |
45 |
c
|
HMP022 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
63 |
46 |
c
|
ALP101 |
Alpha-Thalassemia |
62 |
47 |
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
62 |
48 |
|
NNN026 |
Noonan Syndrome with Multiple Lentigines |
62 |
49 |
c
|
GM1007 |
Gm1 Gangliosidosis |
62 |
50 |
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
51 |
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
52 |
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
62 |
53 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
54 |
|
PHL006 |
Phelan-Mcdermid Syndrome |
62 |
55 |
|
MSL001 |
Measles |
62 |
56 |
|
NRM001 |
Neuromyelitis Optica |
61 |
57 |
P
|
ENC018 |
Encephalopathy |
61 |
58 |
|
ARG002 |
Argininosuccinic Aciduria |
61 |
59 |
|
SDD001 |
Sudden Infant Death Syndrome |
61 |
60 |
|
RGH009 |
Right Atrial Isomerism |
60 |
61 |
P
|
SCL018 |
Scoliosis |
60 |
62 |
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
60 |
63 |
c
|
LYN004 |
Lynch Syndrome I |
60 |
64 |
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
65 |
P
|
ALP009 |
Alopecia Areata |
60 |
66 |
|
STR039 |
Sturge-Weber Syndrome |
60 |
67 |
P
|
WLF004 |
Wolfram Syndrome |
60 |
68 |
|
RHM001 |
Rheumatic Fever |
60 |
69 |
P
|
SNS001 |
Sensorineural Hearing Loss |
60 |
70 |
P
|
CTR002 |
Cataract |
60 |
71 |
|
STT001 |
Status Epilepticus |
60 |
72 |
P
|
VTL004 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
60 |
73 |
P
|
RBL001 |
Rubella |
59 |
74 |
|
PRT013 |
Portal Hypertension |
59 |
75 |
|
CRT002 |
Cartilage-Hair Hypoplasia |
59 |
76 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
59 |
77 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
59 |
78 |
|
MTC097 |
Mitochondrial Complex Iv Deficiency |
59 |
79 |
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
80 |
c
|
LTN004 |
Late-Onset Retinal Degeneration |
59 |
81 |
c
|
HRD031 |
Hereditary Paraganglioma-Pheochromocytoma Syndromes |
59 |
82 |
P
|
NMN002 |
Niemann-Pick Disease |
59 |
83 |
|
HYD058 |
Hydrops, Lactic Acidosis, and Sideroblastic Anemia |
59 |
84 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
85 |
|
INC002 |
Inclusion Body Myositis |
58 |
86 |
|
ANT024 |
Anthrax Disease |
58 |
87 |
|
MTC027 |
Mitochondrial Trifunctional Protein Deficiency |
58 |
88 |
c
|
CHL140 |
Chilblain Lupus 1 |
58 |
89 |
|
ADL030 |
Adult-Onset Still's Disease |
58 |
90 |
|
ACY009 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
58 |
91 |
P
|
UVT001 |
Uveitis |
57 |
92 |
c
|
CHR417 |
Chronic Graft Versus Host Disease |
57 |
93 |
c
|
ANM036 |
Anemia, Sideroblastic, 1 |
57 |
94 |
P
|
MYM013 |
Moyamoya Disease 1 |
57 |
95 |
|
CHK001 |
Chikungunya |
57 |
96 |
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
97 |
|
ARS001 |
Aarskog-Scott Syndrome |
57 |
98 |
c
|
ANG068 |
Angioedema, Hereditary, Type I |
57 |
99 |
|
BRT005 |
Barth Syndrome |
57 |
100 |
P
|
ANG015 |
Angioedema |
57 |
101 |
|
DNN002 |
Donnai-Barrow Syndrome |
56 |
102 |
|
EPP024 |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
56 |
103 |
|
ADN027 |
Adenomyosis |
56 |
104 |
|
SFT003 |
Soft Tissue Sarcoma |
56 |
105 |
|
VRG001 |
Variegate Porphyria |
56 |
106 |
|
ANN002 |
Anencephaly |
56 |
107 |
|
NRL004 |
Neuroleptic Malignant Syndrome |
56 |
108 |
P
|
NRF002 |
Neurofibromatosis |
56 |
109 |
c
|
GRV008 |
Graves Disease 1 |
56 |
110 |
|
ANS023 |
Anus, Imperforate |
56 |
111 |
|
GDP001 |
Goodpasture Syndrome |
55 |
112 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
55 |
113 |
P
|
DRR001 |
Diarrhea |
55 |
114 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
55 |
115 |
P
|
GRV001 |
Graves' Disease |
55 |
116 |
|
HYP774 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
55 |
117 |
|
OCL020 |
Ocular Cicatricial Pemphigoid |
55 |
118 |
|
CCH002 |
Coach Syndrome |
55 |
119 |
|
FLR002 |
Filariasis |
55 |
120 |
c
|
INT064 |
Intermediate Uveitis |
55 |
121 |
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
55 |
122 |
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
55 |
123 |
|
SYN007 |
Synovitis |
54 |
124 |
|
FCT003 |
Factor X Deficiency |
54 |
125 |
|
NCR004 |
Nocardiosis |
54 |
126 |
|
RLP001 |
Relapsing Polychondritis |
54 |
127 |
P
|
HMP002 |
Hemophagocytic Lymphohistiocytosis |
54 |
128 |
P
|
ALP008 |
Alopecia |
54 |
129 |
|
RST011 |
Restrictive Dermopathy, Lethal |
54 |
130 |
|
HLL004 |
Hellp Syndrome |
54 |
131 |
|
SLP001 |
Sleeping Sickness |
54 |
132 |
P
|
BRC006 |
Brachydactyly |
53 |
133 |
|
CRM001 |
Crimean-Congo Hemorrhagic Fever |
53 |
134 |
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
135 |
|
HYP706 |
Hypermobile Ehlers-Danlos Syndrome |
53 |
136 |
|
HYP801 |
Hyperferritinemia with or Without Cataract |
53 |
137 |
P
|
KRT028 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
53 |
138 |
P
|
CRB194 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 |
53 |
139 |
P
|
RTN016 |
Retinal Degeneration |
53 |
140 |
c
|
PRD040 |
Periodontitis, Chronic |
53 |
141 |
|
INF034 |
Infective Endocarditis |
53 |
142 |
|
IRD001 |
Iridocyclitis |
53 |
143 |
|
ERD001 |
Erdheim-Chester Disease |
53 |
144 |
|
MLB001 |
Mulibrey Nanism |
53 |
145 |
|
KBG001 |
Kbg Syndrome |
53 |
146 |
|
PRN011 |
Pernicious Anemia |
53 |
147 |
c
|
FML008 |
Familial Retinoblastoma |
53 |
148 |
P
|
RTN018 |
Retinal Disease |
53 |
149 |
P
|
SLV027 |
Silver-Russell Syndrome 1 |
53 |
150 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
151 |
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
52 |
152 |
P
|
DDN001 |
Duodenal Ulcer |
52 |
153 |
c
|
FBR084 |
Fibromatosis, Gingival, 1 |
52 |
154 |
P
|
PRR016 |
Pierre Robin Syndrome |
52 |
155 |
|
END020 |
Endocardial Fibroelastosis |
52 |
156 |
|
GLC009 |
Glucosephosphate Dehydrogenase Deficiency |
52 |
157 |
P
|
ACT105 |
Acute Mountain Sickness |
52 |
158 |
P
|
NLX004 |
Neu-Laxova Syndrome 1 |
52 |
159 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
52 |
160 |
|
THR009 |
Thrombocytopenia-Absent Radius Syndrome |
52 |
161 |
|
NTR018 |
Neutrophilia, Hereditary |
52 |
162 |
c
|
INH030 |
Inherited Retinal Disorder |
51 |
163 |
c
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
51 |
164 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
165 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
51 |
166 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
51 |
167 |
|
FML026 |
Familial Lipoprotein Lipase Deficiency |
51 |
168 |
c
|
SCN036 |
Secondary Progressive Multiple Sclerosis |
51 |
169 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
51 |
170 |
|
MLT134 |
Multiple Pterygium Syndrome, Lethal Type |
51 |
171 |
c
|
BRG005 |
Brugada Syndrome 1 |
51 |
172 |
|
MGL001 |
Megaloblastic Anemia |
51 |
173 |
P
|
LCT001 |
Lactic Acidosis |
51 |
174 |
c
|
PRM108 |
Primary Progressive Multiple Sclerosis |
51 |
175 |
|
ACR013 |
Acrodysostosis |
51 |
176 |
|
ESP002 |
Esophageal Varix |
51 |
177 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
51 |
178 |
|
CLB002 |
Clubfoot |
51 |
179 |
|
CLF037 |
Cleft Lip/palate-Ectodermal Dysplasia Syndrome |
51 |
180 |
|
RSP023 |
Rasopathy |
51 |
181 |
c
|
VRL007 |
Viral Encephalitis |
51 |
182 |
c
|
BRC079 |
Brachydactyly, Type A2 |
51 |
183 |
|
CRD229 |
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism |
51 |
184 |
|
RLP003 |
Relapsing Fever |
51 |
185 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
51 |
186 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
50 |
187 |
|
WLL006 |
Wells Syndrome |
50 |
188 |
c
|
PRM012 |
Primary Polycythemia |
50 |
189 |
P
|
OVR082 |
Overgrowth Syndrome |
50 |
190 |
c
|
HNT004 |
Huntington Disease-Like 2 |
50 |
191 |
P
|
ECL001 |
Eclampsia |
50 |
192 |
c
|
GRS014 |
Griscelli Syndrome, Type 2 |
50 |
193 |
|
FLT009 |
Folate Malabsorption, Hereditary |
50 |
194 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
50 |
195 |
c
|
SVR005 |
Severe Pre-Eclampsia |
50 |
196 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
50 |
197 |
P
|
PRT096 |
Peritoneal Mesothelioma |
50 |
198 |
P
|
MTR003 |
Mitral Valve Stenosis |
50 |
199 |
P
|
GNG025 |
Gingival Fibromatosis |
50 |
200 |
c
|
HMC010 |
Hemochromatosis, Type 3 |
50 |
201 |
c
|
DYS191 |
Dystonia 1, Torsion, Autosomal Dominant |
50 |
202 |
P
|
SCK005 |
Sickle Cell Disease |
50 |
203 |
|
CYT005 |
Cytomegalovirus Retinitis |
50 |
204 |
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
205 |
c
|
AMY009 |
Amyloidosis Aa |
50 |
206 |
|
PLC008 |
Placenta Disease |
50 |
207 |
|
ECT026 |
Ectopic Pregnancy |
50 |
208 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
50 |
209 |
|
BLS002 |
Blastomycosis |
50 |
210 |
c
|
DYS119 |
Dystonia 9 |
50 |
211 |
c
|
ATX040 |
Ataxia-Telangiectasia-Like Disorder 1 |
49 |
212 |
|
ANM045 |
Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency |
49 |
213 |
|
RBF001 |
Riboflavin Deficiency |
49 |
214 |
c
|
ANM042 |
Anemia, Congenital Dyserythropoietic, Type Ii |
49 |
215 |
|
ERY004 |
Erysipelas |
49 |
216 |
P
|
ART018 |
Aortic Valve Insufficiency |
49 |
217 |
|
CRD002 |
Cri-Du-Chat Syndrome |
49 |
218 |
|
SLT005 |
Solitary Median Maxillary Central Incisor |
49 |
219 |
|
47X002 |
47,xyy |
49 |
220 |
|
SPT005 |
Spotted Fever |
49 |
221 |
|
PLM041 |
Pulmonary Valve Stenosis |
49 |
222 |
c
|
OST126 |
Osteopetrosis, Autosomal Recessive 1 |
49 |
223 |
|
WDM005 |
Wiedemann-Rautenstrauch Syndrome |
49 |
224 |
c
|
NNN010 |
Noonan Syndrome 3 |
49 |
225 |
c
|
NML002 |
Nemaline Myopathy 1 |
49 |
226 |
P
|
RCR004 |
Recurrent Respiratory Papillomatosis |
49 |
227 |
P
|
CMP008 |
Compartment Syndrome |
49 |
228 |
|
FRN020 |
Frontal Fibrosing Alopecia |
49 |
229 |
P
|
ALP061 |
Alopecia, Androgenetic, 1 |
49 |
230 |
c
|
INV001 |
Invasive Aspergillosis |
49 |
231 |
P
|
HYP828 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
49 |
232 |
|
EBL001 |
Ebola Hemorrhagic Fever |
49 |
233 |
c
|
NML003 |
Nemaline Myopathy 2 |
48 |
234 |
|
MCR020 |
Microsporidiosis |
48 |
235 |
c
|
USH035 |
Usher Syndrome Type 2 |
48 |
236 |
P
|
ATS011 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
48 |
237 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
48 |
238 |
|
PTC002 |
Potocki-Lupski Syndrome |
48 |
239 |
c
|
EPL073 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
48 |
240 |
P
|
MCL001 |
Mucolipidosis |
48 |
241 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
48 |
242 |
|
FBR032 |
Fibromuscular Dysplasia |
48 |
243 |
P
|
GND004 |
Gonadal Dysgenesis |
48 |
244 |
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
48 |
245 |
|
DRG013 |
Drug-Induced Lupus Erythematosus |
48 |
246 |
|
MGL003 |
Megalocornea |
48 |
247 |
|
VSC058 |
Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome |
48 |
248 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
48 |
249 |
P
|
MRC003 |
Mercury Poisoning |
48 |
250 |
|
NNT017 |
Neonatal Adrenoleukodystrophy |
47 |
251 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
47 |
252 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
47 |
253 |
c
|
NLX003 |
Neu-Laxova Syndrome 2 |
47 |
254 |
|
VRN004 |
Vernal Keratoconjunctivitis |
47 |
255 |
|
SPH010 |
Sphingolipidosis |
47 |
256 |
P
|
HMN032 |
Human Herpesvirus 8 |
47 |
257 |
P
|
ERY008 |
Erythromelalgia |
47 |
258 |
c
|
HMP014 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
47 |
259 |
P
|
JVN007 |
Juvenile Absence Epilepsy |
47 |
260 |
P
|
DNR001 |
Duane Retraction Syndrome |
47 |
261 |
|
TTR011 |
Tetraploidy |
47 |
262 |
|
STV007 |
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis |
47 |
263 |
P
|
KLF001 |
Kleefstra Syndrome |
47 |
264 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
47 |
265 |
P
|
JVN008 |
Juvenile Glaucoma |
47 |
266 |
c
|
CRG004 |
Crigler-Najjar Syndrome, Type Ii |
47 |
267 |
|
ATH001 |
Athabaskan Brainstem Dysgenesis Syndrome |
47 |
268 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
269 |
|
MNC019 |
Monocarboxylate Transporter 1 Deficiency |
47 |
270 |
|
PRG033 |
Progressive Non-Fluent Aphasia |
46 |
271 |
P
|
VTR007 |
Vitreoretinopathy |
46 |
272 |
c
|
CNT075 |
Central Precocious Puberty |
46 |
273 |
|
ASP004 |
Asphyxia Neonatorum |
46 |
274 |
P
|
ATM019 |
Autoimmune Polyendocrine Syndrome |
46 |
275 |
c
|
ACT076 |
Acute Myocarditis |
46 |
276 |
c
|
KNB006 |
Knobloch Syndrome 1 |
46 |
277 |
c
|
CTR098 |
Cataract 1, Multiple Types |
46 |
278 |
c
|
NML004 |
Nemaline Myopathy 3 |
46 |
279 |
P
|
TRM004 |
Trimethylaminuria |
46 |
280 |
|
MYL013 |
Myeloperoxidase Deficiency |
46 |
281 |
c
|
ALP104 |
Alport Syndrome 3, Autosomal Dominant |
46 |
282 |
c
|
LNG050 |
Long Qt Syndrome 5 |
46 |
283 |
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
46 |
284 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
46 |
285 |
c
|
ACQ010 |
Acquired Polycythemia |
46 |
286 |
|
MNG006 |
Monogenic Diabetes |
46 |
287 |
|
STT007 |
Steatocystoma Multiplex |
46 |
288 |
|
ENC010 |
Encephalocraniocutaneous Lipomatosis |
46 |
289 |
c
|
BRG004 |
Brugada Syndrome 4 |
46 |
290 |
c
|
VNW008 |
Von Willebrand Disease, Type 3 |
46 |
291 |
|
SBP004 |
Subependymoma |
46 |
292 |
c
|
BRT050 |
Bartter Syndrome, Type 2, Antenatal |
46 |
293 |
|
BRL010 |
Buruli Ulcer |
46 |
294 |
c
|
GNR039 |
Generalized Epilepsy with Febrile Seizures Plus, Type 2 |
46 |
295 |
c
|
DRR009 |
Diarrhea 6 |
46 |
296 |
|
PRX001 |
Peroxisomal Disease |
46 |
297 |
|
PST027 |
Postencephalitic Parkinson Disease |
46 |
298 |
|
GLL048 |
Glial Tumor |
45 |
299 |
P
|
HRN001 |
Horner's Syndrome |
45 |
300 |
P
|
PRD037 |
Periodontal Ehlers-Danlos Syndrome |
45 |
301 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
302 |
|
GLY031 |
Glycoproteinosis |
45 |
303 |
|
STP004 |
Staphylococcal Toxic Shock Syndrome |
45 |
304 |
c
|
PSD106 |
Pseudo-Torch Syndrome 1 |
45 |
305 |
|
JVN033 |
Juvenile Nasopharyngeal Angiofibroma |
45 |
306 |
c
|
GNR043 |
Generalized Epilepsy with Febrile Seizures Plus, Type 7 |
45 |
307 |
|
STS002 |
Situs Inversus |
45 |
308 |
|
HYP059 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
45 |
309 |
c
|
GM2006 |
Gm2 Gangliosidosis |
45 |
310 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
45 |
311 |
|
3MT013 |
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome |
45 |
312 |
P
|
DSR089 |
Disorders of Sexual Development |
45 |
313 |
c
|
LBR013 |
Leber Congenital Amaurosis 3 |
45 |
314 |
|
CLC017 |
Calcification of Joints and Arteries |
45 |
315 |
P
|
PRD021 |
Periodic Paralysis |
45 |
316 |
c
|
HMP012 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
45 |
317 |
c
|
LYM106 |
Lymphoproliferative Syndrome 1 |
45 |
318 |
P
|
OSS001 |
Ossifying Fibroma |
45 |
319 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
45 |
320 |
|
RNS001 |
Raine Syndrome |
45 |
321 |
c
|
STN011 |
Sting-Associated Vasculopathy with Onset in Infancy |
45 |
322 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
45 |
323 |
|
FSH001 |
Fish-Eye Disease |
45 |
324 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
45 |
325 |
|
HMH004 |
Hemihyperplasia, Isolated |
45 |
326 |
c
|
CTR103 |
Cataract 4, Multiple Types |
45 |
327 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
45 |
328 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
45 |
329 |
|
CSL001 |
Causalgia |
45 |
330 |
|
PLN005 |
Palindromic Rheumatism |
45 |
331 |
P
|
PSD003 |
Pseudohypoaldosteronism |
44 |
332 |
c
|
MLG002 |
Malignant Peritoneal Mesothelioma |
44 |
333 |
|
GRN017 |
Granulocytopenia |
44 |
334 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
44 |
335 |
|
PTT037 |
Pituitary Tumors |
44 |
336 |
c
|
LNG051 |
Long Qt Syndrome 6 |
44 |
337 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
44 |
338 |
P
|
SDR002 |
Siderosis |
44 |
339 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
44 |
340 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
44 |
341 |
c
|
BRC109 |
Brachydactyly, Type E1 |
44 |
342 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
343 |
|
SPN119 |
Spondylarthropathy |
44 |
344 |
c
|
ANT071 |
Anterior Segment Dysgenesis 4 |
44 |
345 |
c
|
RNG023 |
Ring Chromosome 7 |
44 |
346 |
|
SML028 |
Semilobar Holoprosencephaly |
44 |
347 |
|
ALP043 |
Alpha-2-Plasmin Inhibitor Deficiency |
44 |
348 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
349 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
44 |
350 |
|
DYS018 |
Dysostosis |
44 |
351 |
|
VLV044 |
Vulvar Intraepithelial Neoplasia |
44 |
352 |
|
GRN007 |
Granuloma Annulare |
44 |
353 |
P
|
BRN042 |
Branchiootic Syndrome |
44 |
354 |
|
CHL109 |
Childhood Apraxia of Speech |
44 |
355 |
|
IDP074 |
Idiopathic Bronchiectasis |
44 |
356 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
44 |
357 |
|
IDP033 |
Idiopathic Edema |
44 |
358 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
359 |
|
ANP009 |
Anaplastic Oligodendroglioma |
43 |
360 |
|
SDR009 |
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay |
43 |
361 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
362 |
c
|
ATM097 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
43 |
363 |
|
CLP005 |
Ciliopathy |
43 |
364 |
c
|
EPL133 |
Epilepsy, Juvenile Absence 1 |
43 |
365 |
c
|
HYP847 |
Hyper Ige Recurrent Infection Syndrome 1 |
43 |
366 |
c
|
BRT052 |
Bartter Syndrome, Type 1, Antenatal |
43 |
367 |
|
MRG013 |
Mirage Syndrome |
43 |
368 |
c
|
HYP575 |
Hypotrichosis 7 |
43 |
369 |
c
|
DYS059 |
Dystonia 16 |
43 |
370 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
43 |
371 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
43 |
372 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
373 |
P
|
SYN075 |
Syngnathia |
43 |
374 |
|
FRY002 |
Fryns Syndrome |
43 |
375 |
c
|
CHR546 |
Chronic Mountain Sickness |
43 |
376 |
P
|
EPT020 |
Epithelioid Hemangioendothelioma |
43 |
377 |
P
|
DMY001 |
Demyelinating Polyneuropathy |
43 |
378 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
379 |
|
SCH037 |
Schinzel-Giedion Midface Retraction Syndrome |
43 |
380 |
|
IDP073 |
Idiopathic Hypercalciuria |
43 |
381 |
P
|
PRP034 |
Purpura Fulminans |
43 |
382 |
c
|
ALP105 |
Alport Syndrome 2, Autosomal Recessive |
43 |
383 |
|
PMP004 |
Pemphigus Foliaceus |
43 |
384 |
|
DSC009 |
Discoid Lupus Erythematosus |
42 |
385 |
c
|
HMP013 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
42 |
386 |
|
TRP009 |
Triple X Syndrome |
42 |
387 |
|
C1Q001 |
C1q Deficiency |
42 |
388 |
|
CYT002 |
Cytokine Deficiency |
42 |
389 |
|
EHL034 |
Ehlers-Danlos Syndrome, Hypermobility Type |
42 |
390 |
|
PRS115 |
Prosthetic Joint Infection |
42 |
391 |
c
|
MCL066 |
Macular Dystrophy, Vitelliform, 2 |
42 |
392 |
|
PYR031 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
42 |
393 |
P
|
CLS010 |
Cluster Headache |
42 |
394 |
c
|
MTC116 |
Mitochondrial Myopathy, Infantile, Transient |
42 |
395 |
c
|
LYM107 |
Lymphoproliferative Syndrome 2 |
42 |
396 |
c
|
ENC057 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 |
42 |
397 |
c
|
GNR038 |
Generalized Epilepsy with Febrile Seizures Plus, Type 1 |
42 |
398 |
|
PHH001 |
Phaeohyphomycosis |
42 |
399 |
|
MTH077 |
Methylmalonic Aciduria, Cbla Type |
42 |
400 |
|
PHS023 |
Phosphoserine Aminotransferase Deficiency |
42 |
401 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
42 |
402 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
42 |
403 |
|
TRP014 |
Triploidy |
42 |
404 |
c
|
LBR009 |
Leber Congenital Amaurosis 14 |
42 |
405 |
|
INT276 |
Interatrial Communication |
42 |
406 |
P
|
STN012 |
Sting-Associated Vasculopathy, Infantile-Onset |
42 |
407 |
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
42 |
408 |
|
BTN002 |
Boutonneuse Fever |
42 |
409 |
c
|
PRG011 |
Progressive Myoclonus Epilepsy |
42 |
410 |
P
|
HYP087 |
Hypotrichosis |
42 |
411 |
P
|
RNG032 |
Ring Chromosome |
42 |
412 |
P
|
VTL001 |
Vitelliform Macular Dystrophy |
42 |
413 |
c
|
WLF009 |
Wolfram Syndrome 2 |
42 |
414 |
|
EHR002 |
Ehrlichiosis |
42 |
415 |
|
FSR001 |
Fusariosis |
42 |
416 |
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
41 |
417 |
|
FBR019 |
Fibromatosis |
41 |
418 |
c
|
HMP023 |
Hemophagocytic Lymphohistiocytosis, Familial, 5 |
41 |
419 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
41 |
420 |
c
|
PST041 |
Posterior Urethral Valves |
41 |
421 |
|
CNG134 |
Congenitally Corrected Transposition of the Great Arteries |
41 |
422 |
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
41 |
423 |
c
|
CTR132 |
Cataract 3, Multiple Types |
41 |
424 |
c
|
BRC052 |
Brachydactyly, Type B2 |
41 |
425 |
c
|
WRB003 |
Warburg Micro Syndrome 2 |
41 |
426 |
P
|
KLZ004 |
Kala-Azar 1 |
41 |
427 |
|
LCH016 |
Lichen Sclerosus Et Atrophicus |
41 |
428 |
c
|
MYS046 |
Myasthenic Syndrome, Congenital, 1a, Slow-Channel |
41 |
429 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
41 |
430 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
431 |
|
PRK003 |
Parkes Weber Syndrome |
41 |
432 |
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
433 |
|
INH001 |
Inhalation Anthrax |
41 |
434 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
41 |
435 |
|
PLG004 |
Plagiocephaly |
41 |
436 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
41 |
437 |
|
DPH019 |
Diaphanospondylodysostosis |
41 |
438 |
c
|
CTR118 |
Cataract 14, Multiple Types |
41 |
439 |
c
|
FML363 |
Familial Adult Myoclonic Epilepsy |
41 |
440 |
|
MYP093 |
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset |
41 |
441 |
|
HYP466 |
Hyperplastic Polyposis Syndrome |
41 |
442 |
c
|
EPL024 |
Epileptic Encephalopathy, Early Infantile, 12 |
41 |
443 |
|
MNT058 |
Mental Retardation, X-Linked, Syndromic, Turner Type |
41 |
444 |
P
|
SPS008 |
Spastic Ataxia |
41 |
445 |
c
|
46X002 |
46 Xx Gonadal Dysgenesis |
41 |
446 |
|
PYG006 |
Pyogenic Granuloma |
41 |
447 |
c
|
HYP581 |
Hypotrichosis 6 |
40 |
448 |
|
PLY062 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy |
40 |
449 |
c
|
CTR183 |
Cataract 38 |
40 |
450 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
40 |
451 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
452 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
40 |
453 |
|
HYL005 |
Hyaline Body Myopathy |
40 |
454 |
c
|
MYC083 |
Myoclonic Epilepsy, Familial Infantile |
40 |
455 |
c
|
ATS018 |
Autosomal Recessive Alport Syndrome |
40 |
456 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
40 |
457 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
40 |
458 |
|
IDP064 |
Idiopathic Neutropenia |
40 |
459 |
c
|
TYR011 |
Tyrosinemia, Type Iii |
40 |
460 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
40 |
461 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
40 |
462 |
|
HYP332 |
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy |
40 |
463 |
P
|
WRB001 |
Warburg Micro Syndrome |
40 |
464 |
|
BLR027 |
Blue Rubber Bleb Nevus |
40 |
465 |
|
WDH003 |
Woodhouse-Sakati Syndrome |
40 |
466 |
|
MRB001 |
Marburg Hemorrhagic Fever |
40 |
467 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
40 |
468 |
c
|
NML010 |
Nemaline Myopathy 7 |
40 |
469 |
P
|
MCR364 |
Macrodactyly |
40 |
470 |
|
PLY100 |
Polyploidy |
40 |
471 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
40 |
472 |
|
HNZ004 |
Heinz Body Anemias |
39 |
473 |
|
ORM002 |
Oromandibular Dystonia |
39 |
474 |
P
|
INT260 |
Intracranial Berry Aneurysm |
39 |
475 |
c
|
NML005 |
Nemaline Myopathy 4 |
39 |
476 |
|
HTR003 |
Heterotaxy |
39 |
477 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
39 |
478 |
|
NDL003 |
Nodular Nonsuppurative Panniculitis |
39 |
479 |
c
|
BRG007 |
Brugada Syndrome 5 |
39 |
480 |
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
39 |
481 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
39 |
482 |
P
|
CRN074 |
Coronary Artery Aneurysm |
39 |
483 |
P
|
DYS021 |
Dysautonomia |
39 |
484 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
39 |
485 |
|
WLL004 |
Wallerian Degeneration |
39 |
486 |
c
|
CTR130 |
Cataract 9, Multiple Types |
39 |
487 |
c
|
ACT004 |
Acute Diarrhea |
39 |
488 |
c
|
DYS151 |
Dystonia 25 |
39 |
489 |
|
RCK002 |
Rocky Mountain Spotted Fever |
39 |
490 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
39 |
491 |
|
SYN089 |
Syndromic X-Linked Intellectual Disability Snyder Type |
39 |
492 |
|
RTC012 |
Reticuloendotheliosis, X-Linked |
39 |
493 |
|
PCH007 |
Pouchitis |
39 |
494 |
|
CRV045 |
Cervical Intraepithelial Neoplasia |
39 |
495 |
c
|
LNG046 |
Long Qt Syndrome 11 |
39 |
496 |
c
|
HYP507 |
Hypotrichosis 1 |
39 |
497 |
P
|
NNT042 |
Neonatal Lupus Erythematosus |
39 |
498 |
|
BLL012 |
Bullous Impetigo |
39 |
499 |
c
|
BRG003 |
Brugada Syndrome 3 |
39 |
500 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
39 |
501 |
|
IND002 |
Indolent Systemic Mastocytosis |
39 |
502 |
|
SCH060 |
Schistosoma Mansoni Infection, Susceptibility/ |
39 |
503 |
|
RHM035 |
Rheumatic Fever-Related Antigen |
39 |
504 |
c
|
RTN066 |
Retinitis Pigmentosa 4 |
39 |
505 |
P
|
MNN007 |
Meningocele |
39 |
506 |
|
SLP010 |
Slipped Capital Femoral Epiphysis |
39 |
507 |
|
CMB017 |
Combined Oxidative Phosphorylation Deficiency 6 |
38 |
508 |
|
AGM004 |
Agammaglobulinemia, Non-Bruton Type |
38 |
509 |
|
SVR058 |
Severe Early-Childhood-Onset Retinal Dystrophy |
38 |
510 |
|
AMN006 |
Aminoaciduria |
38 |
511 |
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
512 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
513 |
c
|
ACQ012 |
Acquired Angioedema |
38 |
514 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
515 |
c
|
ATM075 |
Autoimmune Encephalitis |
38 |
516 |
c
|
DNR003 |
Duane Retraction Syndrome 1 |
38 |
517 |
|
NCR002 |
Necrobiosis Lipoidica |
38 |
518 |
c
|
EPP015 |
Epiphyseal Dysplasia, Multiple, 3 |
38 |
519 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
520 |
|
CHR382 |
Chromosome 18q Deletion Syndrome |
38 |
521 |
|
PRM056 |
Primrose Syndrome |
38 |
522 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
38 |
523 |
|
ALG027 |
Al-Gazali-Bakalinova Syndrome |
38 |
524 |
c
|
EPL117 |
Epileptic Encephalopathy, Early Infantile, 16 |
38 |
525 |
|
ISL109 |
Isolated Cleft Lip |
38 |
526 |
|
CHY005 |
Chylothorax, Congenital |
38 |
527 |
|
SPS019 |
Spastic Paraparesis |
38 |
528 |
|
VLV042 |
Vulvar Vestibulitis Syndrome |
38 |
529 |
|
SCR039 |
Scorpion Envenomation |
38 |
530 |
|
MYS004 |
Myiasis |
38 |
531 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
38 |
532 |
|
HRT040 |
Hirata Disease |
38 |
533 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
38 |
534 |
P
|
CNG048 |
Congenital Hepatic Fibrosis |
38 |
535 |
c
|
BRC080 |
Brachydactyly, Type A1, B |
38 |
536 |
|
SHW001 |
Shwartzman Phenomenon |
37 |
537 |
|
TNM001 |
Tinea Imbricata |
37 |
538 |
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
37 |
539 |
c
|
CTR115 |
Cataract 16, Multiple Types |
37 |
540 |
|
PRT048 |
Partial Atrioventricular Canal |
37 |
541 |
|
SPC031 |
Specific Learning Disability |
37 |
542 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
543 |
P
|
SYN059 |
Syndactyly, Type V |
37 |
544 |
|
CRD016 |
Cardiac Rupture |
37 |
545 |
|
PSD016 |
Pseudosarcomatous Fibromatosis |
37 |
546 |
|
FRN014 |
Fournier Gangrene |
37 |
547 |
|
NNL001 |
Non-Langerhans-Cell Histiocytosis |
37 |
548 |
c
|
DYS146 |
Dystonia 24 |
37 |
549 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
37 |
550 |
P
|
ANT061 |
Antenatal Bartter Syndrome |
37 |
551 |
|
STR077 |
Streptococcal Toxic-Shock Syndrome |
37 |
552 |
|
MNN021 |
Meningococcemia |
37 |
553 |
c
|
ANT084 |
Anterior Segment Dysgenesis 3 |
37 |
554 |
|
MNN001 |
Meningeal Melanocytoma |
37 |
555 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
37 |
556 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
37 |
557 |
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
37 |
558 |
|
MTC112 |
Mitochondrial Dna-Associated Leigh Syndrome |
37 |
559 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
37 |
560 |
|
PST086 |
Posterior Cortical Atrophy |
37 |
561 |
c
|
EPL103 |
Epilepsy, Familial Adult Myoclonic, 5 |
37 |
562 |
|
SYS071 |
Systemic Autoimmune Disease |
37 |
563 |
c
|
PRK070 |
Parkinson Disease 21 |
37 |
564 |
|
HYP682 |
Hypertelorism, Teebi Type |
37 |
565 |
|
MTC019 |
Metachromatic Leukodystrophy Due to Saposin B Deficiency |
36 |
566 |
|
ATN021 |
Autoinflammatory Syndrome |
36 |
567 |
P
|
PHC019 |
Pheochromocytoma-Paraganglioma |
36 |
568 |
P
|
NNP021 |
Nanophthalmos |
36 |
569 |
P
|
CNG024 |
Congenital Nystagmus |
36 |
570 |
|
MYC017 |
Mycobacterium Kansasii |
36 |
571 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
36 |
572 |
|
MLT150 |
Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia |
36 |
573 |
c
|
HYP559 |
Hypotrichosis 8 |
36 |
574 |
P
|
DNT007 |
Dentin Sensitivity |
36 |
575 |
c
|
ALB015 |
Albinism, Oculocutaneous, Type V |
36 |
576 |
c
|
RTN052 |
Retinitis Pigmentosa 23 |
36 |
577 |
|
CHR346 |
Chromosome 22q11.2 Deletion Syndrome, Distal |
36 |
578 |
c
|
CTR141 |
Cataract 21, Multiple Types |
36 |
579 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
36 |
580 |
c
|
CNR006 |
Cone-Rod Dystrophy 5 |
36 |
581 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
36 |
582 |
|
INT020 |
Intravenous Leiomyomatosis |
36 |
583 |
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
36 |
584 |
|
PHS022 |
Phosphoserine Phosphatase Deficiency |
36 |
585 |
|
SPT024 |
Spotted Fever Rickettsiosis |
36 |
586 |
|
CNT057 |
Central Centrifugal Cicatricial Alopecia |
36 |
587 |
c
|
CTR174 |
Cataract 40 |
36 |
588 |
P
|
LSS024 |
Lissencephaly with Cerebellar Hypoplasia |
36 |
589 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
36 |
590 |
c
|
NML022 |
Nemaline Myopathy 10 |
36 |
591 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
36 |
592 |
c
|
NML025 |
Nemaline Myopathy 8 |
36 |
593 |
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
36 |
594 |
|
PRN029 |
Parainfluenza Virus Type 3 |
36 |
595 |
P
|
MTP001 |
Metaphyseal Dysplasia |
36 |
596 |
|
ATH010 |
Athyreosis |
36 |
597 |
|
ASC009 |
Ascites, Chylous |
35 |
598 |
c
|
PRT134 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
35 |
599 |
|
MTG002 |
Mutagen Sensitivity |
35 |
600 |
c
|
ANT077 |
Anterior Segment Dysgenesis 1 |
35 |
601 |
|
MNS001 |
Mansonelliasis |
35 |
602 |
c
|
WLL036 |
Weill-Marchesani Syndrome 1 |
35 |
603 |
c
|
ALB016 |
Albinism, Oculocutaneous, Type Vii |
35 |
604 |
c
|
CTR129 |
Cataract 31, Multiple Types |
35 |
605 |
|
CRB108 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
35 |
606 |
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
35 |
607 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
35 |
608 |
c
|
ATM022 |
Autoimmune Myocarditis |
35 |
609 |
|
CMB043 |
Combined Oxidative Phosphorylation Deficiency 9 |
35 |
610 |
|
RFR013 |
Refractory Celiac Disease |
35 |
611 |
c
|
DYS172 |
Dystonia 27 |
35 |
612 |
c
|
CLR059 |
Ciliary Dyskinesia, Primary, 13 |
35 |
613 |
c
|
CTR170 |
Cataract 30, Multiple Types |
35 |
614 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
35 |
615 |
|
CNT106 |
Centralopathic Epilepsy |
35 |
616 |
|
CHR178 |
Chromosomal Triplication |
35 |
617 |
|
PCT001 |
Pectus Carinatum |
35 |
618 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
35 |
619 |
|
FST010 |
Fasting Hypoglycemia |
35 |
620 |
P
|
BRT040 |
Baraitser-Winter Syndrome |
35 |
621 |
P
|
MYC026 |
Myoclonus Epilepsy |
35 |
622 |
P
|
MTP005 |
Metaphyseal Anadysplasia |
35 |
623 |
|
WBR001 |
Weber Syndrome |
35 |
624 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
35 |
625 |
c
|
ATM083 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
35 |
626 |
|
PRG080 |
Progressive Non-Infectious Anterior Vertebral Fusion |
35 |
627 |
c
|
MYS048 |
Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
35 |
628 |
|
LPB001 |
Lipoblastoma |
34 |
629 |
|
XNT009 |
Xanthoma Disseminatum |
34 |
630 |
|
KSH001 |
Keshan Disease |
34 |
631 |
|
CRY019 |
Cryohydrocytosis |
34 |
632 |
|
LSN002 |
Loose Anagen Hair Syndrome |
34 |
633 |
|
MTH047 |
Methanol Poisoning |
34 |
634 |
c
|
STS007 |
Sotos Syndrome 2 |
34 |
635 |
|
HYP679 |
Hypoglossia-Hypodactylia |
34 |
636 |
c
|
TYP024 |
Type Ii Mixed Cryoglobulinemia |
34 |
637 |
c
|
HYP525 |
Hypotrichosis 2 |
34 |
638 |
|
MNT146 |
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type |
34 |
639 |
|
HNS001 |
Hansen's Disease |
34 |
640 |
|
GNR035 |
Generalized Juvenile Polyposis/juvenile Polyposis Coli |
34 |
641 |
c
|
CLR042 |
Ciliary Dyskinesia, Primary, 6 |
34 |
642 |
c
|
CLR056 |
Ciliary Dyskinesia, Primary, 10 |
34 |
643 |
c
|
CTR145 |
Cataract 44 |
34 |
644 |
c
|
RNG004 |
Ring Chromosome 1 |
34 |
645 |
|
CMB046 |
Combined Oxidative Phosphorylation Deficiency 11 |
34 |
646 |
|
HYP351 |
Hypertrichosis Universalis Congenita, Ambras Type |
34 |
647 |
|
STC004 |
Stachybotrys Chartarum |
34 |
648 |
c
|
BRC060 |
Brachydactyly, Type E2 |
34 |
649 |
c
|
BRG006 |
Brugada Syndrome 2 |
34 |
650 |
|
BWN003 |
Bowenoid Papulosis |
34 |
651 |
c
|
BRC062 |
Brachydactyly, Type D |
34 |
652 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
653 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
34 |
654 |
|
HYP223 |
Hypoplastic Right Heart Syndrome |
34 |
655 |
|
NNT024 |
Neonatal Stroke |
34 |
656 |
|
RHM034 |
Rahman Syndrome |
34 |
657 |
|
CRN302 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
34 |
658 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
34 |
659 |
c
|
PRM149 |
Primary Hypereosinophilic Syndrome |
34 |
660 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
661 |
|
WRT003 |
Warthin Tumor |
34 |
662 |
c
|
ACQ047 |
Acquired Methemoglobinemia |
34 |
663 |
c
|
MYM004 |
Moyamoya Disease 2 |
34 |
664 |
P
|
HVY001 |
Heavy Chain Disease |
34 |
665 |
|
LGH012 |
Leigh Syndrome with Leukodystrophy |
34 |
666 |
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
34 |
667 |
|
GRN022 |
Granulosa Cell Tumor of the Ovary |
34 |
668 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
34 |
669 |
|
PRX005 |
Peroxisomal Biogenesis Disorder |
34 |
670 |
|
CHR396 |
Chromosome 2p16.1-P15 Deletion Syndrome |
34 |
671 |
c
|
RST012 |
Restless Legs Syndrome 1 |
34 |
672 |
c
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
34 |
673 |
|
BRN041 |
Bornholm Eye Disease |
34 |
674 |
c
|
CLR066 |
Ciliary Dyskinesia, Primary, 2 |
34 |
675 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
34 |
676 |
c
|
INF002 |
Inflammatory Diarrhea |
34 |
677 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
33 |
678 |
c
|
RNG020 |
Ring Chromosome 4 |
33 |
679 |
|
LMN011 |
Laminopathy |
33 |
680 |
c
|
WLL040 |
Weill-Marchesani Syndrome 4 |
33 |
681 |
P
|
ACR072 |
Acrorenal Syndrome |
33 |
682 |
c
|
SCN069 |
Secondary Hemophagocytic Lymphohistiocytosis |
33 |
683 |
c
|
PRM304 |
Primary Hemophagocytic Lymphohistiocytosis |
33 |
684 |
|
MTH086 |
Methotrexate Toxicity |
33 |
685 |
|
PRX009 |
Paroxysmal Hemicrania |
33 |
686 |
c
|
WLF011 |
Wolfram-Like Syndrome, Autosomal Dominant |
33 |
687 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
33 |
688 |
|
MDM001 |
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency |
33 |
689 |
|
CHR589 |
Chromosome 17p13.3, Centromeric, Duplication Syndrome |
33 |
690 |
|
PPL050 |
Papillary Tumor of the Pineal Region |
33 |
691 |
|
PSD008 |
Pseudopapilledema |
33 |
692 |
|
NNS011 |
Nonseminomatous Germ Cell Tumor |
33 |
693 |
|
ACT064 |
Acute Necrotizing Encephalitis |
33 |
694 |
|
HMR015 |
Humeroradial Synostosis |
33 |
695 |
|
EMP011 |
Emphysema, Congenital Lobar |
33 |
696 |
|
PRL042 |
Proliferating Trichilemmal Cyst |
33 |
697 |
c
|
HYP576 |
Hypotrichosis 4 |
33 |
698 |
P
|
CXV002 |
Coxa Vara |
33 |
699 |
c
|
PRK025 |
Parkinson Disease 10 |
33 |
700 |
|
MSC020 |
Mosaic Trisomy 8 |
33 |
701 |
|
CHL107 |
Childhood-Onset Nemaline Myopathy |
33 |
702 |
|
TXC020 |
Toxic Oil Syndrome |
33 |
703 |
|
CMB077 |
Combined Oxidative Phosphorylation Deficiency 30 |
33 |
704 |
c
|
CTR111 |
Cataract 36 |
33 |
705 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
33 |
706 |
|
SPT023 |
Septate Uterus |
33 |
707 |
c
|
CLR095 |
Ciliary Dyskinesia, Primary, 19 |
33 |
708 |
c
|
HYP577 |
Hypotrichosis 13 |
33 |
709 |
P
|
PRS013 |
Prosopagnosia |
33 |
710 |
c
|
NML021 |
Nemaline Myopathy 9 |
33 |
711 |
c
|
MCL059 |
Macular Dystrophy, Patterned, 1 |
32 |
712 |
|
CHR362 |
Chromosome 17q21.31 Duplication Syndrome |
32 |
713 |
|
BWN006 |
Bowen's Disease |
32 |
714 |
|
CND006 |
Candida Glabrata |
32 |
715 |
c
|
BRC075 |
Brachydactyly, Type A1, C |
32 |
716 |
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
32 |
717 |
|
DSN002 |
Desanto-Shinawi Syndrome |
32 |
718 |
|
GBR007 |
Gabriele-De Vries Syndrome |
32 |
719 |
c
|
EPL072 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
32 |
720 |
c
|
BRG008 |
Brugada Syndrome 6 |
32 |
721 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
32 |
722 |
c
|
DYS145 |
Dystonia 23 |
32 |
723 |
c
|
EPL203 |
Epilepsy, Familial Adult Myoclonic, 2 |
32 |
724 |
|
WST010 |
West Nile Virus Infection |
32 |
725 |
|
CHR377 |
Chromosome 10q26 Deletion Syndrome |
32 |
726 |
c
|
ATM068 |
Autoimmune Hypoparathyroidism |
32 |
727 |
|
ODN005 |
Odontogenic Myxoma |
32 |
728 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
32 |
729 |
|
MLT035 |
Multifocal Choroiditis |
32 |
730 |
|
PPC001 |
Pepck 1 Deficiency |
32 |
731 |
|
PNC059 |
Punctate Inner Choroidopathy |
32 |
732 |
|
SCL025 |
Scleromyxedema |
32 |
733 |
P
|
SPN202 |
Spinocerebellar Ataxia, X-Linked 1 |
32 |
734 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
32 |
735 |
c
|
CLR106 |
Ciliary Dyskinesia, Primary, 26 |
32 |
736 |
|
HSH004 |
Hashimoto Encephalopathy |
32 |
737 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
32 |
738 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
32 |
739 |
|
WLD005 |
Wild Type Attr Amyloidosis |
32 |
740 |
|
THM005 |
Thumb Deformity |
32 |
741 |
|
ALP048 |
Alopecia Totalis |
32 |
742 |
|
HGH041 |
High-Grade Astrocytoma |
32 |
743 |
P
|
KNB001 |
Knobloch Syndrome |
32 |
744 |
|
DYS198 |
Dystonia, Focal, Task-Specific |
32 |
745 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
32 |
746 |
c
|
CTR185 |
Cataract 30 |
32 |
747 |
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
32 |
748 |
c
|
MYS059 |
Myasthenic Syndrome, Congenital, 4a, Slow-Channel |
32 |
749 |
|
MYC014 |
Mycobacterium Chelonae |
31 |
750 |
|
ISL011 |
Isolated Aniridia |
31 |
751 |
|
RMN001 |
Rumination Disorder |
31 |
752 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
31 |
753 |
c
|
ANG045 |
Angioedema, Hereditary, Type Iii |
31 |
754 |
|
ASH001 |
Asherman's Syndrome |
31 |
755 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
756 |
c
|
ATS015 |
Autosomal Dominant Alport Syndrome |
31 |
757 |
|
CYT004 |
Cytomegalic Inclusion Disease |
31 |
758 |
|
PNT003 |
Pinta Disease |
31 |
759 |
c
|
ANT083 |
Anterior Segment Dysgenesis 7 |
31 |
760 |
|
ATR048 |
Atrial Tachyarrhythmia with Short Pr Interval |
31 |
761 |
|
DRF001 |
Dirofilariasis |
31 |
762 |
c
|
BRG012 |
Brugada Syndrome 9 |
31 |
763 |
|
MRF021 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
31 |
764 |
|
MYP097 |
Myopathy with Lactic Acidosis, Hereditary |
31 |
765 |
c
|
JVN034 |
Juvenile Polyposis of Infancy |
31 |
766 |
|
INT104 |
Intravascular Papillary Endothelial Hyperplasia |
31 |
767 |
|
EXN003 |
Exencephaly |
31 |
768 |
c
|
EPL188 |
Epilepsy, Progressive Myoclonic, 10 |
31 |
769 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
31 |
770 |
P
|
HRD209 |
Hereditary Angioedema with Normal C1inh |
31 |
771 |
|
ISL061 |
Isolated Brachycephaly |
31 |
772 |
c
|
CTR102 |
Cataract 2, Multiple Types |
31 |
773 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
31 |
774 |
c
|
RNG008 |
Ring Chromosome 13 |
31 |
775 |
P
|
HRT017 |
Heart Tumor |
31 |
776 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
31 |
777 |
|
ODN006 |
Odontoma |
31 |
778 |
|
TBL008 |
Tibial Hemimelia |
31 |
779 |
|
SPS016 |
Spasmodic Dysphonia |
31 |
780 |
c
|
CNG478 |
Congenital Diarrhea |
31 |
781 |
P
|
ACT241 |
Acute Bilirubin Encephalopathy |
31 |
782 |
|
ATY016 |
Atypical Werner Syndrome |
31 |
783 |
|
CBB005 |
Cobblestone Lissencephaly |
31 |
784 |
|
DYS001 |
Dyskinetic Cerebral Palsy |
31 |
785 |
c
|
CTR097 |
Cataract 34, Multiple Types |
31 |
786 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
31 |
787 |
|
MXD032 |
Mixed Germ Cell Tumor |
31 |
788 |
|
STT009 |
Sutton Disease 2 |
30 |
789 |
c
|
HRD198 |
Hereditary Dystonia |
30 |
790 |
|
RST024 |
Rosette-Forming Glioneuronal Tumor |
30 |
791 |
P
|
CHR084 |
Chromosomal Disease |
30 |
792 |
c
|
EPL202 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
30 |
793 |
|
DFF031 |
Diffuse Alveolar Hemorrhage |
30 |
794 |
|
SGR001 |
Sugarman Brachydactyly |
30 |
795 |
|
GRN033 |
Granulomatous Mastitis |
30 |
796 |
|
GRN004 |
Granulomatous Amebic Encephalitis |
30 |
797 |
|
SNG003 |
Single Ventricular Heart |
30 |
798 |
|
MCL018 |
Macular Dystrophy, Concentric Annular |
30 |
799 |
|
WRF003 |
Warfarin Syndrome |
30 |
800 |
|
TTR014 |
Tetrasomy 18p |
30 |
801 |
c
|
BNG001 |
Benign Peritoneal Mesothelioma |
30 |
802 |
|
CHL078 |
Childhood-Onset Schizophrenia |
30 |
803 |
|
GLY078 |
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency |
30 |
804 |
c
|
JVN038 |
Juvenile Myasthenia Gravis |
30 |
805 |
|
MTR087 |
Maternal Uniparental Disomy |
30 |
806 |
c
|
RNG018 |
Ring Chromosome 22 |
30 |
807 |
|
CRN294 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
30 |
808 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
30 |
809 |
|
CRB091 |
Cerebro-Oculo-Facio-Skeletal Syndrome |
30 |
810 |
|
CHR582 |
Chromosome 3q29 Duplication Syndrome |
30 |
811 |
|
TTR012 |
Tetrasomy 9p |
30 |
812 |
c
|
ICH023 |
Ichthyosis, Acquired |
30 |
813 |
c
|
SNG011 |
Singleton-Merten Syndrome 1 |
30 |
814 |
|
CLF049 |
Cleft Lip and Alveolus |
30 |
815 |
|
ELS002 |
Elastosis Perforans Serpiginosa |
30 |
816 |
|
SLR005 |
Solar Urticaria |
30 |
817 |
|
MYP064 |
Myopericytoma |
30 |
818 |
|
CMB044 |
Combined Oxidative Phosphorylation Deficiency 14 |
30 |
819 |
|
LMB010 |
Lambert Syndrome |
30 |
820 |
P
|
SNG014 |
Singleton-Merten Syndrome |
30 |
821 |
|
RSP007 |
Respiratory Distress Syndrome, Infant |
30 |
822 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
30 |
823 |
c
|
SPS021 |
Spastic Paraplegia 10 |
30 |
824 |
|
CHR487 |
Chromosome 8q21.11 Deletion Syndrome |
30 |
825 |
|
ENG004 |
Engraftment Syndrome |
30 |
826 |
|
ATR088 |
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects |
30 |
827 |
|
IDP041 |
Idiopathic Recurrent Pericarditis |
30 |
828 |
|
QLT008 |
Qualitative or Quantitative Defects of Dysferlin |
30 |
829 |
P
|
SLW003 |
Slow-Channel Congenital Myasthenic Syndrome |
30 |
830 |
|
HYP021 |
Hypercementosis |
30 |
831 |
|
PRC051 |
Paracetamol Poisoning |
30 |
832 |
|
GNT019 |
Giant Cell Myocarditis |
30 |
833 |
|
NTR036 |
Neutropenia, Severe Congenital, X-Linked |
30 |
834 |
|
PTT063 |
Pattern Dystrophy |
29 |
835 |
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
29 |
836 |
P
|
VTR008 |
Vitreoretinal Degeneration |
29 |
837 |
c
|
EPL201 |
Epilepsy, Familial Adult Myoclonic, 1 |
29 |
838 |
c
|
HYP515 |
Hypotrichosis 3 |
29 |
839 |
|
ACT228 |
Acute Radiation Syndrome |
29 |
840 |
c
|
EPL155 |
Epilepsy, Progressive Myoclonic, 8 |
29 |
841 |
|
DFF004 |
Diffuse Peritoneal Leiomyomatosis |
29 |
842 |
|
CPP003 |
Cap Polyposis |
29 |
843 |
c
|
RTN067 |
Retinitis Pigmentosa 41 |
29 |
844 |
c
|
CLR116 |
Ciliary Dyskinesia, Primary, 29 |
29 |
845 |
c
|
CTR175 |
Cataract 24 |
29 |
846 |
c
|
WRD010 |
Waardenburg Syndrome Type 4 |
29 |
847 |
|
SPR068 |
Sporadic Pheochromocytoma/secreting Paraganglioma |
29 |
848 |
c
|
CLR069 |
Ciliary Dyskinesia, Primary, 8 |
29 |
849 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
29 |
850 |
|
DYS030 |
Dysferlinopathy |
29 |
851 |
|
OCC011 |
Occipital Encephalocele |
29 |
852 |
|
CLC010 |
Calcifying Epithelial Odontogenic Tumor |
29 |
853 |
|
LPG001 |
Lipogranulomatosis |
29 |
854 |
c
|
RNG005 |
Ring Chromosome 10 |
29 |
855 |
|
RHM015 |
Rhombencephalosynapsis |
29 |
856 |
|
OVR097 |
Ovarian Fibrothecoma |
29 |
857 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
29 |
858 |
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
859 |
c
|
CLR067 |
Ciliary Dyskinesia, Primary, 4 |
29 |
860 |
|
CHR270 |
Chromosome 9p Duplication |
29 |
861 |
|
NNH013 |
Non-Histaminic Angioedema |
29 |
862 |
|
MYC019 |
Mycobacterium Marinum |
29 |
863 |
|
FLL042 |
Folliculotropic Mycosis Fungoides |
29 |
864 |
|
SCR024 |
Sacrococcygeal Teratoma |
29 |
865 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
29 |
866 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
29 |
867 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
29 |
868 |
|
ART030 |
Aortic Arch Interruption |
29 |
869 |
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
870 |
c
|
EPL096 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
29 |
871 |
|
FRS007 |
Frias Syndrome |
29 |
872 |
c
|
LYM151 |
Lymphoproliferative Syndrome 3 |
29 |
873 |
c
|
BRN128 |
Branchiootic Syndrome 3 |
29 |
874 |
P
|
PRG139 |
Progeroid Syndrome |
28 |
875 |
|
CRN051 |
Craniofacial Microsomia |
28 |
876 |
c
|
CNR039 |
Cone-Rod Dystrophy, X-Linked, 2 |
28 |
877 |
c
|
RTN068 |
Retinitis Pigmentosa 6 |
28 |
878 |
|
PSD046 |
Pseudotrisomy 13 Syndrome |
28 |
879 |
|
KRB005 |
Krabbe Disease, Atypical, Due to Saposin a Deficiency |
28 |
880 |
c
|
SLV028 |
Silver-Russell Syndrome 3 |
28 |
881 |
c
|
EPL204 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
28 |
882 |
c
|
EPL154 |
Epilepsy, Progressive Myoclonic, 9 |
28 |
883 |
|
HMC012 |
Hemicrania Continua |
28 |
884 |
c
|
ERL003 |
Early Onset Absence Epilepsy |
28 |
885 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
28 |
886 |
|
CHR379 |
Chromosome 15q26-Qter Deletion Syndrome |
28 |
887 |
c
|
RNG022 |
Ring Chromosome 6 |
28 |
888 |
c
|
CTR121 |
Cataract 25 |
28 |
889 |
c
|
MCL070 |
Macular Dystrophy, Patterned, 3 |
28 |
890 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
28 |
891 |
P
|
CRN249 |
Cornea Plana |
28 |
892 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
28 |
893 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
28 |
894 |
|
IDP034 |
Idiopathic Central Precocious Puberty |
28 |
895 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
28 |
896 |
c
|
DRR018 |
Diarrhea 9 |
28 |
897 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
28 |
898 |
c
|
SPS091 |
Spastic Paraplegia 4 |
28 |
899 |
|
HYP808 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration |
28 |
900 |
c
|
CLR102 |
Ciliary Dyskinesia, Primary, 17 |
28 |
901 |
|
TRC110 |
Tracheobronchial Stenosis, Congenital |
28 |
902 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
28 |
903 |
|
LPD001 |
Lipid Pneumonia |
28 |
904 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
28 |
905 |
c
|
DNR004 |
Duane Retraction Syndrome 2 |
28 |
906 |
c
|
PLM121 |
Pulmonary Hypertension, Primary, 4 |
28 |
907 |
c
|
PSD107 |
Pseudo-Torch Syndrome 2 |
28 |
908 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
28 |
909 |
|
HYP638 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
28 |
910 |
|
ATH004 |
Athetosis |
28 |
911 |
|
BRL001 |
Brill-Zinsser Disease |
28 |
912 |
|
TRP020 |
Tropical Endomyocardial Fibrosis |
28 |
913 |
c
|
CTR166 |
Cataract 33, Multiple Types |
28 |
914 |
|
SRN002 |
Sirenomelia |
28 |
915 |
c
|
CLR104 |
Ciliary Dyskinesia, Primary, 15 |
28 |
916 |
|
PDT027 |
Pediatric Ulcerative Colitis |
28 |
917 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
28 |
918 |
c
|
3MT021 |
3-Methylglutaconic Aciduria, Type Viii |
28 |
919 |
c
|
NML007 |
Nemaline Myopathy 6 |
28 |
920 |
|
PTN004 |
Patent Ductus Venosus |
28 |
921 |
c
|
PRG140 |
Progressive Myoclonus Epilepsy 4 |
28 |
922 |
c
|
CTR187 |
Cataract 48 |
28 |
923 |
|
CLV004 |
Calvarial Hyperostosis |
28 |
924 |
c
|
HML035 |
Hemolytic Uremic Syndrome, Atypical 2 |
28 |
925 |
c
|
CLR053 |
Ciliary Dyskinesia, Primary, 11 |
28 |
926 |
c
|
SVR012 |
Severe Congenital Neutropenia Autosomal Dominant |
28 |
927 |
c
|
MTC074 |
Metachromatic Leukodystrophy, Adult Form |
28 |
928 |
|
MSM016 |
Mesomelic Dysplasia, Kantaputra Type |
28 |
929 |
|
HLP004 |
Holoprosencephaly, Recurrent Infections, and Monocytosis |
28 |
930 |
|
PRK076 |
Porokeratosis 2, Palmar, Plantar, and Disseminated Type |
28 |
931 |
c
|
CTR158 |
Cataract 37 |
27 |
932 |
|
STC017 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
27 |
933 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
27 |
934 |
|
CTN019 |
Cutaneous Polyarteritis Nodosa |
27 |
935 |
|
KLB004 |
Klebsiella Infection |
27 |
936 |
c
|
CLR135 |
Ciliary Dyskinesia, Primary, 7 |
27 |
937 |
|
CMB071 |
Combined Oxidative Phosphorylation Deficiency 27 |
27 |
938 |
P
|
TRS029 |
Trisomy 1q |
27 |
939 |
|
TRC038 |
Tracheobronchomegaly |
27 |
940 |
|
CNG506 |
Congenital Amyoplasia |
27 |
941 |
|
CCN009 |
Cocaine Intoxication |
27 |
942 |
c
|
CTR131 |
Cataract 17, Multiple Types |
27 |
943 |
|
MCR365 |
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 |
27 |
944 |
c
|
EPL053 |
Epilepsy, Familial Adult Myoclonic, 3 |
27 |
945 |
|
BRN055 |
Bronchogenic Cyst |
27 |
946 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
27 |
947 |
|
CTR027 |
Cataract-Glaucoma |
27 |
948 |
c
|
PRT063 |
Proteus-Like Syndrome |
27 |
949 |
P
|
NNT006 |
Neonatal Myasthenia Gravis |
27 |
950 |
|
CNG065 |
Congenital Contractures |
27 |
951 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
27 |
952 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
27 |
953 |
c
|
CLR091 |
Ciliary Dyskinesia, Primary, 14 |
27 |
954 |
|
FRN022 |
Frontofacionasal Dysplasia |
27 |
955 |
|
CHR190 |
Chromosome 12p Duplication |
27 |
956 |
|
ARG004 |
Argyria |
27 |
957 |
c
|
KRT078 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
27 |
958 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
959 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
960 |
c
|
CTR125 |
Cataract 7 |
27 |
961 |
c
|
ALT008 |
Alternating Hemiplegia of Childhood 1 |
27 |
962 |
c
|
RNG007 |
Ring Chromosome 12 |
27 |
963 |
c
|
TRC073 |
Treacher Collins Syndrome 2 |
27 |
964 |
|
NRL008 |
Neural Crest Tumor |
27 |
965 |
c
|
TRC071 |
Treacher Collins Syndrome 3 |
27 |
966 |
|
STR007 |
Stress Polycythemia |
27 |
967 |
|
CYT018 |
Cytochrome P450 2d6 Variant |
27 |
968 |
|
ANP007 |
Anaplastic Ganglioglioma |
27 |
969 |
c
|
RNG010 |
Ring Chromosome 15 |
27 |
970 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
27 |
971 |
|
MYL080 |
Myalgic Encephalomyelitis/chronic Fatigue Syndrome |
27 |
972 |
|
PLS031 |
Plastic Bronchitis |
27 |
973 |
|
CHR209 |
Chromosome 17p Duplication |
27 |
974 |
c
|
CTR124 |
Cataract 10, Multiple Types |
27 |
975 |
|
HMX003 |
Heme Oxygenase 1 Deficiency |
27 |
976 |
c
|
MYS062 |
Myasthenic Syndrome, Congenital, 2a, Slow-Channel |
27 |
977 |
|
MCR310 |
Microgastria-Limb Reduction Defects Association |
27 |
978 |
|
KCN010 |
Kcnq2-Related Disorders |
27 |
979 |
|
LRY026 |
Laryngeal Cleft |
27 |
980 |
c
|
ERL012 |
Early-Onset Glaucoma |
27 |
981 |
|
PRM050 |
Primary Orthostatic Tremor |
27 |
982 |
|
THR032 |
Thoracolaryngopelvic Dysplasia |
27 |
983 |
|
END051 |
Endolymphatic Sac Tumor |
27 |
984 |
P
|
CRY006 |
Cryofibrinogenemia |
27 |
985 |
|
DPH012 |
Diphallia |
27 |
986 |
P
|
IDP090 |
Idiopathic Eosinophilic Pneumonia |
27 |
987 |
|
ACR099 |
Acrofacial Dysostosis, Catania Type |
27 |
988 |
|
PSD026 |
Pseudoainhum |
27 |
989 |
|
LDD006 |
Ledderhose Disease |
27 |
990 |
c
|
CLR123 |
Ciliary Dyskinesia, Primary, 37 |
27 |
991 |
|
FXC001 |
Foix Chavany Marie Syndrome |
27 |
992 |
|
RFR007 |
Refractory Anemia with Excess Blasts in Transformation |
27 |
993 |
|
CRL001 |
Cerulean Cataract |
27 |
994 |
|
IGG014 |
Igg4-Related Sclerosing Cholangitis |
26 |
995 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
26 |
996 |
|
OCL030 |
Oculoauriculofrontonasal Syndrome |
26 |
997 |
c
|
HYP528 |
Hypotrichosis 11 |
26 |
998 |
|
MST020 |
Mast Cell Activation Syndrome |
26 |
999 |
|
HMC001 |
Homocarnosinosis |
26 |
1000 |
c
|
LM2001 |
Lama2-Related Muscular Dystrophy |
26 |
1001 |
c
|
RNG015 |
Ring Chromosome 2 |
26 |
1002 |
P
|
MCL035 |
Macular Dystrophy, Retinal, 2 |
26 |
1003 |
|
CMP093 |
Complement Component 8 Deficiency, Type I |
26 |
1004 |
|
STR033 |
Storm Syndrome |
26 |
1005 |
c
|
RNG024 |
Ring Chromosome 8 |
26 |
1006 |
c
|
BRT039 |
Baraitser-Winter Syndrome 2 |
26 |
1007 |
c
|
SYS066 |
Systemic Polyarteritis Nodosa |
26 |
1008 |
|
THY098 |
Thyroid Ectopia |
26 |
1009 |
|
HTT002 |
Hutterite Cerebroosteonephrodysplasia Syndrome |
26 |
1010 |
|
SRC011 |
Sarcocystosis |
26 |
1011 |
|
MCR302 |
Macrostomia, Isolated |
26 |
1012 |
|
DFC001 |
Defective Apolipoprotein B-100 |
26 |
1013 |
c
|
PRG147 |
Progressive Myoclonus Epilepsy 8 |
26 |
1014 |
|
CMP035 |
Complete Atrioventricular Canal |
26 |
1015 |
c
|
DYS040 |
Dyskeratosis Congenita Autosomal Recessive |
26 |
1016 |
c
|
ALT007 |
Alternating Hemiplegia of Childhood 2 |
26 |
1017 |
c
|
NNP011 |
Nanophthalmos 2 |
26 |
1018 |
|
DVL022 |
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair |
26 |
1019 |
|
MYC018 |
Mycobacterium Malmoense |
26 |
1020 |
|
IGP001 |
Iga Pemphigus |
26 |
1021 |
P
|
SPS012 |
Spastic Paraplegia 3a |
26 |
1022 |
P
|
PST016 |
Posterior Polar Cataract |
26 |
1023 |
|
CTR014 |
Cataract Microcornea Syndrome |
26 |
1024 |
|
ACT094 |
Acute Articular Rheumatism |
26 |
1025 |
c
|
JVN015 |
Juvenile Huntington Disease |
26 |
1026 |
c
|
RTN065 |
Retinitis Pigmentosa 36 |
26 |
1027 |
P
|
PLM069 |
Pulmonary Venous Return Anomaly |
26 |
1028 |
P
|
QLT011 |
Qualitative or Quantitative Defects of Sarcoglycan |
26 |
1029 |
c
|
MLG145 |
Malignant Epithelioid Hemangioendothelioma |
26 |
1030 |
c
|
CLR097 |
Ciliary Dyskinesia, Primary, 23 |
26 |
1031 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
26 |
1032 |
|
SPC030 |
Specific Language Disorder |
26 |
1033 |
|
CHR248 |
Chromosome 4p Duplication |
26 |
1034 |
P
|
MCR327 |
Microcephaly, Short Stature, and Limb Abnormalities |
26 |
1035 |
c
|
CLR125 |
Ciliary Dyskinesia, Primary, 33 |
26 |
1036 |
|
ETH012 |
Ethylene Glycol Poisoning |
26 |
1037 |
|
SDH011 |
Sedoheptulokinase Deficiency |
26 |
1038 |
|
PRQ002 |
Paraquat Poisoning |
26 |
1039 |
|
APR009 |
Aprosencephaly Syndrome |
26 |
1040 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
26 |
1041 |
c
|
HML034 |
Hemolytic Uremic Syndrome, Atypical 3 |
26 |
1042 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
26 |
1043 |
c
|
CLR114 |
Ciliary Dyskinesia, Primary, 30 |
26 |
1044 |
c
|
BRG010 |
Brugada Syndrome 8 |
26 |
1045 |
|
PRT085 |
Peritoneal Cystic Mesothelioma |
26 |
1046 |
|
PNS015 |
Penoscrotal Transposition |
26 |
1047 |
|
FBR028 |
Fibrosing Mediastinitis |
26 |
1048 |
|
TCK002 |
Tick Paralysis |
26 |
1049 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
1050 |
|
PLM189 |
Pulmonary Arterial Hypertension Associated with Connective Tissue Disease |
26 |
1051 |
c
|
ADL080 |
Adult Acute Respiratory Distress Syndrome |
26 |
1052 |
c
|
CLR094 |
Ciliary Dyskinesia, Primary, 28 |
26 |
1053 |
P
|
VCT008 |
Vacterl with Hydrocephalus |
26 |
1054 |
|
CRN266 |
Craniofacial Dyssynostosis with Short Stature |
26 |
1055 |
c
|
MNS008 |
Monosomy 21 |
26 |
1056 |
c
|
CHL114 |
Chilblain Lupus 2 |
26 |
1057 |
|
CNG357 |
Congenital Symblepharon |
25 |
1058 |
|
CRY010 |
Cryptophthalmos |
25 |
1059 |
c
|
HML037 |
Hemolytic Uremic Syndrome, Atypical 5 |
25 |
1060 |
c
|
SPS092 |
Spastic Paraplegia 11 |
25 |
1061 |
c
|
CTR182 |
Cataract 23, Multiple Types |
25 |
1062 |
P
|
HRD207 |
Hereditary Transthyretin Amyloidosis |
25 |
1063 |
P
|
FML337 |
Familial Chilblain Lupus |
25 |
1064 |
|
STC018 |
Stac3 Disorder |
25 |
1065 |
c
|
HML032 |
Hemolytic Uremic Syndrome, Atypical 4 |
25 |
1066 |
|
XNT002 |
Xanthogranulomatous Cholecystitis |
25 |
1067 |
|
SND005 |
Sandifer Syndrome |
25 |
1068 |
|
ATS301 |
Autosomal Dominant Epilepsy with Auditory Features |
25 |
1069 |
|
ULN023 |
Ulnar Hypoplasia |
25 |
1070 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
25 |
1071 |
|
MCR326 |
Microcephaly-Micromelia Syndrome |
25 |
1072 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
25 |
1073 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1074 |
|
OLG014 |
Oligocone Trichromacy |
25 |
1075 |
|
THY042 |
Thymic Epithelial Tumor |
25 |
1076 |
|
PRX086 |
Paroxysmal Exertion-Induced Dyskinesia |
25 |
1077 |
c
|
SPS013 |
Spastic Paraplegia 8 |
25 |
1078 |
|
CHR266 |
Chromosome 8p23.1 Deletion |
25 |
1079 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
25 |
1080 |
|
EXR007 |
Exercise-Induced Anaphylaxis |
25 |
1081 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
1082 |
|
DRM043 |
Dermochondrocorneal Dystrophy |
25 |
1083 |
c
|
TRS012 |
Trisomy 22 |
25 |
1084 |
|
CHR167 |
Chorioretinal Atrophy, Progressive Bifocal |
25 |
1085 |
c
|
WSK002 |
Wiskott-Aldrich Syndrome 2 |
25 |
1086 |
c
|
CLR092 |
Ciliary Dyskinesia, Primary, 18 |
25 |
1087 |
c
|
HML036 |
Hemolytic Uremic Syndrome, Atypical 6 |
25 |
1088 |
P
|
ATM094 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
25 |
1089 |
|
HRP008 |
Herpes Simiae |
25 |
1090 |
|
MYC001 |
Myoclonic Cerebellar Dyssynergia |
25 |
1091 |
|
DSS025 |
Dissociative Seizures |
25 |
1092 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
25 |
1093 |
|
ADG002 |
Audiogenic Seizures |
25 |
1094 |
|
MTC036 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
25 |
1095 |
|
RNG030 |
Ringed Hair |
25 |
1096 |
c
|
CTR165 |
Cataract 19, Multiple Types |
25 |
1097 |
|
TTR027 |
Tetrasomy 15q26 |
25 |
1098 |
|
HSB001 |
His Bundle Tachycardia |
25 |
1099 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
25 |
1100 |
c
|
ANM032 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
25 |
1101 |
|
NNT021 |
Neonatal Meningitis |
25 |
1102 |
P
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
25 |
1103 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
25 |
1104 |
P
|
PRK067 |
Porokeratosis 8, Disseminated Superficial Actinic Type |
25 |
1105 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
25 |
1106 |
|
CHR704 |
Chromosome 16p11.2 Deletion Syndrome |
25 |
1107 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
25 |
1108 |
c
|
CLR140 |
Ciliary Dyskinesia, Primary, 40 |
25 |
1109 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
25 |
1110 |
|
SCD003 |
Scedosporiosis |
25 |
1111 |
|
WLD006 |
Wild Type Abeta2m Amyloidosis |
25 |
1112 |
c
|
GNR046 |
Generalized Epilepsy with Febrile Seizures Plus, Type 10 |
25 |
1113 |
|
PLM061 |
Pulmonary Edema of Mountaineers |
25 |
1114 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
25 |
1115 |
c
|
CTR105 |
Cataract 12, Multiple Types |
25 |
1116 |
c
|
CLR098 |
Ciliary Dyskinesia, Primary, 27 |
25 |
1117 |
|
BRT037 |
Brittle Diabetes |
25 |
1118 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
25 |
1119 |
|
PLY110 |
Polymicrogyria, Bilateral Temporooccipital |
25 |
1120 |
c
|
CLR117 |
Ciliary Dyskinesia, Primary, 32 |
25 |
1121 |
c
|
CLR068 |
Ciliary Dyskinesia, Primary, 5 |
25 |
1122 |
|
FBR085 |
Fibrillary Glomerulonephritis |
24 |
1123 |
c
|
EPL107 |
Epilepsy, Familial Adult Myoclonic, 4 |
24 |
1124 |
|
48X002 |
48,xxxy Syndrome |
24 |
1125 |
c
|
TRS025 |
Torsion Dystonia 2 |
24 |
1126 |
|
PLM186 |
Pulmonary Arterial Hypertension Associated with Portal Hypertension |
24 |
1127 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
24 |
1128 |
|
UND004 |
Undetermined Colitis |
24 |
1129 |
c
|
RNG017 |
Ring Chromosome 21 |
24 |
1130 |
P
|
KRT014 |
Keratosis Follicularis Spinulosa Decalvans |
24 |
1131 |
|
SPR067 |
Sporadic Adult-Onset Ataxia of Unknown Etiology |
24 |
1132 |
|
FNC050 |
Functioning Gonadotropic Adenoma |
24 |
1133 |
c
|
WLL038 |
Weill-Marchesani Syndrome 3 |
24 |
1134 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
24 |
1135 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
24 |
1136 |
|
CNG418 |
Congenital Intrauterine Infection-Like Syndrome |
24 |
1137 |
|
GRH005 |
Graham-Little-Piccardi-Lassueur Syndrome |
24 |
1138 |
c
|
CLR099 |
Ciliary Dyskinesia, Primary, 16 |
24 |
1139 |
c
|
BRG009 |
Brugada Syndrome 7 |
24 |
1140 |
|
HMP028 |
Hemophagocytic Syndrome Associated with an Infection |
24 |
1141 |
c
|
RTN032 |
Retinal Cone Dystrophy 1 |
24 |
1142 |
|
ERY023 |
Erythroplakia |
24 |
1143 |
|
NN2002 |
Non 24 Hour Sleep Wake Disorder |
24 |
1144 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
24 |
1145 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
24 |
1146 |
|
CHR369 |
Chromosome Xq28 Duplication Syndrome |
24 |
1147 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
24 |
1148 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
24 |
1149 |
c
|
MLT094 |
Multiple Sclerosis 3 |
24 |
1150 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
24 |
1151 |
|
PRG116 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
24 |
1152 |
|
ISL135 |
Isolated Dystonia |
24 |
1153 |
c
|
CLR105 |
Ciliary Dyskinesia, Primary, 20 |
24 |
1154 |
|
CYN003 |
Cyanide Poisoning |
24 |
1155 |
c
|
MYM003 |
Moyamoya Disease 5 |
24 |
1156 |
|
MYP114 |
Myopathy, Scapulohumeroperoneal |
24 |
1157 |
c
|
ANT010 |
Anterior Compartment Syndrome |
24 |
1158 |
|
CHN075 |
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal |
24 |
1159 |
c
|
RTN061 |
Retinitis Pigmentosa 32 |
24 |
1160 |
c
|
HYP833 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
24 |
1161 |
c
|
RNG013 |
Ring Chromosome 18 |
24 |
1162 |
|
AXL004 |
Axial Mesodermal Dysplasia Spectrum |
24 |
1163 |
c
|
EPL228 |
Epilepsy, Familial Adult Myoclonic, 7 |
24 |
1164 |
|
CLC053 |
Colchicine Poisoning |
24 |
1165 |
c
|
ATM067 |
Autoimmune Polyendocrinopathy Type 3 |
24 |
1166 |
P
|
UNP013 |
Uniparental Disomy of Chromosome 1 |
24 |
1167 |
|
SCH055 |
Schilbach-Rott Syndrome |
24 |
1168 |
c
|
CLR139 |
Ciliary Dyskinesia, Primary, 39 |
24 |
1169 |
|
HYP181 |
Hypertrichosis Lanuginosa, Acquired |
24 |
1170 |
|
CMB065 |
Combined Oxidative Phosphorylation Deficiency 26 |
24 |
1171 |
c
|
RST020 |
Restless Legs Syndrome 6 |
24 |
1172 |
c
|
INS009 |
Insulin-Resistance Type B |
24 |
1173 |
|
ACT120 |
Acute Zonal Occult Outer Retinopathy |
24 |
1174 |
|
GRD004 |
Gardner-Diamond Syndrome |
24 |
1175 |
|
SNK001 |
Snakebite Envenomation |
24 |
1176 |
|
DRG016 |
Drug Induced Dyskinesia |
24 |
1177 |
P
|
PHC014 |
Phocomelia |
24 |
1178 |
|
MRN005 |
Marie Unna Congenital Hypotrichosis |
24 |
1179 |
|
LCH008 |
Lichen Planus Pigmentosus |
24 |
1180 |
c
|
ALP039 |
Alopecia Areata 1 |
24 |
1181 |
|
KR001 |
Koro |
24 |
1182 |
c
|
DYS068 |
Dystonia 7, Torsion |
24 |
1183 |
c
|
RTN051 |
Retinitis Pigmentosa 22 |
24 |
1184 |
|
ART037 |
Arthrogryposis and Ectodermal Dysplasia |
24 |
1185 |
|
NNT018 |
Neonatal Herpes |
24 |
1186 |
|
CMP041 |
Complement Factor D Deficiency |
24 |
1187 |
|
HYP144 |
Hyperacusis |
23 |
1188 |
|
ELC001 |
Elective Mutism |
23 |
1189 |
|
TRG006 |
Trigger Thumb |
23 |
1190 |
|
HYP213 |
Hypomelanotic Disorder |
23 |
1191 |
c
|
SPS039 |
Spastic Paraplegia 5a |
23 |
1192 |
c
|
ALP099 |
Alopecia, Congenital |
23 |
1193 |
c
|
ATS432 |
Autosomal Dominant Distal Myopathy |
23 |
1194 |
c
|
CTR110 |
Cataract 26, Multiple Types |
23 |
1195 |
c
|
CHR699 |
Charcot-Marie-Tooth Disease Type 2a2a |
23 |
1196 |
c
|
CLR054 |
Ciliary Dyskinesia, Primary, 12 |
23 |
1197 |
P
|
STR035 |
Streptococcal Group a Invasive Disease |
23 |
1198 |
c
|
SPS025 |
Spastic Paraplegia 15 |
23 |
1199 |
c
|
CLR138 |
Ciliary Dyskinesia, Primary, 38 |
23 |
1200 |
c
|
FCL056 |
Facial Paresis, Hereditary Congenital, 3 |
23 |
1201 |
|
HRL002 |
Harlequin Syndrome |
23 |
1202 |
|
CHR208 |
Chromosome 17p Deletion |
23 |
1203 |
c
|
SYN088 |
Synpolydactyly 2 |
23 |
1204 |
|
MCR220 |
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus |
23 |
1205 |
|
NPH027 |
Nipah Virus Encephalitis |
23 |
1206 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
23 |
1207 |
|
CLC064 |
Calcifying Aponeurotic Fibroma |
23 |
1208 |
c
|
MLT093 |
Multiple Sclerosis 2 |
23 |
1209 |
|
MYP121 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
23 |
1210 |
c
|
CNG100 |
Congenital Herpes Simplex |
23 |
1211 |
c
|
MTP014 |
Metaphyseal Anadysplasia 2 |
23 |
1212 |
c
|
ANM027 |
Anemia, Hypochromic Microcytic, with Iron Overload 2 |
23 |
1213 |
|
FMR017 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly |
23 |
1214 |
|
TRC037 |
Tracheobronchomalacia |
23 |
1215 |
|
PRP090 |
Peripheral Dysostosis |
23 |
1216 |
|
AML005 |
Amelogenesis Imperfecta Hypomaturation Type |
23 |
1217 |
c
|
CTR136 |
Cataract 41 |
23 |
1218 |
|
RTR012 |
Retroperitoneal Liposarcoma |
23 |
1219 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
23 |
1220 |
c
|
MCL071 |
Macular Dystrophy, Patterned, 2 |
23 |
1221 |
|
ACT239 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
23 |
1222 |
|
EPL011 |
Epilepsy, Benign Occipital |
23 |
1223 |
|
PNC012 |
Punctate Epithelial Keratoconjunctivitis |
23 |
1224 |
|
PTR034 |
Paternal Uniparental Disomy |
23 |
1225 |
c
|
DYS138 |
Dystonia 21 |
23 |
1226 |
c
|
CLR101 |
Ciliary Dyskinesia, Primary, 25 |
23 |
1227 |
c
|
CTR162 |
Cataract 47 |
23 |
1228 |
c
|
MCR272 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 |
23 |
1229 |
c
|
MYP116 |
Myopathy, Distal, 5 |
23 |
1230 |
c
|
CTR157 |
Cataract 28 |
23 |
1231 |
c
|
CLR107 |
Ciliary Dyskinesia, Primary, 24 |
23 |
1232 |
c
|
PRT136 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
23 |
1233 |
c
|
RNG021 |
Ring Chromosome 5 |
23 |
1234 |
|
DMD001 |
Demodicidosis |
23 |
1235 |
|
CNG092 |
Congenital Extrahepatic Portosystemic Shunt |
23 |
1236 |
|
PST040 |
Posterior Column Ataxia |
23 |
1237 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
23 |
1238 |
|
DSM006 |
Desmoplastic Infantile Ganglioglioma |
23 |
1239 |
|
DBL004 |
Double Discordia |
23 |
1240 |
c
|
SPS036 |
Spastic Paraplegia 3 |
23 |
1241 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
23 |
1242 |
c
|
ANM033 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
23 |
1243 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
23 |
1244 |
|
CMP017 |
Camptocormism |
23 |
1245 |
|
GYN003 |
Gynandroblastoma |
23 |
1246 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
23 |
1247 |
|
DPS001 |
Dipsogenic Diabetes Insipidus |
23 |
1248 |
c
|
BRT049 |
Bartter Syndrome, Type 5, Antenatal, Transient |
23 |
1249 |
|
RDL022 |
Radial Hemimelia |
23 |
1250 |
|
HML054 |
Hemolytic Disease Due to Fetomaternal Alloimmunization |
22 |
1251 |
|
SDD004 |
Sudden Arrhythmia Death Syndrome |
22 |
1252 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
22 |
1253 |
c
|
SPS027 |
Spastic Paraplegia 17 |
22 |
1254 |
|
MYP104 |
Myopathy, Vacuolar, with Casq1 Aggregates |
22 |
1255 |
c
|
CLR142 |
Ciliary Dyskinesia, Primary, 42 |
22 |
1256 |
c
|
EPL235 |
Epileptic Encephalopathy, Early Infantile, 71 |
22 |
1257 |
|
TBS009 |
Teebi-Shaltout Syndrome |
22 |
1258 |
|
ISL116 |
Isolated Complex Iii Deficiency |
22 |
1259 |
P
|
PLM064 |
Pulmonary Sequestration |
22 |
1260 |
c
|
CLR144 |
Ciliary Dyskinesia, Primary, 44 |
22 |
1261 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
22 |
1262 |
P
|
TRC034 |
Torch Syndrome |
22 |
1263 |
|
DPR014 |
Diprosopus |
22 |
1264 |
c
|
MYC085 |
Myoclonic Epilepsy, Juvenile 3 |
22 |
1265 |
|
INT093 |
Interferon Gamma, Receptor 1, Deficiency |
22 |
1266 |
c
|
SCN051 |
Secondary Pulmonary Alveolar Proteinosis |
22 |
1267 |
|
PSD043 |
Pseudopelade of Brocq |
22 |
1268 |
|
TTR016 |
Tetra-Amelia Syndrome |
22 |
1269 |
c
|
CLR126 |
Ciliary Dyskinesia, Primary, 35 |
22 |
1270 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
1271 |
|
CHR247 |
Chromosome 4p Deletion |
22 |
1272 |
|
HVY002 |
Heavy Metal Poisoning |
22 |
1273 |
|
GLC001 |
Glaucomatocyclitic Crisis |
22 |
1274 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
22 |
1275 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
1276 |
|
VBR003 |
Vibrio Vulnificus Infection |
22 |
1277 |
|
ADS015 |
Aids Wasting Syndrome |
22 |
1278 |
|
ART109 |
Arterial Thoracic Outlet Syndrome |
22 |
1279 |
|
NCL007 |
Nuclear Gene-Encoded Leigh Syndrome |
22 |
1280 |
|
MNC020 |
Monoclonal Mast Cell Activation Syndrome |
22 |
1281 |
c
|
ICH014 |
Ichthyosis Lamellar 1 |
22 |
1282 |
|
PLR025 |
Pleuroparenchymal Fibroelastosis |
22 |
1283 |
|
SDN002 |
Sudanophilic Cerebral Sclerosis |
22 |
1284 |
|
ATR017 |
Atrial Septal Defect Coronary Sinus |
22 |
1285 |
P
|
PTT054 |
Patterned Macular Dystrophy |
22 |
1286 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
22 |
1287 |
c
|
B4G002 |
B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
22 |
1288 |
c
|
CTR169 |
Cataract 29 |
22 |
1289 |
P
|
RDC012 |
Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset |
22 |
1290 |
|
JMP002 |
Jumping Frenchmen of Maine |
22 |
1291 |
|
PRL021 |
Perilymphatic Fistula |
22 |
1292 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1293 |
c
|
HYP845 |
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive |
22 |
1294 |
|
PST047 |
Post-Traumatic Epilepsy |
22 |
1295 |
c
|
CLR088 |
Ciliary Dyskinesia, Primary, 21 |
22 |
1296 |
|
PRP101 |
Peripheral Pulmonary Stenosis |
22 |
1297 |
|
ACR107 |
Acrofacial Dysostosis, Palagonia Type |
22 |
1298 |
|
LKN005 |
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema |
22 |
1299 |
|
RFS003 |
Refsum Disease, Infantile Form |
22 |
1300 |
|
LRY028 |
Laryngocele |
22 |
1301 |
|
GLY054 |
Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency |
22 |
1302 |
|
PSD050 |
Pseudoxanthoma Elasticum, Forme Fruste |
22 |
1303 |
c
|
EPL227 |
Epilepsy, Familial Adult Myoclonic, 6 |
22 |
1304 |
c
|
RNG019 |
Ring Chromosome 3 |
22 |
1305 |
|
HTR005 |
Heterochromia Iridis |
22 |
1306 |
|
HML018 |
Homologous Wasting Disease |
22 |
1307 |
P
|
RTN220 |
Retinal Ciliopathy |
22 |
1308 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
22 |
1309 |
c
|
DYS039 |
Dyskeratosis Congenita Autosomal Dominant |
21 |
1310 |
c
|
NNP012 |
Nanophthalmos 4 |
21 |
1311 |
|
6QT002 |
6q Terminal Deletion Syndrome |
21 |
1312 |
|
PRG110 |
Progressive Encephalomyelitis with Rigidity and Myoclonus |
21 |
1313 |
|
FND006 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
21 |
1314 |
|
SPN361 |
Spondylometaphyseal Dysplasia, Algerian Type |
21 |
1315 |
c
|
HRN024 |
Horner Syndrome, Congenital |
21 |
1316 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
21 |
1317 |
c
|
KRT073 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
21 |
1318 |
|
SPN356 |
Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia |
21 |
1319 |
c
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
21 |
1320 |
|
GRW021 |
Growing Teratoma Syndrome |
21 |
1321 |
|
PRD026 |
Pre-Descemet Corneal Dystrophy |
21 |
1322 |
|
SPS006 |
Spastic Monoplegia |
21 |
1323 |
c
|
SCN048 |
Secondary Syringomyelia |
21 |
1324 |
|
KRT020 |
Keratoconus Posticus Circumscriptus |
21 |
1325 |
|
NWD001 |
New Daily-Persistent Headache |
21 |
1326 |
|
ERY043 |
Euryblepharon |
21 |
1327 |
|
NWN001 |
New-Onset Refractory Status Epilepticus |
21 |
1328 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
21 |
1329 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
21 |
1330 |
|
GTP002 |
Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
21 |
1331 |
c
|
ATS209 |
Autosomal Dominant Secondary Polycythemia |
21 |
1332 |
|
ATK002 |
Atkin-Flaitz Syndrome |
21 |
1333 |
|
DRG014 |
Drug-Induced Autoimmune Hemolytic Anemia |
21 |
1334 |
c
|
MCL073 |
Macular Dystrophy, Vitelliform, 1 |
21 |
1335 |
c
|
CHR059 |
Chronic Endophthalmitis |
21 |
1336 |
|
SPS087 |
Spasmus Nutans |
21 |
1337 |
|
ISL084 |
Isolated Trigonocephaly |
21 |
1338 |
|
CGH002 |
Cough Headache |
21 |
1339 |
c
|
CLR143 |
Ciliary Dyskinesia, Primary, 43 |
21 |
1340 |
|
UNC015 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly |
21 |
1341 |
|
HYP642 |
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency |
21 |
1342 |
|
NNF008 |
Non-Functioning Paraganglioma |
21 |
1343 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
21 |
1344 |
c
|
ANR027 |
Aneurysm, Intracranial Berry, 1 |
21 |
1345 |
c
|
GNS004 |
Geniospasm 1 |
21 |
1346 |
|
PLV015 |
Pelvis-Shoulder Dysplasia |
21 |
1347 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
21 |
1348 |
|
BNT001 |
Banti's Syndrome |
21 |
1349 |
c
|
PRG142 |
Progressive Myoclonus Epilepsy 3 |
21 |
1350 |
c
|
ART159 |
Aortic Valve Disease 3 |
21 |
1351 |
c
|
CTR106 |
Cataract 20, Multiple Types |
21 |
1352 |
|
13Q001 |
13q12.3 Microdeletion Syndrome |
21 |
1353 |
|
CRB062 |
Cerebellar Hypoplasia with Endosteal Sclerosis |
21 |
1354 |
c
|
SNG012 |
Singleton-Merten Syndrome 2 |
21 |
1355 |
c
|
MLT124 |
Multiple Sclerosis 5 |
21 |
1356 |
P
|
QLT041 |
Qualitative or Quantitative Defects of Alpha-Dystroglycan |
21 |
1357 |
c
|
SPS233 |
Spastic Ataxia 9, Autosomal Recessive |
21 |
1358 |
|
CHR567 |
Chromosome 5q12 Deletion Syndrome |
21 |
1359 |
|
ANL024 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
21 |
1360 |
c
|
CLR124 |
Ciliary Dyskinesia, Primary, 34 |
21 |
1361 |
c
|
CHR465 |
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity |
21 |
1362 |
c
|
EPL217 |
Epilepsy, Juvenile Myoclonic 10 |
21 |
1363 |
c
|
PRS058 |
Prosopagnosia, Hereditary |
21 |
1364 |
|
SYN120 |
Syndromic Oculocutaneous Albinism |
21 |
1365 |
c
|
CRB168 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 |
21 |
1366 |
|
BLL015 |
Bullous Lichen Planus |
21 |
1367 |
c
|
NYS003 |
Nystagmus 2, Congenital, Autosomal Dominant |
21 |
1368 |
|
MRF007 |
Marfanoid Hypermobility Syndrome |
21 |
1369 |
|
VRV001 |
Ververi-Brady Syndrome |
21 |
1370 |
|
PLY039 |
Polymorphic Reticulosis |
21 |
1371 |
|
TLN007 |
Telangiectasia, Hereditary Benign |
21 |
1372 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
21 |
1373 |
|
MYC016 |
Mycobacterium Gordonae |
21 |
1374 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
1375 |
|
MYP060 |
Myopic Macular Degeneration |
21 |
1376 |
c
|
FBR079 |
Fibromatosis, Gingival, 2 |
21 |
1377 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
21 |
1378 |
|
CRN156 |
Craniofacioskeletal Syndrome |
21 |
1379 |
c
|
MCL061 |
Macular Dystrophy, Vitelliform, 4 |
21 |
1380 |
|
PTY005 |
Pityriasis Lichenoides Chronica |
21 |
1381 |
|
ACH039 |
Achalasia-Microcephaly Syndrome |
21 |
1382 |
|
NDD001 |
Nodding Syndrome |
21 |
1383 |
|
AP4001 |
Ap-4-Associated Hereditary Spastic Paraplegia |
20 |
1384 |
|
CMB039 |
Combined Pulmonary Fibrosis-Emphysema Syndrome |
20 |
1385 |
c
|
ADL084 |
Adult-Onset Myasthenia Gravis |
20 |
1386 |
|
CRY024 |
Crystal Arthropathies |
20 |
1387 |
P
|
SPN237 |
Spina Bifida Aperta |
20 |
1388 |
|
MYC021 |
Mycobacterium Xenopi |
20 |
1389 |
|
CGT001 |
Ciguatera Fish Poisoning |
20 |
1390 |
|
MRZ001 |
Mirizzi Syndrome |
20 |
1391 |
|
QLT002 |
Qualitative or Quantitative Defects of Dystrophin |
20 |
1392 |
|
CRT060 |
Cor Triatriatum Sinister |
20 |
1393 |
P
|
CTS012 |
Cutis Verticis Gyrata |
20 |
1394 |
|
CMP039 |
Camptodactyly 1 |
20 |
1395 |
|
LPS019 |
Lupus Erythematosus Tumidus |
20 |
1396 |
|
RCK009 |
Rickettsial Disease |
20 |
1397 |
c
|
MCL056 |
Macular Dystrophy, Vitelliform, 5 |
20 |
1398 |
c
|
DBT098 |
Diabetes Mellitus, Transient Neonatal, 2 |
20 |
1399 |
|
MTR027 |
Mitral Atresia |
20 |
1400 |
|
PRM157 |
Primary Progressive Freezing Gait |
20 |
1401 |
c
|
CHR549 |
Charcot-Marie-Tooth Disease Type 2l |
20 |
1402 |
c
|
CHR692 |
Chronic Encephalitis |
20 |
1403 |
|
ART056 |
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay |
20 |
1404 |
c
|
BRN073 |
Branchiootic Syndrome 2 |
20 |
1405 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
20 |
1406 |
c
|
HYP573 |
Hypotrichosis 5 |
20 |
1407 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
20 |
1408 |
|
UNL013 |
Unilateral Absence of a Pulmonary Artery |
20 |
1409 |
c
|
CTR159 |
Cataract 35 |
20 |
1410 |
|
CHR416 |
Chromosome 17q Deletion |
20 |
1411 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
20 |
1412 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
20 |
1413 |
|
GLC025 |
Galactorrhoea-Hyperprolactinaemia |
20 |
1414 |
|
TRN067 |
Transcobalamin I Deficiency |
20 |
1415 |
c
|
BRC105 |
Brachydactyly, Type A1, D |
20 |
1416 |
c
|
ATM093 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
20 |
1417 |
|
INT232 |
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
20 |
1418 |
|
FCC003 |
Faciocardiomelic Dysplasia, Lethal |
20 |
1419 |
c
|
CTR144 |
Cataract 43 |
20 |
1420 |
|
CRB164 |
Cerebrooculonasal Syndrome |
20 |
1421 |
|
TMP006 |
Temporomandibular Ankylosis |
20 |
1422 |
|
NND001 |
Nondystrophic Myotonia |
20 |
1423 |
|
ATY025 |
Atypical Glycine Encephalopathy |
20 |
1424 |
|
RTH002 |
Rutherfurd Syndrome |
20 |
1425 |
|
ACT191 |
Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion |
20 |
1426 |
|
ACT174 |
Acute Peripheral Arterial Occlusion |
20 |
1427 |
c
|
NNT025 |
Neonatal Systemic Lupus Erythematosus |
20 |
1428 |
P
|
CNG515 |
Congenital Zika Syndrome |
20 |
1429 |
c
|
CMP071 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
20 |
1430 |
|
MLN084 |
Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation |
20 |
1431 |
c
|
RNG025 |
Ring Chromosome 9 |
20 |
1432 |
|
CLF021 |
Cleft Palate X-Linked |
20 |
1433 |
c
|
MYC086 |
Myoclonic Epilepsy, Juvenile 4 |
20 |
1434 |
P
|
STR111 |
Stromal Corneal Dystrophy |
20 |
1435 |
|
LVC002 |
Levocardia |
20 |
1436 |
c
|
CLR145 |
Ciliary Dyskinesia, Primary, 45 |
20 |
1437 |
|
DSS012 |
Disseminated Infection with Mycobacterium Avium Complex |
20 |
1438 |
|
PYT001 |
Pythiosis |
20 |
1439 |
|
FWL003 |
Fowler Urethral Sphincter Dysfunction Syndrome |
20 |
1440 |
c
|
PRK022 |
Parkinson Disease 12 |
20 |
1441 |
c
|
HYP578 |
Hypotrichosis 12 |
20 |
1442 |
c
|
SPS214 |
Spastic Ataxia 4 |
20 |
1443 |
|
DST059 |
Distal Trisomy 17q |
20 |
1444 |
|
CRB155 |
Carbonic Anhydrase Va Deficiency |
20 |
1445 |
c
|
CLR141 |
Ciliary Dyskinesia, Primary, 41 |
20 |
1446 |
c
|
EPS033 |
Episodic Ataxia, Type 8 |
20 |
1447 |
|
HYD031 |
Hydroxyprolinemia |
20 |
1448 |
|
HRD090 |
Harderoporphyria |
20 |
1449 |
|
HPS001 |
Hip Subluxation |
20 |
1450 |
c
|
CTR139 |
Cataract 42 |
20 |
1451 |
|
RTN037 |
Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma |
19 |
1452 |
|
MLG087 |
Malignant Cylindroma |
19 |
1453 |
|
FCD002 |
Faciodigitogenital Syndrome, Autosomal Recessive |
19 |
1454 |
c
|
HYP832 |
Hypotrichosis 14 |
19 |
1455 |
|
MCR330 |
Microphthalmia, Isolated, with Cataract 1 |
19 |
1456 |
c
|
RNG012 |
Ring Chromosome 17 |
19 |
1457 |
|
HML010 |
Hemolytic Anemia Due to Glutathione Reductase Deficiency |
19 |
1458 |
|
MSC017 |
Mosaic Trisomy 22 |
19 |
1459 |
P
|
CHR200 |
Chromosome 16 Trisomy |
19 |
1460 |
|
EXT063 |
Extrapelvic Endometriosis |
19 |
1461 |
|
THN005 |
Thunderclap Headache |
19 |
1462 |
|
BRC046 |
Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia |
19 |
1463 |
c
|
INF152 |
Infectious Posterior Uveitis |
19 |
1464 |
c
|
SPS041 |
Spastic Paraplegia 6 |
19 |
1465 |
c
|
ATS454 |
Autosomal Trisomy |
19 |
1466 |
|
VGN031 |
Vaginal Atresia |
19 |
1467 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
19 |
1468 |
|
FRN028 |
Furunculous Myiasis |
19 |
1469 |
|
BSL043 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
19 |
1470 |
c
|
SPS171 |
Spastic Ataxia 5 |
19 |
1471 |
|
DYS134 |
Dysspondyloenchondromatosis |
19 |
1472 |
c
|
JVN046 |
Juvenile Polymyositis |
19 |
1473 |
|
DHY008 |
Dihydroxyadeninuria |
19 |
1474 |
c
|
SPR070 |
Sporadic Infantile Bilateral Striatal Necrosis |
19 |
1475 |
|
LVT001 |
Levator Syndrome |
19 |
1476 |
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
19 |
1477 |
|
ISL085 |
Isolated Agammaglobulinemia |
19 |
1478 |
|
LNR010 |
Linear Lichen Planus |
19 |
1479 |
c
|
CHR686 |
Chronic Cutaneous Lupus Erythematosus |
19 |
1480 |
c
|
SPS229 |
Spastic Ataxia 8 |
19 |
1481 |
c
|
FCL030 |
Facial Paresis, Hereditary Congenital, 1 |
19 |
1482 |
|
RTN185 |
Retinal Dysplasia, Primary |
19 |
1483 |
c
|
TLN009 |
Telangiectasia, Hereditary Hemorrhagic, Type 3 |
19 |
1484 |
c
|
SLV029 |
Silver-Russell Syndrome 2 |
19 |
1485 |
|
HYD050 |
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts |
19 |
1486 |
|
LCT008 |
Lactate Dehydrogenase Deficiency |
19 |
1487 |
c
|
DYS184 |
Dystonia 17, Torsion, Autosomal Recessive |
19 |
1488 |
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
19 |
1489 |
|
PHC015 |
Phacoanaphylactic Uveitis |
19 |
1490 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
19 |
1491 |
c
|
ANM039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
19 |
1492 |
|
MCR311 |
Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome |
19 |
1493 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
19 |
1494 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
19 |
1495 |
c
|
PRG146 |
Progressive Myoclonus Epilepsy 9 |
19 |
1496 |
c
|
CTR160 |
Cataract 45 |
19 |
1497 |
c
|
FBR092 |
Fibromatosis, Gingival, 5 |
19 |
1498 |
|
CTS042 |
Cutis Laxa, Neonatal, with Marfanoid Phenotype |
19 |
1499 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
19 |
1500 |
c
|
PRG145 |
Progressive Myoclonus Epilepsy 6 |
19 |
1501 |
|
EXT061 |
Extracardiac Rhabdomyoma |
19 |
1502 |
c
|
CHR227 |
Chromosome 20 Trisomy |
19 |
1503 |
|
16P004 |
16p13.11 Microduplication Syndrome |
19 |
1504 |
|
PSD079 |
Pseudoangiomatous Stromal Hyperplasia |
19 |
1505 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
19 |
1506 |
c
|
MLT095 |
Multiple Sclerosis 4 |
19 |
1507 |
|
EGL001 |
Eagle Syndrome |
19 |
1508 |
c
|
RNG006 |
Ring Chromosome 11 |
19 |
1509 |
|
SPL056 |
Split-Foot Deformity with Mandibulofacial Dysostosis |
19 |
1510 |
|
SMC003 |
Semicircular Canal Dehiscence Syndrome |
19 |
1511 |
|
BDR001 |
Bidirectional Tachycardia |
19 |
1512 |
P
|
PRM210 |
Primary Lipodystrophy |
19 |
1513 |
|
EPG004 |
Epignathus |
19 |
1514 |
|
IQS001 |
Iqsec2 |
19 |
1515 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1516 |
|
HST018 |
Histiocytosis, Progressive Mucinous |
19 |
1517 |
|
VRR008 |
Verrucous Hemangioma |
19 |
1518 |
|
HVY003 |
Heavy Chain Deposition Disease |
19 |
1519 |
|
MDS024 |
Mediastinal Endodermal Sinus Tumors |
19 |
1520 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
1521 |
|
LWF001 |
Low-Flow Priapism |
19 |
1522 |
c
|
SPS191 |
Spastic Ataxia 7, Autosomal Dominant |
19 |
1523 |
|
PCH004 |
Pachygyria, Frontotemporal |
19 |
1524 |
|
CHL084 |
Cholesterol Pneumonia |
19 |
1525 |
P
|
HYP252 |
Hypochromic Microcytic Anemia with Iron Overload |
18 |
1526 |
|
HMF007 |
Hemifacial Hyperplasia with Strabismus |
18 |
1527 |
c
|
SPS170 |
Spastic Ataxia 2 |
18 |
1528 |
|
BRH001 |
Boerhaave Syndrome |
18 |
1529 |
|
RDL032 |
Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia |
18 |
1530 |
c
|
PRM209 |
Primary Trimethylaminuria |
18 |
1531 |
|
ALN003 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
18 |
1532 |
P
|
RFR014 |
Refractory Anemia with Excess Blasts Type 2 |
18 |
1533 |
|
EDN001 |
Edinburgh Malformation Syndrome |
18 |
1534 |
|
CYT006 |
Cytoplasmic Body Myopathy |
18 |
1535 |
c
|
PRM188 |
Primary Cutis Verticis Gyrata |
18 |
1536 |
|
CHR219 |
Chromosome 19q13.11 Deletion Syndrome |
18 |
1537 |
|
QLT009 |
Qualitative or Quantitative Defects of Caveolin-3 |
18 |
1538 |
|
GLT036 |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to |
18 |
1539 |
|
KRT065 |
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy |
18 |
1540 |
c
|
UNP012 |
Uniparental Disomy of Chromosome 7 |
18 |
1541 |
|
ELS004 |
Elastofibroma Dorsi |
18 |
1542 |
|
APL028 |
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction |
18 |
1543 |
|
MCR279 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
18 |
1544 |
|
17Q009 |
17q12 Recurrent Deletion Syndrome |
18 |
1545 |
|
RTC011 |
Reticular Dystrophy of Retinal Pigment Epithelium |
18 |
1546 |
c
|
CNG121 |
Congenital Pulmonary Alveolar Proteinosis |
18 |
1547 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
1548 |
c
|
MYP158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
18 |
1549 |
P
|
MTC195 |
Mitochondrial Oxidative Phosphorylation Disorder |
18 |
1550 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
18 |
1551 |
|
MLT131 |
Multifocal Atrial Tachycardia |
18 |
1552 |
|
AMY010 |
Amyloidosis Beta2m |
18 |
1553 |
|
CNT088 |
Central Cloudy Dystrophy of Francois |
18 |
1554 |
|
GLC039 |
Glucosephosphate Isomerase Deficiency |
18 |
1555 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
18 |
1556 |
|
TRT005 |
Teratoma with Malignant Transformation |
18 |
1557 |
|
LGR001 |
Laugier-Hunziker Syndrome |
18 |
1558 |
|
LPD041 |
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones |
18 |
1559 |
|
TRC052 |
Trichofolliculoma |
18 |
1560 |
|
17Q012 |
17q24.2 Microdeletion Syndrome |
18 |
1561 |
|
HHV001 |
Hhv-6 Encephalitis |
18 |
1562 |
|
UNL015 |
Unilateral Aplasia of the Mullerian Ducts |
18 |
1563 |
|
CCC003 |
Coccygodynia |
18 |
1564 |
|
GLY074 |
Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset |
18 |
1565 |
|
LMB056 |
Lumbosacral Spina Bifida Cystica |
18 |
1566 |
|
IGG013 |
Igg4-Related Pachymeningitis |
18 |
1567 |
|
PPL038 |
Papular Xanthoma |
18 |
1568 |
|
LMB057 |
Lumbosacral Spina Bifida Aperta |
18 |
1569 |
|
CTM001 |
Catamenial Pneumothorax |
18 |
1570 |
|
SWY003 |
Swyer-James Syndrome |
18 |
1571 |
|
DYT005 |
Dyt-Thap1 |
18 |
1572 |
|
IDP047 |
Idiopathic Panuveitis |
18 |
1573 |
|
ICH025 |
Ichthyosis, Follicular |
18 |
1574 |
c
|
TRN062 |
Transient Neonatal Myasthenia Gravis |
18 |
1575 |
c
|
CTR178 |
Cataract 27 |
18 |
1576 |
|
SYM006 |
Symmetrical Thalamic Calcifications |
18 |
1577 |
P
|
WHS002 |
Whistling Face Syndrome, Recessive Form |
18 |
1578 |
|
MTH011 |
Methionine Adenosyltransferase Deficiency |
18 |
1579 |
|
MYX011 |
Myxozoa |
17 |
1580 |
P
|
HRD043 |
Hereditary Congenital Facial Paresis |
17 |
1581 |
|
GLM036 |
Gliomatosis Peritonei |
17 |
1582 |
P
|
PYR006 |
Pyridoxine-Responsive Sideroblastic Anemia |
17 |
1583 |
|
PPL053 |
Papillomatosis, Florid, of Nipple |
17 |
1584 |
|
TYP044 |
Type 1 Interferonopathy |
17 |
1585 |
|
MYS028 |
Myospherulosis |
17 |
1586 |
|
VNT036 |
Ventilator-Induced Diaphragmatic Dysfunction |
17 |
1587 |
c
|
CHR700 |
Charcot-Marie-Tooth Disease Type 2a2b |
17 |
1588 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
17 |
1589 |
c
|
SPS028 |
Spastic Paraplegia 18 |
17 |
1590 |
|
ANL019 |
Anal Sphincter Dysplasia |
17 |
1591 |
|
CNG491 |
Congenital Portosystemic Shunt |
17 |
1592 |
c
|
ACQ039 |
Acquired Purpura Fulminans |
17 |
1593 |
|
SPR065 |
Supernumerary Nostril |
17 |
1594 |
|
BRC096 |
Brachydactyly-Distal Symphalangism Syndrome |
17 |
1595 |
|
CTN020 |
Cutaneous Sclerosis |
17 |
1596 |
|
MDL024 |
Madelung Deformity |
17 |
1597 |
c
|
INF047 |
Infantile Free Sialic Acid Storage Disease |
17 |
1598 |
|
RMT001 |
Remitting Seronegative Symmetrical Synovitis with Pitting Edema |
17 |
1599 |
|
LTN011 |
Late-Onset Isolated Acth Deficiency |
17 |
1600 |
c
|
JVN045 |
Juvenile Ossifying Fibroma |
17 |
1601 |
c
|
PSD121 |
Pseudo-Torch Syndrome 3 |
17 |
1602 |
|
CTN034 |
Cutaneous Myiasis |
17 |
1603 |
|
TRG017 |
Trigeminal Trophic Syndrome |
17 |
1604 |
|
SPR072 |
Superficial Pemphigus |
17 |
1605 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
17 |
1606 |
c
|
ALP040 |
Alopecia Areata 2 |
17 |
1607 |
P
|
ATS469 |
Autosomal Monosomy |
17 |
1608 |
c
|
SLV031 |
Silver-Russell Syndrome 5 |
17 |
1609 |
|
ZBR001 |
Zebra Body Myopathy |
17 |
1610 |
|
TRP010 |
Treponema Infection |
17 |
1611 |
|
PLY134 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
17 |
1612 |
c
|
TTL008 |
Total Spina Bifida Cystica |
17 |
1613 |
|
UPP008 |
Upper Thoracic Spina Bifida Aperta |
17 |
1614 |
|
THR085 |
Thoracolumbosacral Spina Bifida Aperta |
17 |
1615 |
|
DBL010 |
Double-Orifice Mitral Valve |
17 |
1616 |
|
CRN192 |
Craniorhiny |
17 |
1617 |
|
ACR078 |
Acral Self-Healing Collodion Baby |
17 |
1618 |
c
|
INH022 |
Inherited Ichthyosis |
17 |
1619 |
|
STN005 |
St Anthony's Fire |
17 |
1620 |
|
3Q2006 |
3q27.3 Microdeletion Syndrome |
17 |
1621 |
|
MSC079 |
Mosaic Trisomy 1 |
17 |
1622 |
|
BRC116 |
Brachial Amelia, Cleft Lip, and Holoprosencephaly |
17 |
1623 |
c
|
INF055 |
Infectious Myocarditis |
17 |
1624 |
|
BKS002 |
Book Syndrome |
17 |
1625 |
|
SPS196 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
17 |
1626 |
|
HMR013 |
Hemorrhagic Proctocolitis |
17 |
1627 |
|
SPN133 |
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations |
17 |
1628 |
|
MD1003 |
Med13l Haploinsufficiency Syndrome |
17 |
1629 |
|
BRC100 |
Brachydactyly, Combined B and E Types |
17 |
1630 |
|
CLS032 |
Clostridium Perfringens Infection |
17 |
1631 |
|
ORN004 |
Ornithinemia |
17 |
1632 |
c
|
CLS053 |
Cluster Headache, Familial |
17 |
1633 |
P
|
NDL017 |
Nodular Cutaneous Amyloidosis |
17 |
1634 |
c
|
PRK058 |
Parkinson Disease 16 |
17 |
1635 |
c
|
PRG141 |
Progressive Myoclonus Epilepsy 10 |
17 |
1636 |
|
PNT023 |
Pontine Hemorrhage |
17 |
1637 |
|
DSL002 |
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism |
17 |
1638 |
|
BSL041 |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant |
17 |
1639 |
|
ZNC005 |
Zinc-Responsive Necrolytic Acral Erythema |
17 |
1640 |
c
|
CNG619 |
Congenital Aplastic Anemia |
17 |
1641 |
|
ANT063 |
Anti-P200 Pemphigoid |
17 |
1642 |
|
FCL087 |
Facial Infiltrating Lipomatosis |
17 |
1643 |
c
|
PST077 |
Posterior Meningocele |
17 |
1644 |
|
XP2001 |
Xp22.3 Microdeletion Syndrome |
17 |
1645 |
|
PLM108 |
Pulmonary Interstitial Glycogenosis |
17 |
1646 |
|
CRN287 |
Carnitine Deficiency, Myopathic |
17 |
1647 |
c
|
LTN017 |
Late-Infantile/juvenile Krabbe Disease |
17 |
1648 |
|
RSM002 |
Rasmussen Johnsen Thomsen Syndrome |
17 |
1649 |
|
PRP069 |
Purpura Simplex |
17 |
1650 |
|
CHR184 |
Chromosome 10q Duplication |
17 |
1651 |
|
CNG609 |
Congenital Left Ventricular Aneurysm |
17 |
1652 |
|
JVN060 |
Juvenile Idiopathic Inflammatory Myopathy |
17 |
1653 |
|
RDT004 |
Radiation Induced Brachial Plexopathy |
17 |
1654 |
|
APD001 |
Apo a-I Deficiency |
17 |
1655 |
|
HYP696 |
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome |
17 |
1656 |
|
GND015 |
Gonadal Germ Cell Tumor |
17 |
1657 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
17 |
1658 |
c
|
PRG148 |
Progressive Myoclonus Epilepsy 1a |
17 |
1659 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
17 |
1660 |
|
DRL001 |
Dural Sinus Malformation |
16 |
1661 |
P
|
CNG600 |
Congenital Arteriovenous Fistula |
16 |
1662 |
|
HYP479 |
Hyperinsulinism Due to Hnf4a Deficiency |
16 |
1663 |
c
|
RNG014 |
Ring Chromosome 19 |
16 |
1664 |
c
|
NYS016 |
Nystagmus 7, Congenital, Autosomal Dominant |
16 |
1665 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
16 |
1666 |
|
EMR002 |
Emerinopathy |
16 |
1667 |
|
CHR257 |
Chromosome 6q Deletion |
16 |
1668 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
16 |
1669 |
c
|
RSP027 |
Respiratory Papillomatosis, Juvenile Recurrent, Congenital |
16 |
1670 |
|
ALN006 |
Alien Hand Syndrome |
16 |
1671 |
c
|
RNG011 |
Ring Chromosome 16 |
16 |
1672 |
|
RDC003 |
Red Cell Phospholipid Defect with Hemolysis |
16 |
1673 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
16 |
1674 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1675 |
|
TRS010 |
Trisomy 17 Mosaicism |
16 |
1676 |
|
MLT144 |
Multiple Epiphyseal Dysplasia with Robin Phenotype |
16 |
1677 |
|
CNG330 |
Congenital Megacalycosis |
16 |
1678 |
|
PCT002 |
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails |
16 |
1679 |
|
PRX013 |
Proximal Chromosome 18q Deletion Syndrome |
16 |
1680 |
c
|
UNP011 |
Uniparental Disomy of Chromosome 14 |
16 |
1681 |
|
APH014 |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv |
16 |
1682 |
|
ART091 |
Aorto-Ventricular Tunnel |
16 |
1683 |
|
NND006 |
Non-Distal Monosomy 20q |
16 |
1684 |
|
SLT007 |
Solitary Rectal Ulcer Syndrome |
16 |
1685 |
|
3P2001 |
3p25.3 Microdeletion Syndrome |
16 |
1686 |
|
TYS007 |
Tyshchenko Syndrome |
16 |
1687 |
|
CMM018 |
Common Mesentery |
16 |
1688 |
|
SYR004 |
Syringobulbia |
16 |
1689 |
c
|
CTR128 |
Cataract 33 |
16 |
1690 |
|
GMB001 |
Gombo Syndrome |
16 |
1691 |
|
SBP005 |
Subpulmonary Stenosis |
16 |
1692 |
c
|
MCH014 |
Machado-Joseph Disease Type 2 |
16 |
1693 |
c
|
PRG143 |
Progressive Myoclonus Epilepsy 7 |
16 |
1694 |
|
GLC088 |
Glaucoma and Sleep Apnea |
16 |
1695 |
|
LMB071 |
Lambotte Syndrome |
16 |
1696 |
|
CLF033 |
Cleft Mitral Valve |
16 |
1697 |
c
|
SPS163 |
Spastic Ataxia 3 |
16 |
1698 |
|
ANT040 |
Anton's Syndrome |
16 |
1699 |
|
THM025 |
Thumbs, Congenital Clasped |
16 |
1700 |
|
PRS110 |
Persistent Placoid Maculopathy |
16 |
1701 |
|
16P008 |
16p11.2 Duplication |
16 |
1702 |
|
8Q1001 |
8q12 Microduplication Syndrome |
16 |
1703 |
|
FRS011 |
First Branchial Cleft Anomaly |
16 |
1704 |
c
|
PTR011 |
Paternal Uniparental Disomy of Chromosome 1 |
16 |
1705 |
|
CRV046 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction |
16 |
1706 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
16 |
1707 |
c
|
CNG596 |
Congenital Ectropion |
16 |
1708 |
|
XLN085 |
X-Linked Complicated Spastic Paraplegia Type 1 |
16 |
1709 |
|
HYP689 |
Hypomelia with Mullerian Duct Anomalies |
16 |
1710 |
|
ECT023 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
16 |
1711 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
16 |
1712 |
c
|
EPL186 |
Epilepsy, Juvenile Myoclonic 9 |
16 |
1713 |
|
PFF010 |
Pfeiffer-Palm-Teller Syndrome |
16 |
1714 |
|
AMR007 |
Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis |
16 |
1715 |
|
TRP023 |
Triphalangeal Thumbs and Dislocation of Patella |
16 |
1716 |
|
KSH003 |
Kshv Inflammatory Cytokine Syndrome |
16 |
1717 |
c
|
EPL254 |
Epilepsy, Progressive Myoclonic, 11 |
16 |
1718 |
|
LTH004 |
Lathyrism |
16 |
1719 |
|
ANP032 |
Anaplastic Pleomorphic Xanthoastrocytoma |
16 |
1720 |
c
|
SPN403 |
Spinocerebellar Ataxia, X-Linked 2 |
16 |
1721 |
|
PLV018 |
Pelvic Hypoplasia with Lower-Limb Arthrogryposis |
16 |
1722 |
|
BRZ001 |
Brazilian Hemorrhagic Fever |
16 |
1723 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
16 |
1724 |
|
CRN308 |
Coronary Arterial Fistula |
16 |
1725 |
c
|
ZKV002 |
Zika Virus Congenital Syndrome |
16 |
1726 |
|
ACT170 |
Acute Ackee Fruit Intoxication |
16 |
1727 |
c
|
SPS023 |
Spastic Paraplegia 13 |
16 |
1728 |
|
BSC003 |
Buschke Lowenstein Tumor |
16 |
1729 |
|
RBN019 |
Robin Sequence with Distinctive Facial Appearance and Brachydactyly |
16 |
1730 |
|
PRP068 |
Propriospinal Myoclonus |
16 |
1731 |
|
HYP727 |
Hypoglossia with Situs Inversus |
16 |
1732 |
|
TRC120 |
Tricarboxylic Acid Cycle, Defect of |
16 |
1733 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
16 |
1734 |
|
DYS053 |
Dystelephalangy |
16 |
1735 |
|
DST035 |
Distal Trisomy 18q |
16 |
1736 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
16 |
1737 |
|
CHR220 |
Chromosome 1p Deletion |
15 |
1738 |
|
WYR003 |
Weyers Ulnar Ray/oligodactyly Syndrome |
15 |
1739 |
|
LJN002 |
Lujan Syndrome |
15 |
1740 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
15 |
1741 |
|
MSP003 |
Misophonia |
15 |
1742 |
|
GRN021 |
Granulomatous Rosacea |
15 |
1743 |
|
LKT001 |
Leukotriene C4 Synthase Deficiency |
15 |
1744 |
c
|
MCL026 |
Macular Dystrophy, Retinal, 3 |
15 |
1745 |
c
|
HYP551 |
Hypotrichosis 9 |
15 |
1746 |
c
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
15 |
1747 |
|
OVR073 |
Ovarian Remnant Syndrome |
15 |
1748 |
|
ISL134 |
Isolated Craniosynostosis |
15 |
1749 |
|
PPL027 |
Papular Urticaria |
15 |
1750 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
15 |
1751 |
|
CHR250 |
Chromosome 4q Duplication |
15 |
1752 |
c
|
GRV009 |
Graves Disease 2 |
15 |
1753 |
|
CTT001 |
Catatrichy |
15 |
1754 |
|
MCR340 |
Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate |
15 |
1755 |
|
XLN223 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
15 |
1756 |
c
|
FCL050 |
Facial Paresis, Hereditary Congenital, 2 |
15 |
1757 |
|
CHR263 |
Chromosome 7q Duplication |
15 |
1758 |
|
ATS285 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
15 |
1759 |
|
CHS007 |
Chester Porphyria |
15 |
1760 |
|
CRN269 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation |
15 |
1761 |
|
TRM021 |
Tremor, Nystagmus, and Duodenal Ulcer |
15 |
1762 |
|
CTN018 |
Cutaneous Photosensitivity and Colitis, Lethal |
15 |
1763 |
|
XLN133 |
X-Linked Intellectual Disability, Shashi Type |
15 |
1764 |
|
MSM003 |
Mesomelia |
15 |
1765 |
|
SPR145 |
Superficial Fibromatosis |
15 |
1766 |
c
|
ALP036 |
Alopecia, Androgenetic, 2 |
15 |
1767 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
15 |
1768 |
|
CRY029 |
Cryptomicrotia-Brachydactyly Syndrome |
15 |
1769 |
c
|
HYP544 |
Hypotrichosis 10 |
15 |
1770 |
|
DYS038 |
Dysgnathia Complex |
15 |
1771 |
|
PRP033 |
Properdin Deficiency |
15 |
1772 |
c
|
RFR015 |
Refractory Anemia with Excess Blasts Type 1 |
15 |
1773 |
|
LMB009 |
Lambdoid Synostosis |
15 |
1774 |
|
SHN001 |
Shone Complex |
15 |
1775 |
|
CHR199 |
Chromosome 15q Duplication |
15 |
1776 |
|
VCT002 |
Vacterl Association with Hydrocephaly, X-Linked |
15 |
1777 |
|
ADC008 |
Adactylia, Unilateral |
15 |
1778 |
c
|
FBR077 |
Fibromatosis, Gingival, 3 |
15 |
1779 |
c
|
FBR080 |
Fibromatosis, Gingival, 4 |
15 |
1780 |
|
PRT107 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
15 |
1781 |
|
CHR238 |
Chromosome 2p Duplication |
15 |
1782 |
|
CHR264 |
Chromosome 8p Deletion |
15 |
1783 |
|
GNT042 |
Genetic Recurrent Myoglobinuria |
15 |
1784 |
|
MCR242 |
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma |
15 |
1785 |
|
FBR024 |
Fibrocartilaginous Embolism |
15 |
1786 |
c
|
SPS042 |
Spastic Paraplegia 9 |
15 |
1787 |
|
CHR181 |
Chromosome 10p Deletion |
15 |
1788 |
|
SBM006 |
Submucosal Cleft Palate |
15 |
1789 |
|
CRT056 |
Carotidynia |
15 |
1790 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
15 |
1791 |
|
EXR004 |
Exertional Headache |
15 |
1792 |
c
|
FRM005 |
Frmd7-Related Infantile Nystagmus |
15 |
1793 |
c
|
RRM002 |
Rrm2b-Related Mitochondrial Disease |
15 |
1794 |
|
ARC024 |
Aurocephalosyndactyly |
15 |
1795 |
|
GRN020 |
Granulomatous Hypophysitis |
15 |
1796 |
|
ARB003 |
Arbovirosis |
15 |
1797 |
c
|
UNP008 |
Uniparental Disomy of Chromosome 15 |
15 |
1798 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
15 |
1799 |
|
ISL072 |
Isolated Levocardia |
15 |
1800 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
15 |
1801 |
|
ART027 |
Aorta-Pulmonary Artery Fistula |
15 |
1802 |
|
FNG010 |
Fingerprint Body Myopathy |
15 |
1803 |
|
MSC015 |
Mosaic Trisomy 13 |
15 |
1804 |
|
CNG248 |
Congenital Smooth Muscle Hamartoma |
15 |
1805 |
|
HYP468 |
Hyperkeratosis-Hyperpigmentation Syndrome |
15 |
1806 |
|
DST082 |
Distal Trisomy 10q |
15 |
1807 |
c
|
LGB002 |
Leg, Absence Deformity of, with Congenital Cataract |
15 |
1808 |
|
DSM005 |
Desmoplastic Infantile Astrocytoma |
15 |
1809 |
|
INT176 |
Intraocular Medulloepithelioma |
15 |
1810 |
|
CNG067 |
Congenital Cystic Eye |
15 |
1811 |
|
NSP010 |
Nasopharyngeal Teratoma |
15 |
1812 |
|
DBL009 |
Double Inferior Vena Cava |
15 |
1813 |
|
ITR003 |
Iatrogenic Creutzfeldt-Jakob Disease |
15 |
1814 |
|
TRP027 |
Triphalangeal Thumb, Nonopposable |
15 |
1815 |
|
PRS132 |
Parasomnia, Sleep Bruxism Type |
15 |
1816 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
1817 |
|
IDP043 |
Idiopathic Uveal Effusion Syndrome |
15 |
1818 |
|
CLL035 |
Collagen Type Iii Glomerulopathy |
15 |
1819 |
|
MRG007 |
Morgellons |
15 |
1820 |
|
MYL019 |
Myeloid Splenomegaly |
15 |
1821 |
|
CRD014 |
Cardiac Diverticulum |
15 |
1822 |
|
TRM018 |
Traumatic Avascular Necrosis |
15 |
1823 |
|
SPN346 |
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability |
15 |
1824 |
|
CHR272 |
Chromosome 9q Duplication |
15 |
1825 |
|
HNR001 |
Heiner Syndrome |
15 |
1826 |
|
WHB001 |
Wahab Syndrome |
15 |
1827 |
|
FBR022 |
Febrile Ulceronecrotic Mucha-Habermann Disease |
15 |
1828 |
|
ACH040 |
Achoo Syndrome |
15 |
1829 |
|
GLM046 |
Glomus Vagale Tumor |
15 |
1830 |
|
CHR261 |
Chromosome 7p Duplication |
15 |
1831 |
P
|
PLM179 |
Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia |
15 |
1832 |
c
|
CV3001 |
Cav3-Related Distal Myopathy |
15 |
1833 |
|
HYP497 |
Hyperphalangy |
15 |
1834 |
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
1835 |
|
PST037 |
Pasteurella Multocida Infection |
14 |
1836 |
|
TRC064 |
Trochlear Dysplasia |
14 |
1837 |
|
PLM062 |
Pulmonary Hyalinizing Granuloma |
14 |
1838 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
14 |
1839 |
|
RCT024 |
Reactive Angioendotheliomatosis |
14 |
1840 |
c
|
PRK095 |
Porokeratosis 4, Disseminated Superficial Actinic Type |
14 |
1841 |
c
|
MYC055 |
Mycobacterium Tuberculosis 3 |
14 |
1842 |
|
PRG036 |
Progressive Transformation of Germinal Centers |
14 |
1843 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
14 |
1844 |
|
DLT013 |
Deletion 5q35 |
14 |
1845 |
|
NNT054 |
Neonatal Alloimmune Neutropenia |
14 |
1846 |
|
CMP079 |
Complete Septate Uterus |
14 |
1847 |
|
SYN112 |
Syndromic Microphthalmia-Anophthalmia-Coloboma |
14 |
1848 |
|
ACR022 |
Acardia |
14 |
1849 |
|
APV001 |
Aapoaiv Amyloidosis |
14 |
1850 |
|
KNS003 |
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis |
14 |
1851 |
|
TBR012 |
Tuberculous Uveitis |
14 |
1852 |
|
MXL011 |
Maxillofacial Dysostosis |
14 |
1853 |
|
PNS014 |
Penis Agenesis |
14 |
1854 |
|
GSB001 |
Gas Bloat Syndrome |
14 |
1855 |
P
|
LTH050 |
Lethal Chondrodysplasia |
14 |
1856 |
|
UNC008 |
Unclassified Myelodysplastic Syndrome |
14 |
1857 |
c
|
MYC054 |
Mycobacterium Tuberculosis 2 |
14 |
1858 |
|
CHR194 |
Chromosome 13q Duplication |
14 |
1859 |
|
NNH006 |
Non-Herpetic Acute Limbic Encephalitis |
14 |
1860 |
|
MTP017 |
Metaphyseal Chondrodysplasia, Kaitila Type |
14 |
1861 |
|
IRS009 |
Iris Hypoplasia with Glaucoma |
14 |
1862 |
c
|
WSK003 |
Wiskott-Aldrich Syndrome, Autosomal Dominant Form |
14 |
1863 |
|
MSC080 |
Mosaic Trisomy 12 |
14 |
1864 |
|
CHR240 |
Chromosome 2q Duplication |
14 |
1865 |
|
ANN013 |
Annular Atrophic Lichen Planus |
14 |
1866 |
|
DGT004 |
Digitalis Poisoning |
14 |
1867 |
|
INT102 |
Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity |
14 |
1868 |
|
MDM005 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
14 |
1869 |
|
DRT002 |
Duarte Variant Galactosemia |
14 |
1870 |
|
CLF036 |
Cleft Tongue |
14 |
1871 |
|
STR070 |
Startle Epilepsy |
14 |
1872 |
|
DST055 |
Distal 22q11.2 Microduplication Syndrome |
14 |
1873 |
|
BSL013 |
Basaloid Follicular Hamartoma |
14 |
1874 |
|
CHR214 |
Chromosome 18q Duplication |
14 |
1875 |
|
TLN004 |
Talonavicular Coalition |
14 |
1876 |
|
PTR014 |
Paternal 20q13.2q13.3 Microdeletion Syndrome |
14 |
1877 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
14 |
1878 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
14 |
1879 |
|
ITC001 |
Itch E3 Ubiquitin Ligase Deficiency |
14 |
1880 |
|
HYP660 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
14 |
1881 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
14 |
1882 |
|
MYS071 |
Myasthenia, Limb-Girdle, Autoimmune |
14 |
1883 |
|
THR122 |
Thoracic Malformation |
14 |
1884 |
|
CHR196 |
Chromosome 14q Duplication |
14 |
1885 |
c
|
ANR028 |
Aneurysm, Intracranial Berry, 3 |
14 |
1886 |
c
|
ANR050 |
Aneurysm, Intracranial Berry, 12 |
14 |
1887 |
|
NCT004 |
N Acetyltransferase Deficiency |
14 |
1888 |
|
CNG472 |
Congenital Insensitivity to Pain with Severe Intellectual Disability |
14 |
1889 |
|
SPN357 |
Spondyloepimetaphyseal Dysplasia, Micromelic |
14 |
1890 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
1891 |
c
|
ADL074 |
Adult-Onset Distal Myopathy Due to Vcp Mutation |
14 |
1892 |
|
CNG120 |
Congenital Pseudoarthrosis |
14 |
1893 |
|
PDT046 |
Pediatric-Onset Graves Disease |
14 |
1894 |
|
GST058 |
Gestational Diabetes Insipidus |
14 |
1895 |
|
ORB018 |
Orbital Leiomyoma |
14 |
1896 |
|
CLS034 |
Clostridium Septicum Infection |
14 |
1897 |
|
PHR010 |
Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome |
14 |
1898 |
|
CHR249 |
Chromosome 4q Deletion |
14 |
1899 |
|
TRC061 |
Trichostasis Spinulosa |
14 |
1900 |
|
CHR207 |
Chromosome 16q Duplication |
14 |
1901 |
c
|
SPS038 |
Spastic Paraplegia 39 |
14 |
1902 |
|
SCN063 |
Scn2a Related Disorders |
14 |
1903 |
|
CHR256 |
Chromosome 6p Duplication |
14 |
1904 |
c
|
BCT018 |
Bacterial Myositis |
14 |
1905 |
|
TRG013 |
Trigeminal Autonomic Cephalalgia |
14 |
1906 |
|
CRY037 |
Cryptophthalmia |
14 |
1907 |
|
GLT037 |
Gluteal Muscles, Absence of |
14 |
1908 |
c
|
NNP008 |
Nanophthalmos 3 |
14 |
1909 |
|
DPL003 |
Diploid-Triploid Mosaicism |
14 |
1910 |
c
|
ANR011 |
Aneurysm, Intracranial Berry, 2 |
14 |
1911 |
c
|
SLV030 |
Silver-Russell Syndrome 4 |
14 |
1912 |
|
ETH013 |
Euthyroid Graves Orbitopathy |
14 |
1913 |
|
AMB005 |
Amoebiasis Due to Free-Living Amoebae |
14 |
1914 |
P
|
ICH074 |
Ichthyosis, Lamellar, Autosomal Dominant |
14 |
1915 |
c
|
PSD024 |
Pseudo Pelger-Huet Anomaly |
14 |
1916 |
|
ISD002 |
Isodicentric Chromosome 15 Syndrome |
14 |
1917 |
|
LNR012 |
Linear Verrucous Nevus Syndrome |
14 |
1918 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
1919 |
|
CHR244 |
Chromosome 3p Duplication |
14 |
1920 |
|
EXG001 |
Exogenous Ochronosis |
14 |
1921 |
|
CCH006 |
Cochleosaccular Degeneration with Progressive Cataracts |
14 |
1922 |
c
|
PRK097 |
Porokeratosis 5, Disseminated Superficial Actinic Type |
14 |
1923 |
|
PPL044 |
Papular Elastorrhexis |
14 |
1924 |
|
CHR198 |
Chromosome 15q Deletion |
13 |
1925 |
|
ACC011 |
Accessory Mitral Valve Tissue |
13 |
1926 |
|
ISL128 |
Isolated Microspherophakia |
13 |
1927 |
|
JXT004 |
Juxtaposition of the Atrial Appendages |
13 |
1928 |
|
CHR254 |
Chromosome 5q Duplication |
13 |
1929 |
|
CHR468 |
Chronic Pneumonitis of Infancy |
13 |
1930 |
|
LFT005 |
Left-Sided Gallbladder |
13 |
1931 |
c
|
ACQ026 |
Acquired Pseudoxanthoma Elasticum |
13 |
1932 |
|
DBS003 |
Dibasic Amino Aciduria I |
13 |
1933 |
|
CHR183 |
Chromosome 10q Deletion |
13 |
1934 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
13 |
1935 |
|
SHR117 |
Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms |
13 |
1936 |
|
ORB016 |
Orbital Varix |
13 |
1937 |
|
MCR186 |
Microtriplication 11q24.1 |
13 |
1938 |
|
PRM153 |
Primary Progressive Apraxia of Speech |
13 |
1939 |
|
FMR007 |
Femur Bifid with Monodactylous Ectrodactyly |
13 |
1940 |
|
URC012 |
Urachal Sinus |
13 |
1941 |
|
CNG400 |
Congenital Hereditary Endothelial Dystrophy Type I |
13 |
1942 |
|
EPL095 |
Epilepsy with Myoclonic Absences |
13 |
1943 |
c
|
SPS022 |
Spastic Paraplegia 12 |
13 |
1944 |
c
|
SPS029 |
Spastic Paraplegia 19 |
13 |
1945 |
|
SML040 |
Smoldering Systemic Mastocytosis |
13 |
1946 |
c
|
TRN078 |
Transient Antenatal Bartter Syndrome |
13 |
1947 |
|
ANN015 |
Anonychia with Flexural Pigmentation |
13 |
1948 |
|
ONY004 |
Onychocytic Matricoma |
13 |
1949 |
|
SPN414 |
Spondylometaphyseal Dysplasia, East African Type |
13 |
1950 |
c
|
DPD002 |
Depdc5-Related Epilepsy |
13 |
1951 |
|
ICH018 |
Ichthyosis Linearis Circumflexa |
13 |
1952 |
|
DYS181 |
Dyssegmental Dysplasia with Glaucoma |
13 |
1953 |
|
PRX083 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
13 |
1954 |
|
SVR061 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
13 |
1955 |
c
|
MYM005 |
Moyamoya Disease 3 |
13 |
1956 |
|
CHR274 |
Chromosome Xq Duplication |
13 |
1957 |
c
|
CSK002 |
Cask-Related Intellectual Disability |
13 |
1958 |
|
HYP482 |
Hyperinsulinism Due to Ucp2 Deficiency |
13 |
1959 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
13 |
1960 |
|
ACR113 |
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma |
13 |
1961 |
c
|
FCL065 |
Facial Palsy, Familial Recurrent Peripheral |
13 |
1962 |
|
ANN009 |
Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly |
13 |
1963 |
c
|
RST013 |
Restless Legs Syndrome 2 |
13 |
1964 |
|
DYT003 |
Dyt-Gnal |
13 |
1965 |
|
SBP003 |
Subependymal Nodular Heterotopia |
13 |
1966 |
|
CHR192 |
Chromosome 12q Duplication |
13 |
1967 |
|
PST104 |
Postaxial Oligodactyly, Tetramelic |
13 |
1968 |
|
CRN271 |
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism |
13 |
1969 |
|
CRN039 |
Carnitine Acetyltransferase Deficiency |
13 |
1970 |
c
|
TRS027 |
Torsion Dystonia 4 |
13 |
1971 |
|
CHR271 |
Chromosome 9q Deletion |
13 |
1972 |
|
MGL007 |
Megalocytic Interstitial Nephritis |
13 |
1973 |
P
|
MYP124 |
Myopathy, Distal, Infantile-Onset |
13 |
1974 |
|
MCR367 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
13 |
1975 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
13 |
1976 |
c
|
RST014 |
Restless Legs Syndrome 3 |
13 |
1977 |
|
DST013 |
Distal Myopathy with Vocal Cord Weakness |
13 |
1978 |
|
HRR003 |
Herrmann Opitz Craniosynostosis |
13 |
1979 |
|
IDP017 |
Idiopathic Dilatation of the Pulmonary Artery |
13 |
1980 |
c
|
SPS035 |
Spastic Paraplegia 29 |
13 |
1981 |
|
EPP019 |
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia |
13 |
1982 |
|
MTS004 |
Metastatic Insulinoma |
13 |
1983 |
|
EXT060 |
Extragonadal Teratoma |
13 |
1984 |
|
SPN435 |
Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia |
13 |
1985 |
|
5Q3001 |
5q35 Microduplication Syndrome |
13 |
1986 |
c
|
DYS194 |
Dysautonomia-Like Disorder |
13 |
1987 |
|
CMP062 |
Complication After Organ Transplantation |
13 |
1988 |
c
|
MXD037 |
Mixed Cryoglobulinemia Type Iii |
13 |
1989 |
|
APR008 |
Aprosencephaly and Cerebellar Dysgenesis |
13 |
1990 |
|
IDP038 |
Idiopathic Acute Transverse Myelitis |
13 |
1991 |
|
ISL036 |
Isolated Pulmonary Capillaritis |
13 |
1992 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
1993 |
|
PRT206 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 |
13 |
1994 |
|
EXS015 |
Exostoses with Anetodermia and Brachydactyly, Type E |
13 |
1995 |
|
INV015 |
Invasive Non-Typhoidal Salmonellosis |
13 |
1996 |
|
GZR001 |
Guizar Vasquez Sanchez Manzano Syndrome |
13 |
1997 |
|
ATL006 |
Atlanto-Axial Fusion |
13 |
1998 |
|
BLD072 |
Bleeding Disorder, East Texas Type |
13 |
1999 |
c
|
ANR022 |
Aneurysm, Intracranial Berry, 4 |
13 |
2000 |
c
|
ANR029 |
Aneurysm, Intracranial Berry, 6 |
13 |
2001 |
c
|
SLV020 |
Silver-Russell Syndrome Due to a Point Mutation |
13 |
2002 |
|
DVR007 |
Diverticulosis of Bowel, Hernia, and Retinal Detachment |
13 |
2003 |
|
HMN034 |
Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe |
13 |
2004 |
|
BNG042 |
Benign Multicystic Peritoneal Mesothelioma |
13 |
2005 |
P
|
ANT062 |
Anterior Urethral Valve |
13 |
2006 |
|
SKD001 |
Sakoda Complex |
13 |
2007 |
|
CHR223 |
Chromosome 1q Deletion |
13 |
2008 |
c
|
KLL005 |
Kallmann Syndrome 3 |
13 |
2009 |
|
VRT011 |
Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis |
13 |
2010 |
P
|
HRD194 |
Hereditary Geniospasm |
13 |
2011 |
|
RKT003 |
Rokitansky-Aschoff Sinuses of the Gallbladder |
13 |
2012 |
|
LRY034 |
Laryngotracheal Angioma |
13 |
2013 |
|
MLT168 |
Multicore Disease |
13 |
2014 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
13 |
2015 |
c
|
CLD018 |
Cleidocranial Dysplasia, Recessive Form |
13 |
2016 |
|
CHR189 |
Chromosome 12p Deletion |
13 |
2017 |
|
PHC005 |
Phacomatosis Pigmentokeratotica |
13 |
2018 |
|
11P002 |
11p15.4 Microduplication Syndrome |
13 |
2019 |
|
PRT178 |
Partial Deletion of the Long Arm of Chromosome 5 |
13 |
2020 |
c
|
SBC037 |
Subacute Inflammatory Demyelinating Polyneuropathy |
13 |
2021 |
|
RWL001 |
Rowley-Rosenberg Syndrome |
13 |
2022 |
|
ASP009 |
Aspergillus Niger Infection |
13 |
2023 |
c
|
SPS034 |
Spastic Paraplegia 26 |
13 |
2024 |
|
VRB002 |
Variably Protease-Sensitive Prionopathy |
13 |
2025 |
|
ATT023 |
Attenuated Chediak-Higashi Syndrome |
13 |
2026 |
c
|
ANR024 |
Aneurysm, Intracranial Berry, 9 |
13 |
2027 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
13 |
2028 |
|
MYL078 |
Myelodysplastic Syndrome with Single Lineage Dysplasia |
13 |
2029 |
|
MTT008 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
13 |
2030 |
|
TRT022 |
True Thymic Hyperplasia |
13 |
2031 |
c
|
HPT084 |
Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection |
13 |
2032 |
|
PLG007 |
Pili Gemini |
13 |
2033 |
|
LTN022 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
13 |
2034 |
|
CHN047 |
Chondroectodermal Dysplasia with Night Blindness |
13 |
2035 |
|
RCN002 |
Ricin Poisoning |
13 |
2036 |
|
GRN042 |
Granulomatous Lobular Mastitis |
13 |
2037 |
c
|
VCN001 |
Vcan-Related Vitreoretinopathy |
13 |
2038 |
|
MCR299 |
Microlissencephaly-Micromelia Syndrome |
13 |
2039 |
|
EXS022 |
Exostosis, Dupuytren Subungual |
12 |
2040 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
12 |
2041 |
|
CHR197 |
Chromosome 15, Trisomy Mosaicism |
12 |
2042 |
|
BLL014 |
Bullous Diffuse Cutaneous Mastocytosis |
12 |
2043 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
12 |
2044 |
|
RBL002 |
Rubella Panencephalitis |
12 |
2045 |
c
|
ATS165 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
12 |
2046 |
|
LMY006 |
Leiomyoma of Vulva and Esophagus |
12 |
2047 |
|
CHR258 |
Chromosome 6q Duplication |
12 |
2048 |
|
HLL011 |
Hall-Riggs Syndrome |
12 |
2049 |
|
ERL023 |
Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation |
12 |
2050 |
c
|
RST015 |
Restless Legs Syndrome 4 |
12 |
2051 |
|
PCR003 |
Pauciarticular Onset Juvenile Idiopathic Arthritis |
12 |
2052 |
|
BWH001 |
Bow Hunter's Stroke |
12 |
2053 |
|
INT300 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
12 |
2054 |
|
THR034 |
Thoracopelvic Dysostosis |
12 |
2055 |
c
|
SLV022 |
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 |
12 |
2056 |
c
|
SCN066 |
Secondary Erythromelalgia |
12 |
2057 |
|
PRV008 |
Parvovirus Antenatal Infection |
12 |
2058 |
P
|
CNG326 |
Congenital Primary Megaureter |
12 |
2059 |
|
THS001 |
Thai Symphalangism Syndrome |
12 |
2060 |
|
LRG010 |
L-Arginine:glycine Amidinotransferase Deficiency |
12 |
2061 |
c
|
EPL009 |
Epilepsy Progressive Myoclonic Type 3 |
12 |
2062 |
|
NND005 |
Non-Distal Trisomy 13q |
12 |
2063 |
|
PRR018 |
Preauricular Sinus |
12 |
2064 |
|
MRV001 |
Morvan's Fibrillary Chorea |
12 |
2065 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
12 |
2066 |
|
IDP023 |
Idiopathic Subglottic Tracheal Stenosis |
12 |
2067 |
|
MRF015 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
12 |
2068 |
|
IRF001 |
Irf6-Related Disorders |
12 |
2069 |
|
ECT024 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features |
12 |
2070 |
|
EPP018 |
Epiphyseal Dysplasia, Multiple, with Miniepiphyses |
12 |
2071 |
|
CLR130 |
Ciliary Dyskinesia with Defective Radial Spokes |
12 |
2072 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
12 |
2073 |
|
CHR556 |
Chromosome 3q Duplication |
12 |
2074 |
c
|
SPS033 |
Spastic Paraplegia 25 |
12 |
2075 |
c
|
SPS161 |
Spastic Paraplegia 32 |
12 |
2076 |
c
|
ANR026 |
Aneurysm, Intracranial Berry, 5 |
12 |
2077 |
c
|
ANR023 |
Aneurysm, Intracranial Berry, 7 |
12 |
2078 |
c
|
ANR030 |
Aneurysm, Intracranial Berry, 8 |
12 |
2079 |
c
|
CRN068 |
Corneal Endothelial Dystrophy Type 2 |
12 |
2080 |
|
LBR027 |
Laubry-Pezzi Syndrome |
12 |
2081 |
|
SPR080 |
Spirillary Rat-Bite Fever |
12 |
2082 |
|
CD4004 |
Cd4 Deficiency |
12 |
2083 |
|
FBR026 |
Fibromatosis Multiple Non Ossifying |
12 |
2084 |
|
ACR089 |
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia |
12 |
2085 |
|
INT305 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
12 |
2086 |
|
GLM017 |
Glomus Tympanicum Tumor |
12 |
2087 |
|
MNN041 |
Mannose-Binding Lectin Protein Deficiency |
12 |
2088 |
|
ANR041 |
Aniridia-Intellectual Disability Syndrome |
12 |
2089 |
|
MSN011 |
Mesangioproliferative Glomerulopathy |
12 |
2090 |
|
LPM011 |
Lip, Median Nodule of Upper |
12 |
2091 |
|
INF059 |
Infundibulopelvic Dysgenesis |
12 |
2092 |
|
SPR028 |
Spirochetes Disease |
12 |
2093 |
|
TRN045 |
True Unicornuate Uterus |
12 |
2094 |
|
HRD141 |
Hereditary Proximal Myopathy with Early Respiratory Failure |
12 |
2095 |
|
PLM053 |
Pulmonary Artery Agenesis |
12 |
2096 |
|
PTT038 |
Pituitary Deficiency Due to Empty Sella Turcica Syndrome |
12 |
2097 |
|
CYS035 |
Cystic Adventitial Disease |
12 |
2098 |
c
|
PPL045 |
Papular Mucinosis of Infancy |
12 |
2099 |
P
|
TRS005 |
Torsion Dystonia with Onset in Infancy |
12 |
2100 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
2101 |
|
MRR013 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
12 |
2102 |
|
NSL021 |
Nasal Encephalocele |
12 |
2103 |
c
|
PRG144 |
Progressive Myoclonus Epilepsy 1b |
12 |
2104 |
|
CHR233 |
Chromosome 21q Deletion |
12 |
2105 |
c
|
CNG618 |
Congenital Nystagmus 1 |
12 |
2106 |
|
CHR195 |
Chromosome 14q Deletion |
12 |
2107 |
|
ISL131 |
Isolated Foveal Hypoplasia |
12 |
2108 |
|
CMP031 |
Complement Component Deficiency |
12 |
2109 |
c
|
RST021 |
Restless Legs Syndrome 5 |
12 |
2110 |
|
CHR206 |
Chromosome 16q Deletion |
12 |
2111 |
|
GLS016 |
Glossopalatine Ankylosis |
12 |
2112 |
|
NNP018 |
Non-Paraneoplastic Limbic Encephalitis |
12 |
2113 |
c
|
KLZ002 |
Kala-Azar 2 |
12 |
2114 |
c
|
ANR025 |
Aneurysm, Intracranial Berry, 10 |
12 |
2115 |
c
|
HRD211 |
Hereditary Dentin Defect |
12 |
2116 |
|
CRP029 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
12 |
2117 |
c
|
CNG343 |
Congenital Coronary Artery Aneurysm |
12 |
2118 |
|
LCT018 |
Lactobezoar |
12 |
2119 |
|
RHZ006 |
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa |
12 |
2120 |
|
ART129 |
Arterial Dissection with Lentiginosis |
12 |
2121 |
|
CHR458 |
Chromosome 9 Inversion |
12 |
2122 |
|
RTN201 |
Retinoschisis, Autosomal Dominant |
12 |
2123 |
c
|
ATS423 |
Autosomal Dominant Wolfram Syndrome |
12 |
2124 |
c
|
INF119 |
Infantile Mercury Poisoning |
12 |
2125 |
|
PRL020 |
Paralysis Agitans, Juvenile, of Hunt |
12 |
2126 |
|
FGS003 |
Fg Syndrome 3 |
12 |
2127 |
|