Next-Gen Disease Screen

Next-Gen Disease Screen: Revolutionizing Genomic Health

Get ready to understand your health like never before with our Next-Gen Disease Screen (NGDS). This groundbreaking app takes genetic analysis to a new level, delivering insights previously unattainable.

NGDS caters to your unique needs with various versions, from a free analysis of 100 conditions to a professional version with weekly updates, covering an expansive range of over 15,000 conditions​​. Stay continually informed with updates reflecting the latest in genetic research, and combine NGDS with the Health Scan app for even more personalized health insights​​.

Your genetic journey can begin with any DNA test, thanks to NGDS's universal compatibility. It's especially powerful with whole genome sequencing data, offering a truly all-encompassing analysis​​.

Be inspired by Dr. Brandon Colby's personal journey (read his story below!), showcasing the transformative impact of NGDS in solving complex health mysteries and empowering informed family health decisions​​.

Ready to revolutionize your health understanding? Start your NGDS experience now by signing up, uploading your DNA data, and exploring the app for free​​. Join the genetic revolution today!

The Upgrade To Our Rare Disease Screen That You've Been Waiting For

We are proud to introduce the Next-Gen Disease Screen (NGDS), an exciting leap forward in our suite of health-focused applications. NGDS succeeds our popular Rare Disease Screen app, taking its core capabilities and magnifying them for an unprecedented range of genetic insight.

If you've been waiting for the upgrade to our popular Rare Disease Screen v2, NGDS is it! The upgrade is such a quantum leap forward that we've also upgraded the name to Next-Gen Disease Screen.

Empowering Your Health Journey

Traditional labs charge thousands of dollars to test for a single disease, and at most, up to 30 diseases. These expensive tests often only scratch the surface of your genes, leaving a wealth of crucial information untouched.

NGDS is here to change that narrative. Analyzing whole genome sequencing data, NGDS provides a straightforward assessment of your genetic risk for more than 15,000 diseases, conditions, traits, and medication reactions. This transformative tool enables you to screen your entire genome for almost every disease with a known genetic component.

No longer is this profound level of understanding reserved for laboratories or specialists; it's available at your fingertips.

Choose the Right NGDS Version for You

We've created different versions of NGDS to suit your needs:

• Free: Get on board with free genetic analysis for 100 conditions.
• Plus: Dive deeper with genetic analysis for 1,000 conditions. Stay updated with results refreshed every 3 months.
• Premium: Unleash comprehensive analysis for  more than 15,000 conditions with monthly updates.
• Professional: With updates every week, we ensure your results stay on the cutting edge of genetic discoveries.

Choose the version that best aligns with your health goals.

List of Conditions Included In Each Version

• Free and Plus: Click the 'Compare Versions' tab to view the list.
• Premium and Professional:  Search the full list of 15,000+ conditions (diseases, medication reactions, and traits)

Stay Up-to-Date With Continual Updates

Genetic research is always changing, and NGDS keeps up. We update the Professional version weekly, the Premium version monthly, and the Plus version quarterly to ensure your results are based on the latest genetic research.

NGDS is further enhanced when used in conjunction with our  Health Scan app. While NGDS provides up-to-date genetic insights, Health Scan alerts you whenever there is new research and discoveries that could impact your health.

Universal Compatibility: Any Test, Anywhere

Your journey with NGDS can start anywhere. Our app is designed to analyze genetic data from nearly any DNA test, whether it's from clinical labs or consumer DNA tests like 23andMe, AncestryDNA, and MyHeritage.

While it can work with all, NGDS is tailor-made for  whole genome sequencing data. WGS data allows NGDS to perform comprehensive analysis for all 15,000+ conditions, making it truly universal.

From Our Founder’s Heart: Dr. Brandon Colby's Story

The story of Dr. Brandon Colby, Sequencing.com's founder, is a testament to the transformative power of the Next-Gen Disease Screen (NGDS).

Born with a perplexing health issue, extensive blistering on his feet and hands, his childhood was marked by uncertainty. His concerned parents sought answers from countless doctors, submitted to numerous tests, including surgical skin biopsies, only to be met with confusion and guesswork. During this diagnostic odyssey the definitive diagnosis remained frustratingly out of reach. His parent's recount that this was a heart-wrenching time, the helplessness of not knowing exacerbating their anxiety.

Throughout the years, Dr. Colby underwent various types of genetic testing, utilizing every known genetic analysis tool in the search for answers. Yet, despite these efforts and his expertise as a clinical geneticist, none of these tools could pinpoint the precise genetic variant causing his condition. It was only when he used the Next-Gen Disease Screen that the fog of uncertainty finally lifted.

NGDS identified the exact genetic root of his condition - a mutation in the KRT14 gene known as rs58645163. The identification of this variant was a eureka moment, providing a definitive answer that had eluded him and his family for decades.

Now, armed with this knowledge, Dr. Colby and his wife can make informed decisions about their family's future. They understand their children won't have the disease, given his wife isn't a carrier of the KRT14 mutation. They also know there's a 50% chance their children could be carriers. This certainty, borne out of NGDS' accurate genetic analysis, provides a level of reassurance that is truly priceless.

Dr. Colby's personal journey is a compelling testament to the life-changing potential of the Next-Gen Disease Screen. His story demonstrates how NGDS can help end diagnostic odysseys, replacing fear and uncertainty with knowledge and empowerment.

Results From Dr. Colby's Next-Gen Disease Screen

Join Us in the Genetic Revolution

Experience the transformative potential of the Next-Gen Disease Screen:

1. Sign up for a Sequencing account.
2. Upload your data from another DNA test or order one of our Whole Genome Sequencing bundles that include NGDS.
3. Start using the NGDS app for free.

Are you ready to redefine how you understand your health? Embark on your journey with NGDS today.

Choose the Right NGDS Version for You

We've created different versions of NGDS to suit your needs:

• Free: Get on board with free genetic analysis for 100 conditions.
• Plus: Dive deeper with genetic analysis for 1,000 conditions. Stay updated with results refreshed every 3 months.
• Premium: Unleash comprehensive analysis for more than 15,000 conditions with monthly updates.
• Professional: With updates every week, we ensure your results stay on the cutting edge of genetic discoveries.

Stay Up-to-Date With Continual Updates

Genetic research is always changing, and NGDS keeps up. We update the Professional version weekly, the Premium version monthly, and the Plus version quarterly to ensure your results are based on the latest genetic research.

NGDS is further enhanced when used in conjunction with our Health Scan app. While NGDS provides up-to-date genetic insights, Health Scan alerts you whenever there is new research and discoveries that could impact your health.

Summary Reports (downloadable as PDFs)

The Premium and Professional versions include AI-generated Summary Reports that provide a clear overview of the results along with next steps. Premium Summary Reports are updated each month while genomes on the Professional Genome Plan receive updated Summary Reports every week. Summary reports are safely stored in your account and can be easily downloaded as PDFs.

Conditions Included In The Premium and Professional Versions

Click here to search the list of all 15,000+ conditions and 20,000+ genes analyzed as part of the Next-Gen Disease Screen Premium and Professional versions. You can also search by symptom.

Conditions Included In The Free and Plus Versions

The list below indicates the conditions included in the Free version (around 100 conditions) and Plus version (around 1,000 conditions).

	Condition Name	Free	Plus
1	3-Methylglutaconic Aciduria	X	X
2	3-Methylglutaconic Aciduria Type 8	X	X
3	3-Methylglutaconic Aciduria Type 9	X	X
4	Adams-Oliver Syndrome 4	X	X
5	Age-Related Macular Degeneration 5	X	X
6	Age Related Macular Degeneration 6	X	X
7	Autosomal Dominant Robinow Syndrome 1	X	X
8	Autosomal Dominant Robinow Syndrome 3	X	X
9	Autosomal Recessive Nonsyndromic Hearing Loss 102	X	X
10	Autosomal Recessive Spinocerebellar Ataxia 14	X	X
11	Bardet-Biedl Syndrome 12	X	X
12	Brugada Syndrome 8	X	X
13	Brugada Syndrome 9	X	X
14	Celiac Disease, Susceptibility to, III	X	X
15	Celiac Disease, Susceptibility to, IV	X	X
16	Charcot-Marie-Tooth Disease Axonal Type 2P	X	X
17	Coffin-Siris Syndrome 8	X	X
18	Cowden Syndrome 5	X	X
19	Cystic Fibrosis	X	X
20	Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	X	X
21	Cystic Fibrosis; CFTR-Related Disorders	X	X
22	Cystic Fibrosis; Congenital Bilateral Aplasia of Vas Deferens from CFTR Mutation	X	X
23	Cystic Fibrosis; Hereditary Pancreatitis	X	X
24	Cystic Fibrosis; Systemic Lupus Erythematosus; Malaria, Susceptibility to	X	X
25	Dejerine-Sottas Disease	X	X
26	Dent Disease Type 2	X	X
27	Dent Disease Type 2; Lowe Syndrome	X	X
28	Ehlers-Danlos Syndrome due to Tenascin-X Deficiency	X	X
29	Ehlers-Danlos Syndrome due to Tenascin-X Deficiency; Vesicoureteral Reflux	X	X
30	Ehlers-Danlos Syndrome due to Tenascin-X Deficiency; Vesicoureteral Reflux 8	X	X
31	Ehlers-Danlos Syndrome Progeroid Type	X	X
32	Ehlers-Danlos Syndrome Type 7A	X	X
33	Ehlers-Danlos Syndrome, Dermatosparaxis Type	X	X
34	Ehlers-Danlos Syndrome, Nonvascular Variant	X	X
35	Ehlers-Danlos Syndrome, Type 4	X	X
36	Ehlers-Danlos Syndrome, Type 4; Ehlers-Danlos Syndrome, Type 3	X	X
37	Ehlers-Danlos Syndrome, Type 4; Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome	X	X
38	Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate or Severe, Autosomal Recessive	X	X
39	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive	X	X
40	Factor VII Deficiency	X	X
41	Familial Erythrocytosis	X	X
42	Frasier Syndrome	X	X
43	Gaucher Disease	X	X
44	Gaucher Disease due to Saposin C Deficiency	X	X
45	Gaucher Disease due to Saposin C Deficiency; Krabbe Disease due to Saposin A Deficiency; Combined PSAP Deficiency; Sphingolipid Activator Protein 1 Deficiency	X	X
46	Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to	X	X
47	Gaucher Disease Perinatal Lethal	X	X
48	Gaucher Disease Type I	X	X
49	Gaucher Disease Type I; Gaucher Disease Type II; Gaucher Disease Type III	X	X
50	Gaucher Disease Type I; Gaucher Disease Type II; Gaucher Disease Type III; Gaucher Disease Perinatal Lethal; Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	X	X
51	Gaucher Disease Type I; Gaucher Disease Type II; Gaucher Disease Type III; Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	X	X
52	Gaucher Disease Type II	X	X
53	Gaucher Disease Type III	X	X
54	Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	X	X
55	Gillespie Syndrome	X	X
56	Glycogen Storage Disease II, Adult Form	X	X
57	Glycogen Storage Disease IXa1	X	X
58	Glycogen Storage Disease IXb	X	X
59	Glycogen Storage Disease, Type IV	X	X
60	Glycogen Storage Disease, Type IV; Glycogen Storage Disease IV, Classic Hepatic	X	X
61	Glycogen Storage Disease, Type IV; Polyglucosan Body Myopathy Type 1	X	X
62	Hemochromatosis Type 4	X	X
63	Hemochromatosis Type V	X	X
64	Hepatitis B Virus, Susceptibility to	X	X
65	Hepatitis B Virus, Susceptibility to; Inflammatory Bowel Disease 25	X	X
66	Immunodeficiency 74, Covid-19-Related, X-Linked	X	X
67	Intellectual Disability with Severe Speech Impairment	X	X
68	Intellectual Disability, X-Linked 90	X	X
69	Intellectual Disability, X-Linked 91	X	X
70	Joubert Syndrome 2	X	X
71	Joubert Syndrome 3	X	X
72	Maple Syrup Urine Disease Type 2	X	X
73	Marfan Syndrome	X	X
74	Marfan Syndrome, Atypical	X	X
75	Mortality Risk in Patients with Severe Coronavirus Disease (COVID-19)	X	X
76	Mucolipidosis Type II	X	X
77	Niemann-Pick Disease, Type A	X	X
78	Niemann-Pick Disease, Type C	X	X
79	Niemann-Pick Disease, Type C1	X	X
80	Niemann-Pick Disease, Type C1, Adult Form	X	X
81	Niemann-Pick Disease, Type C1, Juvenile Form	X	X
82	Niemann-Pick Disease, Type C2	X	X
83	Niemann-Pick Disease, Type D	X	X
84	Noonan Syndrome 13	X	X
85	Osteogenesis Imperfecta Type 12	X	X
86	Osteogenesis Imperfecta Type 13	X	X
87	Retinitis Pigmentosa 20	X	X
88	Retinitis Pigmentosa 23	X	X
89	Senior-Loken Syndrome 5	X	X
90	Severe Combined Immunodeficiency Disease	X	X
91	Severe Combined Immunodeficiency due to CARD11 Deficiency	X	X
92	Sialidosis	X	X
93	Sialidosis Type I	X	X
94	Susceptibility to Coronavirus Disease (COVID-19) Severity and Mortality due to Low Plasma Levels of MUC5B	X	X
95	Susceptibility to Severe Coronavirus Disease (COVID-19)	X	X
96	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to an Impaired Coagulation Process	X	X
97	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to High Plasma Levels of TNF, TNFR, and/or TNFR2	X	X
98	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to High Plasma Levels of TNF, TNFR, and/or TNFR3	X	X
99	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to High Plasma Levels of TNF, TNFR, and/or TNFR4	X	X
100	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to High Plasma Levels of TNF, TNFR, and/or TNFR5	X	X
101	Susceptibility to Severe Coronavirus Disease (COVID-19) Due to High Plasma Levels of TNF, TNFR, and/or TNFR6	X	X
102	Susceptibility to Severe Coronavirus Disease (COVID-19) due to High Plasma Levels of TNF, TNFR, and/or TNFR7	X	X
103	Susceptibility to Severe COVID-19	X	X
104	Tay-Sachs Disease	X	X
105	Tay-Sachs Disease, B1 Variant	X	X
106	Tay-Sachs Disease, Juvenile	X	X
107	Tay-Sachs Disease, Juvenile/Adult	X	X
108	Tay-Sachs Disease, Variant AB	X	X
109	Tay-Sachs Disease, Variant AB; Tay-Sachs Disease	X	X
110	Treacher Collins Syndrome 3	X	X
111	Treacher Collins Syndrome 4	X	X
112	Usher Syndrome Type 1F	X	X
113	Usher Syndrome Type 1G	X	X
114	Usher Syndrome Type 1J	X	X
115	Von Willebrand Disease Type 2B	X	X
116	Von Willebrand Disease Type 2M	X	X
117	X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	X	X
118	Xeroderma Pigmentosum, Group C	X	X
119	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency		X
120	3-Methylglutaconic Aciduria Type 1		X
121	3-Methylglutaconic Aciduria Type 2		X
122	3-Methylglutaconic Aciduria Type 2; Primary Dilated Cardiomyopathy		X
123	3-Methylglutaconic Aciduria Type 3		X
124	3-Methylglutaconic Aciduria Type 3; Optic Atrophy 3		X
125	3-Methylglutaconic Aciduria Type 5		X
126	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome		X
127	3-Methylglutaconic Aciduria, Type VIIA		X
128	3-Methylglutaconic Aciduria, Type VIIB		X
129	3-Methylglutaconic Aciduria, Type VIIB; Neutropenia, Severe Congenital, 9, Autosomal Dominant; 3-Methylglutaconic Aciduria, Type VIIA		X
130	3M Syndrome 2		X
131	3M Syndrome 3		X
132	3MC Syndrome 2		X
133	3MC Syndrome 3		X
134	Aars2-Related Disorders		X
135	Aarskog Syndrome		X
136	Abacavir Hypersensitivity		X
137	ABCA4 Retinopathy		X
138	ABCA4-Related Disorders		X
139	ABCB4-Related Disorders		X
140	Abcb4-Related Intrahepatic Cholestasis		X
141	Achondrogenesis Type II		X
142	Achromatopsia		X
143	Achromatopsia II		X
144	Achromatopsia 3		X
145	Achromatopsia 3; Severe Early-Childhood-Onset Retinal Dystrophy		X
146	Achromatopsia 3; Severe Early-Childhood-Onset Retinal Dystrophy; Retinitis Pigmentosa		X
147	Achromatopsia IV		X
148	Achromatopsia V		X
149	Achromatopsia VI		X
150	Achromatopsia 7		X
151	Acromesomelic Dysplasia 2B		X
152	Acute Intermittent Porphyria		X
153	Adams-Oliver Syndrome 5		X
154	Adams-Oliver Syndrome V; Aortic Valve Disorder		X
155	Adams-Oliver Syndrome 6		X
156	Advanced Sleep Phase Syndrome III		X
157	Advanced Sleep Phase Syndrome, Familial, IV		X
158	Agammaglobulinemia		X
159	Agammaglobulinemia X, autosomal dominant		X
160	Agammaglobulinemia 2, Autosomal Recessive		X
161	Agammaglobulinemia 3, Autosomal Recessive		X
162	Agammaglobulinemia 4, Autosomal Recessive		X
163	Agammaglobulinemia 5, Autosomal Dominant		X
164	Agammaglobulinemia 6, Autosomal Recessive		X
165	Agammaglobulinemia 7, Autosomal Recessive		X
166	Agammaglobulinemia 8, Autosomal Dominant		X
167	Agammaglobulinemia 8, Autosomal Dominant; Agammaglobulinemia 8b, Autosomal Recessive		X
168	Agammaglobulinemia 8B, Autosomal Recessive		X
169	Agammaglobulinemia IX, autosomal recessive		X
170	Age Related Macular Degeneration 7		X
171	Age Related Macular Degeneration VIII		X
172	Age Related Macular Degeneration 9		X
173	Aicardi-Goutières Syndrome		X
174	Aicardi-Goutières Syndrome 1, Autosomal Dominant		X
175	Aicardi-Goutières Syndrome 1		X
176	Aicardi-Goutières Syndrome 1; Chilblain Lupus 1; Inborn Genetic Diseases		X
177	Aicardi-Goutières Syndrome 1; Chilblain Lupus 1; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations		X
178	Aicardi-Goutières Syndrome 1; Chilblain Lupus 1; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy		X
179	Aicardi-Goutières Syndrome 1; Chilblain Lupus 1; Systemic Lupus Erythematosus; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations		X
180	Aicardi-Goutières Syndrome 1; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations		X
181	Aicardi-Goutières Syndrome 2		X
182	Aicardi-Goutières Syndrome 3		X
183	Aicardi-Goutières Syndrome 4		X
184	Aicardi-Goutières Syndrome 5		X
185	Aicardi-Goutières Syndrome 5; Chilblain Lupus 2		X
186	Aicardi-Goutières Syndrome 6		X
187	Aicardi-Goutières Syndrome 7		X
188	Aicardi-Goutières Syndrome 8		X
189	Aicardi-Goutières Syndrome 9		X
190	Al-Gazali Syndrome; Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures; Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2		X
191	Alpha-N-acetylgalactosaminidase Deficiency Type 2		X
192	Alström Syndrome		X
193	Amelogenesis Imperfecta Type 1e		X
194	Amelogenesis Imperfecta Type 1F		X
195	Amelogenesis Imperfecta Type 1G		X
196	Amelogenesis Imperfecta Type 1H		X
197	Aortic Aneurysm, Familial Thoracic 10		X
198	Aortic Aneurysm, Familial Thoracic 11, Susceptibility to		X
199	Aortic Aneurysm, Familial Thoracic 12		X
200	Aortic Aneurysm, Familial Thoracic 7		X
201	Aortic Aneurysm, Familial Thoracic 7; Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1		X
202	Aortic Aneurysm, Familial Thoracic 8		X
203	Aortic Aneurysm, Familial Thoracic 9		X
204	Arhgef9-Related Disorder		X
205	Arhgef9-Related Neurodevelopmental Disorder		X
206	Arylsulfatase A Polymorphism		X
207	Arylsulfatase A Pseudodeficiency		X
208	Arylsulfatase A Pseudodeficiency, Intermediate		X
209	Arylsulfatase A Pseudodeficiency, Severe		X
210	Arylsulfatase A, Allele A		X
211	Asah1-Related Disorders		X
212	Atelosteogenesis Type II		X
213	Atrial Fibrillation, Familial, XIV		X
214	Atrial Fibrillation, Familial, XV		X
215	Atypical Gaucher disease		X
216	Autism, Susceptibility to, XVI		X
217	Autism, Susceptibility to, XVII		X
218	Autism, Susceptibility to, 18		X
219	Autism, Susceptibility to, XIX		X
220	Autism, Susceptibility to, 20		X
221	Autism, Susceptibility to, X-Linked 3		X
222	Autism, Susceptibility to, X-Linked 4		X
223	Autosomal Dominant Familial Hypercholesterolemia		X
224	Autosomal Dominant Robinow Syndrome 1; Autosomal Dominant Robinow Syndrome 2		X
225	Autosomal Dominant Robinow Syndrome 2		X
226	Autosomal Recessive Congenital Ichthyosis 5		X
227	Autosomal Recessive Congenital Ichthyosis 6		X
228	Autosomal Recessive Congenital Ichthyosis 8		X
229	Autosomal Recessive Congenital Ichthyosis 9		X
230	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C		X
231	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D		X
232	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E		X
233	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F		X
234	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N		X
235	Autosomal Recessive Nonsyndromic Hearing Loss 103		X
236	Autosomal Recessive Nonsyndromic Hearing Loss 104		X
237	Autosomal Recessive Nonsyndromic Hearing Loss 16		X
238	Autosomal Recessive Nonsyndromic Hearing Loss 31; Usher Syndrome Type 2D		X
239	Autosomal Recessive Nonsyndromic Hearing Loss 32		X
240	Autosomal Recessive Nonsyndromic Hearing Loss 35		X
241	Autosomal Recessive Nonsyndromic Hearing Loss 36		X
242	Autosomal Recessive Nonsyndromic Hearing Loss 36; Usher Syndrome, Type 1M		X
243	Autosomal Recessive Nonsyndromic Hearing Loss 37		X
244	Autosomal Recessive Nonsyndromic Hearing Loss 39		X
245	Autosomal Recessive Nonsyndromic Hearing Loss 97		X
246	Autosomal Recessive Nonsyndromic Hearing Loss 98		X
247	Autosomal Recessive Osteopetrosis 5		X
248	Autosomal Recessive Osteopetrosis 6		X
249	Autosomal Recessive Spinocerebellar Ataxia 15		X
250	Autosomal Recessive Spinocerebellar Ataxia 16		X
251	Autosomal Recessive Spinocerebellar Ataxia 16; Spinocerebellar Ataxia 48		X
252	Autosomal Recessive Spinocerebellar Ataxia 17		X
253	Autosomal Recessive Spinocerebellar Ataxia 18		X
254	Bardet-Biedl Syndrome 10		X
255	Bardet-Biedl Syndrome 11		X
256	Bardet-Biedl Syndrome 12, Modifier of		X
257	Bardet-Biedl Syndrome 13		X
258	Bardet-Biedl Syndrome 13; Meckel Syndrome, Type 1; Joubert Syndrome 28		X
259	Bardet-Biedl Syndrome 15		X
260	Bardet-Biedl Syndrome 16		X
261	Bardet-Biedl Syndrome 17		X
262	Bardet-Biedl Syndrome 18		X
263	Bardet-Biedl Syndrome 19		X
264	Bloom Syndrome		X
265	Breast-Ovarian Cancer, Familial, Susceptibility to, III		X
266	Breast-Ovarian Cancer, Familial, Susceptibility to, III; Fanconi Anemia Complementation Group O		X
267	Breast-Ovarian Cancer, Familial, Susceptibility to, 4		X
268	Bronchiectasis with or without elevated sweat chloride I; Cystic Fibrosis; Hereditary Pancreatitis; Congenital Bilateral Aplasia of Vas Deferens from CFTR Mutation		X
269	Brugada Syndrome 7		X
270	Café au lait spot		X
271	Café au lait spots, Multiple		X
272	Café au lait spots, multiple; Atrial Septal Defect		X
273	Café au lait spots, Multiple; Axillary freckling; Focal T2 Hyperintense Basal Ganglia Lesion		X
274	Café au lait spots, Multiple; Axillary freckling; Large Café-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling		X
275	Café au lait spots, Multiple; Delayed Speech and Language Development; Premature Birth; Infantile Muscular Hypotonia		X
276	Café au lait spots, Multiple; Motor delay; Focal-onset seizure		X
277	Café au lait spots, Multiple; Neurofibroma		X
278	Café au lait spots, Multiple; Neurofibroma; Abnormality of Vision		X
279	Café au lait spots, Multiple; Neurofibroma; Axillary freckling		X
280	Café au lait spots, Multiple; Neurofibroma; Axillary freckling; Inguinal freckling		X
281	Café au lait spots, Multiple; Neurofibroma; Axillary freckling; Optic nerve glioma		X
282	Café au lait spots, Multiple; Neurofibroma; Café-au-lait spot; Axillary freckling; Inguinal freckling		X
283	Café au lait spots, multiple; Optic Nerve Glioma		X
284	Café au lait spots, multiple; Subcutaneous neurofibromas		X
285	Café au lait spots, Multiple; Thoracic scoliosis; Subcutaneous neurofibromas		X
286	Café au lait spots, multiple; Tibial pseudarthrosis		X
287	Café au lait Macules with Pulmonary Stenosis		X
288	Café au lait Spot; Axillary Freckling; Optic Nerve Glioma		X
289	Café-au-lait Spot; Axillary Freckling; Plexiform Neurofibroma		X
290	Café-au-lait Spot; Macrocephaly; Tibial Pseudarthrosis		X
291	Canavan Disease, Familial Form		X
292	Cardiomyopathy, Dilated, 2D		X
293	Cardiomyopathy, Dilated, 2E		X
294	Cebalid Syndrome		X
295	Cednik Syndrome		X
296	Celiac Disease, Susceptibility to, 3; Type 1 Diabetes Mellitus 12; Hashimoto Thyroiditis; Systemic Lupus Erythematosus; Autoimmune Lymphoproliferative Syndrome due to CTLA4 Haploinsufficiency		X
297	Central Core Disease, Autosomal Recessive		X
298	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1		X
299	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2		X
300	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2; Hydrocephalus, Congenital, 3, with Brain Anomalies		X
301	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 3		X
302	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 4		X
303	Charcot-Marie-Tooth Disease Axonal Type 2q		X
304	Charcot-Marie-Tooth Disease Axonal Type 2S		X
305	Charcot-Marie-Tooth Disease Axonal Type 2T		X
306	Charcot-Marie-Tooth Disease Axonal Type 2T; Spinocerebellar Ataxia 43		X
307	Charcot-Marie-Tooth Disease Axonal Type 2U		X
308	Charcot-Marie-Tooth Disease Type 2A2		X
309	Charcot-Marie-Tooth Disease Type 2A2; Charcot-Marie-Tooth Disease Type 2A1; Charcot-Marie-Tooth Disease, Type 2A; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B; Neuropathy, Hereditary Motor and Sensory, Type 6A		X
310	Charcot-Marie-Tooth Disease Type 2A2; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B;		X
311	Charcot-Marie-Tooth Disease Type 2A2; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B; Neuropathy, Hereditary Motor and Sensory, Type 6A		X
312	Charcot-Marie-Tooth Disease Type 2A2; Hereditary Motor and Sensory Neuropathy with Optic Atrophy; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B;		X
313	Charcot-Marie-Tooth Disease Type 2A2; Neuropathy, Hereditary Motor and Sensory, Type 6A		X
314	Charcot-Marie-Tooth Disease Type 2D		X
315	Charcot-Marie-Tooth Disease Type 2D; Neuronopathy, Distal Hereditary Motor, Type 5A		X
316	Charcot-Marie-Tooth Disease Type 2J		X
317	Charcot-Marie-Tooth Disease Type 2J; Charcot-Marie-Tooth Disease Type 1B; Dejerine-Sottas Disease; Congenital Hypomyelinating Neuropathy		X
318	Charcot-Marie-Tooth Disease Type 2R		X
319	Charcot-Marie-Tooth Disease Type 4A		X
320	Charcot-Marie-Tooth Disease Type 4B1		X
321	Charcot-Marie-Tooth Disease Type 4B2		X
322	Charcot-Marie-Tooth Disease Type 4B2 with Early-Onset Glaucoma		X
323	Charcot-Marie-Tooth Disease Type 4H		X
324	Charcot-Marie-Tooth Disease Type 4j		X
325	Charcot-Marie-Tooth Disease Type 4J; Yunis-Varon Syndrome		X
326	Charcot-Marie-Tooth Disease X-Linked Dominant 6		X
327	Charcot-Marie-Tooth Disease X-Linked Recessive 4		X
328	Charcot-Marie-Tooth Disease, Demyelinating, IIA 1h		X
329	Charcot-Marie-Tooth Disease, Demyelinating, IIA 1I		X
330	Charcot-Marie-Tooth Disease, Type IA		X
331	Child Syndrome		X
332	Child Syndrome; CK Syndrome		X
333	Childhood Apraxia of Speech		X
334	Clopidogrel Response		X
335	Clopidogrel Response - Efficacy		X
336	Clopidogrel Response - Metabolism/PK		X
337	Cockayne Syndrome		X
338	Cockayne Syndrome Type I		X
339	Cockayne Syndrome Type 1; UV-Sensitive Syndrome 2		X
340	Cockayne Syndrome Type 2		X
341	Coenzyme Q10 Deficiency		X
342	Coenzyme Q10 Deficiency, Oculomotor Apraxia Type		X
343	Coenzyme Q10 Deficiency, Primary, I		X
344	Coenzyme Q10 Deficiency, Primary, I; Multiple System Atrophy		X
345	Coenzyme Q10 Deficiency, Primary, I; Multiple System Atrophy 1, Susceptibility to		X
346	Coenzyme Q10 Deficiency, Primary, III		X
347	Coenzyme Q10 Deficiency, Primary, IX		X
348	Coenzyme Q10 Deficiency, Spinocerebellar Ataxia Type		X
349	Coffin-Siris Syndrome 5		X
350	Coffin-Siris Syndrome 6		X
351	Coffin-Siris Syndrome 7		X
352	Colchicine Resistance		X
353	Colorectal Cancer, Hereditary Nonpolyposis, Type 6		X
354	Colorectal Cancer, Hereditary Nonpolyposis, Type 7		X
355	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome I		X
356	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome II		X
357	Combined Oxidative Phosphorylation Deficiency 51		X
358	Combined Oxidative Phosphorylation Deficiency 52		X
359	Combined Oxidative Phosphorylation Deficiency 53		X
360	Combined Oxidative Phosphorylation Deficiency 54		X
361	Combined Oxidative Phosphorylation Deficiency 55		X
362	Combined Oxidative Phosphorylation Deficiency 56		X
363	Combined Oxidative Phosphorylation Deficiency 57		X
364	Complement Component C1s Deficiency; Ehlers-Danlos Syndrome, Periodontal Type 2		X
365	Cowden Syndrome 6		X
366	Cowden Syndrome 7		X
367	Crigler-Najjar Syndrome		X
368	Crigler-Najjar Syndrome Type I		X
369	Crigler-Najjar Syndrome Type 1; Lucey-Driscoll Syndrome; Crigler-Najjar Syndrome, Type II; Gilbert Syndrome		X
370	Crigler-Najjar Syndrome, Type II		X
371	Dejerine-Sottas Disease; Charcot-Marie-Tooth Disease Type 4F		X
372	Dent Disease		X
373	Dent Disease Type I		X
374	Dent Disease Type 1; Hypophosphatemic Rickets, X-linked Recessive; X-linked Recessive Nephrolithiasis with Renal Failure; Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis		X
375	Developmental and Epileptic Encephalopathy, XXIII		X
376	Developmental and Epileptic Encephalopathy, 24		X
377	Developmental and Epileptic Encephalopathy, 24; Generalized Epilepsy with Febrile Seizures Plus, Type 10		X
378	Developmental and Epileptic Encephalopathy, 25		X
379	Developmental and Epileptic Encephalopathy, 26		X
380	Developmental and Epileptic Encephalopathy, 27		X
381	Developmental and Epileptic Encephalopathy, 28		X
382	Developmental and Epileptic Encephalopathy, 29		X
383	Diamond-Blackfan Anemia 12		X
384	Diamond-Blackfan Anemia 13		X
385	Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis		X
386	Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis		X
387	Diamond-Blackfan Anemia 16		X
388	Diamond-Blackfan Anemia 17		X
389	Diamond-Blackfan Anemia 18		X
390	Diamond-Blackfan Anemia 19		X
391	Diamond-Blackfan Anemia 20		X
392	Diamond-Blackfan Anemia 21		X
393	Diaphyseal Dysplasia; Cystic Fibrosis; Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy		X
394	Dilated Cardiomyopathy 1c		X
395	Dilated Cardiomyopathy 1c; Myofibrillar Myopathy 4		X
396	Dilated Cardiomyopathy 1cc		X
397	Dilated Cardiomyopathy 1cc; Hypertrophic Cardiomyopathy 20		X
398	Dilated Cardiomyopathy 1d		X
399	Dilated Cardiomyopathy 1DD		X
400	Duane Retraction Syndrome 2		X
401	Dubin-Johnson Syndrome		X
402	Dyskeratosis Congenita, Autosomal Recessive 6		X
403	Dyskeratosis Congenita, Autosomal Recessive 6; Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4		X
404	Dyskeratosis Congenita, Autosomal Recessive 7		X
405	Dyskeratosis Congenita, Autosomal Recessive 8		X
406	Dystonia 23		X
407	Dystonia 24		X
408	Dystonia 25		X
409	Dystonia 27		X
410	Dystonia 28, Childhood-Onset		X
411	Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta		X
412	Ehlers-Danlos Syndrome, Cardiac Valvular Type		X
413	Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta		X
414	Ehlers-Danlos Syndrome, Cardiac Valvular Type; Osteogenesis Imperfecta Type I; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2		X
415	Ehlers-Danlos Syndrome, Cardiac Valvular Type; Osteogenesis Imperfecta; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2		X
416	Ehlers-Danlos Syndrome, Classic Type, II		X
417	Ehlers-Danlos Syndrome, Classic Type, 2; Ehlers-Danlos Syndrome, Classic Type		X
418	Ehlers-Danlos Syndrome, Classic Type, 2; Ehlers-Danlos Syndrome, Classic Type, 1		X
419	Ehlers-Danlos Syndrome, Classic Type; Ehlers-Danlos Syndrome, Classic Type, I		X
420	Ehlers-Danlos Syndrome, Classic Type; Osteogenesis Imperfecta Type I		X
421	Ehlers-Danlos Syndrome, Classic-Like, II		X
422	Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type		X
423	Ehlers-Danlos Syndrome, Musculocontractural Type		X
424	Ehlers-Danlos Syndrome, Musculocontractural Type 2		X
425	Ehlers-Danlos Syndrome, Periodontal Type 2		X
426	Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type		X
427	Ehlers-Danlos Syndrome, Spondylodysplastic Type, II		X
428	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2; Spondyloepimetaphyseal Dysplasia with Joint Laxity		X
429	EIF2AK1-Related Condition		X
430	EIF2AK2-Related Condition		X
431	Eiken Syndrome		X
432	Epidermolysis Bullosa Simplex 1a, Generalized Severe		X
433	Epidermolysis Bullosa Simplex 1a, Generalized Severe; Dermatopathia Pigmentosa Reticularis; Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive; Epidermolysis Bullosa Simplex, Koebner Type; Epidermolysis Bullosa Simplex 1c, Localized; Naegeli-Franceschetti-Jadassohn Syndrome		X
434	Epidermolysis Bullosa Simplex 1A, Generalized Severe; Epidermolysis Bullosa Simplex, Koebner Type		X
435	Epidermolysis Bullosa Simplex 1c, Localized		X
436	Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy		X
437	Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy; Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q		X
438	Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q		X
439	Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q; Epidermolysis Bullosa Simplex with Nail Dystrophy		X
440	Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; Junctional Epidermolysis Bullosa with Pyloric Atresia; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q		X
441	Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; Junctional Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis Bullosa Simplex, Ogna Type; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q		X
442	Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy; Junctional Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia; Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q; Epidermolysis Bullosa Simplex with Nail Dystrophy		X
443	Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia		X
444	Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss		X
445	Epidermolysis Bullosa, Junctional 5A, Intermediate		X
446	Erythrokeratodermia Variabilis et Progressiva 1		X
447	Erythrokeratodermia Variabilis et Progressiva 2		X
448	Erythrokeratodermia Variabilis et Progressiva 3		X
449	Erythrokeratodermia Variabilis et Progressiva 4		X
450	Erythrokeratodermia Variabilis et Progressiva 5		X
451	Erythrokeratodermia Variabilis et Progressiva 6		X
452	Erythrokeratodermia Variabilis et Progressiva 7		X
453	Factor VII Marburg I variant thrombophilia		X
454	Factor VII Padua		X
455	Factor VII-activating protease Marburg I polymorphism		X
456	Factor VIII (East Hartford)		X
457	Factor VIII (Okayama)		X
458	Factor XI		X
459	Familial Hypercholesterolemia		X
460	Familial Type 3 Hyperlipoproteinemia; Familial Hypercholesterolemia; Hyperlipoproteinemia		X
461	Fanconi Anemia Complementation Group F		X
462	Fanconi Anemia Complementation Group G		X
463	Fanconi Anemia Complementation Group I		X
464	Fanconi Anemia Complementation Group R		X
465	Fanconi Anemia Complementation Group T		X
466	Fluorouracil Response		X
467	Fraser Syndrome 1		X
468	Fraser Syndrome 2		X
469	Fraser Syndrome 3		X
470	G6pd Anaheim		X
471	G6PD Beverly Hills		X
472	G6PD Iowa		X
473	G6PD Iowa City		X
474	G6PD Japan		X
475	G6PD Loma Linda		X
476	G6PD Minnesota		X
477	G6PD Nankang		X
478	G6PD Nashville		X
479	G6PD Riverside		X
480	G6PD Seattle-like		X
481	G6PD Springfield		X
482	G6PD Viangchan		X
483	G6PD Walter Reed		X
484	Galloway-Mowat Syndrome 3		X
485	Galloway-Mowat Syndrome 4		X
486	Geleophysic Dysplasia 1		X
487	Geleophysic Dysplasia II		X
488	Geleophysic Dysplasia 3		X
489	Glanzmann Thrombasthenia		X
490	Glanzmann Thrombasthenia I		X
491	Glanzmann Thrombasthenia 2		X
492	Glaucoma I, Open Angle, E		X
493	Glaucoma I, Open Angle, F		X
494	Glaucoma I, Open Angle, G		X
495	Global Developmental Delay; Seizure		X
496	Global Developmental Delay; Seizure; Absent Speech		X
497	Global Developmental Delay; Seizure; Atypical Behavior; Macrocephaly; Hand Tremor		X
498	Global Developmental Delay; Seizure; Autosomal Recessive Inheritance		X
499	Global Developmental Delay; Seizure; Cognitive Impairment		X
500	Global Developmental Delay; Seizure; Movement Disorder		X
501	Global Developmental Delay; Speech Apraxia		X
502	Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency		X
503	Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency		X
504	Glycogen Storage Disease IXa2		X
505	Glycogen Storage Disease IXc		X
506	Glycogen Storage Disease IXd		X
507	Glycogen Storage Disease Type II, Infantile		X
508	Glycogen Storage Disease, Type II		X
509	GM2-Gangliosidosis, Adult		X
510	GM2-Gangliosidosis, Adult-Onset		X
511	GM2-Gangliosidosis, Chronic		X
512	GM2-Gangliosidosis, Late Onset		X
513	Gracile Syndrome		X
514	Granulocytopenia with Immunoglobulin Abnormality		X
515	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative		X
516	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I		X
517	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type 2		X
518	Griscelli Syndrome		X
519	Griscelli Syndrome Type 1		X
520	Griscelli Syndrome Type 2		X
521	Griscelli Syndrome Type 3		X
522	Hawkinsinuria		X
523	Hawkinsinuria; Tyrosinemia Type III		X
524	Hearing Loss, Autosomal Dominant 75		X
525	Hearing Loss, Autosomal Dominant 76		X
526	Hearing Loss, Autosomal Dominant 77		X
527	Hearing Loss, Autosomal Dominant 78		X
528	Hearing Loss, Autosomal Dominant 79		X
529	Hearing Loss, Autosomal Dominant 80		X
530	Hearing Loss, Autosomal Dominant 81		X
531	Hearing Loss, Autosomal Dominant 82		X
532	Hearing Loss, Autosomal Dominant 83		X
533	Hearing Loss, Autosomal Dominant 84		X
534	Hearing Loss, Autosomal Dominant 85		X
535	Hearing Loss, Autosomal Dominant 88		X
536	Hearing Loss, Autosomal Dominant 89		X
537	Hearing Loss, Autosomal Recessive 110		X
538	Hearing Loss, Autosomal Recessive 111		X
539	Hearing Loss, Autosomal Recessive 112		X
540	Hearing Loss, Autosomal Recessive 113		X
541	Hearing Loss, Autosomal Recessive 114		X
542	Hearing Loss, Autosomal Recessive 115		X
543	Hearing Loss, Autosomal Recessive 116		X
544	Hearing Loss, Autosomal Recessive 117		X
545	Hemochromatosis Type III		X
546	Hemophilia B Brandenburg		X
547	Hemophilia B Leyden		X
548	Hemophilia B, Factor IX deficiency		X
549	Hemophilia B (M)		X
550	Hennekam Lymphangiectasia-Lymphedema Syndrome 1		X
551	Hennekam Lymphangiectasia-Lymphedema Syndrome 2		X
552	Hennekam Lymphangiectasia-Lymphedema Syndrome 3		X
553	Hepatitis B Virus, Resistance to		X
554	Hepatitis B Virus, Susceptibility to; Immunodeficiency 45		X
555	Hereditary Factor XI Deficiency Disease		X
556	Hereditary Spastic Paraplegia 12		X
557	Hereditary Spastic Paraplegia 13		X
558	Hereditary Spastic Paraplegia 15		X
559	Hereditary Spastic Paraplegia 17		X
560	Hereditary Spastic Paraplegia 18		X
561	Hereditary Spastic Paraplegia 2		X
562	Hereditary Spastic Paraplegia 30		X
563	Hereditary Spastic Paraplegia 30; Neuropathy, Hereditary Sensory, Type 2C		X
564	Hereditary Spastic Paraplegia 30; Neuropathy, Hereditary Sensory, Type 2C; Intellectual Disability, Autosomal Dominant 9		X
565	Hereditary Spastic Paraplegia 31; Neuronopathy, Distal Hereditary Motor, Type 5B		X
566	Hereditary Spastic Paraplegia 33		X
567	Hereditary Spastic Paraplegia 35		X
568	Hereditary Spastic Paraplegia 3A		X
569	Hermansky-Pudlak Syndrome 1		X
570	Holoprosencephaly 3		X
571	Holoprosencephaly 3; Microphthalmia, Isolated, with Coloboma 5; Solitary Median Maxillary Central Incisor Syndrome; Schizencephaly		X
572	Homozygous Familial Hypercholesterolemia		X
573	Hypercholesterolemia		X
574	Hypercholesterolemia, Autosomal Dominant, III		X
575	Hypercholesterolemia, Autosomal Dominant, Type B		X
576	Hypercholesterolemia, Autosomal Dominant, Type B; Familial Hypobetalipoproteinemia 1		X
577	Hypercholesterolemia, Autosomal Dominant, Type B; Muscle AMP Deaminase Deficiency		X
578	Hypercholesterolemia, Familial, I		X
579	Hypercholesterolemia, Familial, IV		X
580	Hypercholesterolemia, Susceptibility to		X
581	Hypogonadotropic Hypogonadism 11 with or without Anosmia		X
582	Hypogonadotropic Hypogonadism 12 with or without Anosmia		X
583	Hypogonadotropic Hypogonadism 13 with or without Anosmia		X
584	Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial		X
585	Hypomyelinating Leukodystrophy 4		X
586	Hypomyelinating Leukodystrophy 4; Hereditary Spastic Paraplegia 13		X
587	Hypotrichosis 3		X
588	Hypotrichosis IV		X
589	Hypotrichosis V		X
590	Hypotrichosis VI		X
591	Hypotrichosis 7		X
592	Hypotrichosis VIII		X
593	Ichthyosis Vulgaris		X
594	Immunodeficiency 35		X
595	Immunodeficiency 36		X
596	Immunodeficiency 37		X
597	Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta		X
598	Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta		X
599	Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Classic Type; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta Type I		X
600	Infantile Epilepsy		X
601	Infantile Epilepsy Syndrome		X
602	Infantile Epileptic Dyskinetic Encephalopathy		X
603	Infantile Nystagmus		X
604	Infantile Nystagmus with Foveal Hypoplasia		X
605	Infantile Onset Spinocerebellar Ataxia		X
606	Infantile Onset Spinocerebellar Ataxia; Perrault Syndrome V		X
607	Infantile Onset Spinocerebellar Ataxia; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3; Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; Perrault Syndrome 5		X
608	Infantile or Childhood Onset Neurodegenerative Disease, Global Developmental Delay, and Intellectual Disability		X
609	Infantile Osteopetrosis		X
610	Infantile Spasms		X
611	Infantile-Onset Ascending Hereditary Spastic Paralysis		X
612	Infantile-Onset Generalized Dyskinesia with Orofacial Involvement		X
613	Infantile-Onset Generalized Dyskinesia with Orofacial Involvement; Striatal Degeneration, Autosomal Dominant 2		X
614	Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome		X
615	Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome; Immunodeficiency 107, Susceptibility to Invasive Staphylococcus Aureus Infection		X
616	Intellectual Disability and Myopathy Syndrome		X
617	Intellectual Disability Syndrome Due to a DYRK1A Point Mutation		X
618	Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis		X
619	Intellectual Disability with Muscular Spasms		X
620	Intellectual Disability, Autosomal Dominant 40		X
621	Intellectual Disability, Autosomal Dominant 41		X
622	Intellectual Disability, Autosomal Dominant 42		X
623	Intellectual Disability, Autosomal Dominant 43		X
624	Intellectual Disability, Autosomal Recessive 42		X
625	Intellectual Disability, Autosomal Recessive 43		X
626	Intellectual Disability, Autosomal Recessive 44		X
627	Intellectual Disability, Autosomal Recessive 45		X
628	Intellectual Disability, Autosomal Recessive 46		X
629	Intellectual Disability, Autosomal Recessive 47		X
630	Intellectual Disability, X-Linked 93		X
631	Intellectual Disability, X-Linked 96		X
632	Intellectual Disability, X-Linked 97		X
633	Intellectual Disability, X-Linked 99		X
634	Intellectual Disability, X-linked 99, Syndromic, Female-restricted		X
635	Intellectual Disability, X-Linked 99; Intellectual Disability, X-Linked 101		X
636	Intellectual Disability, X-linked 99; Intellectual Disability, X-linked 99, Syndromic, Female-Restricted		X
637	Intellectual Disability, X-Linked Syndromic, Turner Type		X
638	Jervell and Lange-Nielsen Syndrome 2		X
639	Jervell and Lange-Nielsen Syndrome 2; Long QT Syndrome 5		X
640	Joubert Syndrome 5		X
641	Joubert Syndrome 5; Bardet-Biedl Syndrome 14		X
642	Joubert Syndrome 6		X
643	Junctional Epidermolysis Bullosa		X
644	KCNK18-Related Neurodevelopmental Disorder		X
645	KCNN2-Related Neurodevelopmental Movement Disorder		X
646	Laron-Type Isolated Somatotropin Defect; Short Stature Due to Partial GHR Deficiency; Hypercholesterolemia, Familial, I		X
647	Laron-Type Isolated Somatotropin Defect; Short Stature Due to Partial GHR Deficiency; Hypercholesterolemia, Familial, 1; Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency		X
648	Leber Congenital Amaurosis IV		X
649	Leber Congenital Amaurosis 5		X
650	Leber Congenital Amaurosis 6		X
651	Liddle Syndrome I		X
652	Liddle Syndrome II		X
653	Liddle Syndrome III		X
654	Lymphangioma		X
655	Lynch Syndrome 4		X
656	Lynch Syndrome 4; Mismatch Repair Cancer Syndrome 4		X
657	Maple Syrup Urine Disease Type 1B		X
658	Maple Syrup Urine Disease, Classic, Type IB		X
659	Maple Syrup Urine Disease, Thiamine-Responsive, Type II		X
660	Martsolf Syndrome		X
661	Martsolf Syndrome 1		X
662	Martsolf Syndrome 2		X
663	Maturity-Onset Diabetes of the Young Type X		X
664	Maturity-Onset Diabetes of the Young Type XI		X
665	Maturity-Onset Diabetes of the Young Type 7		X
666	Maturity-Onset Diabetes of the Young Type 8		X
667	Maturity-Onset Diabetes of the Young Type 9		X
668	Maturity-Onset Diabetes of the Young Type 9; Type 2 Diabetes Mellitus		X
669	Meckel Syndrome, Type 10		X
670	Meckel Syndrome, Type 11		X
671	Meckel Syndrome, Type 9		X
672	Mehmo Syndrome		X
673	Meier-Gorlin Syndrome 1		X
674	Meier-Gorlin Syndrome 1; 22q11.2 Deletion Syndrome		X
675	Meier-Gorlin Syndrome 2		X
676	Meier-Gorlin Syndrome 3		X
677	Meier-Gorlin Syndrome 4		X
678	Meier-Gorlin Syndrome 5		X
679	Meier-Gorlin Syndrome 6		X
680	Meier-Gorlin Syndrome 7		X
681	Meier-Gorlin Syndrome 8		X
682	Menke-Hennekam Syndrome		X
683	Menke-Hennekam Syndrome 1		X
684	Menke-Hennekam Syndrome 2		X
685	Mild Canavan Disease		X
686	Mitochondrial Complex I Deficiency, Nuclear Type 30		X
687	Mitochondrial Complex I Deficiency, Nuclear Type 31		X
688	Mitochondrial Complex I deficiency, nuclear type 32		X
689	Mitochondrial Complex I Deficiency, Nuclear Type 33		X
690	Mitochondrial Complex I Deficiency, Nuclear Type 34		X
691	Mitochondrial Complex I Deficiency, Nuclear Type 35		X
692	Mitochondrial Complex I Deficiency, Nuclear Type 36		X
693	Mitochondrial Complex I Deficiency, Nuclear Type 37		X
694	Mitochondrial Complex I Deficiency, Nuclear Type 1		X
695	Mitochondrial Complex I Deficiency, Nuclear Type 39		X
696	Mitochondrial Complex I Deficiency; Leigh Syndrome		X
697	Mucolipidosis		X
698	Mucolipidosis III Alpha/Beta, Atypical		X
699	Mucolipidosis Type II; Pseudo-Hurler Polydystrophy		X
700	Mucolipidosis Type IV		X
701	Mucolipidosis, Type III Alpha/beta		X
702	Nephrotic Syndrome, Type X		X
703	Nephrotic Syndrome, Type II		X
704	Nephrotic Syndrome, Type 11; Ovarian Dysgenesis 6; Galloway-Mowat Syndrome 7		X
705	Nephrotic Syndrome, Type XII		X
706	Nephrotic Syndrome, Type 13		X
707	Nephrotic Syndrome, Type XVII		X
708	Nephrotic Syndrome, Type XVIII		X
709	Nephrotic Syndrome, Type XIX		X
710	Nephrotic Syndrome, Type XX		X
711	Nephrotic Syndrome, Type XXI		X
712	Nephrotic Syndrome, Type XXII		X
713	Nephrotic Syndrome, Type XXIII		X
714	Nephrotic Syndrome, Type XXIV		X
715	Nephrotic Syndrome, Type 8		X
716	Nephrotic Syndrome, Type IX		X
717	Neurodevelopmental Disorder with Language Delay and Behavioral Abnormalities, with or without Seizures		X
718	Neurodevelopmental Disorder with Language Delay and Seizures		X
719	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities		X
720	Neurodevelopmental Disorder with Microcephaly and Dysmorphic Facies		X
721	Neuronal Ceroid Lipofuscinosis		X
722	Neuronal Ceroid Lipofuscinosis 1		X
723	Neuronal Ceroid Lipofuscinosis 10		X
724	Neuronal Ceroid Lipofuscinosis 11		X
725	Neuronal Ceroid Lipofuscinosis 13		X
726	Neuronal Ceroid Lipofuscinosis 2		X
727	Neuronal Ceroid Lipofuscinosis 3		X
728	Neuronal Ceroid Lipofuscinosis 5		X
729	Neuronal Ceroid Lipofuscinosis 7		X
730	Neuronal Ceroid Lipofuscinosis 7; Macular Dystrophy with Central Cone Involvement		X
731	Neuronal Ceroid Lipofuscinosis 8		X
732	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant		X
733	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant; Neuronal Ceroid Lipofuscinosis 8		X
734	Neuronal ceroid-lipofuscinosis, dominant/recessive		X
735	Neuronal ceroid-lipofuscinosis, recessive		X
736	Neuronopathy, Distal Hereditary Motor, Type 2A		X
737	Neuronopathy, Distal Hereditary Motor, Type 2B		X
738	Neuronopathy, Distal Hereditary Motor, Type 2C		X
739	Neuronopathy, Distal Hereditary Motor, Type 2D		X
740	Neuronopathy, Distal Hereditary Motor, Type 5C		X
741	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral		X
742	Niemann-Pick Disease, Type B		X
743	Niemann-Pick Disease, Type B; Niemann-Pick Disease, Type A		X
744	Noonan Syndrome 10		X
745	Noonan Syndrome 11		X
746	Noonan Syndrome 12		X
747	Noonan Syndrome 14		X
748	Oculocutaneous Albinism Type 3		X
749	Oculocutaneous Albinism Type 3; Skin/Hair/Eye Pigmentation, Variation in, 11		X
750	Oculocutaneous Albinism Type IV		X
751	Oocyte Maturation Defect 12		X
752	Oocyte Maturation Defect XIII		X
753	Oocyte Maturation Defect 14		X
754	Osteogenesis Imperfecta		X
755	Osteogenesis Imperfecta Type I, Mild		X
756	Osteogenesis Imperfecta Type 10		X
757	Osteogenesis Imperfecta Type 11		X
758	Osteogenesis Imperfecta Type 14		X
759	Osteogenesis Imperfecta Type 15		X
760	Osteogenesis Imperfecta Type 15; Osteoporosis, Early-Onset, Susceptibility to		X
761	Osteogenesis Imperfecta Type XVI		X
762	Osteogenesis Imperfecta Type 17		X
763	Osteogenesis Imperfecta Type 2, Thin-Bone		X
764	Osteogenesis Imperfecta Type V		X
765	Osteogenesis Imperfecta Type VI		X
766	Osteogenesis Imperfecta Type 7		X
767	Osteogenesis Imperfecta Type VIII		X
768	Osteogenesis Imperfecta Type 9		X
769	Osteogenesis Imperfecta Type I		X
770	Osteogenesis Imperfecta Type I; Ehlers-Danlos Syndrome, Classic Type, 1		X
771	Osteogenesis Imperfecta Type III		X
772	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form		X
773	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta Type III		X
774	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III		X
775	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2		X
776	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Osteoporosis; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2; Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2		X
777	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta Type I; Osteoporosis; Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1		X
778	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Osteogenesis Imperfecta Type I		X
779	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Osteoporosis; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2; Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2		X
780	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Postmenopausal Osteoporosis; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasia Type, 2		X
781	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Postmenopausal Osteoporosis; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasis Type		X
782	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Postmenopausal Osteoporosis; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta Type I		X
783	Osteogenesis Imperfecta with Normal Sclerae, Dominant Form; Postmenopausal Osteoporosis; Osteogenesis Imperfecta, Recessive Perinatal Lethal; Osteogenesis Imperfecta Type III; Infantile Cortical Hyperostosis; Ehlers-Danlos Syndrome, Arthrochalasis Type; Osteogenesis Imperfecta Type I; Ehlers-Danlos Syndrome, Classic Type, 1		X
784	Osteogenesis Imperfecta, Atypical, with Joint Hypermobility		X
785	Osteogenesis imperfecta, dominant		X
786	Osteogenesis Imperfecta, IIA 22		X
787	Osteogenesis Imperfecta, Mild		X
788	Osteogenesis Imperfecta, Recessive		X
789	Osteogenesis Imperfecta, Recessive Perinatal Lethal		X
790	Osteogenesis Imperfecta, Recessive Perinatal Lethal; Ehlers-Danlos Syndrome, Cardiac Valvular Type; Ehlers-Danlos Syndrome, Arthrochalasis Type		X
791	Osteogenesis Imperfecta, Type 18		X
792	Osteogenesis Imperfecta, Type 19		X
793	Osteogenesis Imperfecta, Type 20		X
794	Osteogenesis Imperfecta, Type 21		X
795	Osteogenesis Imperfecta, Type IIC		X
796	Osteogenesis Imperfecta, Type III/IV		X
797	Peroxisome Biogenesis Disorder 5A (Zellweger)		X
798	Peroxisome Biogenesis Disorder 5A (Zellweger); Peroxisome Biogenesis Disorder 5B		X
799	Peroxisome Biogenesis Disorder 5b		X
800	Peroxisome Biogenesis Disorder 6a (Zellweger)		X
801	Peroxisome Biogenesis Disorder 6a (Zellweger); Peroxisome Biogenesis Disorder 6b		X
802	Peroxisome Biogenesis Disorder 6b		X
803	Perrault Syndrome		X
804	Perrault Syndrome 1		X
805	Perrault Syndrome 2		X
806	Perrault Syndrome III		X
807	Perrault Syndrome 4		X
808	Perrault Syndrome 4; Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome		X
809	Perrault Syndrome 5		X
810	Perrault Syndrome 6		X
811	Pili Torti-Deafness Syndrome; GRACILE Syndrome; Leigh Syndrome; Mitochondrial Complex III Deficiency Nuclear Type 1		X
812	Pili Torti-Deafness Syndrome; GRACILE Syndrome; Mitochondrial Complex III Deficiency Nuclear Type 1		X
813	Platelet-Type Bleeding Disorder 17		X
814	Platelet-Type Bleeding Disorder 18		X
815	Platelet-Type Bleeding Disorder XIX		X
816	Platelet-Type Bleeding Disorder 20		X
817	Polymicrogyria with or without Vascular-type Ehlers-Danlos Syndrome		X
818	Polymicrogyria without Vascular-type Ehlers-Danlos Syndrome		X
819	Pontocerebellar Hypoplasia, Type 1c		X
820	Pontocerebellar Hypoplasia, Type 1D		X
821	Pontocerebellar Hypoplasia, Type 1e		X
822	Pontocerebellar Hypoplasia, Type 1F		X
823	Primary Ciliary Dyskinesia 20		X
824	Primary Ciliary Dyskinesia 21		X
825	Primary Ciliary Dyskinesia 22		X
826	Primary Ciliary Dyskinesia 23		X
827	Primary Ciliary Dyskinesia 24		X
828	Primary Ciliary Dyskinesia 25		X
829	Primary Ciliary Dyskinesia 26		X
830	Primary Ciliary Dyskinesia 27		X
831	Primary Ciliary Dyskinesia 28		X
832	Primary Ciliary Dyskinesia 29		X
833	Primary Ciliary Dyskinesia 30		X
834	Primrose Syndrome		X
835	Pseudomonas aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis		X
836	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, III		X
837	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, IV		X
838	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, V		X
839	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, VI		X
840	Retinitis Pigmentosa 20; Leber Congenital Amaurosis; RPE65-Related Disorders		X
841	Retinitis Pigmentosa 25		X
842	Retinitis Pigmentosa 26		X
843	Retinitis Pigmentosa 27		X
844	Retinitis Pigmentosa 28		X
845	Retinitis Pigmentosa 31		X
846	Retinitis Pigmentosa 35		X
847	Retinitis Pigmentosa 36		X
848	Retinitis Pigmentosa 37		X
849	Retinitis Pigmentosa 38		X
850	Retinitis Pigmentosa 39		X
851	Retinitis Pigmentosa 40		X
852	Retinitis Pigmentosa 41		X
853	Risk of Requirement of Invasive Mechanical Ventilation in Patients with Severe COVID-19		X
854	Robinow Syndrome, Autosomal Recessive 2		X
855	Robinow Syndrome, Autosomal Recessive, with Aplasia/Hypoplasia of Phalanges and Metacarpals/Metatarsals		X
856	Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly		X
857	Robinow-Sorauf Syndrome		X
858	Rothmund-Thomson Syndrome		X
859	Rothmund-Thomson Syndrome Type I		X
860	Rothmund-Thomson Syndrome Type II		X
861	Sandhoff Disease		X
862	Sandhoff Disease, Adult Form		X
863	Sandhoff Disease, Chronic		X
864	Sandhoff Disease, Infantile Form		X
865	Sandhoff Disease, Juvenile Form		X
866	Schinzel-Giedion Syndrome		X
867	Schinzel-Giedion Syndrome; Intellectual Disability, Autosomal Dominant 29		X
868	Senior-Loken Syndrome 1		X
869	Senior-Loken Syndrome 4		X
870	Senior-Loken Syndrome 6		X
871	Senior-Loken Syndrome 6; Joubert Syndrome 5		X
872	Senior-Loken Syndrome 7		X
873	Senior-Loken Syndrome 7; Bardet-Biedl Syndrome 16		X
874	Senior-Loken Syndrome 8		X
875	Senior-Loken Syndrome 9		X
876	Severe Combined Immunodeficiency Disease; Immunodeficiency; Lymphopenia; Abnormal Cellular Immune System Morphology; Abnormality of T Cell Physiology; Combined Immunodeficiency		X
877	Severe Combined Immunodeficiency due to CARD11 Deficiency; BENTA Disease		X
878	Severe Combined Immunodeficiency due to CARD11 Deficiency; BENTA Disease; Immunodeficiency 11b with Atopic Dermatitis		X
879	Severe Combined Immunodeficiency due to CARMIL2 Deficiency		X
880	Severe Combined Immunodeficiency due to CD70 Deficiency		X
881	Severe Combined Immunodeficiency due to Coro1a Deficiency		X
882	Severe Combined Immunodeficiency due to CTPS1 Deficiency		X
883	Severe Combined Immunodeficiency due to DCLRE1C Deficiency		X
884	Severe Combined Immunodeficiency due to DCLRE1C Deficiency; Histiocytic Medullary Reticulosis		X
885	Severe Combined Immunodeficiency due to DNA-PKcs Deficiency		X
886	Severe Combined Immunodeficiency due to IKK2 Deficiency		X
887	Severe Combined Immunodeficiency due to IKK2 Deficiency; Immunodeficiency 15A		X
888	Severe Combined Immunodeficiency due to LAT Deficiency		X
889	Severe Combined Immunodeficiency Due to LCK Deficiency		X
890	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation due to NHEJ1 Deficiency		X
891	Severe Combined Immunodeficiency, Athabascan-type		X
892	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Negative, Due to Adenosine Deaminase Deficiency		X
893	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive		X
894	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive; Recombinase Activating Gene 2 Deficiency; Inborn Error of Immunity		X
895	Severe Combined Immunodeficiency, B Cell-Negative		X
896	Severe Combined Immunodeficiency, Partial		X
897	Short QT Syndrome		X
898	Short QT Syndrome 4		X
899	Short QT syndrome 5		X
900	Short QT Syndrome 7		X
901	Short QT Syndrome Type 1		X
902	Short QT Syndrome Type 1; Long QT Syndrome 2		X
903	Short QT Syndrome Type 2		X
904	Short QT Syndrome Type 3		X
905	Sialidosis Type II		X
906	Sialidosis Type 2; Non-Immune Hydrops Fetalis		X
907	Sickle Cell Disease and Related Diseases		X
908	Sickle Cell-Hemoglobin C Disease		X
909	Sickle Cell-Hemoglobin O Arab Disease		X
910	Sifrim-Hitz-Weiss Syndrome		X
911	Silver-Russell Syndrome 1		X
912	Silver-Russell Syndrome 3		X
913	Silver-Russell Syndrome 4		X
914	Silver-Russell Syndrome 5		X
915	Sjögren-Larsson Syndrome		X
916	Skin/Hair/Eye Pigmentation, Variation in, 10		X
917	Skin/Hair/Eye Pigmentation, Variation in, 11		X
918	Smith-Lemli-Opitz Syndrome		X
919	Spastic Paraplegia 81, Autosomal Recessive		X
920	Spastic Paraplegia 82, Autosomal Recessive		X
921	Spastic Paraplegia 83, Autosomal Recessive		X
922	Spastic Paraplegia 84, Autosomal Recessive		X
923	Spinocerebellar Ataxia Type 26		X
924	Spinocerebellar Ataxia Type 27		X
925	Spinocerebellar Ataxia Type 28		X
926	Spinocerebellar Ataxia Type 28; Spastic Ataxia 5		X
927	Spinocerebellar Ataxia Type 28; Spastic Ataxia 5; Optic Atrophy 12		X
928	Spinocerebellar Ataxia Type 29		X
929	Spinocerebellar Ataxia Type 29; Gillespie Syndrome		X
930	Spinocerebellar Ataxia Type 29; Spinocerebellar Ataxia Type 15/16; Gillespie Syndrome		X
931	Spinocerebellar Ataxia, Autosomal Recessive 24		X
932	Spinocerebellar Ataxia, Autosomal Recessive 25		X
933	Spinocerebellar Ataxia, Autosomal Recessive 26		X
934	Spinocerebellar Ataxia, Autosomal Recessive 27		X
935	Spinocerebellar Ataxia, Autosomal Recessive 28		X
936	Spinocerebellar Ataxia, Autosomal Recessive 29		X
937	Spinocerebellar Ataxia, Autosomal Recessive 30		X
938	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures; Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2		X
939	Stickler Syndrome		X
940	Stickler Syndrome Type I		X
941	Stickler Syndrome Type 2		X
942	Stickler syndrome, dominant		X
943	Stickler Syndrome, IIA 6		X
944	Stickler syndrome, recessive		X
945	Stickler Syndrome, Type IV		X
946	Stickler Syndrome, Type V		X
947	Stickler Syndrome, Type I, Nonsyndromic Ocular		X
948	Systemic Lupus Erythematosus, Association with Susceptibility to, 10		X
949	Systemic Lupus Erythematosus, Susceptibility to, X		X
950	Systemic Lupus Erythematosus, Susceptibility to, 11		X
951	Systemic Lupus Erythematosus, Susceptibility to, IX		X
952	Systemic Lupus Erythematosus, Susceptibility to, 9; Immunodeficiency, Common Variable, 2; Immunodeficiency, Common Variable, 7		X
953	Systemic Lupus Erythematosus, Susceptibility to, 9; Common Variable Immunodeficiency, 7		X
954	Tangier Disease		X
955	Tangier Disease, Variant		X
956	Thrombocytopenia III		X
957	Thrombocytopenia IV		X
958	TNXB-Related Hypermobile Ehlers-Danlos Syndrome		X
959	Townes-Brocks Syndrome 1		X
960	Townes-Brocks Syndrome 2		X
961	Treacher Collins Syndrome		X
962	Treacher Collins Syndrome 1		X
963	Treacher Collins Syndrome 2		X
964	Treacher Collins Syndrome 3; Hypomyelinating Leukodystrophy 11		X
965	Treacher Collins syndrome, dominant		X
966	Treacher Collins syndrome, recessive		X
967	Trichothiodystrophy 2, Photosensitive		X
968	Type 1 Diabetes Mellitus 10		X
969	Type 1 Diabetes Mellitus 10; Immunodeficiency due to CD25 Deficiency		X
970	Type 1 Diabetes Mellitus 12, Susceptibility to		X
971	Type 1 Diabetes Mellitus 17		X
972	Tyrosinemia		X
973	Tyrosinemia Type I		X
974	Tyrosinemia Type III		X
975	Uncombable Hair Syndrome I		X
976	Uncombable Hair Syndrome II		X
977	Uncombable Hair Syndrome 3		X
978	Usher Syndrome Type 1d		X
979	Usher Syndrome Type 1D; Autosomal Recessive Nonsyndromic Hearing Loss 84A		X
980	Usher Syndrome Type 1D; Prelingual Sensorineural Hearing Impairment		X
981	Usher Syndrome Type 2		X
982	Usher Syndrome Type 2A		X
983	Usher Syndrome Type 3A		X
984	Usher Syndrome Type 3B		X
985	VEXAS		X
986	VEXAS Syndrome		X
987	Von Willebrand Disease Type 2N		X
988	Waardenburg Syndrome Type 2E		X
989	Waardenburg Syndrome Type 2E, with Neurologic Involvement		X
990	Waardenburg Syndrome Type 2E, Without Neurologic Involvement		X
991	Weaver Syndrome		X
992	Wolfram Syndrome		X
993	Wolfram Syndrome 1		X
994	Wolfram Syndrome 1; Autosomal Dominant Nonsyndromic Hearing Loss 6; Wolfram-Like Syndrome		X
995	Wolfram Syndrome 1; Rare Genetic Deafness		X
996	Wolfram Syndrome 1; Type 2 Diabetes Mellitus		X
997	Wolfram Syndrome 1; Wolfram-Like Syndrome		X
998	Wolfram Syndrome 2		X
999	Wolfram-Like Disorder		X
1000	Wolfram-Like Syndrome		X
1001	X-linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome		X
1002	X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome		X
1003	Xeroderma Pigmentosum, Group E		X
1004	Zimmermann-Laband Syndrome 1		X
1005	Zimmermann-Laband Syndrome 1; Temple-Baraitser Syndrome		X
1006	Zimmermann-Laband Syndrome 2		X
1007	Zimmermann-Laband Syndrome 3		X
1008	ZSWIM6 Related Intellectual Disability		X

The above list provides the conditions analyzed in the Free and Plus versions. Click here to view the searchable list of 15,000+ conditions included in the Premium and Professional versions.

This app's genetic analysis and associated statements have not been evaluated by the U.S. Food and Drug Administration. It is not intended to diagnose, monitor, treat, cure, prevent, or alleviate any disease.

This app, its results, and the information it provides neither determine the appropriateness of a medication nor provide medical diagnoses or advice. Do not use these results to make health decisions. Always consult with your physician or a qualified health provider about any medical concerns or medications. Do not ignore professional medical advice or delay seeking it based on this app's results or information. Discuss these results with your health care provider before making any medical decisions. They might recommend further genetic testing or analysis.