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Gene: Nfya MGI:97316

Gene Summary

Name:

nuclear transcription factor-Y alpha

Synonyms:

Sez10, Cbf-b

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	2.07×10^-05
thrombocytosis	Nfya^Nfya	HET	Early adult	1.12×10^-05
increased circulating fructosamine level	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.68×10^-05
abnormal startle reflex	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.03×10^-08
increased leukocyte cell number	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	2.80×10^-05
increased circulating creatinine level	Nfya^Nfya	HET	Early adult	8.49×10^-08
abnormal eye morphology	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.23×10^-05
decreased body weight	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.94×10^-07
abnormal retina pigmentation	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.63×10^-05
decreased body length	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	8.71×10^-15
increased circulating calcium level	Nfya^Nfya	HET	Early adult	7.26×10^-08
decreased circulating serum albumin level	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	9.91×10^-05
increased IgG1 level	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	2.05×10^-07
increased bone mineral density	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.41×10^-05
abnormal head morphology	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	5.20×10^-17

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Nfya^{Gt(EUCJ0004f10)Hmgu}
body, WT, Female, WTSI

Nfya^{Gt(EUCJ0004f10)Hmgu}
head, WT, Female, WTSI

Nfya^{Gt(EUCJ0004f10)Hmgu}
body, WT, Female, WTSI

View all 91 images

Nfya^{Gt(EUCJ0004f10)Hmgu}
abnormal retinal pigmentation, HET, Male, WTSI

Nfya^{Gt(EUCJ0004f10)Hmgu}
back skin, WT, Female, WTSI

Nfya^{Gt(EUCJ0004f10)Hmgu}
back skin, HET, Female, WTSI

Nfya^{Gt(EUCJ0004f10)Hmgu}
tail skin, WT, Female, WTSI

Human diseases caused by Nfya mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nfya (0 diseases)
Human diseases predicted to be associated with Nfya (1021 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nfya by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Adamantinoma	Hypercalcemia	ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Salmonella osteomye...	OMIM:209950
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react...	OMIM:604416
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Liberfarb Syndrome	Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Bone ...	OMIM:618889
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Failure to thrive, Increased bone mineral density	OMIM:615198
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl...	OMIM:226990
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Obesity	ORPHA:88643
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to...	OMIM:613752
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Rhabdoid Tumor	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Rod-cone dystrophy, Osteoporosis, In...	OMIM:136300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Osteopenia, Failure to thrive, Increased circulating IgE level, ...	ORPHA:98813
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	ORPHA:169154
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat...	ORPHA:90362
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E...	OMIM:614034
Hypophosphatasia	Anemia, Hypercalcemia	ORPHA:436
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Retinal degeneration, Decreased LDL cholesterol concentration...	ORPHA:79320
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat...	ORPHA:37748
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Decreased circulating complement C3 concentration, Drusen	ORPHA:54370
Sclerosteosis	Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone miner...	ORPHA:3152
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia	OMIM:617056
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Splenomegaly, Hypocalcemia	ORPHA:172
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of...	ORPHA:158061
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen	OMIM:617872
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling, Generalized dystonia	OMIM:619389
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Papillede...	OMIM:620366
Van Buchem Disease	Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine...	OMIM:239100
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Intention tremor, Neutropenia	OMIM:266130
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Melorheostosis	Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti...	ORPHA:2485
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa...	OMIM:618048
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Increased bone mineral density, Splenomegaly, Reticulocytosis, Osteopetrosis, Thro...	OMIM:611490
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Hypocalcemia	ORPHA:100025
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Small for gestational age, Central heterochromia, Retinal degeneration	OMIM:275400
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn...	ORPHA:210110
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio...	OMIM:267700
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD...	OMIM:607271
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Papill...	OMIM:122860
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive...	ORPHA:2070
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Small for gestational age, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia,...	OMIM:259700
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio...	OMIM:603553
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phytanic acid...	OMIM:614307
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Juvenile Paget Disease	Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Melanocytic nevus, Abn...	ORPHA:2801
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia	OMIM:226300
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality...	ORPHA:540
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Cofs Syndrome	Optic atrophy, Camptodactyly of finger, Joint stiffness, Abnormality of retinal pigmentation, Art...	ORPHA:1466
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Limited hip movement, Limitation of movement at ankles, Leukocytosis, Trem...	ORPHA:206594
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Hypercholesterole...	ORPHA:86816
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia, O...	ORPHA:100024
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Reduced circ...	OMIM:618944
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Senior-Loken Syndrome	Abnormality of bone mineral density, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ...	OMIM:616267
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia...	OMIM:208920
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hypertriglyceridemia	OMIM:619013
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration...	ORPHA:64753
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Camptodactyly,...	OMIM:608104
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Retinopathy, Hy...	OMIM:239000
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Peroxisomal Acyl-Coa Oxidase Deficiency	Dystonia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega...	ORPHA:77297
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to...	OMIM:618987
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva...	ORPHA:247353
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Osteopenia, Failure to thrive, Hypocholesterole...	OMIM:212065
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Pigmentary retinopathy, Failure to thrive	OMIM:618234
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration, Tremor	OMIM:164500
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Hypophosphatasia, Infantile	Anemia, Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Ramon Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Osteolysis	ORPHA:3019
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Chorioretinal hypopigmentation, Leuk...	OMIM:617303
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen	ORPHA:251004
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration, Thrombocytosis, A...	OMIM:615934
Albers-Schönberg Osteopetrosis	Optic atrophy, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morpholo...	ORPHA:53
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Sjögren-Larsson Syndrome	Macular degeneration, Joint stiffness, Generalized hyperpigmentation, Abnormality of retinal pigm...	ORPHA:816
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis	ORPHA:134
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Increased ...	OMIM:618495
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Abnormal circulating IgM level, Hypocholesterolemia, Complete...	ORPHA:79324
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Macular degeneration, Increased circulat...	ORPHA:48818
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia	ORPHA:163693
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Congenital Toxoplasmosis	Failure to thrive in infancy, Anemia, Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:858
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility	ORPHA:79327
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Hyperthreoninemia, Optic disc druse...	OMIM:204000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ...	ORPHA:1390
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Failure to thrive in infancy, Reduced delayed hypersensitivity, ...	OMIM:617241
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Optic atrophy, Failure to thrive, Hepatosplenomegaly, Chorioretinal atrophy, Wei...	OMIM:619487
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab...	ORPHA:2298
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Osteopetrosis, Autosomal Dominant 2	Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ...	OMIM:166600
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	OMIM:619473
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Increased circulating IgE level, Failure to thrive in infancy, O...	ORPHA:37042
Oculoskeletodental Syndrome	Hypercalcemia, Splenomegaly, Hypocalcemia	OMIM:618440
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Splenomegaly	OMIM:608776
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Iron de...	ORPHA:1667
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcemia	ORPHA:199299
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Generalized dystonia, Increased susceptibility to fractures, Opisthotonus...	ORPHA:216866
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me...	OMIM:616943
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure t...	ORPHA:443811
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circul...	OMIM:617388
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin...	OMIM:242150
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Interstitial Lung And Liver Disease	Anemia, Hyperammonemia, Aminoaciduria, Thrombocytosis	OMIM:615486
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypopigmentation of the fund...	ORPHA:14
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Multiple joint contractures, Elevated circulating creatine kinase concent...	ORPHA:370968
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Oste...	OMIM:259710
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hy...	OMIM:620210
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Failure to thrive, Increased circulating ferritin con...	OMIM:600462
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Mpi-Cdg	Hypoalbuminemia, Failure to thrive	ORPHA:79319
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Decreased body weight, Osteopetrosis, Generalized hypopigmentation, Iris transillumination defect...	OMIM:617306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Optic atrophy, Joi...	ORPHA:505248
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent...	ORPHA:88618
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Periostosis	OMIM:614441
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density with cystic ch...	ORPHA:94089
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, Hypertriglyceridemia	OMIM:617575
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Co...	OMIM:617093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Flexion contracture, Hepatosplenomegaly, Failure to thrive	ORPHA:367
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia	OMIM:613070
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Optic atrophy, Pigmentary retinopathy, Flexion contracture	OMIM:252011
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Joint hypermobility, Eo...	OMIM:615816
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilir...	OMIM:259720
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Hypopigmentation of the fundus, Delayed patellar ossification, Retinal detachment, Abnormal bone ...	ORPHA:163649
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of...	OMIM:613464
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Failure to thrive, Cutaneous abscess, Increased circulating Ig...	OMIM:243700
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Retinal vas...	OMIM:618969
Vici Syndrome	Decreased circulating IgG level, Optic atrophy, Hypopigmentation of the skin, Abnormal macular mo...	ORPHA:1493
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Decreased lymphocyte proliferation in response to mitogen, Reduced natural kille...	OMIM:619381
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro...	OMIM:222470
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp...	OMIM:127000
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Leigh Syndrome, Nuclear	Dystonia, Optic atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:256000
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin...	ORPHA:95409
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Hypopigmentation of the skin, Failure to thrive, Decreased circulating antibody ...	ORPHA:79396
Gaucher Disease	Cherry red spot of the macula, Pancytopenia, Increased circulating antibody level, Polyclonal ele...	ORPHA:355
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Hand tremor, Retinal flecks	ORPHA:100996
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Joint hypermobility, Decreased body weight, Limitation of knee mo...	OMIM:614856
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating...	ORPHA:85443
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Limited wrist extension, Distal arthrogryposis, Congenital f...	OMIM:108145
Bardet-Biedl Syndrome 3	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Rickets, Failure to thrive, Mottled pigmentation of photoexposed areas, O...	OMIM:560000
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Osteomyelitis, Hypocalcemia, Absc...	ORPHA:36234
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Attenuation of retinal bloo...	OMIM:609033
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Joint hypermobility	OMIM:617121
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal...	ORPHA:93284
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Osteopenia, Fractures of the long bones, Bull's eye maculo...	ORPHA:157850
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Failure to thrive	OMIM:602579
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Failure to thrive, Craniofacial dystonia, L...	OMIM:617282
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Laurence-Moon Syndrome	Chorioretinal atrophy, Obesity, Pigmentary retinopathy	OMIM:245800
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnor...	ORPHA:5
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Failure to thrive, Hyperalaninemia, Chorioretinal hyperpigmentation	OMIM:618329
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Failure to thrive, Lack of T cell function, Increased circulatin...	ORPHA:277
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:613156
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Increased circulating Ig...	ORPHA:186
Camurati-Engelmann Disease	Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Optic nerve compression, Ane...	OMIM:131300
Poems Syndrome	Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega...	ORPHA:2905
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis	ORPHA:729
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Xfe Progeroid Syndrome	Hypoalbuminemia, Optic atrophy, Failure to thrive, Attenuation of retinal blood vessels, Cachexia	OMIM:610965
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic...	OMIM:254900
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma...	ORPHA:90650
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Cohen Syndrome	Optic atrophy, Leukopenia, Bull's eye maculopathy, Joint hypermobility, Chorioretinal dystrophy, ...	OMIM:216550
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hand tremor, Osteomalacia, Hemolytic anemia, Hyperbilirubinemia, L...	OMIM:277900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ...	OMIM:251880
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Canavan Disease	Optic atrophy, Flexion contracture, Abnormality of retinal pigmentation	ORPHA:141
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Optic atrophy, Decreased ci...	OMIM:612301
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Hypocalcemi...	OMIM:613658
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Elevated c...	OMIM:615688
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Hypopigmentatio...	ORPHA:167
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Desmoid Tumor	Limitation of joint mobility, Abnormality of retinal pigmentation, Osteolysis	ORPHA:873
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia	ORPHA:47
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c...	OMIM:308230
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Elevated circulating C-rea...	ORPHA:1304
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Addison Disease	Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperka...	ORPHA:85138
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Optic atrophy, Joint contracture of the hand, Hypopigmentation of the skin, Camp...	OMIM:251300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Complete or ...	OMIM:301081
Bardet-Biedl Syndrome 9	Obesity, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of...	OMIM:615986
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Dysosteosclerosis	Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mi...	ORPHA:1782
Angiostrongyliasis	Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating...	ORPHA:74
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia	OMIM:612840
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hyperalaninemia, Hyperglycinemia	OMIM:619059
Congenital Rubella Syndrome	Anemia, Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:290
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Werner Syndrome	Premature graying of hair, Slender build, Joint stiffness, White forelock, Abnormality of retinal...	ORPHA:902
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat...	OMIM:617547
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Ataxia With Vitamin E Deficiency	Dystonia, Abnormality of retinal pigmentation, Tremor	ORPHA:96
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Pheochromocytoma	Hypercalcemia	OMIM:171300
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:169160
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Obesity, Rod-cone dystrophy, Osteoporosis, Reduced bone mineral density, ...	ORPHA:2235
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta...	ORPHA:84064
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina...	OMIM:619055
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Hypotonia-Cystinuria Syndrome	Cystinuria, Hypocalcemia	OMIM:606407
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Joint hypermobili...	ORPHA:2715
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Osteomyelitis, Flexion contracture of finger, Bone sp...	ORPHA:88628
Autoimmune Hepatitis	Increased total bilirubin, Vitiligo, Splenomegaly, Increased circulating antibody level, Arthriti...	ORPHA:2137
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
12Q14 Microdeletion Syndrome	Failure to thrive, Abnormality of the spleen, Tremor, Hyperpigmentation of the skin, Osteopoikilosis	ORPHA:94063
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ...	OMIM:618183
Trichothiodystrophy	Osteopenia, Macular degeneration, Increased mean corpuscular hemoglobin concentration, Panhypogam...	ORPHA:33364
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss, Knee flexion contracture	ORPHA:3208
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr...	OMIM:615758
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia	OMIM:174900
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Failure to thrive, Hype...	OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acan...	ORPHA:96180
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Activated Pi3K-Delta Syndrome	Failure to thrive, Decreased circulating antibody level, Splenomegaly, Arthritis, B lymphocytopen...	ORPHA:397596
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Retinitis Pigmentosa	Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation...	ORPHA:791
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Hypotriglyceridemia, Tarsal sclerosis, Failure to thrive, ...	ORPHA:404454
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Joint contracture of the hand, Failure to thrive, Optic nerve dysplasia, ...	OMIM:214110
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Camptodactyly, Failure to thrive	OMIM:617729
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Hepatosplenomegaly, Splenomegaly, Weight loss, Polyclonal elevation ...	ORPHA:171
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Pycnodysostosis	Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm...	ORPHA:763
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Tremor, Megaloblastic anemia, Thromb...	OMIM:222300
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Camptodactyly	OMIM:235510
Mulibrey Nanism	Thickened cortex of long bones, Pigmentary retinopathy	OMIM:253250
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero...	OMIM:618885
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas...	OMIM:617099
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Dystonia, Retinal pigment epithelial mottling, Methylmalonic acidemia	OMIM:614105
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Tick-Borne Encephalitis	Stiff neck, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Tremor, Thromb...	ORPHA:297
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con...	OMIM:617156
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria	OMIM:264700
Bardet-Biedl Syndrome 6	Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc p...	OMIM:268315
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Vitiligo, Ju...	ORPHA:275
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia...	OMIM:275350
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Pigme...	ORPHA:71212
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Vitiligo, Pa...	OMIM:614700
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Reduce...	ORPHA:79443
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response	OMIM:609541
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Leukocytosis, Splenomegaly, Hypocalcemia, Hypophos...	ORPHA:289157
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	ORPHA:79095
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulati...	ORPHA:2902
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia	ORPHA:97282
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Bardet-Biedl Syndrome 17	Obesity, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, ...	OMIM:615994
Gaucher Disease Type 1	Elevated circulating CCL18 level, Osteopenia, Splenic infarction, Increased circulating ferritin ...	ORPHA:77259
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hypopigmentation of hair, Cafe-au-lait...	OMIM:618541
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr...	OMIM:112250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Cartilage-Hair Hypoplasia	Failure to thrive, Limited elbow extension, Abnormality of retinal pigmentation, Hypocalcemia, Jo...	ORPHA:175
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Cohen Syndrome	Optic atrophy, Failure to thrive in infancy, Obesity, Abnormality of retinal pigmentation, Joint ...	ORPHA:193
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody...	ORPHA:77261
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Retinal crystals, Pathologic fracture, Hyperoxaluria...	OMIM:259900
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Failure to thrive, Splenomegaly	ORPHA:35107
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Dysosteosclerosis	Optic atrophy, Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil...	OMIM:224300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Lowry-Wood Syndrome	Elbow flexion contracture, Pigmentary retinopathy, Limited elbow extension, Small for gestational...	OMIM:226960
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Abnormality of retinal pigmentation	ORPHA:1496
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Osteoporosis, Eosinophilia	OMIM:620532
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Rickets, Retinal pigment epithelial mottling	OMIM:219900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Athetosis, Elevated circulating phytani...	OMIM:614866
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetr...	OMIM:618476
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Failure to thrive, Increased circulating inter...	OMIM:256040
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Tremor, Generalized joint hypermobility, Optic disc pallor, Mildly elevat...	ORPHA:502423
Timothy Syndrome	Hypocalcemia	OMIM:601005
Rift Valley Fever	Macular edema, Retinal vasculitis, Retinitis, Anemia, Thrombocytopenia, Retinal hemorrhage, Incre...	ORPHA:319251
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosi...	OMIM:304790
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Hypoca...	ORPHA:79444
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Glucagonoma	Hypercalcemia, Acanthocytosis, Normochromic anemia	ORPHA:97280
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Tremor, Increas...	ORPHA:90321
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Prolidase Deficiency	Splenomegaly, Reduced bone mineral density, White forelock, Abnormality of retinal pigmentation	ORPHA:742
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop...	ORPHA:85450
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Schwartz-Jampel Syndrome	Blepharospasm, Shoulder flexion contracture, Joint stiffness, Hip contracture, Decreased body wei...	ORPHA:800
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Elevated circ...	ORPHA:91500
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compression, ...	OMIM:259730
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Leukocytosis, Thrombocytosis	ORPHA:2331
Multiple Sulfatase Deficiency	Optic atrophy, Joint stiffness, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:585
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cystathioninemia, Failure to thrive, Hypomethioninemia, Tremor, Megalobla...	OMIM:277400
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Failure to thrive, Joint contracture, Optic nerve hypoplasia	OMIM:617864
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Mucopolysaccharidosis, Type Ii	Hepatosplenomegaly, Abnormality of retinal pigmentation, Splenomegaly, Papilledema, Tracheobronch...	OMIM:309900
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Refsum Disease	Splenomegaly, Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Anemia, Refractory anemia	ORPHA:79076
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia	ORPHA:247691
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Reduced circulating complement concentration, Hyperlipidemia	ORPHA:567546
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Increased circulating IgE level, Reduced circulating com...	ORPHA:449395
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevated circulating ...	ORPHA:79282
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cel...	ORPHA:221139
Micro Syndrome	Optic atrophy, Joint stiffness, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Optic atrophy, Failure to thrive, Pancytopenia, Leukopenia, Hypocalc...	ORPHA:2785
O'Sullivan-Mcleod Syndrome	Eosinophilia, Tremor, Increased circulating antibody level	ORPHA:99965
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Failure to thrive, Hyperoxaluria, Retinopathy, Gener...	ORPHA:416
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Ppoma	Hypercalcemia	ORPHA:97278
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	ORPHA:436159
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Elbow flexion contracture, Hip contracture, Joint hypermobility, Exaggerated start...	OMIM:617301
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Hypopigmentation of the skin, Failure to thriv...	OMIM:242840
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Atypical Werner Syndrome	Limitation of joint mobility, Failure to thrive, Premature graying of hair, Sclerosis of hand bon...	ORPHA:79474
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Desmosterolosis	Joint contracture of the hand, Abnormal circulating cholesterol concentration, Failure to thrive,...	OMIM:602398
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decrea...	OMIM:102700
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	OMIM:617675
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Arthritis, Hy...	OMIM:617591
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Abnormality of retinal pigmentation	ORPHA:2163
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Increa...	ORPHA:90652
Erdheim-Chester Disease	Osteomyelitis, Weight loss, Anemia, Increased bone mineral density, Osteolysis	ORPHA:35687
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrop...	ORPHA:85167
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Optic atrophy, Pigmentary retinopathy, Failure to thrive	ORPHA:436271
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Retina...	OMIM:613154
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Coffin-Lowry Syndrome	Optic atrophy, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Joint hypermobility	ORPHA:192
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk...	OMIM:219800
Stiff-Person Syndrome	Anemia, Opisthotonus, Vitiligo, Exaggerated startle response	OMIM:184850
Joubert Syndrome 8	Optic disc pallor, Obesity, Pigmentary retinopathy	OMIM:612291
Coccidioidomycosis	Granuloma, Osteomyelitis, Abnormality of the spleen, Abscess, Eosinophilia, Arthritis, Abnormal r...	ORPHA:228123
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Knee flexion contracture, Elevated circulating creatine kina...	OMIM:618733
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Joint hypermobility	OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Retinal det...	OMIM:253800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Sarcoidosis	Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly...	ORPHA:797
Grfoma	Hypercalcemia	ORPHA:97261
Lowry-Wood Syndrome	Joint stiffness, Abnormality of retinal pigmentation	ORPHA:1824
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Cherry red spot of the macula	ORPHA:309246
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal blood...	ORPHA:411629
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Optic atrophy, Cherry red spot of the macula, Laryngeal dyst...	ORPHA:845
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, Optic atrophy, Pigmentary retinopathy, Failure to thrive	OMIM:220110
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Congenital contracture, C...	ORPHA:191
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Splenomegaly, Hypocalcemia	OMIM:235255
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Tooth absces...	ORPHA:89936
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Failure to thrive, Epiphyseal stippling, Optic disc pallor, Elevated circ...	OMIM:214100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy...	OMIM:242860
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati...	OMIM:270400
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp...	ORPHA:699
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Hypocalcemia...	OMIM:607143
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Alstrom Syndrome	Pigmentary retinopathy, Obesity, Attenuation of retinal blood vessels, Hypertriglyceridemia, Hype...	OMIM:203800
Raine Syndrome	Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste...	OMIM:259775
Igg4-Related Pachymeningitis	Abnormal optic nerve morphology, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449427
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Joint stiffness, Abnormality of retinal pigmentation, Retinal detachment, Osteopor...	ORPHA:394
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula	ORPHA:309155
Cystic Echinococcosis	Peritoneal abscess, Hyperbilirubinemia, Abscess, Splenic cyst, Increased circulating antibody lev...	ORPHA:400
Usher Syndrome	Vestibular areflexia, Abnormality of retinal pigmentation	ORPHA:886
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Limitation of joint mobility, Failure to thrive, Ivory epi...	OMIM:133540
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia	ORPHA:1655
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Contractures of the large joints, Failure to thrive, Exaggerated startle response,...	ORPHA:521426
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Limitation of joint mobility, Retinal pigment epithelial m...	OMIM:216400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Abnormality of retinal pigmentation, Cachexia, Multiple cafe-au-lait spots, Ge...	ORPHA:1969
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Increased circulating IgE level, Leukocytosis, Autoimmun...	OMIM:620565
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Failure to thrive, Decreased circulating IgA l...	OMIM:620376
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Low plasma citrulline, Hyperalaninemia,...	ORPHA:255210
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Failure to thrive, Lymphopenia, Neutropenia, Joint contracture, Anemia	OMIM:618460
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Crimean-Congo Hemorrhagic Fever	Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine k...	ORPHA:99827
Mucopolysaccharidosis Type 2	Optic atrophy, Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints...	ORPHA:580
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Prolidase Deficiency	Failure to thrive, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:170100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocyt...	OMIM:618278
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Dysgammag...	OMIM:251260
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypocalcemia, Splenomegaly, Tremor, Hypophosphatemia, Osteopetrosis, Ane...	ORPHA:667
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Craniofacial hyperostosis, Joint stiffness, Increased susc...	ORPHA:581
Williams Syndrome	Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con...	ORPHA:904
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Mogs-Cdg	Decreased circulating IgG level, Optic atrophy, Fair hair, Decreased circulating IgA level, Hepat...	ORPHA:79330
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Anemia, Abno...	OMIM:620040
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Tongue tremor, Abnormality of retinal pigmentation, Tremor, Flexio...	ORPHA:466768
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Tay-Sachs Disease	Exaggerated startle response, Cherry red spot of the macula	OMIM:272800
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Optic atrophy, Macular degeneration, Elbow flexion contracture, ...	ORPHA:3132
Bardet-Biedl Syndrome 1	Obesity, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degen...	OMIM:209900
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Septic arthritis, Decreased circulating IgA level, Agammaglobuli...	OMIM:300755
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Tremor, Exaggerated startle response	OMIM:620327
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Increased circulating IgG4 level, Optic nerve compression, Incre...	ORPHA:79078
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia	ORPHA:544482
Hyper-Igd Syndrome	Neutrophilia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Ar...	OMIM:260920
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Contractures of the large joints, Failure to thrive, Exaggerated startle response	OMIM:617527
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Leukocyte Adhesion Deficiency	Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Impaired neutro...	ORPHA:2968
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Decreased circulating IgA level, A...	ORPHA:125
Aicardi Syndrome	Optic atrophy, Block vertebrae, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retin...	ORPHA:50
Neurofibromatosis Type 1	Osteopenia, Inguinal freckling, Chronic myelogenous leukemia, Hypopigmented skin patches, Chorior...	ORPHA:636
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Papa Syndrome	Limitation of joint mobility, Arthritis, Increased circulating antibody level	ORPHA:69126
Trisomy 18	Cachexia, Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:3380
Doors Syndrome	Thrombocytosis	ORPHA:79500
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Leukemia, Decreased circulating Ig...	OMIM:210900
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Abnorma...	ORPHA:217085
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Weight loss, Mildly elevated creatine kinase	OMIM:607459
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Acanthocytosis, Tremor, Retinal degeneratio...	OMIM:234200
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele...	OMIM:619534
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Abnorma...	ORPHA:217093
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo...	ORPHA:79329
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Optic atrophy, Hyperalaninemia, Exaggerated startle response	OMIM:620451
Melas	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Vitiligo, Anemia	ORPHA:550
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Failure to thrive, Abnormality of retinal pigmentation, Abnormal vitr...	ORPHA:2556
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Sandhoff Disease	Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula	OMIM:268800
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Japanese Encephalitis	Pill-rolling tremor, Elbow flexion contracture, Stiff neck, Tremor, Increased circulating antibod...	ORPHA:79139
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Hyperpigmentation of the skin, Increased circulating antibody level	ORPHA:48377
Pyoderma Gangrenosum	Rheumatoid arthritis, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Carpal synostosis, Limited elbow extension, Abnormality of retinal pigmentation,...	OMIM:272460
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly, Eosinophilia, Cachexia, Increased circulating interleukin 6 concen...	ORPHA:75565
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Liver Disease, Severe Congenital	Aminoaciduria, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Sple...	OMIM:619991
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Tremor, Elevated circulating creatine kinase concentration, Increased circulating an...	OMIM:606002
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Pigmentary retinopathy	OMIM:614230
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia	OMIM:620423
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density	ORPHA:50945
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Exaggerated startle response	OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Thymus hyperplasia, Chorioretinal coloboma, C...	ORPHA:744
Igg4-Related Ophthalmic Disease	Abnormal optic nerve morphology, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Ramon Syndrome	Juvenile rheumatoid arthritis, Optic disc pallor, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula	ORPHA:79255
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia	ORPHA:358
Hardikar Syndrome	Pigmentary retinopathy, Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism,...	OMIM:301068
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Sclerosteosis 1	Optic atrophy, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Papilledema, C...	OMIM:269500
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Postinfectious Vasculitis	Abnormality of humoral immunity, Elevated haptoglobin level, Increased circulating antibody level...	ORPHA:48435
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Arthritis, Decreas...	ORPHA:420741
Hennekam Syndrome	Lymphopenia, Splenomegaly, Hypocalcemia	ORPHA:2136
Sotos Syndrome	Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Pmm2-Cdg	Hypoalbuminemia, Osteopenia, Failure to thrive, Multiple joint contractures, Reduced thyroxin-bin...	ORPHA:79318
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv...	ORPHA:83471
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Increased circulating a...	OMIM:615846
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Flexion contracture, Small for gestational age, Freckling	OMIM:601675
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Q Fever	Granuloma, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level,...	ORPHA:781
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia	ORPHA:567
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop...	OMIM:619472
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thickened cortex of ...	OMIM:269150
Encephalitis Lethargica	Stiff neck, Tremor, Increased circulating antibody level	ORPHA:83600
Alagille Syndrome 1	Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy, Hypercholesterolemia, Hypertrig...	OMIM:118450
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Chorioretinitis, Bone cyst, Increased circulating...	OMIM:181000
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Pigmentary retinopathy, Osteopenia, Optic disc hypoplasia, Failure to thrive, Camp...	ORPHA:3455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Primary Sjögren Syndrome	Normocytic anemia, Reduced circulating complement concentration, Vitiligo, Decreased circulating ...	ORPHA:289390
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr...	ORPHA:183675
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Osteopenia, Limited elbow extension, Neutropenia, Laryngotracheo...	OMIM:271510
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Joint hyperm...	OMIM:617062
Cysticercosis	Abnormal optic chiasm morphology, Stiff neck, Chorioretinitis, Increased circulating antibody lev...	ORPHA:1560
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Small for ...	OMIM:606721
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Hypocholesterolemia, Decreased circulating IgA ...	OMIM:223370
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Osteopenia, Joint hypermobility, Optic disc pallor, Exa...	ORPHA:438213
Digeorge Syndrome	Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Anemia	OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia	OMIM:619503
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Charge Syndrome	Lymphopenia, Hypocalcemia	OMIM:214800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Optic atrophy, Failure to thrive in infancy, Secretory IgA defic...	ORPHA:500150
Johanson-Blizzard Syndrome	Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia	OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Joint hypermobility	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nfya

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nfya.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Nfya^{Gt(EUCJ0004f10)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Nfya^{Gt(EUCJ0004f10)Hmgu}	PMC6459510

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Nfya^{tm169999(pL1L2_GT0_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nfya^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Nfya^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfya^{Gt(EUCJ0004f10)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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