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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
increased circulating calcium level	Nfya^Nfya	HET	Early adult	7.26×10^-08
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
decreased body weight	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.94×10^-07
increased circulating creatinine level	Nfya^Nfya	HET	Early adult	8.49×10^-08
increased leukocyte cell number	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	2.80×10^-05
abnormal head morphology	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	5.20×10^-17
increased IgG1 level	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	2.05×10^-07
abnormal retina pigmentation	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.63×10^-05
thrombocytosis	Nfya^Nfya	HET	Early adult	1.12×10^-05
abnormal eye morphology	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.23×10^-05
decreased body length	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	8.71×10^-15
increased bone mineral density	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	1.41×10^-05
decreased circulating serum albumin level	Nfya^{Gt(EUCJ0004f10)Hmgu}	HET	Early adult	9.91×10^-05

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 (997 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
Adamantinoma	Hypercalcemia	ORPHA:55881
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Increased circulating IgG level, Inc...	OMIM:209950
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc...	OMIM:308240
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ...	OMIM:616050
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop...	ORPHA:507
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased c...	ORPHA:98813
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease...	ORPHA:169154
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Primary Membranoproliferative Glomerulonephritis	Drusen, Decreased circulating complement C3 concentration, Hypoalbuminemia	ORPHA:54370
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Craniosynostosis	ORPHA:178377
Primary Intestinal Lymphangiectasia	Lymphopenia, Weight loss, Decreased circulating antibody level, Decreased circulating total IgM, ...	ORPHA:90362
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Alg6-Cdg	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, ...	ORPHA:79320
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ...	ORPHA:37748
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r...	ORPHA:158061
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt...	ORPHA:3152
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Generalized dystonia, Optic disc pallor	OMIM:619389
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati...	OMIM:620366
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Abnormality of thrombocytes, Hypocalcemia	ORPHA:172
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia, Intention tremor	OMIM:266130
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenome...	OMIM:611490
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration	OMIM:275400
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi...	OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased circu...	OMIM:614307
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Small for gestational age, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased...	OMIM:603553
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia	OMIM:239200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Juvenile Paget Disease	Abnormality of retinal pigmentation, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Opt...	ORPHA:2801
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c...	ORPHA:540
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Increased circulating Ig...	ORPHA:206594
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati...	ORPHA:86816
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki...	OMIM:300400
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Cofs Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger, Joint stiffness, Optic atrophy, Art...	ORPHA:1466
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Increased circulating...	ORPHA:100024
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density	ORPHA:3156
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia	OMIM:264470
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy...	OMIM:239000
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, ...	OMIM:608104
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ...	OMIM:618987
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Tremor, Rod-cone dystrophy, Flexion contracture, Decreased circula...	OMIM:212065
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormal immunoglobulin le...	ORPHA:276
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Osteoporosis	OMIM:618234
Spinocerebellar Ataxia 7	Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le...	OMIM:615285
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Failure to thrive, Anemia	OMIM:615085
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Flexion contracture, Optic atrophy, Increased circulating IgM lev...	OMIM:617303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Ramon Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Osteolysis	ORPHA:3019
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A...	OMIM:615934
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Increased circulating IgG lev...	OMIM:618495
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Macular dege...	ORPHA:816
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Alg12-Cdg	Hyponatremia, Retinal detachment, Partial absence of specific antibody response to Haemophilus in...	ORPHA:79324
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia	ORPHA:134
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:858
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Chorioretinal atrophy, Optic atrophy, Weight loss, Hepatosplenome...	OMIM:619487
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy...	ORPHA:199299
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninemia, Attenuation of reti...	OMIM:204000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Joint hyperflexibility, Heterochromia iridis, Abnormality o...	ORPHA:1390
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormality of body weight, Decreased circulating compl...	ORPHA:2298
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia	OMIM:256300
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Wolcott-Rallison Syndrome	Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis...	ORPHA:1667
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Oculopharyngodistal Myopathy 3	Tremor, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:619473
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo...	ORPHA:48818
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia	OMIM:618440
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t...	OMIM:300310
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticul...	ORPHA:14
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosino...	ORPHA:443811
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Oligoarthritis, Decreased circulating total IgM, T lym...	OMIM:619510
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity	ORPHA:791
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Weight loss, Increased susceptibility to fractures, Opis...	ORPHA:216866
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Multiple joint contractures, Elevated circulating creatine kinase concent...	ORPHA:370968
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis, Aminoaciduria, Hyperammonemia	OMIM:615486
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Joint stiffness, Splenomegaly, Reduced bone mineral density, Decreased circulating t...	OMIM:620210
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory...	OMIM:615767
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Iris transillumination defect, Osteopetrosis, Decreased body weig...	OMIM:617306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Thrombocytopenia, Flexion contracture, Opti...	ORPHA:505248
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin	OMIM:617575
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Microcytic anemia, Increased circulating...	OMIM:600462
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Wilson Disease	Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,...	OMIM:277900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased...	OMIM:617093
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In...	OMIM:615559
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Flexion contracture, Optic atrophy, Dystonia	OMIM:252011
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Th...	OMIM:259720
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Spondyloepiphyseal Dysplasia Tarda	Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ...	ORPHA:93284
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea...	OMIM:618969
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ...	ORPHA:163649
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Flexion contracture, Anemia, Decreased circulating carnitine concentration,...	ORPHA:89842
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati...	ORPHA:186
Vici Syndrome	Decreased circulating IgG level, Abnormality of retinal pigmentation, Joint stiffness, Optic atro...	ORPHA:1493
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Increased circulating IgE level, Increased ...	OMIM:615816
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep...	OMIM:145350
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti...	ORPHA:331206
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Depigmentation/hyperpigmentation of skin, Decreased circulating antibody level,...	ORPHA:79396
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Hand tremor	ORPHA:100996
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr...	OMIM:301074
Trichohepatoenteric Syndrome 1	Small for gestational age, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Decrease...	OMIM:222470
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Increased circulating IgE level, Hypoalbuminemia, Hypernatremia	OMIM:615508
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag...	OMIM:127000
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ...	ORPHA:36234
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Increased circul...	ORPHA:85443
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ...	OMIM:609033
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur...	OMIM:560000
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re...	OMIM:617282
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Dystonia, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Fractures of ...	ORPHA:157850
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Limited wrist extension, Distal arthrogryposis, Congenital f...	OMIM:108145
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Leigh Syndrome	Pigmentary retinopathy, Failure to thrive, Optic atrophy, Dystonia	OMIM:256000
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Increased circulating IgE level, Lack of T cell function, Abnormality of humoral imm...	ORPHA:277
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa...	ORPHA:5
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Weight loss, Sclerosis of skull base...	ORPHA:2905
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Obesity	ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:613156
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Xfe Progeroid Syndrome	Cachexia, Optic atrophy, Hypoalbuminemia, Failure to thrive, Attenuation of retinal blood vessels	OMIM:610965
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia	ORPHA:83313
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Normochromic anemia, Hypoalbuminemia, Intention tremor, Thrombocytopenia, Action...	OMIM:254900
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa...	ORPHA:1304
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination...	OMIM:308230
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ...	OMIM:613658
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Galloway-Mowat Syndrome 1	Dystonia, Small for gestational age, Optic atrophy, Hypoalbuminemia, Camptodactyly, Joint contrac...	OMIM:251300
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci...	OMIM:619752
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Desmoid Tumor	Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis	ORPHA:873
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de...	OMIM:615986
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co...	ORPHA:1782
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia	OMIM:619059
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig...	ORPHA:74
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circulating IgE level,...	OMIM:147060
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Pheochromocytoma	Hypercalcemia	OMIM:171300
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:290
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Cln3 Disease	Pigmentary retinopathy, Vacuolated lymphocytes, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic nerve compression, Splenomegaly, Optic atrophy, Anemia...	OMIM:612301
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Failure to t...	ORPHA:169160
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Ataxia With Vitamin E Deficiency	Tremor, Abnormality of retinal pigmentation, Dystonia	ORPHA:96
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Joint stiffness, Osteoporosi...	ORPHA:902
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina...	OMIM:619055
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Pigmentary retinopathy,...	ORPHA:2235
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Autoimmune Hepatitis	Splenomegaly, Arthritis, Increased circulating IgG level, Increased circulating antibody level, I...	ORPHA:2137
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Weight loss, Polyclonal e...	ORPHA:171
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Truncal titubation, Rod-cone dystrophy, P...	ORPHA:88628
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
12Q14 Microdeletion Syndrome	Tremor, Abnormality of the spleen, Osteopoikilosis, Failure to thrive, Hyperpigmentation of the skin	ORPHA:94063
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response, Flexion contracture	OMIM:618201
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Thrombocytopenia, Retinal vasculitis, Decreased circula...	OMIM:615758
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Activated Pi3K-Delta Syndrome	Splenomegaly, Decreased circulating antibody level, Arthritis, Increased circulating IgM level, B...	ORPHA:397596
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss, Knee flexion contracture	ORPHA:3208
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca...	OMIM:618183
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Ataxia-Telangiectasia	Lymphopenia, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Tremor, Dec...	OMIM:208900
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Joint contracture of the hand, Pigmentary retinopathy, H...	OMIM:214110
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Small for gestational age, Sp...	ORPHA:404454
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho...	OMIM:618986
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:617729
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy, Thromb...	OMIM:222300
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s...	ORPHA:763
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling, Dystonia	OMIM:614105
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased...	OMIM:616005
Mulibrey Nanism	Pigmentary retinopathy, Thickened cortex of long bones	OMIM:253250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio...	OMIM:617156
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Exaggerated startle response, Joint contracture, Optic atrophy	OMIM:616881
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:235510
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci...	OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Tick-Borne Encephalitis	Stiff neck, Elevated circulating C-reactive protein concentration, Tremor, Leukocytosis, Increase...	ORPHA:297
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci...	OMIM:616100
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:605231
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Choreoathetosi...	ORPHA:79443
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R...	OMIM:268315
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy...	ORPHA:71212
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Op...	OMIM:259900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy	OMIM:609541
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	ORPHA:79095
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c...	OMIM:615994
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the...	OMIM:618541
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia	ORPHA:97282
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t...	OMIM:224300
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thr...	OMIM:614700
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas...	ORPHA:77261
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy	ORPHA:320406
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O...	OMIM:618476
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic...	ORPHA:193
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets	OMIM:219900
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi...	ORPHA:79444
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Conjugated hyperbilirubinemia, Brushfield spots, Rod-cone dystrophy, O...	OMIM:614866
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Failu...	OMIM:256040
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Neutropenia, Decreased circul...	ORPHA:175
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Generalized joint laxity, Pigmentary retinopathy, Mildly elevated crea...	ORPHA:502423
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Glucagonoma	Normochromic anemia, Hypercalcemia, Acanthocytosis	ORPHA:97280
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Lowry-Wood Syndrome	Elbow flexion contracture, Pigmentary retinopathy, Limited elbow extension, Small for gestational...	OMIM:226960
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell...	OMIM:301078
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Timothy Syndrome	Hypocalcemia	OMIM:601005
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Truncal o...	OMIM:203800
Rift Valley Fever	Retinitis, Thrombocytopenia, Retinal hemorrhage, Macular edema, Retinal vasculitis, Increased cir...	ORPHA:319251
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Prolidase Deficiency	Splenomegaly, Abnormality of retinal pigmentation, White forelock, Reduced bone mineral density	ORPHA:742
Cockayne Syndrome Type 1	Foot joint contracture, Hypermelanotic macule, Tremor, Optic atrophy, Pigmentary retinopathy, Inc...	ORPHA:90321
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Refsum Disease	Splenomegaly, Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia, Cachexia	ORPHA:79076
Multiple Sulfatase Deficiency	Splenomegaly, Abnormality of retinal pigmentation, Optic atrophy, Joint stiffness	ORPHA:585
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Recurrent fractures, Elevated circulating creatine kinase concentr...	ORPHA:2785
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen...	ORPHA:79282
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia	OMIM:617864
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Optic nerve hypoplasia, A...	ORPHA:221139
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Art...	OMIM:304790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Complement deficiency, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased lymphocyte...	OMIM:606367
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Aminoaciduria, Hypocalcemia	OMIM:617913
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Joint stiffness	ORPHA:2510
Ppoma	Hypercalcemia	ORPHA:97278
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Flexion contracture, Hepatospleno...	OMIM:309900
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized ...	ORPHA:416
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Tularemia	Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta...	ORPHA:3392
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Elevat...	OMIM:242840
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype...	ORPHA:79474
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c...	OMIM:617301
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis...	OMIM:617591
Myopathy, Mitochondrial, And Ataxia	Tremor, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617675
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Abnormal circulating cholesterol conce...	OMIM:602398
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Lymphopenia, Apla...	OMIM:102700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar...	OMIM:613154
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca...	ORPHA:90652
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Hepatos...	ORPHA:845
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:2163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l...	OMIM:602450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Failure to thrive, Optic atrophy, Anemia	ORPHA:436271
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Thrombocytopenia...	OMIM:300972
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Coffin-Lowry Syndrome	Joint hyperflexibility, Optic atrophy, Craniofacial hyperostosis, Abnormality of retinal pigmenta...	ORPHA:192
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Grfoma	Hypercalcemia	ORPHA:97261
O'Sullivan-Mcleod Syndrome	Tremor, Increased circulating antibody level, Eosinophilia	ORPHA:99965
Stiff-Person Syndrome	Vitiligo, Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Anemia	ORPHA:35687
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:616562
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen...	ORPHA:797
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe...	OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Pigmentary retinopathy	OMIM:612582
Coccidioidomycosis	Osteomyelitis, Abnormal retinal morphology, Abscess, Eosinophilia, Abnormality of the spleen, Ost...	ORPHA:228123
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,...	ORPHA:411629
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Joint stiffness	ORPHA:1824
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Failure to thrive, Optic atrophy, Anemia	OMIM:220110
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Smith-Lemli-Opitz Syndrome	Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co...	OMIM:270400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Elevated circu...	OMIM:214100
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel...	OMIM:242860
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Retinal detachment, Small for gestational age, Decreased circula...	OMIM:607143
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cache...	ORPHA:191
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinopathy, Retinal pigmen...	OMIM:219800
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449427
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Cystic Echinococcosis	Abscess, Eosinophilia, Bone cyst, Weight loss, Increased circulating antibody level, Hyperbilirub...	ORPHA:400
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Recurrent fractures, Joint stiffness, Os...	ORPHA:394
Bardet-Biedl Syndrome	Pigmentary retinopathy, Obesity	ORPHA:110
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Usher Syndrome	Abnormality of retinal pigmentation, Vestibular areflexia	ORPHA:886
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE ...	OMIM:256500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge...	ORPHA:1969
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Optic atrophy, Contracture...	ORPHA:521426
Cockayne Syndrome B	Small for gestational age, Tremor, Splenomegaly, Limitation of joint mobility, Osteoporosis, Opti...	OMIM:133540
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H...	OMIM:618278
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia	ORPHA:562639
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Khan-Khan-Katsanis Syndrome	Lymphopenia, Pigmentary retinopathy, Neutropenia, Joint contracture, Failure to thrive, Anemia	OMIM:618460
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Tremor, Retinal pigment epithelial mottling, Splenomegaly, Limi...	OMIM:216400
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Stiff neck, Neutrophilia, Elevated circulating creatine kinase concentration, Splen...	ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop...	ORPHA:667
Mitochondrial Dna-Associated Leigh Syndrome	Rod-cone dystrophy, Low plasma citrulline, Optic atrophy, Pigmentary retinopathy, Dystonia, Hyper...	ORPHA:255210
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressi...	OMIM:251260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Tremor, Tongue tremor, Joint contracture of the hand, Congen...	ORPHA:466768
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sideroblastic anemia	OMIM:530000
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Limit...	ORPHA:580
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE...	OMIM:300755
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Abnormality of skin pigmentation, Decreased circulating total Ig...	OMIM:620040
Say-Barber-Miller Syndrome	Craniosynostosis, Rod-cone dystrophy, Elbow flexion contracture, Transient hypogammaglobulinemia ...	ORPHA:3132
Mogs-Cdg	Fair hair, Optic atrophy, Decreased circulating antibody level, Hepatosplenomegaly, Decreased cir...	ORPHA:79330
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased circula...	ORPHA:79078
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Increased circulating IgA level, Rod-cone dystrophy, Leukocytosi...	OMIM:260920
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ...	OMIM:209900
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ...	ORPHA:125
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Failure to thrive, Hypoasparaginemia	OMIM:615574
Prolidase Deficiency	Splenomegaly, Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia	OMIM:170100
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Joint stiffness, Splenomegaly, Flexion contracture, Optic atrophy, Red...	ORPHA:581
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Exaggerated startle response, Failure to thrive, Optic atrophy	OMIM:617527
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cel...	ORPHA:508533
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op...	ORPHA:50
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Doors Syndrome	Thrombocytosis	ORPHA:79500
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigmentation, Decreased circulatin...	OMIM:210900
Trisomy 18	Abnormality of retinal pigmentation, Camptodactyly of finger, Cachexia	ORPHA:3380
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Papa Syndrome	Arthritis, Limitation of joint mobility, Increased circulating antibody level	ORPHA:69126
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome...	OMIM:619534
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Acanthocytosis, Tremor, Optic atrophy, Blepharospasm, Choreoatheto...	OMIM:234200
Melas	Optic atrophy, Pigmentary retinopathy, Failure to thrive, Anemia, Vitiligo	ORPHA:550
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Decrea...	ORPHA:79329
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recurrent fractures, Joint st...	ORPHA:636
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level, Weight loss	ORPHA:723
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho...	ORPHA:217085
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Hypoalbu...	ORPHA:75565
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Hyperpigmentation of the skin	ORPHA:48377
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho...	ORPHA:217093
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48104
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Japanese Encephalitis	Hyponatremia, Stiff neck, Neutrophilia, Tremor, Elbow flexion contracture, Opisthotonus, Pill-rol...	ORPHA:79139
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Abnormality of retinal pigmentation, Block vertebrae, Tarsal synostosis, Capita...	OMIM:272460
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Hypopi...	ORPHA:2556
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Thymus...	ORPHA:744
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Camptodactyly	OMIM:614230
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:79255
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449563
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Ramon Syndrome	Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Pigmentary retinopathy, Hyperbilir...	OMIM:301068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sclerosteosis 1	Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C...	OMIM:269500
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Postinfectious Vasculitis	Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration...	ORPHA:48435
Sotos Syndrome	Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Bone cyst, Weight loss, Abnormal spleen morphology, Increased circul...	ORPHA:284
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Rod-cone dystrophy, Reduced thyroxin-bindi...	ORPHA:79318
Hennekam Syndrome	Splenomegaly, Lymphopenia, Hypocalcemia	ORPHA:2136
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Weight loss, Arthritis, Decreased circulati...	ORPHA:420741
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Freckling, Flexion contracture, Small for gestational age	OMIM:601675
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia	ORPHA:319218
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytopenia, S...	OMIM:615846
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	ORPHA:567
Q Fever	Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Weight loss, Granuloma, Increa...	ORPHA:781
Viss Syndrome	Joint laxity, Retinal detachment, Generalized joint laxity, Increased circulating IgE level, Hype...	OMIM:619472
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Opisthotonus, Sclerosis of skull base, ...	OMIM:269150
Encephalitis Lethargica	Tremor, Stiff neck, Increased circulating antibody level	ORPHA:83600
Alagille Syndrome 1	Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Hypercholesterolemia, Failur...	OMIM:118450
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Optic neuropathy, Splenomegaly, Bone cyst, Weight...	OMIM:181000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Arthritis, Decreased circulating total IgM, Rheumatoid arthritis, Decreased circul...	ORPHA:183675
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Failure to thrive, Joint h...	OMIM:617062
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypertriglyceridemia, Optic disc hypoplasia, Camptodactyly of finger, Tremor, Optic a...	ORPHA:3455
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Decr...	OMIM:620005
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia, Decreased c...	OMIM:271510
Primary Sjögren Syndrome	Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant...	ORPHA:289390
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolem...	OMIM:223370
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Pigmentary retinopathy, Hypercholesterolemia, Fa...	OMIM:606721
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Exaggerated startle response, Optic disc pallor, Decreased serum iron, ...	ORPHA:438213
Cysticercosis	Retinal detachment, Abnormal optic chiasm morphology, Stiff neck, Chorioretinitis, Increased circ...	ORPHA:1560
Digeorge Syndrome	Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia	OMIM:619503
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 disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	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	Failure to thrive in infancy, Optic nerve hypoplasia, Sagittal craniosynostosis, Hyperextensible ...	ORPHA:500150
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration	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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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