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Gene: Elk4 MGI:102853

Gene Summary

Name:

ELK4, member of ETS oncogene family

Synonyms:

2310011G17Rik, Sap1, A130026I01Rik

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 bone mineral density	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.78×10^-05
increased circulating aspartate transaminase level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.93×10^-07
corneal opacity	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.72×10^-06
decreased CD8-positive, alpha-beta T cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.47×10^-10
decreased circulating triglyceride level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.85×10^-06
increased bone mineral content	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.30×10^-08
decreased circulating cholesterol level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.56×10^-08
increased B cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.33×10^-07
decreased circulating LDL cholesterol level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.13×10^-05
decreased circulating HDL cholesterol level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.71×10^-05
decreased T cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.14×10^-13
increased circulating sodium level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.18×10^-05
abnormal retina morphology	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.61×10^-16
increased T cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.81×10^-12
increased lactate dehydrogenase level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.56×10^-05
decreased circulating glycerol level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.47×10^-06
decreased lean body mass	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.25×10^-09
decreased circulating sodium level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.18×10^-05
increased circulating alkaline phosphatase level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.27×10^-09
decreased mature B cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.47×10^-05
abnormal cornea morphology	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.72×10^-06
decreased CD4-positive, alpha-beta T cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.71×10^-16
abnormal bone structure	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.10×10^-06
increased bone mineral density	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.07×10^-07
decreased circulating serum albumin level	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.64×10^-06
decreased erythrocyte cell number	Elk4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.72×10^-06

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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.

Phenotype associated images not available

Human diseases caused by Elk4 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 Elk4 (0 diseases)
Human diseases predicted to be associated with Elk4 (755 diseases)

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

The table below shows human diseases predicted to be associated to Elk4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Immunodeficiency 104	Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529799
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased...	OMIM:616050
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi...	OMIM:209950
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren...	OMIM:610600
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Alg8-Cdg	Hyponatremia, Cataract, Small for gestational age, Optic atrophy, Anemia, Camptodactyly, Failure ...	ORPHA:79325
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ...	OMIM:620366
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporo...	OMIM:266510
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556037
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity	OMIM:277950
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Osteomyelitis, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Mirage Syndrome	Hyponatremia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight...	OMIM:617053
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Failure...	ORPHA:199299
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Failu...	OMIM:620157
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Alg12-Cdg	Hyponatremia, Retinal detachment, Abnormal bone ossification, Camptodactyly, Hypoalbuminemia, B l...	ORPHA:79324
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center	ORPHA:277
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticul...	ORPHA:14
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c...	OMIM:616834
Alg6-Cdg	Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoalbuminemia, Failure to thrive, ...	ORPHA:79320
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio	OMIM:617006
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperaldosteronism, Hyperkalemia	OMIM:264350
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t...	OMIM:607765
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenome...	OMIM:611490
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia	ORPHA:79273
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Abnormal leukocyte morphology, Hypertriglyceri...	ORPHA:167
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ...	ORPHA:96180
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Failure to...	OMIM:608104
Familial Dysautonomia	Hyponatremia, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, O...	ORPHA:1764
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia	OMIM:304800
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag...	OMIM:127000
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Leukocytosis, Abnormal blood ion concentrati...	ORPHA:810
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Craniosynostosis	ORPHA:178377
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Astigmatism, Failure to thrive, Anemia	ORPHA:97362
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocal...	OMIM:617913
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Th...	OMIM:259720
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt...	ORPHA:3152
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retino...	ORPHA:71
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,...	OMIM:620155
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	OMIM:614736
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Hyperca...	ORPHA:85138
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Flexion contracture, Hypoalbuminemia, Steatorrhea, Thrombocytosis,...	OMIM:212065
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Legionnaires Disease	Hyponatremia, Splenomegaly, Lymphopenia, Bone marrow hypocellularity	ORPHA:549
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hyperammonemia,...	ORPHA:3008
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Mucolipidosis Type Iii	Corneal opacity, Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density	ORPHA:577
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy...	OMIM:239000
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio...	OMIM:618156
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Flexion contracture, Optic atrophy, Leukopenia, Chorioretinal hyp...	OMIM:617303
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Nephrogenic Diabetes Insipidus	Failure to thrive, Hypernatremia	ORPHA:223
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Sialidosis Type 2	Corneal opacity, Splenomegaly, Flexion contracture, Osteoporosis, Abnormal macular morphology	ORPHA:87876
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells	OMIM:616098
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca...	ORPHA:36913
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Large for gestational age	ORPHA:2432
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemi...	ORPHA:95409
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Reduced bone mineral density	ORPHA:2370
Webb-Dattani Syndrome	Hypernatremia, Obesity	OMIM:615926
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:199296
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Anemia, Decreased ...	ORPHA:89842
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Optic atrophy, Osteoporosis, Chorioretinal atrophy, Hepatosplenomegaly, Weight ...	OMIM:619487
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Whipple Disease	Hyponatremia, Cachexia, Splenomegaly, Arthritis, Anemia	ORPHA:3452
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Failure to thrive, Increased B cell count	ORPHA:98813
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu...	ORPHA:2788
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Normochromic anemia, Mydriasis	ORPHA:95613
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Osteomalacia, Chorioretinal dysplasia, Re...	ORPHA:534
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Retinal pigment epithelial mottling, Splenomegaly, Ri...	OMIM:219800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive	OMIM:300200
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Potocki-Lupski Syndrome	Failure to thrive, Small for gestational age, Hypocholesterolemia	OMIM:610883
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocy...	ORPHA:31150
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ...	ORPHA:36234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Osteoporosis, Hyperkalemia, Reduced bone mine...	ORPHA:168558
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy	OMIM:608688
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia	ORPHA:79473
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Osteoporosis, Hyperkalemia, Reduced bone mine...	ORPHA:289548
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Normochromic anemia	ORPHA:95512
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Optic nerve hypoplasia, Elevated circulating creatine kinase concentra...	OMIM:301056
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Cystinosis	Corneal opacity, Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive, Retinopathy	ORPHA:213
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Normochromic anemia	ORPHA:95513
Linear Verrucous Nevus Syndrome	Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Retinopathy...	ORPHA:2611
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:427
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Corneal opacity, Thrombocytopenia, Hyperlipidemia, ...	ORPHA:1830
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Craniosynostosis, Hypoalbuminemia, Failure to thrive, Anemia	ORPHA:79396
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Hyperphosphatemia, Co...	ORPHA:94089
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Thrombocytopenia, Flexion contracture, Opti...	ORPHA:505248
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno...	ORPHA:163649
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metacarpal...	OMIM:166300
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia ...	ORPHA:290
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Failure to thrive	ORPHA:361
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Ele...	ORPHA:355
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Obesity, Normochromic anemia	ORPHA:91355
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ...	OMIM:613658
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Developmental cataract, Hypocholesterolemia	OMIM:618810
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Alpha-Mannosidosis	Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Arthritis, Synostosis of joints	ORPHA:61
Xfe Progeroid Syndrome	Cachexia, Optic atrophy, Corneal scarring, Hypoalbuminemia, Failure to thrive, Attenuation of ret...	OMIM:610965
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Osteoarthritis, Increased body weight, Weight loss...	ORPHA:2298
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros...	OMIM:617306
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Opacification of the corneal stroma...	OMIM:215250
Japanese Encephalitis	Hyponatremia, Neutrophilia, Stiff neck, Elbow flexion contracture	ORPHA:79139
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a...	ORPHA:544482
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased...	OMIM:617093
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro...	OMIM:601859
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy...	OMIM:610505
Hartsfield Syndrome	Hypernatremia, Craniosynostosis	OMIM:615465
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	ORPHA:90790
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:613011
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opac...	OMIM:251300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Holoprosencephaly	Hyponatremia, Failure to thrive in infancy, Abnormality of the spleen, Optic atrophy, Joint hyper...	ORPHA:2162
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Cataract	OMIM:619851
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Dubowitz Syndrome	Aplastic anemia, Acute lymphoblastic leukemia, Hypoplasia of the iris, Hypocholesterolemia, Megal...	OMIM:223370
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin...	ORPHA:2785
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Sanjad-Sakati Syndrome	Corneal opacity, Patchy osteosclerosis, Hyperphosphatemia, Astigmatism, Hypocalcemia	ORPHA:2323
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Farber Disease	Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Macular...	ORPHA:333
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Morquio Syndrome C	Corneal opacity	OMIM:252300
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi...	ORPHA:186
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh...	ORPHA:171
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Cataract, Obesity, Hyperphosphatemia, Conjunctivitis,...	ORPHA:79444
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Cataract, Band keratopathy, Obesity, Reduced bone min...	ORPHA:79443
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina...	OMIM:619055
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Spondyloepiphyseal Dysplasia Tarda	Retinal detachment, Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis...	ORPHA:93284
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Small for gestational age, Cataract, Microcytic anemia, ...	ORPHA:2959
Hurler-Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Corneal opacity	ORPHA:93476
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Hypereosi...	ORPHA:508533
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Microcornea, Astigmatism, Hypocholesterolemia, Failure to thrive	OMIM:244450
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Optic ne...	OMIM:612301
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Weight loss	ORPHA:317
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Corneal opacity, Recurrent fractures	OMIM:163200
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Joint stiffness	OMIM:252605
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O...	OMIM:618476
Vici Syndrome	Failure to thrive, Cataract, Macular atrophy, Elevated circulating creatine kinase concentration,...	OMIM:242840
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ...	ORPHA:324
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Op...	OMIM:259900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis...	ORPHA:324964
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin...	OMIM:236670
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Hyperopic astigmatism, Craniosynostosis, Opacification of th...	OMIM:252600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:235510
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Weight loss, Sclerosis of skull base...	ORPHA:2905
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ...	ORPHA:276
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Harel-Yoon Syndrome	Developmental cataract, Optic atrophy, Corneal opacity	OMIM:617183
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co...	ORPHA:1782
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity	ORPHA:66628
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Sialidosis Type 1	Cataract, Corneal opacity, Splenomegaly, Cherry red spot of the macula, Retinopathy	ORPHA:812
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Coarse metaphyseal trabecularization	OMIM:618961
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphology...	OMIM:242900
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Opacification of the corneal stroma	OMIM:271630
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Joint stiffness, O...	ORPHA:902
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Cataract, Elevate...	ORPHA:800
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Arthritis, Kayser-Fleischer ring, Patho...	ORPHA:905
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Hypoalbuminemia, Anemia	ORPHA:79076
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Cataract, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal ...	ORPHA:2780
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Obesity	ORPHA:179494
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:617729
Keratoendotheliitis Fugax Hereditaria	Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma	OMIM:148200
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hyp...	OMIM:214110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Gm1 Gangliosidosis	Corneal opacity, Camptodactyly of finger, Joint stiffness, Abnormal retinal vascular morphology, ...	ORPHA:354
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Pycnodysostosis	Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Hepatosplen...	ORPHA:763
Smith-Lemli-Opitz Syndrome	Cataract, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrochol...	OMIM:270400
Zellweger Syndrome	Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield s...	ORPHA:912
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma, Anemia	ORPHA:35687
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Op...	ORPHA:585
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Tarsal synostosis,...	OMIM:201750
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Osteoporosis, Megalocornea	ORPHA:2409
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Desmosterolosis	Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar...	OMIM:602398
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan...	OMIM:259600
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Developmen...	ORPHA:93400
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity	ORPHA:293987
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Hurler Syndrome	Corneal opacity, Joint stiffness, Splenomegaly, Cranial hyperostosis, Flexion contracture, Hepato...	OMIM:607014
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Elevated circulating alpha-fetoprotein concentrat...	OMIM:208900
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Camptodactyly of f...	ORPHA:464
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal ar...	OMIM:175780
Immunodeficiency, Common Variable, 1	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class...	OMIM:607594
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Activated Pi3K-Delta Syndrome	Splenomegaly, Failure to thrive, B lymphocytopenia, Arthritis	ORPHA:397596
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,...	ORPHA:83471
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Hypocalcemia, ...	ORPHA:667
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the...	ORPHA:3163
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoik...	OMIM:607330
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Pancytopenia, Joint laxity, Cataract, Corneal opacity, Craniosynos...	ORPHA:309282
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, Optic nerve hypoplasia, Corneal opacity	ORPHA:496790
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype...	ORPHA:79474
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis, Failure to thrive	ORPHA:94063
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Cherry red spot of the macula	ORPHA:93399
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Limitation of joint mobility, Ocular albinism, Choroideremia, Anemia, ...	ORPHA:2719
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Mucopolysaccharidosis Type 7	Splenomegaly, Epiphyseal stippling, Corneal opacity, Joint stiffness	ORPHA:584
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized ...	ORPHA:416
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Corneal opacity, Joint laxity, Developmental cataract	OMIM:616603
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai...	ORPHA:90794
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Corneal opacity, Joint stiffness	ORPHA:93474
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Failure to thrive, Cataract, Camptodactyly of finger, Tarsal syno...	ORPHA:90652
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t...	OMIM:224300
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity, Joint hypermobility, Increased susceptibility to fra...	ORPHA:357058
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Contracture of the dista...	OMIM:607015
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia	OMIM:603776
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne...	OMIM:607944
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,...	ORPHA:411629
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Flexion cont...	ORPHA:581
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis	ORPHA:1064
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Cataract, Small for gestational age, Conjugated hyperbilirubinemia, Splenomega...	OMIM:614866
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mucopolysaccharidosis, Type Ivb	Joint laxity, Corneal opacity, Joint stiffness, Osteoporosis, Opacification of the corneal stroma	OMIM:253010
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, Corneal opacity	ORPHA:578
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Corneal opacity, Recurrent fractures, Osteoporosis, Hypermyelinated retinal ne...	OMIM:601812
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O...	ORPHA:425
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Osteoporosis, Corneal opacity	ORPHA:488632
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia	OMIM:144010
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Agammaglobulinemia, X-Linked	T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia	OMIM:300755
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Decreased bo...	OMIM:615273
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome...	OMIM:619534
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity, Retinal degeneration	OMIM:272200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Conjunctivitis, Elevate...	OMIM:263700
Mucopolysaccharidosis Type 4	Joint hyperflexibility, Corneal opacity, Reduced bone mineral density	ORPHA:582
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Bartsocas-Papas Syndrome	Popliteal pterygium, Synostosis of joints, Corneal opacity	ORPHA:1234
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger	ORPHA:1794
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocel...	ORPHA:508542
De Barsy Syndrome	Osteopenia, Cataract, Corneal opacity, Generalized joint laxity, Failure to thrive, Abnormal fund...	ORPHA:2962
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:580
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Carpenter Syndrome 1	Sagittal craniosynostosis, Optic atrophy, Obesity, Microcornea, Lambdoidal craniosynostosis, Poly...	OMIM:201000
Mucopolysaccharidosis Type 1	Corneal opacity, Joint stiffness, Splenomegaly, Optic atrophy, Retinopathy	ORPHA:579
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, B lymphocytopenia, Optic neuritis, Neutropenia	OMIM:301081
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Corneal opacity, Optic nerve hypoplasia, Sagittal cranio...	ORPHA:536471
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Megalocornea, Joint laxity, Incre...	ORPHA:904
Chime Syndrome	Corneal opacity, Retinal coloboma, Osteolysis, Acute leukemia	ORPHA:3474
Pseudo-Torch Syndrome 1	Cataract, Splenomegaly, Opacification of the corneal stroma, Failure to thrive, Thrombocytopenia	OMIM:251290
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Craniosynostosis, Obesity, Aniridia, Camptodactyly of toe, Iris coloboma	ORPHA:251038
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Opac...	OMIM:214100
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Optic nerve hypoplasia, Abnormal T cell subset distribution, Arthritis, B lymphocytop...	ORPHA:221139
Mucopolysaccharidosis, Type Vii	Corneal opacity, Joint stiffness, Splenomegaly, Flexion contracture, Limitation of joint mobility	OMIM:253220
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Retinopathy	ORPHA:93473
Pmm2-Cdg	Osteopenia, Joint laxity, Failure to thrive, Multiple joint contractures, Cataract, Reduced thyro...	ORPHA:79318
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pete...	OMIM:612582
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal...	OMIM:602450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Craniosynostosis, Thrombocytopenia, Lymphop...	OMIM:620005
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Cataract	ORPHA:50945
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia	ORPHA:75565
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re...	OMIM:243605
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Craniosynostosis, Splenomegaly, Limitation of jo...	OMIM:252500
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Focal Dermal Hypoplasia	Corneal opacity, Camptodactyly of finger, Ectopia lentis, Hypoplasia of the iris, Chorioretinal c...	ORPHA:2092
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity, Osteolysis	ORPHA:1052
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Retinopathy, Iris coloboma	ORPHA:2396
Mosaic Trisomy 9	Asplenia, Limitation of joint mobility, Corneal opacity, Camptodactyly of finger	ORPHA:99776
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Fused cervical...	OMIM:274000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals	OMIM:219900
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Autoimmune Polyendocrinopathy Type 1	Increased circulating cortisol level, Cataract, Opacification of the corneal stroma	ORPHA:3453
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Craniosynostosis	OMIM:601853
Osteogenesis Imperfecta	Osteopenia, Small for gestational age, Recurrent fractures, Joint hypermobility, Corneal opacity,...	ORPHA:666
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma	OMIM:164900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Astigmatism, Sclerocornea	ORPHA:2095
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Wagro Syndrome	Aniridia, Cataract, Corneal opacity, Obesity	OMIM:612469
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217085
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Flexion contracture of finger, Optic disc pallor, Small for gestational age, ...	ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn...	ORPHA:636
Mucopolysaccharidosis Type 6	Splenomegaly, Failure to thrive, Opacification of the corneal stroma, Joint stiffness	ORPHA:583
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217093
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ...	OMIM:256540
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Dyggve-Melchior-Clausen Disease	Limited knee extension, Failure to thrive, Limited elbow extension, Corneal opacity	ORPHA:239
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Limitation of joint mobility, Corneal opacity, Camptodactyly ...	ORPHA:96061
Fucosidosis	Failure to thrive, Corneal opacity	ORPHA:349
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, Splenomegaly, He...	ORPHA:2072
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Camptodactyly o...	OMIM:256040
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Cockayne Syndrome B	Small for gestational age, Splenomegaly, Limitation of joint mobility, Optic atrophy, Osteoporosi...	OMIM:133540
Sarcoidosis	Hemolytic anemia, Cataract, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count...	ORPHA:797
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Mucopolysaccharidosis, Type Vi	Splenomegaly, Flexion contracture, Corneal opacity, Joint stiffness	OMIM:253200
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea, Camptodactyly	OMIM:614230
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypertriglyceridemia, Optic disc hypoplasia, Camptodactyly of finger, Cataract, Corne...	ORPHA:3455
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Corneal opacity, Astig...	ORPHA:464306
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Posterior embryotoxon, Retinal dystrophy, Chorioretinal dysp...	ORPHA:2556
Mucopolysaccharidosis, Type Iva	Joint laxity, Osteoporosis, Opacification of the corneal stroma	OMIM:253000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Kindler Epidermolysis Bullosa	Corneal opacity, Camptodactyly of finger, Flexion contracture, Conjunctivitis, Anemia	ORPHA:2908
Sclerosteosis 1	Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C...	OMIM:269500
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Rectal abscess, Neutropenia, Failure to thrive	OMIM:601495
Larsen Syndrome	Joint laxity, Vertebral fusion, Corneal opacity, Multiple carpal ossification centers, Tracheomal...	OMIM:150250
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Cataract, Retinal pigment epithelial mottling, Splenomegaly, Li...	OMIM:216400
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Corneal opacity, Joint stiffness, Limited wrist movement, Osteo...	ORPHA:740
Wolf-Hirschhorn Syndrome	Sclerocornea, Optic atrophy, Osteoporosis, Megalocornea, Failure to thrive, Retinopathy, Iris col...	ORPHA:280
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Megalocornea, Failure to thrive, Congenital aphakia	ORPHA:137675
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
3Mc Syndrome 3	Radioulnar synostosis, Corneal opacity	OMIM:248340
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Opacifica...	OMIM:601559
Moebius Syndrome	Arthrogryposis multiplex congenita, Corneal opacity	ORPHA:570
Fryns Syndrome	Corneal opacity	ORPHA:2059
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Septic arthritis, Conjunctivitis, Absent circulating B cells	OMIM:307200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Corneal opacity	ORPHA:364577
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma	OMIM:313400
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Fused c...	ORPHA:83617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa...	OMIM:615287
Meckel Syndrome	Accessory spleen, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Asplenia, Optic atro...	ORPHA:564
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Van Den Ende-Gupta Syndrome	Craniosynostosis, Sclerocornea, Elbow flexion contracture, Knee flexion contracture, Camptodactyl...	OMIM:600920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Digeorge Syndrome	Sclerocornea, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocalcemia, Posterior em...	OMIM:188400
Autosomal Dominant Cutis Laxa	Osteopenia, Corneal opacity, Joint laxity, Developmental cataract	ORPHA:90348
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr...	OMIM:269150
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Smith-Lemli-Opitz Syndrome	Cataract, Sclerocornea, Optic atrophy, Elevated circulating 7-dehydrocholesterol concentration, I...	ORPHA:818
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Optic atrophy, Opaci...	ORPHA:910
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Optic nerve hypoplasia, Sclerocornea	OMIM:206900
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina...	ORPHA:141099
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Mosaic Trisomy 1	Knee joint hypermobility, Elbow flexion contracture, Camptodactyly of finger, Opacification of th...	ORPHA:1692
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity, Camptodactyly of finger	ORPHA:920
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Sclerocornea	OMIM:300952
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Camptodactyly of finger, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis...	ORPHA:2273
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Elbow f...	OMIM:268300
Peters Plus Syndrome	Cataract, Corneal opacity, Optic atrophy, Microcornea, Peters anomaly, Iris coloboma, Anterior ch...	ORPHA:709
Oculoectodermal Syndrome	Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid	OMIM:600268
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Failure to thrive, Corneal opacity	OMIM:608670
Yunis-Varon Syndrome	Absent sternal ossification, Cataract, Sclerocornea, Severe failure to thrive, Decreased skull os...	ORPHA:3472
Bartsocas-Papas Syndrome 1	Flexion contracture, Popliteal pterygium, Opacification of the corneal stroma, Arthrogryposis mul...	OMIM:263650
Fryns Syndrome	Large for gestational age, Opacification of the corneal stroma, Polysplenia, Joint contracture of...	OMIM:229850
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Failure to thrive	OMIM:619869
Hereditary Acrokeratotic Poikiloderma	Joint hyperflexibility, Camptodactyly of finger, Opacification of the corneal stroma, Keratoconju...	ORPHA:2907
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Microphthalmia, Syndromic 6	Retinal dystrophy, Sclerocornea, Microcornea, Lambdoidal craniosynostosis, Failure to thrive	OMIM:607932
Yunis-Varon Syndrome	Absent sternal ossification, Small for gestational age, Failure to thrive in infancy, Cataract, S...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205

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 Elk4

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 Elk4.

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)	Elk4^{tm1a(EUCOMM)Wtsi_H}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Elk4^{tm1a(EUCOMM)Wtsi/H}	PMC6459510

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MGI Allele	Allele Type	Produced
Elk4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Elk4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Elk4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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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