Gene Summary

Name:
Bardet-Biedl syndrome 12 (human)
Synonyms:
LOC386537,  LOC241950

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged thymus Bbs12em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, incomplete penetrance Bbs12em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged spleen Bbs12em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Bbs12em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Bbs12em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Bbs12em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Bbs12em1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Bbs12em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal thymus morphology Bbs12em1(IMPC)Ccpcz HET Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Human diseases caused by Bbs12 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.

The table below shows human diseases associated to Bbs12 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615989
Bardet-Biedl Syndrome
Pigmentary retinopathy, Obesity, Hypogonadism, Hypoplasia of the ovary ORPHA:110

The table below shows human diseases predicted to be associated to Bbs12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Obesity, Retinal dystrophy, Diabetes mellitus OMIM:605231
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71526
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Hypogonadism OMIM:615988
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal bloo... OMIM:615990
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Bardet-Biedl Syndrome 16
Recurrent otitis media, Retinal degeneration, Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615993
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615989
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, D... ORPHA:435660
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Delayed epiphyseal ... OMIM:618889
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased... ORPHA:79085
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Obesity, Retinal dystrophy, Hypogonadism OMIM:615987
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum lepti... ORPHA:435651
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Obesity, Macular dystrophy, Hypogonadism OMIM:615983
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Hyp... OMIM:615238
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:615995
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Bardet-Biedl Syndrome 2
Retinal degeneration, Obesity, Rod-cone dystrophy, Diabetes mellitus, Hypogonadism OMIM:615981
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Retinal degeneration, Small for gestational age, Delayed puberty, ... OMIM:275400
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydipsia, Obesity, Truncal obesity, Rod-cone dystrophy, Polyphagia, Bone ... OMIM:615986
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol concentration, Hyper... OMIM:615703
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Abnormality of retinal pigmentation, Obesity, Type I... ORPHA:791
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Bardet-Biedl Syndrome 22
Large for gestational age, Macular hypopigmentation, Obesity, Rod-cone dystrophy, Polyphagia, Hyp... OMIM:617119
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Obesity, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypog... OMIM:614962
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration, Hypogonadism OMIM:615982
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, Elev... OMIM:615980
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Obesity, Adrenal hypoplasi... OMIM:609734
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Truncal obesity ORPHA:75858
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Retinal degeneration, Type II diabetes mellitus OMIM:520000
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus, Hyperostosis frontalis... OMIM:144800
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum te... ORPHA:179494
Ceroid Lipofuscinosis, Neuronal, 1
Flexion contracture, Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Mody
Large for gestational age, Glycosuria, Retinopathy, Neonatal hypoglycemia, Obesity, Overweight, I... ORPHA:552
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Obesity, Recurrent sinusitis, Arthritis OMIM:300310
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Polyphagia, Glucose into... ORPHA:369873
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Retinal degeneration OMIM:225755
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Abnormality of retinal pigmentation, Obesity, Type II diabetes mellitu... ORPHA:3085
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Skin rash, Fasting hypog... ORPHA:2298
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Temple Syndrome
Recurrent otitis media, Flexion contracture, Small for gestational age, Hypercholesterolemia, Ove... OMIM:616222
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Obesity, Retinal detachment, Retinal d... OMIM:616188
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Obesity, Overweight, Retinal atrophy, Rod-cone dystrop... OMIM:617406
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Alg6-Cdg
Puberty and gonadal disorders, Retinal degeneration, Rod-cone dystrophy, Failure to thrive, Incre... ORPHA:79320
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Dec... ORPHA:280365
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Hernia of the abdominal wall, Obesity ORPHA:3055
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic fibrosis OMIM:613313
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Osteoarthritis, ... ORPHA:77296
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615996
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Optic atrophy OMIM:614947
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Recurrent pneumonia, Retinal degeneration, Optic atrophy OMIM:602271
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Colitis, Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Leptin Receptor Deficiency
Delayed puberty, Obesity, Abnormal eating behavior, Decreased response to growth hormone stimulat... OMIM:614963
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Obesity, Retinal degeneration, Dysphagia OMIM:604360
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Delayed puberty, Obesity, Male hypogonadism, Decreased r... OMIM:300148
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the t... ORPHA:93476
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Narcolepsy Type 1
Obesity ORPHA:2073
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of facial adipose tissue, Flexion contracture, Hyperinsulinemia, Hyperlipidemia, Decreased a... OMIM:608612
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615984
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Acerulo... OMIM:604290
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Loss of truncal subcut... OMIM:151660
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity, Polyphagia OMIM:248100
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Mucolipidosis Iv
Hypergastrinemia, Retinal degeneration, Optic atrophy OMIM:252650
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia, Obesity, Precocious puberty, Maturity-onset diabete... ORPHA:254531
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity OMIM:616756
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Immunodeficiency 32B
Splenomegaly OMIM:226990
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Central Precocious Puberty
Obesity, Acne, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulati... ORPHA:759
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:608540
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulation test, Macronodul... ORPHA:189427
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Bardet-Biedl Syndrome 17
Retinal degeneration, Obesity, Rod-cone dystrophy, Macular atrophy, Polydipsia, Cone/cone-rod dys... OMIM:615994
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Hsd10 Mitochondrial Disease
Hypoglycemia, Retinal degeneration, Optic atrophy OMIM:300438
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cirrhosis OMIM:602390
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Acne, Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitu... OMIM:615830
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Pigmented micronodular adrenocortical disease, Increased urinary cortisol level, ... ORPHA:189439
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Ascites, Ca... ORPHA:615
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Mandibuloacral Dysplasia
Reduced intrathoracic adipose tissue, Insulin resistance, Hyperinsulinemia, Increased subcutaneou... ORPHA:2457
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal degeneration, Obesity, Chorioretinal atrophy OMIM:303110
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Senior-Loken Syndrome 9
Obesity, Tubulointerstitial nephritis, Rod-cone dystrophy, Macular degeneration, Retinal dystroph... OMIM:616629
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Amelogenesis imperfecta, Obesity, Truncal obesity, Inguina... OMIM:618363
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, O... ORPHA:2235
Alstrom Syndrome
Recurrent pneumonia, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nep... OMIM:203800
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Ascit... OMIM:256550
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Oral-pharyngeal dysphagia, Obesity, Chronic otitis media ORPHA:480907
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardiomyopathy, Ascites, Cirrhosis,... OMIM:235200
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Acute pancreatitis, Hyperinsulinemia, Cystic angiomatosis of bone, Reduced intraab... OMIM:608594
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Acne, Inguinal hernia, Type II diabetes mellitus ORPHA:3191
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Hypogonadism, Truncal obesity OMIM:268050
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy, Comedonal acne OMIM:615147
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus, Optic atrophy OMIM:249270
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Osteopenia, Increased bone mineral density, Retinal degeneration, Oste... OMIM:239000
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Obesity, Impaired glucose tolerance, Retinal degeneration OMIM:615630
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Osteoporosis, Diabetes mellitus OMIM:610628
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Acute pancreatitis, Hyperinsulinemia, Cystic angiomatosis of bone, Reduced intraab... OMIM:269700
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615985
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis OMIM:619248
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity... ORPHA:96184
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Osteoarthritis, Truncal obesity, Delayed puberty, Abnormality... ORPHA:633
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Hypercalcemia, Abnormal retinal morphology on macular OCT, Increased blood urea... ORPHA:251004
Werner Syndrome
Retinal degeneration, Osteoporosis, Diabetes mellitus, Hypogonadism OMIM:277700
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Retinal degeneration, Optic atrophy, Camptodactyly of finger OMIM:214980
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Hsd10 Disease, Infantile Type
Hypoglycemia, Retinal degeneration, Rod-cone dystrophy, Dysphagia, Optic atrophy, Hyperammonemia ORPHA:391428
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Enamel hypoplasia, Macular degeneration, Retinal thinning OMIM:270200
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Dysphagia, Optic atrophy OMIM:164500
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Obesity, Retinal coloboma, Hypogonadism ORPHA:363741
Sjögren-Larsson Syndrome
Retinopathy, Inflammatory abnormality of the eye, Abnormality of retinal pigmentation, Abnormal d... ORPHA:816
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Bardet-Biedl Syndrome 1
Retinal degeneration, Insulin resistance, Obesity, Aganglionic megacolon, Truncal obesity, Rod-co... OMIM:209900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Obesity, Retinal coloboma, Hypogonadism OMIM:601794
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital stationary night blindness, Congenital hypothyroidism ORPHA:352530
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Dysphagia, Aspiration pneumonia ORPHA:79264
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Cortisone Reductase Deficiency 1
Obesity, Acne, Precocious puberty OMIM:604931
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphat... OMIM:612462
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Abnorma... ORPHA:48818
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Optic nerve hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Dia... OMIM:609069
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal h... OMIM:115197
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
48,Xxyy Syndrome
Obesity, Hypergonadotropic hypogonadism, Inguinal hernia, Abnormal dental enamel morphology, Chro... ORPHA:10
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Osteopenia, Premature pubarche, Central hyp... ORPHA:398079
Atypical Werner Syndrome
Glycosuria, Sclerosis of hand bone, Osteoporosis, Chondrocalcinosis, Diabetes mellitus, Retinal d... ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:85414
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreas... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose tissue loss, S... OMIM:246200
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Pseudopseudohypoparathyroidism
Obesity, Osteoporosis, Pseudohypoparathyroidism, Enamel hypoplasia OMIM:612463
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity, Pneumonia OMIM:300209
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypogona... ORPHA:2234
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Obesity, Pigmentary retinopathy OMIM:600151
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphat... OMIM:103580
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... ORPHA:860
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Retinal atrophy, Dysphagia, Type II diabetes mellitus, Pancreatiti... ORPHA:412057
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Obesity, Puberty and gonadal disorders ORPHA:464282
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia ORPHA:79312
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Right ventricula... OMIM:616028
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, P... OMIM:615547
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Osteoporosis, Truncal obesity, Failu... ORPHA:73272
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Summitt Syndrome
Camptodactyly of finger, Obesity, Craniosynostosis, Tall stature ORPHA:3210
Urban-Rogers-Meyer Syndrome
Obesity, Osteoporosis, Flexion contracture of toe, Camptodactyly of finger, Increased circulating... ORPHA:3409
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... OMIM:618620
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Mevalonic Aciduria
Splenomegaly ORPHA:29
Cone Dystrophy 3