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Gene: Bbs12 MGI:2686651

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Gene Summary

Name:
Bardet-Biedl syndrome 12
Synonyms:
LOC386537,  LOC241950

Order Alleles

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

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

31 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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

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
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Bardet-Biedl Syndrome 11
Hypogonadism, Retinopathy, Obesity OMIM:615988
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Bardet-Biedl Syndrome 10
Hypogonadism, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615987
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Acute pancreatitis, Hypertriglyceridemia, Lipodystr... OMIM:608600
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615983
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity ORPHA:75858
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Pigmentary reti... ORPHA:3363
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod... OMIM:615986
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... ORPHA:369873
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Small for gestational age, Decreased response to growth hormone st... OMIM:275400
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Obesity... ORPHA:791
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... OMIM:617119
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration OMIM:615982
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration OMIM:256730
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Polyphagia OMIM:614962
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... ORPHA:324575
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, T... ORPHA:3085
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Alg6-Cdg
Puberty and gonadal disorders, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Incre... ORPHA:79320
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Eczema, Obesity ORPHA:3055
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... OMIM:300310
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia ORPHA:88643
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Retinal degenera... OMIM:602271
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Obesity, Retinal degeneration, Dysphagia OMIM:604360
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Narcolepsy Type 1
Obesity ORPHA:2073
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615984
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc... ORPHA:254531
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Senior-Loken Syndrome 9
Osteopenia, Retinal dystrophy, Obesity, Macular degeneration, Tubulointerstitial nephritis, Hypog... OMIM:616629
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Decreased retinol-binding pr... OMIM:615147
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity OMIM:616756
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Mucolipidosis Iv
Optic atrophy, Hypergastrinemia, Retinal degeneration OMIM:252650
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis OMIM:602390
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Hyperglyc... OMIM:619737
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog... OMIM:615994
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Dorsocervical fat pad, Paradoxical increased cortisol sec... ORPHA:189427
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Acne, Dorsocervical fat pad, Adrenal hyperplasia, Osteoporosis, In... OMIM:615830
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... OMIM:608612
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Optic atrophy, Hyperammonemia, Dysphagia, Rod-cone dystrophy, Paroxys... ORPHA:391428
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Oral-pharyngeal dysphagia, Chronic otitis media, Obesity ORPHA:480907
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy, Obesity OMIM:605231
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Acute pancreatitis, Hypertrigly... OMIM:608594
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Optic atrophy, Obesity OMIM:614651
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Chronic a... OMIM:203800
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Retinal degeneration OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Acute pancreatitis, Hypertrigly... OMIM:269700
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Obesity, Type II diabetes mellitus, Abnormal circulating lipid concentration ORPHA:3191
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... OMIM:277700
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... OMIM:235200
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615985
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Obesity, Retinal degeneration OMIM:615630
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Angioi... OMIM:239000
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Os... OMIM:248370
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia OMIM:164500
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Abnormal repetitive m... ORPHA:79264
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu... OMIM:270200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity ORPHA:363741
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615996
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity OMIM:601794
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puber... ORPHA:633
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... OMIM:610628
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Hypercalcemia, Craniosynostosis, Abnormal dental enamel... ORPHA:251004
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Inflammatory abnormality ... ORPHA:816
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital stationary night blindness, Obesity, Congenital hypothyroidism ORPHA:352530
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Osteoporosis, ... ORPHA:398079
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo... OMIM:612462
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal... ORPHA:73272
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis OMIM:616719
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Distal 16P11.2 Microdeletion Syndrome
Retinal dystrophy, Aganglionic megacolon, Obesity, Hyperuricemia, Attention deficit hyperactivity... ORPHA:261222
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Eczema, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Ski... OMIM:600430
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypot... ORPHA:819
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Advanced ossification of carpal bones, Obesity, Congenital hypo... OMIM:614613
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Joubert Syndrome 33
Splenomegaly OMIM:617767
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Non-Specific Early-Onset Epileptic Encephalopathy
Impulsivity, Optic atrophy, Attention deficit hyperactivity disorder, Failure to thrive, Retinal ... ORPHA:442835
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self h... OMIM:182290
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Subcutaneous ossification, El... OMIM:103580
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re... ORPHA:79474
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Obesity OMIM:604931
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco... OMIM:209900
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Summitt Syndrome
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity ORPHA:3210
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Aceruloplasminemia
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... ORPHA:48818
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabet... ORPHA:412057
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Advanced ossification of carpal bones, Obesity, Truncal obesity... OMIM:618363
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Osteoporosis, Obesity, Pseudohypoparathyroidism OMIM:612463
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... OMIM:246200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Retinal dystrophy, Obesity ORPHA:464282
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Atopic dermatitis, Camptodactyly, Chroni... ORPHA:412035
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Obesity, Hypogonadism, Fl... ORPHA:3409
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Abnor... ORPHA:778
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH ... OMIM:219090
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Atopic dermatitis, Obesity ORPHA:397973
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Osteoporosi... ORPHA:398069
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Rod-cone dystrophy, Obesity OMIM:615633
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Atopic dermatitis, Obesity OMIM:606772
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Nephronophthisis 14
Retinal degeneration OMIM:614844
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Maternal diabetes, ... ORPHA:3157
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Cholangitis, Overweight, Obesity, Sclerosing cholangitis, Cholecystitis, Hyper... ORPHA:69663
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration ORPHA:370022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Small for gestational age, Elevated circulating creatine ki... ORPHA:26793
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... OMIM:145350
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Type I diabetes mellitus, Recurrent aphthous stomatitis, Chronic oral candidiasis,... OMIM:301078
19P13.12 Microdeletion Syndrome
Hyperactivity, Craniosynostosis, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beha... ORPHA:254346
Trisomy 5P
Obesity ORPHA:1742
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin-resistant diabete... OMIM:269880
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Diabetes melli... ORPHA:412
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th... ORPHA:290
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Delayed epiphyseal... ORPHA:91
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Pigmentary ... ORPHA:157850
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Elevated circulating creatine kinase concentration, Retinal degeneration OMIM:615249
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... ORPHA:398124
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity, Craniosynostosis ORPHA:171839
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Aggressive behavior, Rod-... OMIM:616364
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Bloom Syndrome
Diabetes mellitus, Skin rash, Pneumonia, Small for gestational age, Adipose tissue loss, Insulin ... ORPHA:125
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Obesity, Periodontitis, Type I diabetes mellitus, Retinopathy, De... OMIM:619269
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Idiopathic Intracranial Hypertension
Papilledema, Obesity ORPHA:238624
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... ORPHA:829
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Craniosynostosis, Abnormality of the endocrine system, Rod-cone dystrophy, Retin... ORPHA:166035
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Angelman Syndrome
Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thru... ORPHA:72
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c... OMIM:175700
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Scheie Syndrome
Retinal degeneration OMIM:607016
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... ORPHA:3041
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Luscan-Lumish Syndrome
Aggressive behavior, Advanced ossification of carpal bones, Obesity, Overgrowth, Recurrent otitis... OMIM:616831
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Cheilit... ORPHA:247353
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Diabetes mell... ORPHA:96253
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger ORPHA:2928
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Abetalipoproteinemia
Retinopathy, Abetalipoproteinemia, Retinal degeneration OMIM:200100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Obesity, Abno... ORPHA:163681
Perrault Syndrome 4
Increased circulating gonadotropin level, Osteoporosis, Obesity, Disproportionate tall stature, H... OMIM:615300
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... ORPHA:91355
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive mannerisms, R... ORPHA:168491
Refsum Disease, Classic
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal degeneration OMIM:266500
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79444
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Eczema, Aggressive behavior, Obesity OMIM:620191
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Essential Fructosuria
Hyperglycemia ORPHA:2056
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Chorioretinal c... ORPHA:2563
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... ORPHA:2088
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Eczema, Obesity ORPHA:464288
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Elevated amniotic fluid alpha-fetoprotein,... ORPHA:96179
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... OMIM:615418
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Fle... OMIM:609069
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy, Increased serum beta-hexosaminidase, Craniosynostosis OMIM:252600
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Craniosynostosis, Aggressive behavior OMIM:619056
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Inguinal hernia, Hyperactivity, Aggressive behavior, Hypersexuality, F... ORPHA:581
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79443
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Optic atrophy, Hyperam... ORPHA:79282
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Prader-Willi Syndrome
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... ORPHA:739
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Axial Spondylometaphyseal Dysplasia
Osteopenia, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Delayed ossificati... ORPHA:168549
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Flexion contracture, Osteoporosis, Osteolysis, Rib osteolysi... OMIM:614008
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Baralle-Macken Syndrome
Obesity OMIM:619255
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t... OMIM:620155
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Prader-Willi Syndrome
Osteopenia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to gr... OMIM:176270
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Carpenter Syndrome 1
Omphalocele, Sagittal craniosynostosis, Precocious puberty, Optic atrophy, Obesity, Lambdoidal cr... OMIM:201000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Hyperactivity, Impulsivity, Ag... ORPHA:580
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... OMIM:619312
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Bardet-Biedl Syndrome 20
Papilledema, Obesity, Male hypogonadism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-c... OMIM:619471
Hurler Syndrome
Inguinal hernia, Cranial hyperostosis, Flexion contracture, Recurrent otitis media, Hernia, Calva... OMIM:607014
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Carpenter Syndrome
Umbilical hernia, Obesity, Craniosynostosis ORPHA:65759
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy OMIM:252900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Cockayne Syndrome
Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, C... ORPHA:191
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... OMIM:227810
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Overweight, Obesity, Dysphagia, Retinal degeneration ORPHA:2822
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Attention deficit hyperactivity disorder, Truncal obesity, Congenital diaphragm... ORPHA:284180
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
2Q37 Microdeletion Syndrome
Eczema, Congenital diaphragmatic hernia, Obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:1001
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c... ORPHA:90041
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Felty Syndrome
Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocell... ORPHA:47612
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Down Syndrome
Aganglionic megacolon, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism ORPHA:870
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Myocarditis, Obesity, Increased circulating... ORPHA:563
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Decreased circulating antibody level, Overgrowth, Recurrent o... OMIM:605309
Joubert Syndrome 6
Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma OMIM:610688
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral aversion, Hyp... ORPHA:134
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Recurrent otitis media, R... OMIM:619680
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Wagr Syndrome
Obesity ORPHA:893
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Attention deficit hyperactivity disor... ORPHA:261197
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Inguinal hernia, Hyperactivity, Eczema, Large for gestational age, Attention defic... OMIM:607721
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Macrophage Activation Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy OMIM:300842
Say-Barber-Miller Syndrome
Eczema, Craniosynostosis, Erythema nodosum, Rod-cone dystrophy, Transient hypogammaglobulinemia o... ORPHA:3132
Mannosidosis, Alpha B, Lysosomal
Inguinal hernia, Retinal degeneration, Decreased circulating antibody level OMIM:248500
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Recurrent pneumonia, Elbow flexion contracture, Optic atrophy, Obesity OMIM:618493
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity ORPHA:439822
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia OMIM:608013
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Müllerian Aplasia And Hyperandrogenism
Acne, Obesity, Increased serum testosterone level ORPHA:247768
Desbuquois Dysplasia 1
Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsal ossification... OMIM:251450
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Obesity, Dysphagia, Decreased body weight ORPHA:589821
Momo Syndrome
Overgrowth, Retinal coloboma, Obesity OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Delayed epip... ORPHA:485
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Left vent... ORPHA:79330
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Craniosynostosis,... ORPHA:96121
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Adiposis Dolorosa
Hypothyroidism, Arthritis, Recurrent skin infections, Obesity ORPHA:36397
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A... ORPHA:3008
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... OMIM:619229
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Chronic otitis media, Abnormal rep... ORPHA:261494
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Cholecystitis, Recurrent otitis m... OMIM:301066
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Dysphagia OMIM:619780
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly OMIM:616897
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Cholestasis, Lym... OMIM:615895
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:615453
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... ORPHA:193
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal auditory evoked p... OMIM:216400
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Obesity, Pineal cyst, Abnormal cir... ORPHA:98908
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Meningioma
Papilledema, Decreased circulating cortisol level, Enlarged pituitary gland, Hypogonadotropic hyp... ORPHA:2495
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration, Craniosynostosis OMIM:250410
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen... ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma OMIM:212550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Increased LDL cholesterol concentration, Hypercholester... ORPHA:209902
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Joubert Syndrome 37
Obesity OMIM:619185
Megalencephaly
Truncal obesity ORPHA:2477
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Shox-Related Short Stature
Obesity ORPHA:314795
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Farber Disease
Flexion contracture, Osteoporosis, Macular degeneration, Arthritis, Cherry red spot of the macula... ORPHA:333
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Obesity ORPHA:96168
Distal Deletion 12Q
Late onset atopic dermatitis, Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Mat... ORPHA:96149
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:264580
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Chronic hepa... ORPHA:3260
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Obesity ORPHA:174
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive... ORPHA:160
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Optic atrophy, Obesity, Hypogonadism OMIM:614231
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Nephronophthisis 11
Polydipsia, Retinal degeneration OMIM:613550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O... ORPHA:79240
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Obesity OMIM:617296
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... OMIM:236670
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat... OMIM:120330
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... OMIM:615926
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Compulsive behaviors OMIM:618443
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Inguinal hernia, Optic atrophy, Obesity OMIM:614947
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Congenital Myopathy 9A
Obesity OMIM:618822
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615989
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Otitis media, Chorioretinal coloboma, Compulsive behaviors, Abnormal repetitive mannerisms,... OMIM:619475
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, R... ORPHA:478
Fucosidosis
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Macular degeneration, Dysphag... ORPHA:94147
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Bronchiectasis, Macular atrophy OMIM:615434
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital diaphragmatic h... ORPHA:116
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Flexion contracture, Hepatitis, Steatorrhea, Postprandial hyperglycemia, Arthrog... ORPHA:440713
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology,... ORPHA:2785
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Inflammatory abnormality of the skin, Failure to thrive, Increased circ... OMIM:610768
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Aggressive behavior, Tongue thrus... ORPHA:369950
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Flexion contracture, Retinal hemorrhage, K... ORPHA:90324
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Optic atrophy, Phonic tics, Pigmentary retinopathy, Obsessive-compulsive trait, Dy... OMIM:234200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Nephritis, Early ossification of capital femoral epiphyses, Retina... OMIM:208500
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Acne, Abnormal dental enamel morphology, Ag... ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... OMIM:608836
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Delayed ossification of carpal bones, Obesity OMIM:618395
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Polycythemia Vera
Myelofibrosis, Weight loss ORPHA:729
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99228
Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99226
Turner Syndrome
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:881
Chops Syndrome
Optic atrophy, Obesity, Aspiration pneumonia OMIM:616368
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Abnor... ORPHA:353281
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Craniosynostosis ORPHA:251038
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Abnormal repe... OMIM:615873
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac... ORPHA:466950
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Osteoarthritis, Absence of subcutaneous fat, Insulin... ORPHA:740
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... ORPHA:247234
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Abdominal obesity,... OMIM:619321
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Camptodactyly of finger, Delayed puberty, Obesity ORPHA:3138
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Adnp Syndrome
Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Compulsive beha... ORPHA:404448
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Cholangitis, Rod-cone dystrophy, Tubulointerstitial nephritis, Re... OMIM:124000
Primrose Syndrome
Hip contracture, Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... OMIM:259050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Hypoplasia of... OMIM:253280
Williams-Beuren Syndrome
Osteopenia, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Reti... OMIM:194050
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration, Aggressive behavior OMIM:618479
Achondroplasia
Obesity ORPHA:15
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Osteoporosis, Intraalveolar phosphol... OMIM:222700
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Acne, Parathyroid agenesis, Seborrheic dermatitis, Decreased cir... OMIM:188400
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy, Bilateral wrist flexion contracture, Congenital contracture, Seve... ORPHA:97297
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis OMIM:187900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Failure to thrive, Retinal dystrophy, Cholangitis, Craniosynostosis, Macular degenera... OMIM:266920
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Optic atrophy, Obesity, Ocular albinism, Polyphagia, Sel... ORPHA:1606
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Hepatic... ORPHA:14
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Monosomy 22Q13.3
Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Bruxism, Umbilical hernia, Recur... ORPHA:48652
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Alport Syndrome
Macular degeneration, Retinal flecks, Nephritis, Dysphagia ORPHA:63
Williams Syndrome
Osteopenia, Increased bone mineral density, Inguinal hernia, Failure to thrive in infancy, Hyperc... ORPHA:904
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastom... OMIM:130650
White-Kernohan Syndrome
Recurrent otitis media, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Xylt1-Cdg
Truncal obesity, Acne ORPHA:370930
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Optic disc colob... OMIM:607872
Desbuquois Dysplasia 2
Truncal obesity, Advanced ossification of carpal bones OMIM:615777
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Seborrheic dermatitis, Flexion contracture, Truncal obesity, Aspiration p... OMIM:301072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Aspiration pneumonia, Hyperglycem... ORPHA:444077
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Recurrent otitis media, Obesity OMIM:250420
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly ORPHA:137675
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... OMIM:600001
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Recurrent otiti... ORPHA:1772
Scorpion Envenomation
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Myocarditis, Gly... ORPHA:466677
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Optic disc coloboma, Pseudohypoparathyroidism, Obesity, Failure to thrive OMIM:617157
Carney Complex
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... ORPHA:1359
Witteveen-Kolk Syndrome
Inguinal hernia, Hyperactivity, Small for gestational age, Eczema, Congenital diaphragmatic herni... OMIM:613406
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesi... ORPHA:353277
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... ORPHA:70591
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thromboc... OMIM:256040
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Small for gestational age, Hypoglycemia, Hyperammonemia, Dysphagia, Hyperglycemi... OMIM:220111
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Rubinstein-Taybi Syndrome 1
Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Flexion contracture, ... OMIM:180849
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Optic atrophy, Obesity, Hypogonadism, Paroxysmal bursts of laughter OMIM:309580
Carpenter Syndrome 2
Craniosynostosis, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Attention deficit hyperactivity disorder, Compu... ORPHA:199
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Te... ORPHA:3472
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... OMIM:601803

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 Bbs12

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 Bbs12.

No publications found that use IMPC mice or data for Bbs12.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Bbs12em1(IMPC)Ccpcz Inter-exon deletion Mice, Tissue
Bbs12tm213523(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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