Gene Summary

Name:
matrix metallopeptidase 15
Synonyms:
Membrane type 2-MMP,  MT2-MMP

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Mmp15tm1b(KOMP)Wtsi HOM Early adult 6.07×10-05
anophthalmia Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal skin coloration Mmp15tm1b(KOMP)Wtsi HOM Early adult 6.53×10-07
absent lymph nodes Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal trachea morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal thyroid gland morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged spleen Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
athymia Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal esophagus morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal pancreas morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote Not available
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

10 Images

Human diseases caused by Mmp15 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.

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

The table below shows human diseases predicted to be associated to Mmp15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... OMIM:619658
Igg4-Related Thyroid Disease
Tracheal stenosis, Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of th... ORPHA:64744
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Diabetes... OMIM:612526
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia OMIM:602450
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... ORPHA:94090
Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Hypocal... ORPHA:83471
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:203330
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, Lymphopenia, Abnormal T cell morphology OMIM:242700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... OMIM:618883
Anaplastic Thyroid Carcinoma
Dysphagia, Goiter, Laryngotracheal stenosis, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodul... ORPHA:142
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... ORPHA:2239
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridem... ORPHA:75234
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Villous atrophy, Iron deficienc... ORPHA:398063
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma ORPHA:99976
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Thyroid Lymphoma
Dysphagia, Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:146200
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:603233
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Matthew-Wood Syndrome
Microphthalmia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophtha... ORPHA:2470
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Xerostomia, Hyperpigmentation of the skin, Gastrointestinal carcinoma, Anemia, Malab... OMIM:175500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Hyperpigmentation of the skin, Anemia, Elev... OMIM:613313
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Neutropenia, Abnormality of the lymphatic system, Hepatitis, Anemia, ... ORPHA:47
Gracile Bone Dysplasia
Microphthalmia, Ascites, Asplenia, Aniridia, Ankyloglossia, Hypocalcemia, Hypoplastic spleen OMIM:602361
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Pituitary null cell adenoma, Mediastinal lymphadenopathy,... ORPHA:97289
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Abnormally large globe, Pancytopenia, Primary gonada... OMIM:210740
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Macroglossia, Increased radioacti... ORPHA:95716
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Macroglossia, Splenomegaly, Hypothyroidism, Hypocalcemia, Cryptorchi... OMIM:618440
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:615524
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Permanent Congenital Hypothyroidism
Goiter, Macroglossia, Hypothyroidism, Thyroid dysgenesis, Jaundice ORPHA:226292
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia OMIM:619073
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy, Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyro... ORPHA:1332
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Ascites, Abnormal lymphatic vessel morphology, Functional abnormality of the gas... ORPHA:90362
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin con... OMIM:615234
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Esophageal varix, Ascites, Bone-marrow foam cells, Anemia, S... ORPHA:75233
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Ascites, Sp... OMIM:235255
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Goiter, Thyroid hypoplasia, Macroglossia, Decreased ci... ORPHA:226316
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Zollinger-Ellison syndrome, Hypercalcemia, Adenoma sebaceum, Increased ci... OMIM:131100
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, High palate, Ascites, Splenomegaly, Ab... ORPHA:1655
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Hurthle ... OMIM:145001
Retinitis Pigmentosa 89
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... OMIM:618955
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Neutropenia in presence o... ORPHA:37042
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Nodu... ORPHA:64743
Pendred Syndrome
Tracheal stenosis, Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism ORPHA:705
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hep... OMIM:278000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly OMIM:618541
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia OMIM:164180
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... OMIM:601346
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, High palate, Hypochromic microcytic anemia ORPHA:96123
Infantile Myofibromatosis
Hypercalcemia, Abnormal intestine morphology, Neoplasm of the pancreas, Intestinal obstruction, I... ORPHA:2591
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... ORPHA:94089
Double Outlet Right Ventricle
Hypoparathyroidism, Cleft palate, Intestinal malrotation, Aplasia/Hypoplasia of the thymus, Hypoc... ORPHA:3426
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Hyperpigmentation of the skin, Hypophosphatemia, Splenomegaly... ORPHA:699
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Microphthalmia, Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter OMIM:180295
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperpho... ORPHA:36913
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gla... ORPHA:417
Parathyroid Carcinoma
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism OMIM:608266
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extr... OMIM:259720
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Timothy Syndrome
Cardiomegaly, Hypothyroidism, Hypocalcemia OMIM:601005
Hyperparathyroidism 4
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma OMIM:617343
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Abnormality of the spleen, Abnormality of mesentery morphology, Tracheoesophag... ORPHA:93941
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... OMIM:601198
Cirrhosis, Familial
Increased level of propylene glycol in blood, Micronodular cirrhosis, Esophageal varix, Jaundice OMIM:215600
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Ascites, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism, Hypoal... OMIM:618183
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Intestinal obstruction, Hypocalcemia, Cryptorc... ORPHA:2323
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia ORPHA:83601
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Macroglossia, Decreased circulating T4 level, Elevated circula... ORPHA:226313
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Hypocalcemic seizures, Decreased response to growth hormone stimul... OMIM:241410
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Congenital Hypothyroidism
Goiter, Macroglossia, Hypogonadism, Intestinal obstruction, Tracheoesophageal fistula, Abnormalit... ORPHA:442
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... OMIM:237800
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Blepharochalasis And Double Lip
Goiter OMIM:109900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Cryptorchidism ORPHA:77298
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia OMIM:600776
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... OMIM:214900
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Anencephaly 2
Median cleft palate, Anophthalmia, Cleft of alveolar ridge of maxilla OMIM:619452
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hypo... ORPHA:562
Meckel Syndrome, Type 8
Anophthalmia, Cleft palate, Microphthalmia OMIM:613885
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Hyperthyroidism, Goiter OMIM:613239
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Ascher Syndrome
Hypothyroidism, High palate, Goiter ORPHA:1253
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Hyperpigmentation of the skin, Hypogonadotropic hypogonadism,... OMIM:602390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia OMIM:248450
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of skin pigmentation, Hyperl... ORPHA:1414
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Goiter, Neoplasm of the adrenal c... ORPHA:163634
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Abnormal abdomen morphology OMIM:275000
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Kerion Celsi
Lymphadenopathy ORPHA:499
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Neoplasm of the small intestine, In... ORPHA:97261
Hydrolethalus
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Tracheal atresia, Cryptorchidism, Submuc... ORPHA:2189
Vipoma
Normochromic anemia, Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes ... ORPHA:97282
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter OMIM:255900
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology OMIM:211000
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia OMIM:259700
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Congenital hypoparathyroidism, Anemia, Hypocalcemia OMIM:244460
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Hypergonadotropic hypogonadism OMIM:606407
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... ORPHA:97283
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Perineal fistula, Microgastria, Hepatomegaly, Microphthalmia, Rectovag... ORPHA:2538
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Hypercholes... OMIM:619662
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Ppoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Prim... ORPHA:97278
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Hypercalcemia, Ascites OMIM:240150
Cowden Syndrome 5
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Thyr... OMIM:615108
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Hyperparathyroidism ORPHA:2668
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Anophthalmia, Splenogonadal fusion, Intestinal mal... OMIM:156810
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Splenomegaly, Portal hypertensio... OMIM:263200
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Hyperpigmentation of the skin, Hypopigmentation of the... ORPHA:158029
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Fanconi Anemia, Complementation Group L
Cleft palate, Microphthalmia, Anemia, Bone marrow hypocellularity, Esophageal atresia, Anal atres... OMIM:614083
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Freckling, Pituitary adenoma, Profuse pigmente... OMIM:160980
Cowden Syndrome 6
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Thyr... OMIM:615109
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Peptic ulcer OMIM:145981
Perlman Syndrome
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Esophageal furrows, Esophagitis, Abnormal peristalsis, Esophageal... ORPHA:411696
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil a... ORPHA:525731
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Ascites, Anemia, Thrombocytopenia ORPHA:2123
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Classic Mycosis Fungoides
Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Spleno... ORPHA:2584
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Increased... OMIM:618892
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly... OMIM:609981
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Primary hyperpar... ORPHA:99879
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosph... OMIM:127000
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Mele... ORPHA:652
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... ORPHA:2198
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Colitis, Hepatitis, Splenomegaly, Increased ci... OMIM:300635
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Albers-Sch├Ânberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Trisomy 13
High, narrow palate, Cleft palate, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, ... ORPHA:3378
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Glycogen Storage Disease Iv
Esophageal varix, Ascites, Cirrhosis, Hepatosplenomegaly, Portal hypertension OMIM:232500
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Esophagea... ORPHA:53035
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Hyponatremia, Normocytic anemia, Hypercalcemia, Celiac dis... ORPHA:199299
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Hematochezia, Intestinal a... OMIM:243150
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Adenomato... ORPHA:733
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Male hypogonadism, Cryptorchidism, Hypermelanotic macule ORPHA:90322
Microphthalmia, Syndromic 5
Cleft palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Ectopic poste... OMIM:610125
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Pancreatitis, Hyperparathyroidism, Hypermagnesemia, Parathyroid adenoma OMIM:145980
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Cowden Syndrome 1
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Ovar... OMIM:158350
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone level, Decreased circulati... OMIM:301035
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Dysphagia, Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulat... ORPHA:89842
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Macroglossia, Abnormal c... ORPHA:90674
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Esophageal a... OMIM:206900
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality of the peritoneum, Int... ORPHA:26790
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophageal varix, Elev... ORPHA:370
Microphthalmia With Brain And Digit Anomalies
High palate, Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Crypto... ORPHA:139471
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Generalized hyperpigmentation, Abnormality of skin pigmentation, Ga... ORPHA:2930
Addison Disease
Androgen insufficiency, Hyperpigmentation of the skin, Adrenal hypoplasia, Type I diabetes mellit... ORPHA:85138
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... ORPHA:90673
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia, Decreased circulat... ORPHA:94086
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancy... ORPHA:79477
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... ORPHA:99832
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia ORPHA:93160
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... OMIM:602347
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Glucagonoma
Normochromic anemia, Increased circulating cortisol level, Primary hyperparathyroidism, Gastroint... ORPHA:97280
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... ORPHA:54251
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Ascites, Hyperp... OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Mastocytosis
Hepatomegaly, Hypercalcemia, Acute leukemia, Abnormality of skin pigmentation, Chronic leukemia, ... ORPHA:98292
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Celiac disease, Iron deficiency anemia, Thyroiditis, Steatorrh... OMIM:212750
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalcemia, Calcinosis, Anemia, ... OMIM:239200
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... ORPHA:210122
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Left ventricular hypertrophy, Cholestasis, Hypocal... ORPHA:746
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:612462
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenal hyp... OMIM:614732
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... ORPHA:480520
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79444
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Thrombocytopenia, J... ORPHA:858
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Secondary hyperparathyroid... ORPHA:289157
Griscelli Syndrome
Hypopigmented skin patches, Hepatomegaly, Pyloric stenosis, Ascites, Leukopenia, Lymphadenopathy,... ORPHA:381
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Hyperparathyroid... OMIM:612089
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hyp... OMIM:147250
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Cardiomegaly, Hypopigmentation of the... OMIM:269920
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Meckel Syndrome
Cleft palate, Microphthalmia, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Anophthalm... ORPHA:564
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Elevated circulating creatine ... ORPHA:264580
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypocalcemia OMIM:607143
Adamantinoma
Hypercalcemia ORPHA:55881
Colchicine Poisoning
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Cartilage-Hair Hypoplasia
Tracheal stenosis, Hepatomegaly, Aganglionic megacolon, Neutropenia, Anemia, Malabsorption, Abnor... ORPHA:175
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Elevated circulating creatin... OMIM:614576
Hennekam Syndrome
Pulmonary lymphangiectasia, Pyloric stenosis, Ascites, Lymphadenopathy, Lymphangioma, Malabsorpti... ORPHA:2136
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly OMIM:121300
Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia ORPHA:2717
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Neoplasm o... ORPHA:83469
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:103580
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia, Neonatal insulin-dependent diabetes m... ORPHA:65288
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix OMIM:617341
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma, Axillary freckling, Cafe-au-lait spot OMIM:171420
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Impaired oxida... OMIM:618935
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Anophthalmia, Cleft palate ORPHA:1104
Methimazole Embryofetopathy
Hypothyroidism, Tracheoesophageal fistula, Esophageal atresia, Abnormality of the thyroid gland ORPHA:1923
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Crypto... ORPHA:3412
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Esophageal atresia OMIM:615272
Walker-Warburg Syndrome
Cleft palate, Abnormal circulating creatine kinase concentration, Microphthalmia, Anophthalmia, B... ORPHA:899
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Abnormal... ORPHA:848
22Q11.2 Deletion Syndrome
Hypopigmented skin patches, Hypoparathyroidism, Cleft palate, Aganglionic megacolon, Microphthalm... ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Pept... OMIM:600740
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Gastrointestinal infarctions, Ne... ORPHA:2869
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Macroglossia, Hyperbiliru... OMIM:218700
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... ORPHA:731
Congenital Respiratory-Biliary Fistula
Abnormality of the liver, Tracheal stenosis ORPHA:2040
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Esophageal varix, Ascites, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal h... ORPHA:367
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Esophageal varix, Polycythemia, Micro... ORPHA:309854
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Dysphagia, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circ... ORPHA:94093
Microphthalmia With Limb Anomalies
Anophthalmia, High palate, Cleft palate, Microphthalmia OMIM:206920
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79443
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Recurrent infection of the gastrointestinal tract OMIM:605258
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Pallister-Hall Syndrome
Cleft palate, Microphthalmia, Decreased response to growth hormone stimulation test, Microglossia... OMIM:146510
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Generalized bronze hyperpigmen... ORPHA:465508
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Leukocytosis, Hyponatremia, Gastrointestinal infarctions, Acute colitis, Intestinal... ORPHA:544482
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Esophageal varix, Splenomegaly OMIM:616028
Craniofacioskeletal Syndrome
Tracheal stenosis, Cleft palate, Absent gallbladder, Hypocalcemia, Cryptorchidism OMIM:300712
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Cowden Syndrome 7
Goiter, Papillary thyroid carcinoma, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinom... OMIM:616858
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... ORPHA:2137
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Pten Hamartoma Tumor Syndrome
Thyroid carcinoma, Multinodular goiter, Freckling, Thyroid adenoma, Colon cancer ORPHA:306498
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphatemia, Parathyroid hyp... OMIM:617994
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, High palate, Leukopenia, Elevated circulating creatine kinase concentration, Second... ORPHA:2785
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Peritoneal abscess, Lymphadenopathy, Functional intestinal obstruc... ORPHA:1333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Cleft palate, Anemia, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Th... ORPHA:163979
Wilson Disease
Hepatomegaly, Hypoparathyroidism, Dysphagia, High nonceruloplasmin-bound serum copper, Esophageal... OMIM:277900
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Splenomegaly, Cirrhosis, Intrahepatic bile duct... OMIM:216360
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... ORPHA:158057
Charge Syndrome
Cleft palate, Duodenal atresia, Decreased response to growth hormone stimulation test, Microphtha... OMIM:214800
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Cerebrooculonasal Syndrome
Anophthalmia, High palate ORPHA:66625
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Increa... OMIM:616050
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Peritonitis, Elevated circulating creatine kinase concentr... ORPHA:36234
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen OMIM:601186
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Unconjugated hyperbilirubinemia, Esophageal varix, Ascites, Bile duct proliferation,... OMIM:613658
Mirage Syndrome
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Leukopenia, Anemia, Achalasia, Esophageal stri... OMIM:617053
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Paraganglioma of head and neck, Pheochromocytoma,... ORPHA:653
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Elevated circulating thyroid... ORPHA:209905
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:182900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Cleft palate, Hypocalcemic seizures, Parathyroid hypoplasia, Diabetes mellitu... ORPHA:2237
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia, Precocious puberty OMIM:615877
Dominant Beta-Thalassemia
Adrenal insufficiency, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenome... ORPHA:231226
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Anemia, Male hypogonadism, Increased blood urea nitrogen, Cryptorchid... ORPHA:90321
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Leukopenia OMIM:615190
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Panc... ORPHA:99880
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Cholera
Hyponatremia, Hypokalemia, Achlorhydria, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cleft palate, Diabetes insipidus, Septo-optic dysplasia, Optic nerve hypoplasi... ORPHA:3157
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Esophageal varix, Portal hypertension, Liver abscess OMIM:600643
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Aganglionic megacolon, Increased circulating cortisol level, Medullary thyroid ... OMIM:171400
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Type I diabet... ORPHA:290
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Holoprosencephaly
Abnormality of the spleen, Hyponatremia, Microphthalmia, Diabetes insipidus, Median cleft lip and... ORPHA:2162
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Hypokalemia, Iron defic... ORPHA:358
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... OMIM:608184
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500