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Gene: Mmp15 MGI:109320

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
abnormal thyroid gland morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
absent lymph nodes Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal skin coloration Mmp15tm1b(KOMP)Wtsi HOM Early adult 4.64×10-07
anophthalmia 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 pancreas morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal esophagus morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal trachea morphology Mmp15tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating calcium level Mmp15tm1b(KOMP)Wtsi HOM Early adult 6.07×10-05

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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 Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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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, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalc... OMIM:612526
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:203330
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... ORPHA:142
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... ORPHA:75234
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... ORPHA:398063
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Pendred Syndrome
Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Microphthalmia OMIM:615524
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hyperpigmentation of the skin, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, ... OMIM:175500
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:603233
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl... ORPHA:2470
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Hemochromatosis, Type 2B
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Malabsorption, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:47
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Bangstad Syndrome
Pancytopenia, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonadal insuff... OMIM:210740
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Functiona... ORPHA:90362
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Macroglossia, Protein-losing enteropat... OMIM:618440
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Abnormal liver parenchyma morphology, Ph... ORPHA:1332
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre... ORPHA:75233
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... ORPHA:100083
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbuminemia, Hypocalcemia,... ORPHA:37042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ... ORPHA:1655
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... OMIM:278000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Bifid uvula, A... OMIM:620186
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... OMIM:275000
Monosomy 22
High palate, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Tracheoesophageal fistula, Abnor... ORPHA:2591
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Cleft palate OMIM:164180
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Hypocalcemia ORPHA:1438
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Neonatal hyperbilir... ORPHA:90673
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:417
Double Outlet Right Ventricle
Hypoparathyroidism, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Hypocalcem... ORPHA:3426
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:36913
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tracheal ste... ORPHA:93941
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia ORPHA:75563
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia ORPHA:77298
Sanjad-Sakati Syndrome
Hypoparathyroidism, Intestinal obstruction, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Cong... ORPHA:2323
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... ORPHA:562
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Ascher Syndrome
High palate, Hypothyroidism, Goiter ORPHA:1253
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Blepharochalasis And Double Lip
Goiter OMIM:109900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi... OMIM:214900
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati... OMIM:603552
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hydrolethalus
Tracheal atresia, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microp... ORPHA:2189
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Eso... ORPHA:2538
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Kerion Celsi
Lymphadenopathy ORPHA:499
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... ORPHA:79445
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Cleft palate, Enlarged kidney OMIM:613885
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat... OMIM:619662
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Blue Diaper Syndrome
Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615108
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Vipoma
Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Intermittent ja... ORPHA:97282
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, Reduced serum alpha-1-antitrypsin OMIM:613490
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anencephaly 2
Anophthalmia, Median cleft palate OMIM:619452
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... ORPHA:94089
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Cardiomegaly OMIM:601005
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia, Anemia ORPHA:2668
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615109
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... OMIM:617341
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... OMIM:609981
Ppoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97278
Pediatric-Onset Graves Disease
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse ... ORPHA:525731
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy ORPHA:42642
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Sea-Blue Histiocytosis
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... ORPHA:158029
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dysphagia, Anemia,... ORPHA:89842
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ... OMIM:127000
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Spotty hyperpigmentation, Leukemia, Histiocytosis ORPHA:157991
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... OMIM:264700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hyperpigmentat... ORPHA:2584
Glycogen Storage Disease Iv
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis, Ascites OMIM:232500
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, H... ORPHA:199299
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:158350
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, High palate, Hypocalcemia, Gastroesophageal ... OMIM:617913
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... ORPHA:26790
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Celiac disease, Thyroiditis, Steatorrhea, Iron deficiency anemia, Hypocalcemia... OMIM:212750
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Generalized hyperpigmentation, Malabsorption, Splenomegaly, F... ORPHA:2930
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Hypermelanotic macule, Cryptorchidism, Male hypogonadism ORPHA:90322
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenop... ORPHA:79477
Trisomy 13
Anophthalmia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia/Hypoplasia of the iris, ... ORPHA:3378
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... ORPHA:139471
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T... ORPHA:90674
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,... ORPHA:858
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... OMIM:239200
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... ORPHA:26793
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Familial Isolated Hyperparathyroidism
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... ORPHA:99879
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hennekam Syndrome
Lymphopenia, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymphangiectasia, Lymphaden... ORPHA:2136
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic stea... ORPHA:746
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... ORPHA:289157
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Eso... OMIM:614576
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Malabsorption, Sp... ORPHA:379
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Hypocalcemia, Ne... ORPHA:175
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, ... ORPHA:564
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypoalbuminemia, Cirrhos... ORPHA:367
Anophthalmia Plus Syndrome
Anophthalmia, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Esophageal atresia, Hypothyroidism, Tracheoesophageal fistula ORPHA:1923
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... OMIM:300400
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Adamantinoma
Hypercalcemia ORPHA:55881
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal... ORPHA:3412
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... OMIM:618935
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Pheochromocytoma--Islet Cell Tumor Syndrome
Axillary freckling, Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia OMIM:171420
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Anal atresia, Gastrointestinal hemorrhage, Hyperthyroidism, Aganglionic megac... ORPHA:567
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal circulating cre... ORPHA:899
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... OMIM:612089
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... ORPHA:65288
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... OMIM:103580
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hyp... OMIM:614732
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft palate, High palate, Microphthalmia OMIM:206920
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... ORPHA:94093
Trisomy 1Q
Cryptorchidism, Anophthalmia, Anal atresia, Cleft palate ORPHA:261344
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopeni... OMIM:617053
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, Esophageal varix, H... OMIM:216360
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... ORPHA:2137
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Cerebrooculonasal Syndrome
Anophthalmia, High palate ORPHA:66625
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Cholestasis, Bile du... OMIM:613658
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ... ORPHA:3157
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... OMIM:215600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Acute colitis, Intestinal perforation, Leukocy... ORPHA:544482
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia OMIM:616553
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:616050
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Hypermelanotic ma... ORPHA:1775
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Hypermelanotic macule, Cryptorchidism, Increased blood urea nitrogen,... ORPHA:90321
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Cleft palate, Hypocalcemia, Tracheal stenosis OMIM:300712
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... ORPHA:1333
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypocalcemia OMIM:607143
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... ORPHA:36234
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... OMIM:619750
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Cholera
Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Aceruloplasminemia
Refractory anemia, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decrease... ORPHA:48818
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... OMIM:617994
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Cleft palate, Anemia, Hypocalcemia, Hyperbilirubinemia, Trach... ORPHA:163979
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia,... ORPHA:653
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Par... OMIM:214800
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Freckling, Multinodular goiter, Hypermelanotic macule, Hypomelanotic macule OMIM:618373
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... OMIM:614700
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... ORPHA:84064
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Anemia, Dysphagia, Abnormal esophagus m... OMIM:226600
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypoplasia, Hypocalcemia, Hypoca... ORPHA:2237
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... OMIM:206900
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Steatorrhea, Hematoche... OMIM:613812
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Plummer-Vinson Syndrome
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... ORPHA:54028
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Diabetes insipidus, Anophthalmia, Median cleft lip and palate, C... ORPHA:2162
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... OMIM:608184
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplastic spleen OMIM:601186
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Esophageal stricture, Reticular hyp... OMIM:224230
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... OMIM:615688
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cl... OMIM:192430
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Thrombocytop... OMIM:188400
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea OMIM:235555
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Iron deficiency ane... ORPHA:358
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Hypo... ORPHA:201
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... ORPHA:85450
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepatic steatosis, Hypoparath... OMIM:277900
Autosomal Dominant Hypocalcemia
Irregular hyperpigmentation, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, ... OMIM:614034
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hepatic calcification, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Thyroid Ectopia
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism ORPHA:95712
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... ORPHA:99880
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... ORPHA:275761
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Delayed puberty, Neutropenia, In... OMIM:232220
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Leukopenia, H... OMIM:613989
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Esophageal atresi... OMIM:227646
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Hypothyroi... OMIM:243800
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... ORPHA:29073
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Esoph... ORPHA:84081
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... ORPHA:143
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... OMIM:304790
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Abnormal lymphocyte mor... ORPHA:3162
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged l... ORPHA:449432
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hyp... ORPHA:95409
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplastic anemia, Esophageal atresia, Trach... OMIM:300514
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, Hepatitis, Intesti... ORPHA:436252
Nephroblastoma
Aniridia, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Acitretin/Etretinate Embryopathy
High palate, Aplasia/Hypoplasia of the optic nerve, Hypoplasia of the thymus, Median cleft palate ORPHA:40366
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly... ORPHA:39041
Aspergillosis
Eosinophilia, Hepatitis, Abnormal esophagus morphology, Neutropenia ORPHA:1163
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, ... ORPHA:93325
Non-Syndromic Posterior Hypospadias
Abnormality of the endocrine system, Cryptorchidism, Esophageal atresia, Cleft palate, Anal atres... ORPHA:95706
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, E... OMIM:162300
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Submucous cleft hard palate, Neoplasm of th... ORPHA:3047
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... ORPHA:79456
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia OMIM:613706
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Microphtha... ORPHA:2250
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Isotretinoin-Like Syndrome
Lymphopenia, Gastroesophageal reflux, Hypocalcemia, Cleft palate ORPHA:2306
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... OMIM:606367
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma ORPHA:94080
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine kinase concentration, Abnormali... ORPHA:254892
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Colorectal polyposis, ... ORPHA:276399
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Felty Syndrome
Hepatomegaly, Generalized hyperpigmentation, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bon... ORPHA:47612
Joubert Syndrome 21
Splenomegaly, Anophthalmia, Dysphagia OMIM:615636
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... ORPHA:677
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute l... ORPHA:99812
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Hypocalcemia ORPHA:31826
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocy... OMIM:603553
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... ORPHA:30391
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... ORPHA:1018
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Malabsorp... ORPHA:3452
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J... OMIM:214500
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Malabsorp... OMIM:557000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid... ORPHA:264200
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A... ORPHA:160
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Few cafe-au-lait spots, Hemolytic anemia, Decreased response to growth hormone stimulation test, ... OMIM:619503
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Branchiootorenal Syndrome 1
Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, Bifid uvula OMIM:113650
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Hypoplasia... OMIM:214110
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Peritonitis, Recurrent tonsillitis, Cervical lymphadenopath... ORPHA:2686
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Hyperpigmented streaks, Thyroid C cell hyperplasia OMIM:300952
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ... ORPHA:829
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Fanconi Anemia, Complementation Group L
Anal atresia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellul... OMIM:614083
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati... ORPHA:540
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... OMIM:260370
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Irreg... ORPHA:2969
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, High, narrow palate, Hepatic fibrosis, Hy... OMIM:218330
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... ORPHA:1318
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... OMIM:619644
Treacher-Collins Syndrome
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Abnormality of the adrenal... ORPHA:861
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate OMIM:614526
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia, High, narrow palate ORPHA:1101
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia ORPHA:3386
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia OMIM:615877
Cutaneous Mastocytoma
Hypermelanotic macule, Hyperpigmentation of the skin, Lymphadenopathy ORPHA:79455
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal rectum morph... ORPHA:2556
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le... OMIM:615895
Atelosteogenesis Type I
Malrotation of colon, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Jung Syndrome
Tracheal stenosis, Hypothyroidism ORPHA:2321
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... OMIM:300908
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Cafe-au-lait spot, Du... OMIM:619227
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Microphthalmia, Anal atresia OMIM:617666
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot... ORPHA:252164
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Fraser Syndrome 1
Abnormal small intestine morphology, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Clef... OMIM:219000
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... OMIM:617941
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Tracheal stenosis OMIM:607015
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, T... OMIM:230800
Papa Syndrome
Type I diabetes mellitus, Crohn's disease, Lymphadenopathy ORPHA:69126
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia, Delayed puberty, Enlarge... ORPHA:251004
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... ORPHA:116
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Vacterl/Vater Association
Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Anorectal anomaly, T... ORPHA:887
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt... OMIM:612541
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Focal Dermal Hypoplasia
Linear hyperpigmentation, Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hern... OMIM:305600
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tra... ORPHA:138
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Pheochromocytoma
Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia OMIM:171300
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Enlarged kidney OMIM:314390
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enl... ORPHA:79078
Holoprosencephaly-Postaxial Polydactyly Syndrome
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Abnorma... ORPHA:2166
Sarcoidosis
Increased T cell count, Leukopenia, Hypopigmentation of the skin, Hypothyroidism, Hepatomegaly, H... ORPHA:797
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Legionnaires Disease
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... ORPHA:549
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Narrow palate, High palate OMIM:605627
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal ... ORPHA:139411
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros... OMIM:616263
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism ORPHA:42775
Hereditary Chronic Pancreatitis
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,... ORPHA:676
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Tracheal stenosis, Microphthalmia, Anal atresia ORPHA:3301
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t... ORPHA:98813
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Fraser Syndrome
Anal stenosis, Anophthalmia, Cryptorchidism, Ectopic anus, High palate, Tracheal stenosis, Microp... ORPHA:2052
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... ORPHA:774
Poems Syndrome
Diabetes mellitus, Hyperpigmentation of the skin, Abnormality of the endocrine system, Hypothyroi... ORPHA:2905
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hyperpigmentation of the skin, Microcytic anemia, Malabs... ORPHA:168569
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Increased mean platelet volume, Splenomegaly, Abnormality of the p... OMIM:222470
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... OMIM:229850
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Mediastinal... ORPHA:809
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Rieger anomaly, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus OMIM:617022
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Acu... OMIM:208900
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... ORPHA:822
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... ORPHA:369837
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein OMIM:226730
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... ORPHA:3261
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Hypercalcemia ORPHA:96168
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Ascites ORPHA:36412
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating alpha-fetoprote... OMIM:276700
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gastroesopha... OMIM:605039
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Hepato... ORPHA:2072
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, A... ORPHA:171
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... OMIM:619418
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas... ORPHA:93111
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Jaundice, Increased ... OMIM:263700
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Cafe-au-lait spot, Cleft soft palate OMIM:620183
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate OMIM:618779
Branchiooculofacial Syndrome
Anophthalmia, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Dupli... OMIM:113620
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Microphthalmia, A... OMIM:617925
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Cleft palate... OMIM:607932
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dysphagia, Spotty hyperpigmentation,... OMIM:173650
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Dysphagia OMIM:616029
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Normocytic anemia, Decreased circulating copper concentration, Sp... OMIM:300972
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,... OMIM:617591
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... OMIM:265380
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus... OMIM:613177
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Optic nerve hypoplasia, High palate, Hypocalcemia, Bifid uvula OMIM:620330
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Hypopigmentation... ORPHA:167
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... OMIM:277440
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Elevated ci... ORPHA:50918
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Adrenal insufficiency, Dysphagia OMIM:615510
Microphthalmia, Syndromic 2
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Adrenal insufficiency, Microphthalmia,... OMIM:300166
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Chronic Graft Versus Host Disease
Pancytopenia, Esophageal stricture, Xerostomia, Abnormality of skin pigmentation, Abnormal esopha... ORPHA:99921
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal inflammation, ... ORPHA:39812
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Hyperpigment... ORPHA:293173
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis, Esophagitis ORPHA:3348
Jacobsen Syndrome
Cryptorchidism, Pyloric stenosis, Macular hypoplasia, Microphthalmia, Annular pancreas, Thrombocy... OMIM:147791
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Hypermelanotic macule, Elevated circulating C-reactive protein concentrat... ORPHA:32960
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hyperpigmentation of the skin, Reticulated skin pigmentatio... OMIM:305000
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Lymphadenopathy ORPHA:2483
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, High, narrow ... ORPHA:96149
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... ORPHA:33226
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... OMIM:208500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypopigmented skin patches, Hypogonadis... ORPHA:163746
Familial Mediterranean Fever
Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Gast... ORPHA:342
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Furrowed tongue, High palate, Gastroesophageal reflux, Multiple cafe-au-lait spot... OMIM:616975
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Esophageal stricture, High palate, Neutropenia, Lymphopenia OMIM:615816
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Hypercalcemia ORPHA:476126
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Immunodeficiency 12
Esophageal stricture, Abnormal lymphocyte count OMIM:615468
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary cirrhosis,... OMIM:613471
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Hypopigmented skin patches, Multiple cafe-au-lait spots, Tracheal stenosis, A... ORPHA:2637
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula ORPHA:87
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter, Adenocarcinoma of the colon OMIM:620189
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular h... ORPHA:90041
Spondyloenchondrodysplasia With Immune Dysregulation
Hypermelanotic macule, Autoimmune thrombocytopenia, Lymphadenopathy, Hypopigmented skin patches o... OMIM:607944
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu... OMIM:619381
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hepatomegaly, Hypocalcemic seizures, Anemia OMIM:612301
Microphthalmia With Limb Anomalies
Cryptorchidism, Cleft palate, High palate, Microphthalmia, True anophthalmia ORPHA:1106
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... ORPHA:100078
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Anteriorly placed anus, Hypogonadism, High palate, Microphthalmia, Annular pancreas OMIM:268400
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Hypomagne... OMIM:219800
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ... ORPHA:36426
Arima Syndrome
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Trisomy 18
Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Microphthalmia, Anal atresia ORPHA:3380
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... ORPHA:284
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate ORPHA:394
Jacobsen Syndrome
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Duodenal atresia, Ectopic anus, Bone ma... ORPHA:2308
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption ORPHA:289176
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Cryptorchidism, Anteriorly placed anus, Cleft palate OMIM:217980
Proboscis Lateralis
Microphthalmia, Anophthalmia, High palate, Optic nerve hypoplasia ORPHA:141099
Kindler Epidermolysis Bullosa
Esophageal stricture, Abnormality of skin pigmentation, Inflammation of the large intestine, Coli... ORPHA:2908
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:302960
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Stomach cancer, Autoimmune thrombocytopenia, Lympha... ORPHA:331235
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... OMIM:263520
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ... OMIM:619534
Eec Syndrome
Decreased response to growth hormone stimulation test, Xerostomia, Cleft palate, Hypoplasia of th... ORPHA:1896
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Stüve-Wiedemann Syndrome
Hypothyroidism, Smooth tongue, Ectopic thyroid ORPHA:3206
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, High palate OMIM:618162
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Apert Syndrome
Cryptorchidism, Esophageal atresia, Pyloric stenosis, Narrow palate, Cleft palate, Ectopic anus, ... OMIM:101200
Igg4-Related Ophthalmic Disease
Cholangitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal... ORPHA:449563
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate ORPHA:1790
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Williams Syndrome
Colonic diverticula, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... ORPHA:904
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Pyloric stenosis, Abnormality of the l... ORPHA:1606
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... ORPHA:77293
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Gastroesophageal reflux, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... ORPHA:781
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Hypoam... ORPHA:556955
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Bifid uvula, Hypogonadotropic hypogonadism, Tracheoesophageal fistula OMIM:301030
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:264450
Frontometaphyseal Dysplasia 2
Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, High... OMIM:617137
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Pallister-Hall Syndrome
Thyroid hypoplasia, Anal atresia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenoc... ORPHA:672
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Abnormal circulating selenium concentration, Dysphagia, Gastrointestinal inflammati... ORPHA:79408
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality of the gallbladder, Bifid to... ORPHA:818
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow palate, Pylori... OMIM:309800
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... ORPHA:730
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cleft palate, Cardiomegaly ORPHA:97297
Hydrolethalus Syndrome 1
Accessory spleen, Cleft palate, Adrenal gland dysgenesis, Tracheal stenosis, Microphthalmia OMIM:236680
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, ... OMIM:193300
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Elevated circulating cre... ORPHA:99826
Schinzel-Giedion Syndrome
Streak ovary, Myeloid leukemia, Aganglionic megacolon, Central hypothyroidism, Anteriorly placed ... ORPHA:798
Geleophysic Dysplasia 3
Tracheal stenosis, Hepatomegaly OMIM:617809
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Lymphadenopathy, Abnormality of... ORPHA:538
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Cardiomegaly ORPHA:95430
Brucellosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Elevated circulating C-re... ORPHA:1304
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... ORPHA:99827
Proteus Syndrome
Thymus hyperplasia, Generalized hyperpigmentation, Testicular neoplasm, Enlarged polycystic ovari... ORPHA:744
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of... OMIM:256040
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Cryptorchidism,... ORPHA:506358
Williams-Beuren Syndrome
Colonic diverticula, Diabetes mellitus, Hypercalcemia, Portal hypertension, Celiac disease, Recta... OMIM:194050
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Biliary cirrhosis, Thy... ORPHA:289390
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Biliary atresia, Congenital... ORPHA:2255
Sotos Syndrome
Hypopigmentation of the skin, Aganglionic megacolon, Hypercalcemia, Cryptorchidism, Hydrocele tes... ORPHA:821
Blau Syndrome
Hyperpigmentation of the skin, Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the live... ORPHA:90340
Granulomatosis With Polyangiitis
Tracheal stenosis, Granulomatosis OMIM:608710
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Diabetes mellitus, Delayed puberty OMIM:176690
Maternal Phenylketonuria
Esophageal atresia, High palate ORPHA:2209
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Abnormal blood ion concentration, Anemia, Gastrointestinal inflammation ORPHA:79404
Larsen Syndrome
Tracheal stenosis, Cryptorchidism, Cleft palate OMIM:150250
Geleophysic Dysplasia 1
Tracheal stenosis, Hepatomegaly OMIM:231050
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Cryptorchidism, Increased serum testosterone level, Hypoplasia of the thymu... OMIM:264090
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly ORPHA:3384
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia, Cleft palate OMIM:164210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cryptorchidism, Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Bifid tongue, Anal... ORPHA:93271
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Mowat-Wilson Syndrome
Aganglionic megacolon, Asplenia, Cryptorchidism, Gastrointestinal dysmotility, Pyloric stenosis, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Asplenia, Cryptorchidism, Pyloric stenosis, Cleft hard palate, Cleft palat... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Asplenia, Cryptorchidism, Pyloric stenosis, Cleft hard palate, Cleft palat... ORPHA:261552

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 Mmp15

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 Mmp15.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. The Journal of comparative neurology (October 2019) Mmp15tm1b(KOMP)Wtsi 31609468
Divergent Matrix-Remodeling Strategies Distinguish Developmental from Neoplastic Mammary Epithelial Cell Invasion Programs. Developmental cell (September 2018) Mmp15tm1a(KOMP)Wtsi 30269950
Functional roles of MMP14 and MMP15 in early postnatal mammary gland development. Development (Cambridge, England) (September 2016) Mmp15tm1a(KOMP)Wtsi PMC5117140

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
Mmp15tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mmp15tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mmp15tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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