Gene Summary

Name:
transmembrane protein 248
Synonyms:
G430067H08Rik,  A930023A16Rik,  0610007L01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal duodenum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased circulating cholesterol level Tmem248tm1.1(KOMP)Vlcg HOM Early adult 3.53×10-05
enlarged adrenal glands Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
female infertility Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased erythrocyte cell number Tmem248tm1.1(KOMP)Vlcg HOM Early adult 3.46×10-07
abnormal spleen morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal colon morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged duodenum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
vertebral fusion Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 4.79×10-05
megacolon Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal cecum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased total body fat amount Tmem248tm1.1(KOMP)Vlcg HOM Early adult 3.12×10-05
increased lean body mass Tmem248tm1.1(KOMP)Vlcg HOM Early adult 1.85×10-06
decreased thymus weight Tmem248tm1.1(KOMP)Vlcg HOM Early adult 1.19×10-09
small spleen Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small pancreas Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating alkaline phosphatase level Tmem248tm1.1(KOMP)Vlcg HOM Early adult 5.28×10-15
abnormal seminal vesicle morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged cecum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Tmem248tm1.1(KOMP)Vlcg HOM Early adult 2.39×10-10
decreased brain weight Tmem248tm1.1(KOMP)Vlcg HOM Early adult 2.49×10-05
decreased hematocrit Tmem248tm1.1(KOMP)Vlcg HOM Early adult 5.08×10-05
distended jejunum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal pancreas morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal jejunum morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased monocyte cell number Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 1.92×10-08
decreased liver weight Tmem248tm1.1(KOMP)Vlcg HOM Early adult 4.49×10-09
enlarged ileum Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal thymus morphology Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
small thymus Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased body length Tmem248tm1.1(KOMP)Vlcg HOM Early adult 1.94×10-10
small seminal vesicle Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
absent pancreas Tmem248tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased heart weight Tmem248tm1.1(KOMP)Vlcg HOM   Early adult 5.69×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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%
blood
bone marrow
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%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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 adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Dorso Ventral

12 Images

Histopathology

Images

2 Images

Adult LacZ

LacZ Images Section

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Tmem248 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 Tmem248 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma... ORPHA:1666
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... OMIM:615710
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Hypocholester... OMIM:610539
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Joint stiffness, Secun... OMIM:609069
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... OMIM:619281
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... OMIM:610199
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... ORPHA:93111
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu... ORPHA:556955
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Pancreatic aplasia, Pancre... OMIM:260370
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... OMIM:243150
Dietary Iron Overload Disease
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Micronodu... ORPHA:139507
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... OMIM:612541
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased serum testosterone l... ORPHA:96181
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellit... ORPHA:261265
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:212065
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Congenital hip dislocation, Foot joint contracture, Diabetes mel... ORPHA:456312
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... OMIM:618500
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis, Increase... OMIM:615830
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca... ORPHA:71
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... OMIM:219080
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Lymphopenia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblast... ORPHA:486
Chylomicron Retention Disease
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole... OMIM:246700
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... ORPHA:398063
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hyponatremia, H... OMIM:617053
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypoch... OMIM:266510
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorc... ORPHA:2849
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... OMIM:608104
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Abnormal form of the vertebral bodies, Annular pan... ORPHA:1305
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... ORPHA:2688
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... OMIM:600001
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... ORPHA:14
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... ORPHA:96180
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Abnorma... ORPHA:369929
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... ORPHA:251274
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Congenital mal... ORPHA:2332
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... OMIM:617784
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... OMIM:211600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility... OMIM:619608
Alg12-Cdg
Gastroesophageal reflux, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Microp... ORPHA:79324
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Delayed ske... OMIM:618440
Secondary Intestinal Lymphangiectasia
Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin co... ORPHA:90363
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Cleft palate, Ectopic anus, Ab... ORPHA:2345
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, ... ORPHA:83617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... OMIM:606612
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Avascular necro... ORPHA:96253
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Bicuspid aortic valve, Hypospadias, Abnormal dental ename... ORPHA:96169
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Fanconi Anemia, Complementation Group F
Failure to thrive, Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:603467
Potocki-Lupski Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, High palate, Gastroesophage... OMIM:610883
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concent... OMIM:616050
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... OMIM:557000
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hype... OMIM:232220
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode... ORPHA:3405
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, ... OMIM:200995
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck, Esophagea... OMIM:300514
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemi... OMIM:615863
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, C... OMIM:235255
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Short neck, Cryptorchidism, Pancreatic ... ORPHA:1655
Aarskog-Scott Syndrome
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck, Cryptorchidism, Cleft pala... ORPHA:915
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... OMIM:601847
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob... ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Renal cyst, Proximal tubulopathy, Protein-losin... OMIM:602579
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Intestinal malrotation, Camptodactyly of finger, Joint stiffness, Flex... ORPHA:115
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Fe... ORPHA:244
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Joint stiffness, Cr... ORPHA:3027
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Short ... OMIM:229850
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevated circulating creati... OMIM:137920
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Vesicoureteral reflux, Atrial septal defect, Vertebral fusion... OMIM:610443
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi... ORPHA:93315
Verheij Syndrome
Joint laxity, Vertebral fusion, Ventricular septal defect, Small for gestational age, Short neck,... OMIM:615583
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ... ORPHA:79319
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Genu varum, Steatorrhea, High palate, Hyperechogeni... OMIM:617941
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias, Failure to thrive in infancy, Increased circulating farnesol ... OMIM:618156
Atelosteogenesis Type I
Joint dislocation, Malrotation of colon, Abnormal ossification involving the femoral head and nec... ORPHA:1190
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Accelerated skeletal maturation, Increased circul... OMIM:202010
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... ORPHA:313892
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Colitis, Ileal ulcer, Polyarticular arthritis, Lymphopenia, Thr... OMIM:616744
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... OMIM:270400
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospa... ORPHA:2059
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... OMIM:619313
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora... ORPHA:1436
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic... OMIM:130720
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Dextro... OMIM:613686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... OMIM:178110
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Diaphanospondylodysostosis
Short neck, Cleft palate, Multiple renal cysts, Absent or minimally ossified vertebral bodies, Ab... ORPHA:66637
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean c... ORPHA:90041
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal heart morphology, Azoospermia, Infertility, Scoliosis, Thoraci... ORPHA:1445
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... OMIM:618845
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinu... OMIM:607155
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, A... ORPHA:116
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis... ORPHA:79500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c... ORPHA:210548
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft palate, Vesicoureteral reflux, Abnormal... OMIM:244600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,... OMIM:304790
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Jacobsen Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation,... ORPHA:2308
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
Trigonocephaly 1
Omphalocele, Craniosynostosis, High, narrow palate, Long penis, Lumbar hemivertebrae, Metopic syn... OMIM:190440
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... OMIM:612852
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... ORPHA:90362
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... OMIM:113000
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ambiguous genitalia, Multicystic kidney dysplasia, Hypospadias, Small for gestatio... OMIM:257300
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Hypothyroidism, Hepatomegaly, Acholic stools, Decreased liver func... ORPHA:30391
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Recur... OMIM:619377
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadis... OMIM:617159
Distal Deletion 12Q
Ectopic kidney, Short neck, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropen... ORPHA:96149
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Bohring-Opitz Syndrome
Joint dislocation, Bilateral cleft palate, Sacral dimple, Prominent metopic ridge, Ventricular se... OMIM:605039
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia OMIM:309620
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging... ORPHA:377
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... OMIM:227646
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... OMIM:175500
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Congenital Generalized Lipodystrophy
Accelerated skeletal maturation, Adipose tissue loss, Hepatic steatosis, Hepatomegaly, Bone cyst,... ORPHA:528
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Gracile Bone Dysplasia
Failure to thrive, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Decreased skull ossifi... OMIM:602361
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Vesicoureteral reflux, Atrial septal defect, Atrioventricular canal defect,... OMIM:274000
Microform Holoprosencephaly
Hypoplasia of penis, Maternal diabetes, Hypothyroidism, Cleft palate, Scoliosis, Ambiguous genita... ORPHA:280200
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Prominent metopic ridge, Neonatal insulin-dependent diabetes mellit... ORPHA:99885
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Hypoalbuminemia, Vesicoureteral refl... OMIM:235510
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A... ORPHA:79076
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Cleft palate, Ab... ORPHA:90650
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Atrial septal defect, Accessory s... OMIM:194190
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... OMIM:206900
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... ORPHA:93941
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Joint hypermob... OMIM:617052
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abno... ORPHA:1318
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... ORPHA:2916
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft pala... OMIM:243605
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchid... ORPHA:452
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Hyp... OMIM:609053
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, A... ORPHA:1759
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Aromatase Deficiency
Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Male infertility, Hypergonadotropic ... ORPHA:91
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Failure to thrive, Sacral dimple, Cryptorchidism, Cleft palate, Abn... OMIM:247200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect, Submucous clef... OMIM:619227
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral ... ORPHA:464311
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bo... OMIM:244450
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adrenocortical carcinom... ORPHA:79665
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Hamartomatous stomach polyps, Irregular ossifi... OMIM:109400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Esophageal Atresia
Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, Abno... ORPHA:1199
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Inguinal hernia, Vertebral fusion, Sacral dimple, Decrea... OMIM:213980
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervica... OMIM:214300
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Craniosynostosi... OMIM:614114
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... OMIM:270100
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Multiple joint contractures, Ventricular septal defect, Anterior pituitary hyp... ORPHA:464306
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Hemive... OMIM:271520
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Larsen Syndrome
Joint laxity, Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheomalacia, Elb... OMIM:150250
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Cleft palate, Horseshoe kidney, Fused cervica... ORPHA:3320
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... OMIM:305620
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Short neck, Pyloric stenosis, Cryptorchidism, Flexion con... OMIM:147791
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Cryptorchidism, Kyphosis, Dysplastic tricuspid valve... ORPHA:1724
Chops Syndrome
Ventricular septal defect, Tracheomalacia, High, narrow palate, Cryptorchidism, Splenomegaly, Obe... OMIM:616368
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Dubowitz Syndrome
Inguinal hernia, Sacral dimple, Hypospadias, Aplastic anemia, Cryptorchidism, Velopharyngeal insu... OMIM:223370
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... ORPHA:99413
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... ORPHA:881
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Short neck, High, narrow palate, Gastrointesti... ORPHA:99226
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Omphalocele, Multicystic kidney dysplasia, Hydroureter... ORPHA:2241
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Abnormal sacrum morphology, Metrorrhagia, Pericardial effusio... ORPHA:464329
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... OMIM:617796
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:616100
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Hiatus hernia, Malabsorption, Precocious puberty, Cleft pa... ORPHA:50
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp... ORPHA:247806
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... OMIM:614700
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea OMIM:613291
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Furrowe... OMIM:616975
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Ambiguous genitalia, Multicystic kidney dysplasia, Vaginal neoplasm, Osteol... ORPHA:1052
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... ORPHA:103910
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arthrogryposis multiplex ... ORPHA:163746
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter OMIM:617577
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Fg Syndrome Type 1
Limited elbow extension and supination, Inguinal hernia, Sacral dimple, Hypospadias, Progressive ... ORPHA:93932
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Thoracic hemivertebrae, Micrope... OMIM:268310
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, High palate, Cervical C... OMIM:616549
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre... OMIM:222470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Hypothyroid... ORPHA:79259
Otopalatodigital Syndrome Type 2
Omphalocele, Carpal synostosis, Increased bone mineral density, Hypospadias, Abnormal heart valve... ORPHA:90652
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Meckel d... OMIM:616395
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... ORPHA:90291
Trisomy 8P
Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Cry... ORPHA:264450
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Prominent metopic ridge, Adrenocorti... OMIM:130650
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid ... OMIM:609313
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Per... ORPHA:90038
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Generalized joint laxity, Functional abnormality of the bladder, High palate, ... ORPHA:2953
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, Abnormal vertebral morphology, Anemia ORPHA:99688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni... ORPHA:139466
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Multicystic kidney dysplasia, Ventricular se... ORPHA:2092
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Panc... OMIM:263520
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Bifid uvula, Synostosis of carpal bones,... OMIM:101200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Patent for... ORPHA:391487
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Whim Syndrome
Abnormal small intestine morphology, Lymphopenia, Lymphadenitis, Neutropenia, Abnormal neutrophil... ORPHA:51636
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Bicuspid aortic valve, Elbow con... OMIM:617137
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Robinow Syndrome
Small scrotum, External genital hypoplasia, Pulmonary valve atresia, Hemivertebrae, Clitoral hypo... ORPHA:97360
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... OMIM:214800
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Unilateral cryptorchidism, Mitral valve prolapse, Platyspondyly, Decr... OMIM:605822
Alveolar Echinococcosis
Low back pain, Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension, ... ORPHA:284
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr... ORPHA:449432
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, ... OMIM:118100
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... OMIM:614602
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... OMIM:616834
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Reduced bone ... ORPHA:935
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Anal stenosis, Macrocyt... OMIM:250250
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer, Hypergastrinemia OMIM:126840
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle... ORPHA:468631
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotestis, Cleft palate,... OMIM:611812
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria... OMIM:619573
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis,... OMIM:272460
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptor... OMIM:618846
Vascular Hyalinosis
Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption OMIM:277175
Lipodystrophy, Congenital Generalized, Type 2
Accelerated skeletal maturation, Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepa... OMIM:269700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypo... OMIM:601186
Fanconi Anemia
Reduced bone mineral density, Leukopenia, Abnormality of the liver, High palate, Abnormality of t... ORPHA:84
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... ORPHA:1780
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, ... ORPHA:3386
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, De... OMIM:618162
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Hemivertebrae, Renal hypoplasia, Cleft palate, Scoliosis, ... ORPHA:85284
Acro-Renal-Ocular Syndrome
Vertebral fusion, Aganglionic megacolon, Radial club hand, Horseshoe kidney, Bladder diverticulum... ORPHA:959
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227990
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia, Mi... ORPHA:798
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ... OMIM:618183
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U... OMIM:155310
Lysosomal Acid Lipase Deficiency